Podcasts about Batten disease

Kristen Gray is the mother of Charlotte and Gwenyth Gray, who were diagnosed with Batten disease in 2015. Kristen and her husband, film producer Gordon Gray, founded the Charlotte and Gwenyth Gray Foundation to Cure Batten Disease. Doctors explained that there was no cure, nor any treatment options for this rare neurodegenerative disorder which would leave the girls blind, immobile, cognitively impaired, and ultimately gone between the ages of 6 and 12. Kristen and Gordon were unwilling to accept this prognosis. One year later, thanks to unwavering dedication and an overwhelming outpouring of support from all over the world, they built a foundation which coordinated and funded a first of its kind investigational gene therapy clinical trial, providing the first signs of hope for a cure to families impacted by this disease. Results are ongoing, but promising. The Foundation funded the pre-clinical research and treatment of 15 children to date. Reality Life with Kate Casey What to Watch List: https://katecasey.substack.com Patreon: http://www.patreon.com/katecasey Twitter: https://twitter.com/katecasey Instagram: http://www.instagram.com/katecaseyca Tik Tok: http://www.tiktok.com/itskatecasey Facebook Group: https://www.facebook.com/groups/113157919338245 Amazon List: https://www.amazon.com/shop/katecasey Like it to Know It: https://www.shopltk.com/explore/katecaseySee Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

David and Karen Kahn were overjoyed when they welcomed twins Amelia and Makenzie in 2010. However, it wasn't long before they realized their girls were different. Since getting their Batten disease diagnosis, they have worked tirelessly to find a treatment not only for their girls, but for kids around the world, with the help of researcher Dr. Michelle Hastings. Listen to their story now, and learn more about their mission at www.forebatten.org.

In today's news: Local State Rep. sees potential for compromise on tipped wage fight Coloma schools hear from Berrien County's prosecutor on bullying Halloween fundraiser set for Watervliet girl battling Batten Disease and more! See omnystudio.com/listener for privacy information.

In today's news: Local State Rep. sees potential for compromise on tipped wage fight Coloma schools hear from Berrien County's prosecutor on bullying Halloween fundraiser set for Watervliet girl battling Batten Disease and more! See omnystudio.com/listener for privacy information.

In today's news: Local State Rep. sees potential for compromise on tipped wage fight Coloma schools hear from Berrien County's prosecutor on bullying Halloween fundraiser set for Watervliet girl battling Batten Disease and more! See omnystudio.com/listener for privacy information.

In today's news: Local State Rep. sees potential for compromise on tipped wage fight Coloma schools hear from Berrien County's prosecutor on bullying Halloween fundraiser set for Watervliet girl battling Batten Disease and more! See omnystudio.com/listener for privacy information.

Use AI to Speed up Your Work Flow Ethically and Securely. There are lots of courses on AI out there, but this one is specific only to medical writing and editing.  Access the AIMWE course waitlist. https://www.learnamastyle.com/waitlist/ Leqselvi for Alopecia Areata: The FDA has approved deuruxolitinib (Leqselvi) as a first-line treatment for adults with moderate to severe alopecia areata (AA). Developed by Sun Pharma, this oral selective inhibitor of Janus kinases JAK1 and JAK2 is typically dosed at 8 mg twice daily. The approval, based on the THRIVE-AA1 and THRIVE-AA2 trials, marks an important addition to limited treatment options for AA, which has significant psychological impacts. Femlyv Dissolvable Birth Control: The FDA has approved norethindrone acetate and ethinyl estradiol (Femlyv) as an oral dissolvable birth control pill, expanding access for those who have difficulty swallowing. This form of hormonal birth control, in use since 1968 as a swallowable tablet, also helps manage conditions like endometriosis and PMDD. The approval, based on a study of 743 women, offers a new option with common side effects like headache and nausea. Brineura for Batten Disease: The FDA has expanded the indication for cerliponase alfa (Brineura) to treat neuronal ceroid lipofuscinosis type 2 (CLN2 disease) in children under 3 years of age. Developed by BioMarin Pharmaceutical, this enzyme replacement therapy, initially approved in 2017, is administered by infusion into the brain. The expanded approval was based on a phase 2 trial showing reduced motor function decline and delayed disease onset. Erzofri for Schizophrenia: The FDA has approved paliperidone palmitate (Erzofri) extended-release injectable suspension for treating schizophrenia and schizoaffective disorder in adults. This long-acting injectable (LAI) antipsychotic, administered once a month, improves patient adherence by reducing dosing frequency. Developed by Luye Pharma Group, it was granted a U.S. patent in 2023 and approved under the 505(b)(2) pathway. Eque-cel for MS: The FDA has approved the IND application for equecabtagene autoleucel (Eque-cel) for treating multiple sclerosis (MS). Developed by IASO Biotechnology, this chimeric antigen receptor autologous T cell injection showed promising efficacy in six autoimmune diseases in a Chinese trial. MS, affecting 3.07 million people worldwide, is characterized by CNS demyelination and neuronal injury, with Eque-cel offering a new treatment option. Spravato for TRD: Johnson & Johnson has submitted an sNDA for esketamine (Spravato) as a monotherapy for adults with treatment-resistant depression (TRD). Already approved in combination with an oral antidepressant, esketamine is an NMDA receptor antagonist that rapidly alleviates depressive symptoms. The submission is based on Phase 4 TRD4005 study results, showing rapid improvement in depression scores with a consistent safety profile. ZW191 Anti-Tumor Agent: The FDA has cleared the IND application for ZW191, a novel antibody-drug conjugate (ADC) targeting folate receptor alpha (FR⍺) in cancers like gynecologic and NSCLC. Developed by Zymeworks, this TOPO1i ADC uses a novel payload, ZD06519, showing robust antitumor activity and a tolerable safety profile in preclinical models. Clinical development of ZW191 is planned to begin in the second half of 2024.

RARE MAMAS RISING- EPISODE 39 Blazing Trails to Cure and Care with The Charlotte and Gwenyth Gray Foundation to Cure Batten Disease Founder Kristen Gray    Kristen Gray is an extraordinary mom of four incredible children: Charlotte, Gwenyth, Callan, and Gavin. From the moment her eldest two, Charlotte and Gwenyth, were diagnosed with Batten Disease, she embarked on a courageous journey blazing trails in rare disease advocacy. She founded The Charlotte & Gwenyth Gray Foundation to Cure Batten Disease and established The Gray Academy, a beacon of hope and education for children facing complex neurological disorders. Her unwavering dedication and pioneering spirit have been a driving force behind groundbreaking initiatives to find treatments and support families in similar situations. Join us as we delve into her inspiring story of resilience, hope, and relentless determination to change the future for her children and others.   EPISODE HIGHLIGHTS The discovery of Charlotte and Gwenyth's Batten Disease diagnoses Founding The Charlotte & Gwenyth Gray Foundation to Cure Batten Disease Development of The Gray Academy and their approach to education Balancing advocacy and motherhood Kristen's vision for the future of children and families affected by neurological disorders Kristen's best learnings for other rare mamas   LINKS   The Charlotte & Gwenyth Gray Foundation to Cure Batten Disease Website: www.curebatten.org  Instagram: @curebatten Facebook: @curebatten   The Gray Academy Website: www.thegrayacademy.org Instagram: @thegrayacademy Facebook: @thegrayacademy     CONNECT WITH NIKKI Website https://raremamas.com/ Instagram https://www.instagram.com/Rare_Mamas/ Email info@raremamas.com

29 February marks Rare Disease Day. This day is an opportunity for the rare community to come together to raise awareness of the common issues affecting those living with rare conditions. A rare condition is a condition that affects less than one in 2,000 in the population, and although rare conditions are individually rare they are collectively common. It is estimated that there are over 7,000 rare conditions. Around 80% of rare conditions have an identified genetic origin. In this episode of the G Word, our host Julia Vitarello, Founder and CEO of Mila's Miracle Foundation, is joined by Rich Scott, Interim CEO for Genomics England, and Ana Lisa Tavares, Clinical Lead for Rare Disease Research at Genomics England, as they discuss challenges for those living with a rare condition and the work being carried out across the genomics ecosystem to support them. Julia is the mother of Mila, a young girl who was diagnosed with a rare genetic condition called Batten Disease, and in this episode Julia takes us through Mila's story, and how she hopes to help many more families access treatments for their children.   "So when parents, children, are diagnosed whether it's a fatal or life-longing debilitating or difficult disease, if you know that what's being learned from your child both from just the genomics to the potential treatments that's helping the next child, that helps parents like me be able to continue living."   You can find out more about Mila's story in our previous podcast episode with Rich Scott, Julia Vitarello and Dr Tim Yu.   You can read the transcript below or download it here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/Rare-Disease-Day.docx  Julia: Welcome to the G Word So my life at that point seemed to just disappear in that moment, all the things that had mattered to me were gone; I knew there was something wrong with my daughter but I had absolutely no idea that a typical child who was outgoing and active and verbal and had friends could suddenly lose all of her abilities and die. My name is Julia Vitarello, and I'm your host for today's episode. Today joining me in conversation is Rich Scott, Interim CEO for Genomics England, and Ana Lisa Tavares, Clinical Lead for Rare Disease Research, also at Genomics England. Today we'll be discussing challenges for those living with a rare condition and the work being carried out across the genomics ecosystem to support them. If you enjoy today's episode, please like, share and rate the G Word on wherever you listen to your podcasts. The 29th of February marks rare disease day. This day is an opportunity for the rare community to come together to raise awareness of the common issues affecting those living with rare conditions. A rare condition is a condition that affects less than one in 2,000 in the population, and although rare conditions are individually rare they are collectively common. It is estimated that there are over 7,000 rare conditions. Around 80% of rare conditions have an identified genetic origin. Before I get into speaking with Rich and Ana Lisa, I wanted to share my story and my daughter, Mila's, story. My life as a mother started really like anyone else's, my daughter was perfectly healthy, her name is Mila. For the first three or four years of her life she was like any other kid. I live in Colorado in the United States, my daughter was a skier, she was a hiker, she was rock climbing, she was incredibly active and singing songs and swimming and riding bikes. But around four years' old she started tripping and falling, she started pulling books and toys up closely to her face; she started being covered in bruises, getting stuck on words and repeating her sentences and I brought her to about 100 different doctors and therapists around the United States to try to figure out what was going on with her. Around four years' old I started speaking with orthopaedic surgeons, with ophthalmologists, with neurologists, with speech therapists and each one of them, you know, told me pretty much that I was a crazy mom and that my daughter was typical and normal and that she would grow out of these sort of strange symptoms that she was having.      By the time that she was six years' old, I had had enough and I was crying on a regular basis, no doctor could help me and I was tired of lugging my daughter, who was now covered in bruises and tripping and falling and stuttering, together with my newborn son at the time, kind of around the country only to be told that I was crazy. And at that point at six years' old I brought her into the emergency room in the Children's Hospital Colorado, near where I live. She was in there for about a week and underwent a battery of tests and at the end of that week I was told that my daughter had a rare genetic condition called Batten Disease and that she would lose all of her abilities and die in the next few years. So my life at that point, first four years of my life seemed to just disappear in that moment, all the things that had mattered to me were gone. I knew there was something wrong with my daughter but I had absolutely no idea that a typical child who was outgoing and active and verbal and had friends could suddenly lose all of her abilities and die. After crying on my closet floor pretty much most of the day for a few weeks I picked myself up. I started to read white papers, I started to go online and learn about other rare conditions. I started to speak with parents that had fought for their children with physicians, with researchers, and did everything I could to kind of figure out if there was even a glimmer of hope. And what I was told at the time at the end of 2016 was that there is almost nothing that could be done and very little was known about my daughter's form of Batten Disease. But that there was a tiny glimmer of hope that we could maybe stop genetic disease, and that's all I needed. I started Mila's Miracle Foundation, which is a non-profit organization. I started telling Mila's story and taking care of my kids by day and trying to fight and learn and raise money by night and I started a gene replacement therapy because it was the only option that I could take on as we didn't know much at all about the disease, and by replacing it, it was kind of the only thing that I could do, but it was going to take many years and millions and millions of dollars and I knew that it wouldn't be in time for my daughter. Along the way, there was something a little bit unusual which was that my daughter had an auto recessive disease which meant that she needed to have a mutation in the same Batten causing gene from her mom, myself, and her father, and they could only find one of these two. That led me to learn about whole genome sequencing, which was kind of the most extensive way of looking at Mila's genome to figure out where this missing mutation was. And in that search I crossed paths with a Dr Timothy Yu at Boston Children's Hospital, and he volunteered with his lab to help me find this missing mutation that no other lab could possibly find. And within a few months and a lot of work, a lot of late nights and weekends and staring at screens, through whole genome sequencing, the team was able to find Mila's missing mutation and finally diagnose her fully with this rare form of an already rare Batten disease. That is where Mila's story changed and turned direction. At that point, a recently approved drug for spinal muscular atrophy was on all neurologists' minds at that moment because it had just been approved in the US by the FDA and in other countries, and it was a game changer, these children were dying and on respirators and in wheelchairs you know at the age of two and with this new drug they were actually living, many of them were living long lives and were active and happy and healthy and going to school. And Mila looking her whole genome sequence was able to kind of fit that same criteria, and so the doctors, including Dr Yu said, “What if we did the same thing for these children? What if we made a drug like this for Mila?” This drug called Antisense Oligonucleotides, or ASO seemed to be a good fit for Mila's mutation. And so a drug was made for Mila and named after her called Milasen and it was a race against time for an entire a year with a team of honestly hundreds of people across academics and industry, I was fighting to try to raise the money and awareness and working with a scientific team. And one year after Mila was diagnosed when she turned seven years' old, we moved to Boston and Mila began receiving Milasen, which was named after her, and only in that moment in time did I realise not only what a big deal this was for me as her mother, but what a big deal this was for science. She was the first person in the world to receive a medicine that was tailored just to one person and it was named after her because there was no-one else in the world they could find that shared that same mutation. When Mila began this, you know, I didn't know what to expect but I knew that she was going to lose all her abilities and die if she didn't receive this. And so once she started receiving this within just a few months, her 30 seizures a day went down to nothing; she had occasional small tiny seizures that were barely visible but her quality of life was incredibly you know improved, not to mention our family's because she was no longer thrashing and smashing her arms and legs up against walls and tables. She had been slumped and could no longer sit up. She could no longer hold her body up and take steps with my support from behind and after Milasen she started being able to do that even walk up the stairs with alternating feet with me supporting her from behind. She also had received a G-tube and was receiving all of her nutrition through the G-tube and after Milasen she started eating by mouth, it wasn't perfect, but she was eating pureed foods, and being able to swallow better and probably most importantly she was able to smile and laugh at the funny parts in the books and the stories that I had been reading and singing to her and that she had kind of really not been responding to as much before Milasen and some of that came back. So, a year into this everyone was quite shocked that Mila had done so incredibly well in this first year despite how progressed she was, progressed her condition was. Unfortunately in the second year it was during COVID and it was unclear whether or not Mila's disease had kind of stopped or whether it was slowly progressing and in the third year Mila started having problems associated with her rare condition and I was faced as a mother with the most horrible decisions anyone should ever, never, never, never have to face to decide what Mila would want if she were able to talk and tell me whether or not this was a life that she felt like she would want to live. And after three years on Milasen, which was three years ago almost this week, Mila died and in many ways my life as I knew it was kind of over. I'm a very positive happy person and I have a son and I continue getting up every day and pushing through the day but I'm not sure how any parent makes it through days, weeks, months and their whole life without their child physically there with them. Ana Lisa: We can really hear the perseverance that you had to get a diagnosis through whole genome sequencing eventually for Mila. Can you tell us a little bit more about that process and what that diagnosis, what did it mean for Mila and for your family? Julia: When Mila was first diagnosed with Batten Disease, one of the missing mutations could not be found by any lab. I did research and found out that whole genome sequencing which at the time was very, very hard to find a lab that would do it or anyone that would do it in the United States, I did learn that that was really what was needed in order to try to really get down to find the underlying genetic cause of Mila's disease and give her a full diagnosis. So once we managed to have Dr Yu's lab at Boston Children's Hospital carry out the whole genome sequence, obviously we were able to then find exactly where the broken, underlying broken kind of genetic mutation was and why that was important was for two reasons: 1) was so that we could actually have a diagnosis and even though it was the worst diagnosis we could have ever asked for, at least there was an answer and for so many years I didn't have an answer and there is nothing worse than seeing your child, you know, having all of these different symptoms and problems and having you know tens, if not hundreds, of different doctors and therapists tell you that they don't know and maybe you're just a little bit over-worked and over-worried about things, and having no answer and no idea what's wrong is like living in this limbo that's just terrible. And so whole genome sequencing allowed for us to have a full diagnosis for Mila, and it also allowed us to use that data since it was truly the precise place where, you know, we could find the precise plan where her gene was broken. It allowed the researchers to then also think about what could be done about it as well, which is the second thing a parent thinks about after they have the kind of relief in some ways, which is a strange word to use but it's true, of knowing what is wrong and then thinking, “What could I do about it now?” And so for me I would say that's how, Ana Lisa, that's how I reacted to that, is there was enormous relief initially, which is just the weirdest word ever to use for that but at least I felt like I wasn't crazy and that there was an actual reason and that it allowed us, allowed me and others to think what kind of action can we take now. Rich: One of the things that often strikes me, I'm a clinical geneticist by background, just like Ana Lisa, is how often particularly several years ago when we were in a different situation, it depended on families and parents pushing and pushing and pushing and asking, that's something I think in the UK we're really lucky that there have been changes in terms of availability of testing. Julia, as you know, we were set up ten years ago initially to run a project, a research project in partnership with the NHS called ‘The 100,000 Genome Project' asking the question about whether whole genome sequencing could be used in a diagnostic setting. Whole genome sequencing had just emerged as a thing that could even be conceived of as affordable in a healthcare system back then, and we worked with the NHS and tens of thousands of families with rare conditions and people with cancer to ask that question and again, we're really proud of what that work and our partnership with the NHS has led to, which is now in the UK. There is the availability nationally of whole genome sequencing to test in certain settings including in rare conditions that are hard to solve in this sort of way and it's one of the things which has really changed the way we can go about this, but we also know that there's still, it's still hard often to identify who should be seen by a specialist who might do a test and so on. But it has really changed things and I think it's hearing from families like yours about how challenging it is and thinking about how we turn, looking across all of the story that you told us of everything you went through, how we can make that be something where we can make it be more systematically available and work for many more people, and I know your phrase from Mila to millions really strikes a chord with me, and I know with the NHS mind-set here in the UK where it's about equity of access and I think that mind-set that you bring is so important. Julia: Yes, Rich, I think it's a really good point you know, because a lot of parents like myself, we're talking about probably millions around the world and tens of thousands just in the UK alone, spend so much time going from one physician to another and to a therapist and it takes an enormous amount of energy and time in a family that's already dealing with pain and confusion and not understanding what's going on, not to mention usually that child, in my case, Mila, is having problems that it's not easy to leave the house and get in the car and go to all these appointments. And the more we can push towards whole genome sequencing as one of the first places to go, if not the first place to go, the more it's going to cut that sort of diagnostic odyssey down to the very bare minimal. And so of course a dream would be is that any child that has, I like to think of it as soon as you kind of have more than one symptom that shouldn't normally go together, that sort of has a little red flag that goes off and in most parts of the world right now no physician wants to scare a parent like me, it's happened a number of times to me where a physician has said, “Well, you know, there is this rare condition but I'm not going to bring that up because it's so rare that the likelihood that your daughter has that, I wouldn't want to scare you.” But the more we can move towards whole genome sequencing right away to help with that answer that could cut months and very often years from that odyssey, and that is where we need to be, we can't have the tapping on the knee and stacking up blocks and running down the hall for months and years just to figure out what's going on. Ana Lisa: And I think Rich also there said a power of having a national healthcare service where patients who are having whole genome sequencing can also decide whether they wish to consent to be part of research and combining that with a national genomic research library and then the ability to work so closely with the NHS and go back to patients if there is a new diagnosis that could benefit them is really powerful I think, and that's definitely one thing that we've also learnt from these big whole genome sequencing efforts is that our knowledge is continuing to develop and some people will get a diagnosis from that immediately and we've got amazing colleagues working on diagnostic discovery looking at whole cohorts of patients now who are having whole genome sequencing and that's also been really informative and allowed a lot of new diagnoses identified also through research and through these efforts to be found. Julia: Absolutely and I think that the UK is incredibly well suited to have such widespread sort of country-wide whole genome sequencing project like what Genomics England has done because you have one system where all of the clinical and genetic data can all come in and kind of be analysed both for like you said diagnostics but also it could be, if families and patients are interested, right, in contributing to the research which then comes full circle and helps the entire system benefit from better treatments you know and better understanding of diseases. Rich: And that point of sort of thinking about how to move things forward, so the NHS has a service based in Exeter which is addressing the question where children are on intensive care, where often intervention is needed really rapidly to make a difference, so that's one of the examples where sort of thinking about making sure that service is available early and rapidly is being set up and that's been really successful and identifying a cause where that really changes the care of that child on intensive care. The other area where we're working really closely with the NHS at the moment, as you know, Julia, and in fact I think this was probably one of the reasons we first came to talk to you was thinking about our newborn genomes programme where if you like, the big question there is saying we know that there are a few hundred conditions that are within that longer list of rare conditions where there is a treatment available routinely if the diagnosis is made, and saying could we use whole genome sequencing alongside existing newborn heel prick testing which in the UK currently looks for nine, shortly to be ten, conditions. So we're just about to launch that programme and that will sequence the genomes of 100,000 babies born at maternity hospitals, not selected for children where there's something, a concern, raised, but any baby at that hospital would be eligible for the family to choose to join that research programme and really to ask that question about whether this is something that we should offer to all babies developing the scientific evidence around it, learning about how you might implement it in practice, and also having conversations about how one might do that, what public attitudes are to it and so forth, developing evidence that can move us forward in that area too. And back to Ana Lisa's point about improving knowledge, we know that today there are a certain number of conditions that one might think are comparable to those nine that are currently looked for in the UK on the heel prick that we could use genetics as a way in. We also know that through the sort of innovation and the new knowledge that you mentioned that was relevant to Mila, that list might grow quite considerably in the coming years, so it's thinking about how we set ourselves up to make sure that we're able to take advantage of that to its full. Julia: Yeah, and I think it's a great, I'm glad you brought this up Rich because the UK really is leading the world in this, there is no-one else that is doing whole genome sequencing at birth, and ultimately, that's where we need to be. You know it's not going to happen overnight and like you said, the purpose of this is really to learn a lot about how and if to roll this out maybe in a larger scale way across the UK. But ultimately, you know, as Mila's mom, I think all the time about you know how incredible what I saw at a very progressed state for Mila with this treatment and the only way to actually really truly help Mila and other Milas is to get to these children early enough so that they're diagnosed before they have symptoms and they're treated before they have symptoms. And the way to move towards that is to at least have efforts like the project, you know, the newborn screening project so that we can get to children, find them before they have symptoms, treat them before that and from what I saw from Mila I feel pretty strongly that if Mila had received Milasen at birth she might never know the effects of Batten Disease, and we as a family might never know what it's like living with a rare condition, and this is a step in that direction to help. Effie Parks: Hi there, I'm Effie Parks, mom to Ford, who lives with a rare neurodevelopmental disorder called CTNNB1 and the host of the Once Upon a Gene podcast. Our show connects families facing rare diseases, offering stories from parents, insights from experts and discussions on everything from navigating grief to exploring genetic advances. It's a space for understanding, connection and empowerment. For support and inspiration on your rare disease journey, subscribe to the Once Upon a Gene podcast on your favourite podcast app and let's navigate this path together. Ana Lisa: Julia, I'm interested to hear what you think the development of individualised medicines like the N1 treatment Mila had what that means for the sort of collaboration that's required across the genomics ecosystem to achieve that. Julia: Yeah, that's a really good question. It's been seven years that I've been thinking about this kind of individualised medicine concept, you know, as Mila kind of became the pioneer in this field and I'm not a scientist, I'm not a physician, but I've learned a lot because I've been fortunate enough to be part of thousands and thousands of conversations, including with all of you and others, Genomics England, and around the world and I think what I learned and what I've learned so far is that when you have a genetic condition most genetic conditions are individually rare and unfortunately that doesn't make them very suited to have anyone go after a treatment for them because really the only way to connect a patient, a child like Mila, to a science or technology is if they're lucky enough, and I hate to use the word ‘lucky' but they're lucky enough to be part of a large kind of cohort of people, and that allows them to be, you know, commercially viable, so a company will be maybe develop if they're lucky, a treatment for that, for those people. The only other option is this sort of like Herculean effort of which myself and Dr Yu and others went through, we had to raise millions of dollars and get hundreds of people to get on board and develop a novel medicine for one person – now how scalable is that? How many times can we do that, right? And so the only people that really have access to medicines today with genetic conditions are those that are fortunate to be part of one of these two groups, but what about everyone else which is 95% of the people? And so I think what the field is learning is that we kind of have the patients and we're finding them, especially thanks to Genomics England and others, we're starting to find them more rapidly earlier, more of them, and we have these technologies to be able to not only find them but to also treat them but we just do not have the infrastructure and the processes to connect them, we have clinical trials and we have these sort of named patient route but we don't have anything else. And so I think the genomics community, especially in the UK because it's so well suited with all the efforts that we've just brought up, is really well suited to kind of try to work together to allow for access kind of no matter how many people could benefit, it's not only one, it could be six or 20, or 200 or 500. Right now there is no access for them. So I think that the UK is really well suited, starting with whole genome sequencing, that's where it begins, it begins by identifying patients early enough and getting the data that's needed in order to diagnose them and also to help with the treatment you know, and so this is how I think the UK is really leading the world right now, including in the recent announcement of the rare therapies launch pad, which Genomics England is part of, I am part of, others are part of, Oxford Harrington Rare Disease Centre, the MHRA, others are all part of really trying to be dedicated to building the infrastructure and resources and processes that are needed to connect the patients to these technologies that exist today. Rich: I've been really inspired by the conversations and the drive that you, Julia, personally have given to those conversations. And I think what's really interesting and I think it's relevant more broadly than just in rare therapies particularly, but I think that challenge of recognising the need for the system to change to be able to respond to evidence and make the response proportionate to the expectations of various people, the patients or the families who are receiving it, the system as a whole, these sorts of therapies and rare conditions as well, are just not the shape that works well with existing paradigms, but I think it's relevant you know, in other settings as well. I'm really interested in some of the conversations that I've had with you before about balancing risk and understanding how to get that right and the fact that that really needs an open discussion in public to also understand the journey and the situation that families find themselves in. I wonder if you could tell us a bit about your perspective on getting that risk balance right? Julia: Thanks for bringing that up, Rich. I think it's really, really important because to me the way we think of risk and benefit and the risk tolerance maybe is a better way to put it is the foundation of the house that we're building. So, you know, the regulatory process and everything behind that are built on top of how we think about risk. And one of the things that I regularly think about is children that have end stage cancer, and that we as a society have accepted an enormous amount of risk for a child at end-stage cancer that has no other options that's going to die no matter what, probably very rapidly and that if they don't respond to kind of some of the main line treatments then to turn to an experimental cancer treatment which carries a very high risk is considered very acceptable by our society and that everyone, the clinicians, the families, the regulators, everyone is willing to take that risk for that child because they're going to die otherwise. And they're willing to spend money and they're willing to take the risk and often perhaps to buy that child maybe three or six months of life. So then if you look at Mila and if I tell you that instead of having a rare condition that she has an end-stage genetic disease, and I use the words from cancer, from oncology, is now suddenly the discussion changes a little bit, so Mila's going to die no matter what, no child has ever lived with her form of Batten Disease and she's going to lose all of her ability, so we know the risk of not treating Mila. The risk of treating Mila in this case was an antisense oligonucleotide, which is a modality that's been around for 30+ years, tested in animals and more frequently in numerous humans across different sort of trials. And the labs that worked on Mila's medicine felt that it was safe enough and hopefully efficacious enough. And at that point why is the hurdle so exponentially higher than what it would be for a child with end-stage cancer? The way that we are thinking about these children with end-stage genetic disease and end-stage cancer, is drastically different, so we need to first, to your point Rich, we need to start realising we've already set that precedent, we don't need to be having this discussion again. We know the risk we're willing to take for a dying child when there's no other therapeutic, no other option and they're going to die no matter what. So the risk of treating Mila, versus the risk of not treating Mila is black and white and we need to do our best and then we need to not only treat Mila but we need to learn from the treatment of Mila. We need to collect those learnings, they must be iterative learnings so that the next child that's treated with an individualised different ASO or different medicine that they don't happen in silos, but that all of this knowledge comes together so that the second and the third and the fourth and the tenth and the twentieth, the process gets better and faster and eventually cheaper so that it's accessible. Rich: Yes, and that's very much back to Ana Lisa's point on the link and for diagnostics too on continuing to learn and creating a system that recognises that that's crucial to offering the best care today but also in the future and being able to make proactive decisions more confidently if you're a policymaker, knowing that you'll continue to learn, you don't have to pretend you know everything today. Julia: It's very meaningful for parents. So when parents, children, are diagnosed whether it's a fatal or life-longing debilitating or difficult disease, if you know that what's being learned from your child both from just the genomics to the potential treatments that that's helping the next child, that helps parents like me be able to continue living. And so you know, research is this kind of generic word, I wish there were a better word for it. Really what it is, is it's learnings and it's what can be learned from my child that can help the next child? Ana Lisa: And then that learning requires a lot of collaboration, which is the super important part I think of your story. Julia: Yes, it does, it requires a lot of people starting with those diagnosing the children with whole genome sequencing all the way through just to the clinicians who are in the NHS, not to mention the researchers who are then looking at the data and bettering their understanding. Ana Lisa: I think there are also, maybe one can extend some of those parallels as well, in that I think currently we sometimes think of an individualised therapy of NF1 as being something that takes a lot of time and benefits an individual, and actually if we can really collaborate we can really set up processes that work across the ecosystem and keep learning, then I'd love to dream that actually this could help many, many different patients, with many, many different types of rare conditions because actually we've learnt how to target a little bit more at source, perhaps a particular type of genetic variant, and so a bit like cancer, we're not thinking about breast cancer, we're thinking about what sub-type, what genetic causes there are and targeting those, and if we can apply that one day more broadly across rare conditions then it might be that actually once you've learnt a certain amount, that you could scale up and treat many, many different conditions, not dependent on their frequency in the population. Julia: Yeah, that's a great dream, I share that dream. Rich, what is your, you've been in this for many years, what's your dream for the next five, ten years? Rich: I guess I have, I think there's two aspects to it. I think there's two, I think there's a lot of distance left to run for us improving on the diagnostics and I think thinking back to your conceptualisation of it Julia, of sort of thinking about how we can bring that earlier, whether that is that for example we're able to sort of more proactively flag when children have you know, more than one visit to a particular type of doctor or something that makes that happen much earlier in the process. So the tooling that we now know works whether it's whole genome sequencing or something more targeted can be used earlier in the process, or whether for example in our newborn genomes programme we get that evidence that we can look for a broader range of conditions in a screening context right at the beginning of life. And I think in five to ten years we should be in a substantially different place, we'll know whether or not we think whole genome sequencing should be there but offered for every baby at birth, and we can be much more proactive also when symptoms arise. I would also hope that on the side of therapies and intervention, we're in a substantially different position and I think, I've been amazed the last five years how my level of hope has increased. I believe we should now be in a position in five to ten years where those with a therapy that is potentially there to benefit them, should at least be able to be aware of it and there will be a clear pathway by which either that is available if it's proven, or there's a pathway that we all understand about how that can be trialled. And I think we're at the beginning of that journey and I now feel it's a responsibility of ours to work through how we can bring the right pieces into place, we can't prejudge the science, but we can set up the system that makes us be able to respond to it. Julia: Yeah, I remember Rich when you and I were speaking a number of months ago and maybe you could share the story because you talked about your hope kind of changing over time as a clinician I thought that was really powerful to me. Rich: Yeah, I remember it's probably now maybe 15 years ago being asked by a family about what my advice would be to them on the likelihood of there being a treatment for their child's particular condition being available and in fact they asked me to do it in a way that I sort of provided a formal written report to them that I spent a lot of time thinking about and agonising over and was very honestly you know saying it was highly unlikely that something would become available. If I had to write that same report today it would be very different. Julia: That's so promising to hear that. I don't know, Ana Lisa, have you had any experiences like that in the past that you feel differently now of how you would approach a family like mine? Ana Lisa: I think it's a real balance between having that hope ourselves, sharing that hope with other people and not giving false hope and it's such a balance when right now more than 95% of rare diseases don't have a treatment and I think that's such a difficult position to be in right now. And everything we've been talking about gives me massive hope for the future and a lot of what we're pouring our energy and efforts into is both the diagnostics so that we're not trying to make a puzzle with missing pieces in the dark and that's mission-critical, and then the real hope that actually this will drive therapies, which is what we really want for everybody who needs a therapy to have a therapy that's effective, whether they've got a common condition, a rare condition and that's our driving ideal. So I think I'm full of hope and optimism and I hope that it will accelerate, that's what I really hope, the momentum will build and we'll get to a certain level of knowledge, we're learning the processes, we're learning the evidence, we're learning the collaborative models that are needed to really suddenly explode our ability to treat rare conditions. Julia: Yeah, you know when Mila was, I guess when I look at newborn screening in the United States and Batten CLN7, which is Mila's kind of sub-type of her condition is not on newborn screening tests because there is no treatment for it, but the whole genome sequencing that was done for Mila was the data that we got from that was what was needed to create a treatment for her and so it's an unusual case where she was sequenced and a child and a baby, a newborn in the UK could be sequenced and not only told that they have a disease, so they have time to kind of understand the disease more but also potentially kind of prepare for a treatment that might be in the pipeline, but that data is also going to help scientists and researchers create new treatments that may not be available when that child is born but that's the data that's needed to create the treatment. Right now you guys are you're really at the forefront of solving both halves of the what I consider like a rare condition, you know, global health crisis with tens and hundreds of millions of people that have you know families like mine, like my story sounds unique, it sounds impossible but there are tens of millions of other people like me, like my story sounds unique, it sounds impossible but there is tens of millions of other people like me and so to have the UK kind of leading this effort to solve both halves of the problem, the diagnostic half, you know, what disease does a child have and find it in time and also kind of the treatments, here's where we're headed, and if we don't solve both of those problems then there is no such as access, you know to a better life, so I'm really grateful for the fact that you've set a precedent for other countries because now finally there are other countries that are looking towards you and kind of really trying to do the same thing that you're doing. Rich: Yeah, well I think we feel we're uniquely placed; the NHS in the UK and for Genomics England our partnership with the NHS, together with a number of other factors and I think the recognition from government as well as the NHS over a long period that the importance and the power of genomics and the importance of for example, making changes to regulation to get it right mean that it's something that I think we feel really privileged to be in the position to even be able to ask these big questions. Julia: yeah, I think the UK is really uniquely suited to have hung their hat on genomics so that the topics you're taking on are very central, they're not kind of on the sideline, they seem whenever I'm in the UK they say that what Genomics England is doing is at the forefront and in the middle of all the discussions with academics and companies and regulators and government. What do both of you think are the, what are the biggest kind of hurdles we have coming a few years in the newborn programme or you know, any of your other initiatives? Rich: I guess all of these are big questions and I think we need, it's back to that sort of point from Ana Lisa sort of balancing the hope and expectation, I think we're uniquely placed to develop the evidence really clearly and one of the things that we again think is so important is having this conversation in the public about it and developing a shared view, almost you know, it drives policy but it's also something which I think the whole of society needs to sort of think about how we address and what we want to do collectively. I wouldn't place it as a barrier but I would highlight it as a strength that we've had and I think we're hopeful that we'll continue is that long-term commitment in terms of government and the NHS and I think that's really powerful in this space to maintain the UK's position as being able to ask these questions and to show that leadership. Ana Lisa: And to bring together, we need to work really closely across the ecosystem. So in my mind one of the challenges is if one part is missing then that person is not going to get the treatment and how we keep joining up these really important dots across the whole ecosystem to make sure that most people will one day be able to get a treatment. Julia: And all those dots honestly, those dots can never even start unless you have a diagnosis and it's in time. And so there are so many people around the world working on each of those dots that connect a child or a patient to a treatment, but if you can't even be diagnosed or if you're diagnosed too late, which is what the reality is in the world of rare conditions right, then you know, then it's a little bit futile to race to a treatment or even think if that's possible. So I think the very, very first thing is: can we find children and patients, like can we find children like Mila in time? And I love hearing the word ‘hope' that's the word that keeps me going and doing what I'm doing because if there isn't any hope it's pretty hard to keep fighting, so I'm really glad, thank you both for having hope. Okay, we'll wrap up here. Thank you to Ana Lisa and to Rich for joining me in this conversation today as we shed some light on the challenges you know that those with rare conditions are facing. We touched on the work being carried out across the Genomics ecosystem in the UK to support those living with rare conditions. If you'd like to hear more of this, please subscribe to the G Word on your favourite podcast app. And thank you so much for listening. I've been your host, Julia Vitarello. This podcast was edited by Mark Kendrick at Ventoux Digital, and produced by Naimah Callachand.  

Our experience with mRNA vaccines during the COVID pandemic showed us the possibility of  designing other RNA-based drugs in a flexible and efficient manner. Dr. Athma Pai of the UMass Chan Medical School talks about how her research into RNA therapeutics and the immense promise it holds for conquering a wide range of diseases, from. cancer to sickle cell anemia, and more.  Veteran broadcast journalists George Lewis and Judy Muller moderated the session with Dr. Pai, recorded at the Telluride Conference Center in Mountain Village, Colorado

WTAX News' Dave Dahl joins The Greg and Dan Show to talk about recently being announced as Illinois' first Outstanding Father from the Illinois Council on Responsible Fatherhood. Dahl receives the award for creating the best life for both of his sons. His oldest son, Clifford, has a rare neurological disease called Batten Disease and has continued to persevere despite losing his vision and currently being bed-ridden.  See omnystudio.com/listener for privacy information.

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2022.10.07.511360v1?rss=1 Authors: Swier, V. J., White, K. A., Johnson, T. B., Wang, X., Han, J., Pearce, D., Singh, R., Rogers, C. S., Brudvig, J., Weimer, J. M. Abstract: Mouse models of CLN3 Batten disease, a rare lysosomal storage disorder with no cure, have improved our understanding of CLN3 biology and therapeutics through their ease of use and a consistent display of cellular pathology. However, the translatability of murine models is limited by disparities in anatomy, body size, life span, and inconsistent, subtle behavior deficits that can be difficult to detect in CLN3 mutant mouse models, limiting their utility in preclinical studies. Here we present a longitudinal characterization of a novel miniswine model of CLN3 disease that recapitulates the most common human pathogenic variant, an exon 7-8 deletion (CLN3{Delta}ex7/8). Progressive pathology and neuron loss is observed in various regions of the CLN3{Delta}ex7/8 miniswine brain and retina. Additionally, mutant miniswine present with vision impairment and motor abnormalities, similar to deficits seen in human patients. Taken together, the CLN3{Delta}ex7/8 miniswine model shows consistent and progressive Batten disease pathology and behavioral impairment mirroring clinical presentation, demonstrating its value in studying the role of CLN3 and safety/efficacy of novel disease modifying therapeutics. Copy rights belong to original authors. Visit the link for more info Podcast created by PaperPlayer

Our guest this week is Chris Velona of North Los Angeles, CA. Chris and his x-wife, Teresa, are the proud parents of two boys; Gage (16) and Sebastian (18), who was diagnosed with Batten Disease CLN8, a rare neurodegenerative disorder. We'll learn about Chris' journey, which includes his own battle with alcoholism, shouldering the Batten Disease diagnosis, and creating Project Sebastian, a non-profit to support families touched by Batten Disease and rare disease. We also learn about a number of organizations that have played an influential role in their lives, including: Charlotte & Gwyneth Gray Foundation, the Batten Disease Support & Research Association, and Sebastian Velona Foundation, started by Teresa Fox, Sebastian's mom. It's a fascinating story and one we'll hear this week on the Special Fathers Network Dad to Dad Podcast. LinkedIn – https://www.linkedin.com/in/christophervelona/ Email- Info@projectsebastian.org Project Sebastian – https://www.projectsebastian.org Phone – (661) 414-4856Charlotte & Gwyneth Gray Foundation - https://www.curebatten.org BDFA – http://www.bdfa-uk.org.uk/ Batten Disease Support & Research Association (BDSRA) – https://www.bdsra.org/ Special Fathers Network - SFN is a dad to dad mentoring program for fathers raising children with special needs. Many of the 500+ SFN Mentor Fathers, who are raising kids with special needs, have said: "I wish there was something like this when we first received our child's diagnosis. I felt so isolated. There was no one within my family, at work, at church or within my friend group who understood or could relate to what I was going through."SFN Mentor Fathers share their experiences with younger dads closer to the beginning of their journey raising a child with the same or similar special needs. The SFN Mentor Fathers do NOT offer legal or medical advice, that is what lawyers and doctors do. They simply share their experiences and how they have made the most of challenging situations. Special Fathers Network: https://21stcenturydads.org/about-the-special-fathers-network/Check out the 21CD YouTube Channel with dozens of videos on topics relevant to dads raising children with special needs - https://www.youtube.com/channel/UCzDFCvQimWNEb158ll6Q4cA Please support the SFN. Click here to donate: https://21stcenturydads.org/donate/

Today's episode comes with a bit of a warning, as this one might tug at your heartstrings a little harder than usual. I hope you'll join me as Amanda Beedle shares her journey with her two little girls. Amanda's daughters, Annabelle and Abigail, were both diagnosed at an early age with an extremely rare genetic disorder called Batten disease. It's so rare that, on average, only 20 children are born each year in the U.S. with this disorder. Before Annabelle's 4th birthday, she had her first seizure. And then they noticed some coordination and language problems. In December of 2020, both of her girls were diagnosed with Batten disease. For those that haven't heard of Batten disease, there are 13 different types. The main issue is that it causes the body to not produce an enzyme that gets rid of cellular waste. Over time, children slowly lose their ability to walk, talk and eat. There is only one treatment available, which involves injecting a synthetic enzyme directly into their brain, every 2 weeks. Even with this treatment, their life expectancy is still only 6-12 years. Amanda shares hopeful and inspiring messages about navigating her daughters' treatments (which they will need for life), choosing joy in their journey, and the importance of community. You can also follow their story on their Facebook page, Beedles Braving Batten. Key Takeaways with Amanda Beedle How normal and peaceful her pregnancies and deliveries were, for both of her girls. Only 20 cases of Batten disease are diagnosed each year, and there was only a 25% chance that her second child would also be diagnosed. Navigating the recurring doctor appointments, treatments, and everyday care with a lighter heart, especially on the harder days. The importance of accepting help from your community, and how showing up in small ways can make a huge difference. You can only control the things within your control. Find ways to smile on the journey, it will all come together in the end. Learning to celebrate the achievements that make sense for your family, instead of the more traditional milestones. Show Notes: Get Full Access to the Show Notes by visiting: MatteasJoy.org/22. Rate & Review If you enjoyed today's episode of The Joy In The Journey, hit the subscribe button on Apple Podcasts, Spotify, Stitcher, or wherever you listen, so future episodes are automatically downloaded directly to your device. You can also help by providing an honest rating & review over on Apple Podcasts. Reviews go a long way in helping us build awareness so that we can impact even more people. THANK YOU!

Medical Diagnosis Series:  "A Family's Journey with Batten Disease Part 1" with Danny and Bekah Bowman Danny and Bekah have been married for 16 years and are parents of two incredible boys, Titus and Ely.  Danny is the Head X- Country and Track and Field Coach for Northwest Nazarene University, where he invests in the student-athletes in a holistic way that prepares them to launch into the world. He enjoys painting and gardening in his free time. Bekah is the Executive Director for a local CASA program, author of Can't Steal My Joy, and rare disease advocate. She loves to share the hope and goodness of Jesus in really dark, difficult places. She enjoys working out, reading and coffee dates with girlfriends in her free time. Episode Links and Resources: Bekah Bowman www.bekahbowman.com Facebook: @Team4TitusEly (Team 4 Titus & Ely) Instagram: @bekahsbowman   Connect with Us: If you enjoy this podcast please share us with others and be sure to follow us so won't miss an episode.  We'd love to hear from you so please leave us a comment or rating and connect with us on social media or on our website. Website: https://hopeonthehardroad.org Instagram:https://www.instagram.com/hopeonthehardroad/ Facebook:https://www.facebook.com/hopeonthehardroad/ Facebook Group:https://www.facebook.com/groups/2621447987943459/?source_id=105530184205752 Free Youtube Resource Library https://www.youtube.com/playlist?list=PLsSAfvTkSy87X-fEqtVR2qvo7w9UQBuxz

When Amanda Gilpin first noticed some signs that her little girl Hollie was lagging a bit at school, she wasn't too concerned. But when she developed more sinister symptoms she sought medical help, and the truth was terrifying. Two years ago, Hollie was diagnosed with an extremely rare and incurable form of childhood dementia, known as Batten Disease - she's one of just two children in Australia who have it. Now, her family is hoping for a miracle, travelling far away from their home in Western Australia's Pilbara over to the US , hoping Hollie will one of only three children in the world to be selected for a groundbreaking new trial. https://www.gofundme.com/f/gofundmecomfhope-for-hollieSPONSOER: emMOO designs was created by new mum and business owner Steph Sullivan. Steph loves beautiful baby clothes and accessories and sells personalised lush cotton towels appliquéd with an individual initial in liberty, gingham and linen prints, along with gorgeous practical baby bibs and stunning gift boxes for babies and mums that are posted Australia wide. Have a look online at www.emmoodesigns.com.au.

Last week on the show, we introduced you to 5 year old Harper who was sadly diagnosed with Batten Disease at the age of 3. Jase & Lauren wanted to help the family create some beautiful memories with him, and it was truly a joyous week for everyone involved. Unfortunately over the weekend though, things took a bad turn and this morning we had to deliver the tragic news. Learn more about your ad choices. Visit megaphone.fm/adchoices

Last week on the show, we introduced you to 5 year old Harper who was sadly diagnosed with Batten Disease at the age of 3. Jase & Lauren wanted to help the family create some beautiful memories with him, and it was truly a joyous week for everyone involved. Unfortunately over the weekend though, things took a bad turn and this morning we had to deliver the tragic news.See omnystudio.com/listener for privacy information.

This week we've been getting to know beautiful little Harper. He's only 5-year-old, and at the age of 3 he was diagnosed with a terminal and extremely rare disorder called Batten Disease. All his family have wanted is to raise awareness for Batten Disease, for everyone to know Harper's name and to make some great memories as a family. That's exactly what Jase & Lauren set out to do, and today the family was given one final surprise. Love you guys x Learn more about your ad choices. Visit megaphone.fm/adchoices

This week we've been getting to know beautiful little Harper. He's only 5-year-old, and at the age of 3 he was diagnosed with a terminal and extremely rare disorder called Batten Disease. All his family have wanted is to raise awareness for Batten Disease, for everyone to know Harper's name and to make some great memories as a family. That's exactly what Jase & Lauren set out to do, and today the family was given one final surprise. Love you guys xSee omnystudio.com/listener for privacy information.

Harper is the special little boy who Jase & Lauren wanted to do something special for when they heard he was sadly diagnosed with Batten Disease. Today is the day they reveal to his mum and the rest of Melbourne what they have in store for him! Love you guys xSee omnystudio.com/listener for privacy information.

This week we met 5 year old Harper who has been diagnosed with Batten Disease. Jase & Lauren sat down with his parents Haidee and Matthew to find about more about Harper ahead of our Mission Made Possible where some amazing memories will be created for him and his family. Learn more about your ad choices. Visit megaphone.fm/adchoices

This week we met 5 year old Harper who has been diagnosed with Batten Disease. Jase & Lauren sat down with his parents Haidee and Matthew to find about more about Harper ahead of our Mission Made Possible where some amazing memories will be created for him and his family.See omnystudio.com/listener for privacy information.

Harper is the special little boy who Jase & Lauren wanted to do something special for when they heard he was sadly diagnosed with Batten Disease. Today is the day they reveal to his mum and the rest of Melbourne what they have in store for him! Love you guys x Learn more about your ad choices. Visit megaphone.fm/adchoices

Yesterday we introduced you to 5 year old Harper and his family. Harper was sadly diagnosed with a terminal disease at the age of just 3, and this week Jase & Lauren want to help the family create some beautiful memories together. Dr Ineka Whiteman joined them to explain more about Batten Disease.See omnystudio.com/listener for privacy information.

Yesterday we introduced you to 5 year old Harper and his family. Harper was sadly diagnosed with a terminal disease at the age of just 3, and this week Jase & Lauren want to help the family create some beautiful memories together. Dr Ineka Whiteman joined them to explain more about Batten Disease. Learn more about your ad choices. Visit megaphone.fm/adchoices

This week we are introducing you to a very special young boy by the name of Harper. Harper is only 5 years old, and at the age of 3 he was diagnosed with a rare disorder called Batten Disease. Jase and Lauren would love to bring Harper and his family some joy in this very difficult time, so they're kicking off Mission Made Possible with something very special for the family.See omnystudio.com/listener for privacy information.

This week we are introducing you to a very special young boy by the name of Harper. Harper is only 5 years old, and at the age of 3 he was diagnosed with a rare disorder called Batten Disease. Jase and Lauren would love to bring Harper and his family some joy in this very difficult time, so they're kicking off Mission Made Possible with something very special for the family. Learn more about your ad choices. Visit megaphone.fm/adchoices

Medical Diagnosis Series:  "A Family's Journey with Batten Disease Part 1" with Danny and Bekah Bowman Danny and Bekah have been married for 16 years and are parents of two incredible boys, Titus and Ely.  Danny is the Head X- Country and Track and Field Coach for Northwest Nazarene University, where he invests in the student-athletes in a holistic way that prepares them to launch into the world. He enjoys painting and gardening in his free time. Bekah is the Executive Director for a local CASA program, author of Can't Steal My Joy, and rare disease advocate. She loves to share the hope and goodness of Jesus in really dark, difficult places. She enjoys working out, reading and coffee dates with girlfriends in her free time. Episode Links and Resources: Bekah Bowman www.bekahbowman.com Facebook: @Team4TitusEly (Team 4 Titus & Ely) Instagram: @bekahsbowman   Connect with Us: If you enjoy this podcast please share us with others and be sure to follow us so won't miss an episode.  We'd love to hear from you so please leave us a comment or rating and connect with us on social media or on our website. Website: https://hopeonthehardroad.org Instagram:https://www.instagram.com/hopeonthehardroad/ Facebook:https://www.facebook.com/hopeonthehardroad/ Facebook Group:https://www.facebook.com/groups/2621447987943459/?source_id=105530184205752 Free Youtube Resource Library https://www.youtube.com/playlist?list=PLsSAfvTkSy87X-fEqtVR2qvo7w9UQBuxz

On this episode of CoRDS Cast, Ben sits down with Jacquelyn Stockdale who is the mother of Isla. Isla is an amazing child living with CLN3 Batten Disease. Isla first started having issues with her eyesight and was later on seen by an ophthalmologist. Later down the road, Isla was diagnosed with CLN3 Batten Disease. Due to Isla being diagnosis early, her family was able to really focus on strengthening every day. You will want to take time to listen to this amazing heartfelt podcast of Jacquelyn and her daughter Isla's journey. To learn more about Isla's story please visit: www.islasfaith.com Enjoy!

Why are advocacy and accessibility so important to rare diseases such as Batten Disease? On this week’s Few & Far Between podcast episode, Biorasi’s Becky Knockemus talks with Amy Fenton Parker, President and CEO at Batten Disease Support and Research Organization (BDSRA).

ONCE UPON A GENE - EPISODE 105 Raising a Son with Batten Disease and the Importance of Never Giving Up with Project Sebastian Founder Christopher Velona  Christopher Velona is a rare dad on a mission, driving the goals of Project Sebastian. He joins me to share open, honest and vulnerable experiences from his life since his son Sebastian was diagnosed with Battens disease. EPISODE HIGHLIGHTS Can you tell us about your family? I have two boys, ages 16 and 18, Gage and Sebastian. Sebastian has a rare disease called Batten disease variant CLN8. As a result of seizures, we were misdiagnosed with epilepsy. When Sebastian later had an onset of issues unrelated to epilepsy such as tripping, speaking, difficulty seeing and fine motor skill loss, we were referred for genetic testing and the diagnosis of Batten disease was confirmed.  What did you do with the diagnosis? I did everything the doctor said not to do. I went to WebMD and Google, scouring the internet for Batten disease and reading all the horrible stories online. I was also going through a divorce at the time and I was very angry, sad, resentful and lost. As the diagnosis only further drove us apart, I didn't have the support of a partner.  What has helped you transition into being a single dad and managing Sebastian's diagnosis? I had the support of my family and friends. I'm sober from drugs and alcohol for almost 26 years and I believe in Alcoholics Anonymous, applying the twelve steps to my daily life. With life-changing news, I had to really rely on my tools or face depression. I didn't want to believe it and it was challenging, which led to depression. I used the steps, went to meetings and was able to pull myself out of the depression. I found a mom that gave it to me straight- Kristen Gray from Charlotte and Gwenyth Gray Foundation. She has two children with Batten disease CLN6. She's been a great friend and great support system.  Can you tell us about Project Sebastian? Currently, there's no cure for Batten disease, but there are treatments available to prolong the life of the child. Project Sebastian makes a lot of noise, attacking advocacy and research efforts from all sides. I called my government officials and we co-authored Senate Joint Resolution 25 for Batten Disease Awareness Weekend, which went through the California State Senate and House and unanimously passed. As a result, the first weekend in June is Batten Disease Awareness Weekend for the state of California. RESOURCES AND LINKS MENTIONED Charlotte and Gwenyth Gray Foundation https://www.curebatten.org/ Neurogene https://www.neurogene.com/ Project Sebastian Website https://www.projectsebastian.org/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

In this episode, I interview Ali, whose son, Joshua, is a young fighter of Batten Disease. Ali Glover is mum to Joshua who was diagnosed with Batten Disease CLN6 in 2020. Every day is a challenge to her family, with a child fighting this horrendous disease - she finds his courage and perseverance through everything particularly amazing and inspiring. Now, Ali has started a Facebook group for those who would like to follow along on Joshua's journey. Here, she shares, the ups, downs, raises awareness, and collects funds. Follow along on her and Joshua's advocacy journey! Facebook group: https://www.facebook.com/groups/305346063468953 --- Support this podcast: https://anchor.fm/theraredisorderpodcast/support

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Roxy and Tammin talk with Kristen Gray about the rare neurodegenerative disorder Batten Disease.

Facebook.com/MicahBentleysJourney Facebook.com/ThompsonRunningShow Facebook event: https://www.facebook.com/events/169334331787024 What is Batten Disease: https://www.ninds.nih.gov/disorders/patient-caregiver-education/fact-sheets/batten-disease-fact-sheet#3063_1

It’s not that she’s not grieving, it’s that she’s put her hope in someone that won’t disappoint. Something greater is happening in her grief.On our last episode of the podcast, Bekah Bowman shared about finding beauty and goodness in the middle of unthinkable loss. As a coach's wife and mother to two young boys, Titus and Ely, Bekah served as a children's pastor and teacher until Batten disease came knocking at her door. This week, she is talking about her journey with grief as she walked through the fatal diagnosis for both of her sons. Hear how she’s learned to hold both pain and joy simultaneously, and how God has used Bekah’s community to minister to her when she’s been unable to support herself.If you are journeying with grief today, subscribe to the podcast. Be encouraged by Bekah’s conversation about experiencing Jesus in a whole new way in the middle of brokenness and loss. Read Can’t Steal My Joy: The Journey to a Different Kind of Brave.Find Bekah on Instagram and Facebook. Questions or comments? Email Crystal at podcast@joniandfriends.orgSupport Joni and Friends to help make this podcast possible.Follow Joni and Friends on Facebook, Twitter, Instagram, and YouTube.Thank you for helping others find this podcast by leaving us a 5-star review! *Joni and Friends envisions a world where every person with a disability finds hope, dignity, and their place in the body of Christ. Together, our mission is to glorify God as we communicate the Gospel and mobilize the global church to evangelize, disciple and serve people living with disability.Joni and Friends was founded in 1979 by Joni Eareckson Tada who in a diving accident was left a quadriplegic at 17 years old. Ministry began as Tada, joined by friends around her kitchen table, responded to letters she received from people with disabilities in search of support. For more than 40 years, the ministry has grown to serve thousands of people impacted by disability worldwide: delivering more than 191,000 wheelchairs and Bibles through Wheels for the World and provided Christian care to 64,000 special needs family members through Family Retreats. The organization also equips individuals and churches with disability ministry training and provides higher education courses through the Christian Institute on Disability. For more encouragement, download the Joni and Friends Radio Program podcast in English or Spanish, and view inspirational videos on the Joni and Friends website.www.joniandfriends.org*

How do you stay grounded when your life path takes an unexpected turn? Is it possible to hold pain in one hand and joy in the other? This week on the podcast, Bekah Bowman is sharing her journey of finding beauty and goodness amid unthinkable loss and grief.Bekah is a coach's wife and mother to two boys, Titus and Ely. She served as a children's pastor and teacher until Batten disease came knocking at her door. Facing the heartbreak of a fatal diagnosis for both children, Bekah journeyed through dark valleys of death and grief. But it's been in these deeply broken places that she’s experienced Jesus in a whole new way.If you are in a season of mourning or struggling with the heaviness of life, hear where Bekah has found hope and joy. Be encouraged to see wholeness in cracks, courage in the broken-hearted, and bravery in the act of letting go.Read Can’t Steal My Joy: The Journey to a Different Kind of Brave.Find Bekah on Instagram and Facebook. Questions or comments? Email Crystal at podcast@joniandfriends.orgSupport Joni and Friends to help make this podcast possible.Follow Joni and Friends on Facebook, Twitter, Instagram, and YouTube.Thank you for helping others find this podcast by leaving us a 5-star review! *Joni and Friends envisions a world where every person with a disability finds hope, dignity, and their place in the body of Christ. Together, our mission is to glorify God as we communicate the Gospel and mobilize the global church to evangelize, disciple and serve people living with disability.Joni and Friends was founded in 1979 by Joni Eareckson Tada who in a diving accident was left a quadriplegic at 17 years old. Ministry began as Tada, joined by friends around her kitchen table, responded to letters she received from people with disabilities in search of support. For more than 40 years, the ministry has grown to serve thousands of people impacted by disability worldwide: delivering more than 191,000 wheelchairs and Bibles through Wheels for the World and provided Christian care to 64,000 special needs family members through Family Retreats. The organization also equips individuals and churches with disability ministry training and provides higher education courses through the Christian Institute on Disability. For more encouragement, download the Joni and Friends Radio Program podcast in English or Spanish, and view inspirational videos on the Joni and Friends website.www.joniandfriends.org*

On this MADM, Hayley Clarke is sharing about Batten Disease and her 4-year-old daughter's journey with Batten. Listen & share.

On this edition of The Mary Faye Headrick Good Deed Segment, I am talking with Haley Clarke of Swindon, England, about her daughter, Addy, and her Batten Disease diagnosis. I hope you will please ignore the feedback on my end and get the message. This is a very important effort for a special little girl. Listen & share.

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2020.05.05.079350v1?rss=1 Authors: Johnson, T. B., White, K. A., Cain, J. T., Langin, L., Pratt, M. A., Brudvig, J. J., Booth, C. D., Timm, D. J., Davis, S. S., Meyerink, B., Likhite, S., Meyer, K., Weimer, J. M. Abstract: CLN8 disease is a rare form of neuronal ceroid lipofuscinosis caused by biallelic mutations in the CLN8 gene, which encodes a transmembrane endoplasmic reticulum protein involved in trafficking of lysosomal enzymes. CLN8 disease patients present with myoclonus, tonic-clonic seizures, and progressive declines in cognitive and motor function, with many cases resulting in premature death early in life. There are currently no treatments that can cure the disease or substantially slow disease progression. Using a mouse model of CLN8 disease, we tested the safety and efficacy of an intracerebroventricularly (ICV)-delivered self-complementary AAV9 (scAAV9) gene therapy vector driving expression of human CLN8. A single neonatal injection was safe and well-tolerated, resulting in robust transgene expression throughout the brain and spinal cord from 4 to 24 months, reducing histopathological and behavioral hallmarks of the disease and completely restoring lifespan from 10 months in untreated animals to beyond 24 months of age in treated animals. These results demonstrate, by far, the most successful rescue reported in an animal model of CLN8 disease, and supports gene therapy as a promising therapeutic strategy for this disorder. Copy rights belong to original authors. Visit the link for more info

Wife, mother, advocate, and businesswoman, Kristen Gray shares her story about the heartbreaking battle into the unknown...Batten Disease. "In my wildest of wildest fears did I ever think what it ultimately would be" From normalcy to misdiagnosis to MRIs, Kristen Finds strength and power in her partner. Kristen and Gordon Gray have paved the way for many doctors, physicians and pharmaceutical companies to start thinking outside the box, as both of their children fight for their lives. Gordon Gray, a Hollywood producer, turned childhood disease advocate was able to rally some of his Hollywood friends to create an awareness campaign that catapulted Batten disease research. Truly a power couple. There are no treatment options or cure at this time for any variant of Batten disease. It will leave your children blind, immobile and cognitively impaired, and ultimately, dead before a full life of normalcy. Kristen reveals the one hard lesson learned..." research, research, research! Listen on as the co-founder of Charlotte and Gwenyth Gray Foundation Refuses to listen to the old ways as she and her husband move science forward into the Gene therapy space to help their girls and many others in the process. To find out more about the Charlotte and Gwyneth Gray Foundation please visit: http://www.curebatten.org/ http://www.thegrayacademy.org/ Facebook: Curebatten Thegrayacdemy Instagram: @curebatten To reach Kristen directly: graygirlsfoundation@gmail.com

Lauren Black, Distinguished Scientist in the Scientific advisory services at Charles River Labs, shares the story of how doctors came up with a customized drug to treat one specific patient with Batten disease. Plus: learn about how you really can tell if someone’s sick just by looking at them. In this podcast, Cody Gough and Ashley Hamer discuss the following story from Curiosity.com about how you really can tell someone’s sick just by looking at them: https://curiosity.im/2D6XTo8  Additional sources: Drug Regulation in the Era of Individualized Therapies | The New England Journal of Medicine — https://www.nejm.org/doi/full/10.1056/NEJMe1911295 Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease | The New England Journal of Medicine — https://www.nejm.org/doi/full/10.1056/NEJMoa1813279 Amazon smart speaker users: you can listen to our podcast as part of your Amazon Alexa Flash Briefing! Just click or tap “enable” here: https://curiosity.im/podcast-flash-briefing. 

Today we hear from David Pearce, PhD, President of Innovation and Research, IRDiRC (http://www.irdirc.org/) ) Dr. Pearce’s rare disease background emanates from publishing over 100 research papers on Batten Disease.  David talks to us about how he got involved in Batten Disease research and where that work has taken him since.   In his role as President of Innovation and Research at Sanford he is responsible for overseeing the development of research programs across Sanford’s nine-state footprint, including more than 450 researchers, eight research centers and more than 300 ongoing clinical trials. This includes a national registry for rare diseases, Coordination of Rare Diseases at Sanford ( CoRDS (https://research.sanfordhealth.org/rare-disease-registry) ). The International Rare Disease Research Consortium comprises more than 50 international entities.  

Genome mapping has made personalized medicine achievable, but how can the FDA balance safety requirements with the speed that is necessary for desperate patients?

Batten Disease shows no mercy. It is one of the cruelest, gut-wrenching diseases I have ever seen. The fact that it happens to children makes Batten Disease one of the most bitter cups one can be handed in life. This is the story of the […]

Today's interview is with a guest I've previously had on the Extra Mile, Julia Vitarello. If you haven't heard that episode, I urge you to. It is one of the most moving episodes I have ever recorded. In that episode, which was around two years ago, Julia told us the story of her daughter Mila, who at age 6 was diagnosed with an extremely rare and currently incurable neurodegenerative disease called Batten Disease. At the time, Julia was embarking on funding a very expensive clinical trial to try to slow the progression of the disease. Until then, there was little-to-no research or any resources for Batten Disease. And even less about the unique type that Mila has.  Julia went on to start Mila's Miracle Foundation to Stop Batten and set off a series of fast-moving and ground-breaking innovations in research and medicine which have begun to pave a path for treatment for hundreds of similar neurodegenerative diseases.  You won't believe this story. When I first heard it, it hit me very hard. And it has hit me just as hard today. As a parent, I cannot imagine what it would be like to watch any child, much less your own, go through something so devastating. Julia's fight for Mila, and now for millions of other suffering families, is nothing short of heroic.  A huge thank you to Julia for taking the time to walk with me and continue to share Mila's story with us. Click HERE to help support the fight against Batten Disease.  #EveryMileMatters 

Jason and Heather Hansen share their inspiring story of not only loss but incredible love. 5 years ago the Hansen’s lost their beautiful 16 year old daughter Kenndey after a long and difficult struggle with Batten disease. Their miraculous journey is one of hope and faith in which they have been able to turn pain into purpose, and through the sharing of Kennedy’s story impacted millions of lives. They travel the world together speaking and keeping Kennedy’s legacy alive. Director TC Christensen was so moved by Kennedy that he produced the film "Love, Kennedy" which shines a beacon of light on the darkest of human circumstances.

Dr. Jason Crowell discusses Richard Robinson's article on an antisense oligonucleotide therapy for a rare variant of Batten Disease. To learn more, read the article "An Antisense Oligonucleotide Therapy Looks Promising for a Rare Form of Batten Disease" by Robinson in the June 20, 2019, issue of Neurology Today—available online at http://bit.ly/NT-Batten.

Kristen Gray left her job to be a stay at home mom with her two young girls. In 2015, Charlotte (4) and Gwenyth (2) were diagnosed with Batten disease: a fatal disorder that would leave them blind and unable to walk, play or speak. Kristen and her husband were unwilling to accept this fate. With a breathtaking swell of love and support, they raised millions of dollars to fund the first clinical trial and real hope for a cure. Her story is a testament to the power of love (and not taking no for an answer.)   In Today’s Episode: A mother’s intuition and stopping at nothing for answers (3:37) The day her 4 year old daughter, Gwenyth, receives the fatal diagnosis (12:23) The call that her youngest daughter, Charlotte, shares the same diagnosis (15:26) A family In search of life saving treatments and hope (31:03) Charlotte and Gwen’s results after the first ever clinical trial (32:17) A mom on a mission builds a school for her daughter and other families as they search  for some sense of normalcy and moments of joy and connection (35:07)   Wise Words: “They shut the door and he said, “Your daughter Charlotte has Batten Disease CLN6.  It’s a neurodegenerative brain disease. It’s rare. It’s fatal and there is no cure.  We know one other child that has this diagnosis in India.” He slapped down a pamphlet that gave us more information about the disease and said, “Prepare your home for wheelchairs and kiss your daughter every day.”  Then he said, “By the way, your younger daughter has a 25% chance of having the same diagnosis.” (12:23) “You could go one of two ways, you either bond together and just fight this fight together and support each other or, you grow apart and you both carry on in your own experiences in whatever way that is.” (16:42) “I don’t think Gordon and I ever allowed ourselves to think this was going to be a terminal thing for our girls.  We decided to carry the mindset that we were going to fight this and we were going to overcome it.” (17:19) “You definitely learn to appreciate the small things in life and take each day as a blessing with gratitude.  Everyday, Gordon and I would wake up and wonder what condition Charlotte would be in. Is she going to get out of bed and is she going to walk or is she going to get out of bed and fall.  We really lived each moment as it came and really celebrated the little things that were happening each day.” (20:30)   Links Mentioned: www.curebatten.org www.thegrayacademy.org See acast.com/privacy for privacy and opt-out information.

Sebastian Velona is a happy kid. He is tough and resilient in the face of adversity, something many kids his age struggle to embody. Sebastian has it especially tough, however. He was diagnosed at a young age with the CLN8 variant of Batten Disease, a rare genetic condition that causes seizures, blindness, and cognitive decline. After Sebastian received the diagnosis, his father, Christopher, did what any caring parent would do: he exhausted all avenues in search of treatment options, and when he didn’t find what he was looking for, he spearheaded his own movement to fundraise for the development and research of groundbreaking new ways to treat the disease. The creation of Project Sebastian has lead Christopher to knock on the doors of senators, create The Project Sebastian Podcast, and most importantly, generate a caring community for those living with Batten Disease and their families. The number of people living with Batten Disease today is inconclusive, as is the prospect for a cure. However, that does not stop Christopher, but rather fuels his mission to find one. In this episode Christopher discusses how his son’s disease was the catalyst to go above and beyond, finding his own answers when he was told there were none. He ruminates on the ways that creating a podcast as a part of his mission to help his son has in fact helped him to overcome his own fears, and opened their family to a greater community that holds the same goal close to their hearts. Above all, Christopher emphasizes the value of awareness – that in the face of a seemingly bleak diagnosis, sharing his family’s story has been the greatest asset in making progress towards finding a cure. Key Topics Christopher describes what Batten Disease is. [01:18] Christopher’s personal relationship with Batten Disease. [01:42] The impetus to start The Project Sebastian Podcast. [04:41] How many people are affected by Batten Disease. [05:24] Current research on treatment options. [06:53] Sebastian’s story. [08:09] Why podcasting has been a great platform for support. [10:26] Advice for others considering podcasting to support their cause. [15:24] How to support Project Sebastian and those affected by Batten Disease. [17:52] The importance of getting your politicians involved. [18:50] The value of awareness. [20:06] See the show notes at http://www.causepods.org/podcast/project-sebastian Thanks for listening!

What would you do if you got news today that your child was going to die? What would that cause you to do, would you drop everything and run in the opposite direction or would you face it head on? On this episode of BEFULFILLED, you’ll hear from the director of Project Sebastian, Christopher Velona. In his conversation with Tony, Christopher opens up about his son Sebastian and his fight against Batten Disease, his definition of success, fundraising goals they’ve reached, how their family has rallied together, and so much more....Find www.projectsebastian.org/ here, or connect on Facebook at www.facebook.com/projectsebi/.You can connect with Tony on his site, www.tonygrebmeier.com/, or in the BEFULFILLED Facebook group here: www.facebook.com/groups/befulfilled/. See acast.com/privacy for privacy and opt-out information.

Greg Lopez~We discuss the everyday challenges of an Autistic adult and a father of 5 who is relentless in helping others in the batten community

In this episode of CoRDS Cast, we sit down with Jennifer VanHoutan from Noah's Hope to hear about their work in Batten Disease advocacy and sponsored research. You'll also hear from Sanford's own Dr. Jill Weimer about her Batten Disease research program and about how animals play a role in finding answers and developing treatments. Enjoy!

Today we have Christopher Velona on the show. He is a sober father, philanthropist, CBD advocate, and Gene Therapy enthusiast, and Founder Project Sebastian. Project Sebastian is a charity that is racing for a cure to Batten Disease, a fatal and degenerative neurological disorder that is taking his son's life bit by bit each day. Chris is a grateful recovering alcoholic. He grew up in a wealthy family in California and fell into heavy drinking early on in life. He was able to skirt the consequences because he was well-connected. The party did not stop until he destroyed all his relationships and his parents disowned him. Finally, he knew he had to end the insanity and went to Alcoholics Anonymous. Now Chris believes his purpose in life is to help other humans. CLEAN DATE: September 28th, 1996 Listen to Chris's story! For the show notes and links mentioned in this episode, go to theshairpodcast.com/176.   Join SHAIR SPACE - the Empowerment Network http://shairspace.net/ Support The SHAIR Podcast: Donate with PayPal -  http://theshairpodcast.com/donate/ Facebook Private Group - http://theshairpodcast.com/group Amazon Link - http://theshairpodcast.com/amazon  

Local mum, Kate Toohey, is urging the NHS to fund a drug which she believes could help her 6 year old son, James, to lead a normal life after he was diagnosed with the extremely rare 'batten disease'. The condition can lead to dementia and also stop the body from working. She told Mick Coyle how James was lucky enough to go on a medical trial for a drug that can slow down the progression of the disease and even stabilise it. Kate is now urging the NHS to fund the drug which costs £500,000 a year by backing a national petition which you can sign here: http://bit.ly/2oAxh89

Episode 4 of Columbus Cares with Travis Kendall and Katie Thomas, a podcast sharing the stories of Columbus, Ohio non-profits. The Batten Disease Support And Research Association 12/6/2017 Show how much Columbus Cares by supporting The Batten Disease Support And Research Association: Christina Clark: cclark@bdsra.org Webpage: https://bdsra.org/ Facebook: https://www.facebook.com/bdsra/

In this is a special and very important interview, I walk with Julia Vitarello in Boulder, Colorado. Julia is fighting a fight that none of us would ever want to fight. Her young daughter Mila has Batten Disease, a rare and fatal neurodegenerative disease.  It is especially brutal because it is so rare that Julia and her family have almost nobody to turn to for help. But they have a ray of hope because, through Julia's tireless efforts, she was able to get a clinical trial approved through Harvard University in Boston Children's Hospital.  Now they need to raise the money in order for the trial to go forward. Which is why we're putting out a beacon to let Mila, Julia and their family know that we've got their backs.  If you're as moved by their story as I am, please click here to visit their GoFundMe page to make a donation.  If we all make a small donation, we can all make a big impact. I know we all have a lot of causes that are calling for our attention and our donations.  And I know it seems impossible to support all of them.  But we can make a difference for this one.  So, please, walk a mile with Julia, Mila and their family in your heart.  And please make a donation to support their clinical trial. Thanks everyone.  #EveryMileMatters! Subscribe on iTunes / Subscribe on Stitcher / Subscribe on Google Play     The post Never Give Up, with Julia Vitarello, One Mom Fighting To Save Her Daughter's Life appeared first on Charity Miles.

We’re going to explore the world of Batten Disease. Through a series of interviews and conversations over the course of a couple of weeks, we have collaborated with some of the people at the helm of creating a national voice for Batten Disease. We have decided to use this platform to help shine some public light on this fatal disease, while also promoting an event called Everything Matters that is coming up on June 3rd at Amri Studios located at 1826 NW 18th Ave here in Portland, OR. You can find ticket info to this event at aquanutsphotography.com.

David Pearce created the Coordination of Rare Diseases at Sanford or CoRDS registry as a national resource that could help accelerate research into rare diseases. We spoke to Pearce, president of Sanford Research, director of Sanford Children’s Health Research Center, and the Global Genes 2012 Champions of Hope honoree for Research & Science, about his own research into the neurodegenerative disorder Batten Disease, how that led to the development of CoRDS, and the role patient registries can play in accelerating rare disease research and the development of new therapies. This is an encore presentation of an interview with Pearce that originally aired April 2015.

"Make decisions that you think are right, not decisions that you think you have to make." - Cynthia Johnson Cynthia Johnson is an entrepreneur, marketing professional, author and keynote speaker. She was previously Partner & Director of Marketing at RankLab, a digital marketing agency listed in Inc. Magazine's Fastest Growing Private Companies in 2015. In July of 2015 RankLab was acquired by American Addiction Centers and Cynthia is now their Director of Brand Development. She is the Educational Director and Global Board Member at Social Media Club, a member of YEC (Young Entrepreneurs Council), Advisory Board Member for nGage.Social, and committee member for the Charlotte and Gwenyth Gray Foundation to cure Batten Disease. She is also a contributing columnist for Entrepreneur, Search Engine Journal and several other industry publications.  Connect With Cynthia: Website | @CynthiaLIVE | Pinterest | Instagram | LinkedIn   Subscribe to the Outlier Newsletter: Click Here If you enjoy Outlier On Air, please Subscribe & Review on iTunes or Stitcher Brought to you by: OUTLIER ENTREPRENEURS Request Invite If you enjoy Outlier On Air, please Subscribe & Review on iTunes or Stitcher

David Pearce created the Coordination of Rare Diseases at Sanford or CoRDS registry as a national resource that could help accelerate research into rare diseases. We spoke to Pearce, president of Sanford Research, director of Sanford Children’s Health Research Center, and the Global Genes 2012 Champions of Hope honoree for Research & Science, about his own research into the neurodegenerative disorder Batten Disease, how that led to the development of CoRDS, and the role patient registries can play in accelerating rare disease research and the development of new therapies.