Podcasts about Dystrophy

The comedian, filmmaker, and humanitarian appeared in at least 117 film and TV productions in a career that spanned over 50 years. 

Send us your feedbackIn this episode of the My Macular and Me podcast we are joined by Professor Jacqueline van der Spuy from the UCL Institute of Ophthalmology. She discusses the development of treatments for Doyne honeycomb retinal dystrophy, an inherited juvenile macular dystrophy affecting sight from early adulthood.The Macular Society has been supporting people with macular conditions for over 30 years. The right information and support can help people overcome their worries and retain their independence. We provide free information and support to those with macular disease, along with their family and friends. If you or a family member need advice or support, please make sure to reach out. No one has to face macular disease alone. Please call us on 0300 3030 111.

Jacqueline's symptoms of FSHD muscular dystrophy began at 16 years old. She shares with us today how she manages chronic pain and what that looked like throughout her pregnancy and birth journeys. Jacqueline is also a sexual violence trauma survivor and went through three pregnancy losses. Through her nonprofit organization and as a birth doula, she is a strong advocate for trauma-informed care for all women. Jacqueline shares inspiration and advice throughout the episode for women who also have a history of trauma as well as those who are trying to navigate birth with a neuromuscular condition. Her proactive approach to caring for her body and heart allowed Jacqueline to have a beautiful, empowering, and healing VBAC, especially after enduring so much.  Anesthetic Management for Dystrophy ArticleNeeded WebsiteHow to VBAC: The Ultimate Prep Course for ParentsFull Transcript under Episode Details Meagan: Hello, Women of Strength. Today's episode is a VBAC episode, but it has an extra topic that is a first for the entire podcast life. In 320-something episodes, we have never talked about this specific topic. The other day on social media, I had a couple of spots so I reached out and I am so grateful for Jacqueline. Are you in Canada? Jacqueline: Yes. Meagan: Yes. She's from Canada and she reached out and was like, “Hey, this is something about my story.” And I was like, “Yes, let's do that because this would be amazing.” One of the things that we are going to be talking about today is FSHD muscular dystrophy. Jacqueline: Dystrophy. Dystrophy. Meagan: Okay, yes. We are going to be talking about that a little bit more and the challenges that you have had to go through with all of this. If you wouldn't mind before we get to the review, will you tell us a little bit more about FSHD and one, what is it? Two, what are the things that we are told because you have it and how you had to birth if you were told?Jacqueline: Yeah, absolutely. FSHD is a form of muscular dystrophy. It's quite rare and it essentially affects the muscles in my shoulders and in my facial muscles as well. For everyone with FSHD, your symptoms present quite differently. Of all of the types of muscular dystrophy, it is one of the more common forms, but in the big scheme of conditions that you can live with, it definitely is still considered to be rare. I was diagnosed in 2018 officially though I had symptoms starting from the age of 16 and I gave birth to my first child when I was 21 years old. I didn't have too many symptoms at that time. Going into my twenties, I started to have more atrophy in my shoulders, my lower back, and sometimes in my feet. My second and third processes were a little bit different, but overall, in terms of pregnancy and birth, my specialist always shared that you're able to carry a baby and you're able to give birth. The atrophy that we experience doesn't necessarily affect that process thankfully, but I've always been someone who is very proactive in terms of minimizing my pain and trying to do different types of therapies to minimize the chronic pain that I live with so I'm very focused on that during pregnancy especially. In my most recent birth which happened 5 weeks ago now, I really focused on making sure that my body was very strong and at its optimal comfort level that I possibly could be while pregnant in order to achieve a successful VBAC. Meagan: Oh my gosh, thank you for sharing and we're definitely going to go in through your journies and I'm sure it's going to come up. We're going to learn more about how you did that, how you made sure your body was at its most comfortable spot that it could be while growing a baby and how it's impacted your life. Thank you for sharing. I do want to share a Review of the Week before we get too far into today's episodes. This is by Rachel Thornton and it says, “Thanks for giving me the confidence to have a VBAC.” It says, “I am so glad I found this amazing podcast when I was newly pregnant with baby number two. After a long and traumatic first birth experience that ended in a C-section, I cautiously hoped that I could have a VBAC. Using this information that I learned from hearing other people's stories on The VBAC Link, I felt confident and prepared for the birth of my son. On October 9, 2020, I had a beautiful, redemptive VBAC and welcomed our boy into the world. Thank you so much for helping me achieve this dream.” Girl, Rachel, you are amazing. Congratulations and thank you for sharing the story of your dream. I am so happy for you that you got your VBAC and as always, if you have opinions about The VBAC Link, please share them. Rate us. Give us a review and let us know what you think and maybe how we're changing your dream as well. Meagan: Okay, Jacqueline. Okay, so you have three babies. Jacqueline: Yes. Meagan: One is 5 weeks old. 5 weeks? Jacqueline: Yes. Meagan: Itty bitty, bitty. Wow. Thank you so much for taking the time 5 weeks postpartum and you could be taking a nap right now and you are here with us sharing your story. I'm going to turn the time over to you and let you share away. Jacqueline: Great. As mentioned, I have three kids but this was actually my 8th pregnancy so I am quite well versed on pregnancy and birth and I am actually a doula myself. I went through the training process after I experienced three consecutive losses when I was trying to get pregnant with my husband. This was back in 2020. With that, I sort of had a new sense of knowledge coming into pregnancy and birth. That was following the birth of my daughter. I had her when I was 21 years old and that process was very different than my other two pregnancies and birth stories. Unfortunately, when I was pregnant with her I was in an abusive relationship. It's a very unique story I guess you can say. I was living abroad at the time so most of my pregnancy care actually took place in Kenya where I was doing work with my nonprofit organization and then I moved back to Canada when I was 6 months pregnant and lived with my family at the time. They really supported me and just came to a level of peace before giving birth and mentally preparing for becoming a parent at a very young age and as a single mom. But going into that birth process, I really did no preparation at all. I found myself during this pregnancy and as I was preparing for the birth of my second son which happened just 5 weeks ago, I really found myself reflecting on my pregnancy and birth experience with my daughter. With her birth, I had no foundational knowledge aside from what I had seen in movies really and because of that, at 39 weeks, I ended up getting induced. It was a very long birth process. I was already in a very traumatized state because of what I was going through at the time and I had my mother and my grandmother there with me when I gave birth but my mother had also gone through inductions because my brother and I stayed locked in there until well over 42 weeks actually for both of my mom's pregnancies. She had never experienced anything different. I didn't think twice about experiencing an induction and to summarize that birth story really, I ended up giving birth vaginally after over 24 hours of laboring. I had a failed epidural which I got just before she was born about an hour and a half prior to her being born and I had no movement throughout the entire process. I quite literally just moved from one side of the bed to the other. I was watching Ugly Betty throughout my entire labor and delivery. That I do remember. It was my comfort show at the time. I largely just wanted the process to be over so that I could be with my baby and there were a lot of things that happened throughout that labor process that I didn't even reflect on as unnecessary interventions again until this pregnancy. Jacqueline: 7 years later, when my husband and I decided that we wanted to start the process of expanding our family, we were really conscious about making sure that I didn't have that same experience. I really opened up to him about how I was just in a state of survival with my daughter's birth and how I didn't want to go through that again. Again, at this time, I also was a doula as well. After we had experienced our losses, it was really important to me to just expand my knowledge and I felt really called to get that training because of the insensitivity that I experienced when I was navigating loss. Coming into the process of now having a rainbow baby and wanting for it to be a really redeeming birth as well, I tried to make sure again that my body was very strong coming into labor. One thing that I think stands out as a person living with a disability with FSHD muscular dystrophy is that often with conditions that are rare, you have providers who when they hear that you have a rare condition, they immediately want to turn you away. Meagan: Yeah, they get scared. Jacqueline: Exactly. I reached out to the midwives' team in my community. At the time we were living in Northern Ontario in Canada which is more rural and remote so we only had one midwife team in our area. When I put in my form stating that I had a form of muscular dystrophy, I was immediately turned away and that was a little bit deterring so I reached out to a friend of mine who was a midwifery student. She encouraged me to just call the practice and explain what my condition actually was and how it did not affect my ability to give birth at all. I was not high risk. In doing that, they changed my status in their system and put me on the waitlist. Within our community, you essentially have to call the midwives at 5-6 weeks pregnant if you want to get in. It's very unfortunate because they provide such incredible trauma-informed care and support, but it's something that is very heavily regulated and they are only allowed a certain amount of clients each month.Because of that, a lot of women who are giving birth don't get to access those services. Fortunately, I received a call about 2 months into my pregnancy that I was now able to be accepted as a patient. I was paired up with an incredible team. I'll give a shoutout to them, Meredith and Sara from Sudbury Community Midwives. They really helped change the way I viewed being pregnant. During my first pregnancy, I absolutely hated the process. I am the first to admit that. I was going through so many hardships on a personal level and I just really felt that I didn't have any sense of control or agency over my body at that time. That really translated into my birth experience as well. They really helped me to navigate through that and really connect with my body and feel empowered through the process. I really loved as well just in general with midwifery care that they allowed me to have the space to ask questions. I never felt rushed and I never felt that because I had a disability that I had to have a certain type of birth where I wasn't in control. I think sometimes for folks who have disabilities, that's often what you are made to feel like has to be the process. Obviously, everyone has a different background, but often that isn't the case. Often, you can still decide what outcomes you will encounter both in your pregnancy and in your birthing experience. Jacqueline: With that, I decided that I wanted to have a home birth. We did everything humanly possible to prepare for that process. I was going to a chiropractor quite regularly. I was seeing a naturopathic doctor. I had gone to my specialist to make sure that my body was ready for birthing and everyone was getting me into the best possible shape I could be in to give birth. The midwives' team were very aligned with what we wanted for our home birth as well.I really wanted my daughter to be a part of that process and again, being my birth following three consecutive losses and the first birth after a baby after having my daughter and not really getting to fully even embrace that first year of her life largely because I was navigating through so much trauma myself after leaving my abuser, I really just thought that would be a meaningful experience for us as well. But my son had other plans. At 39 weeks, I remember it so vividly. I was in the bath and I quite literally watched him flip from head down which he had been for weeks to transverse breech. I thankfully had a midwife appointment the next day and said to them, “I'm fairly certain that my son has turned.”They said, “There is no way. Statistically, this is so unlikely. You are so far along in your pregnancy. Don't stress. I'm sure you are mistaken.” Of course, very quickly, we learned that he had flipped. I think that too really speaks to as someone with a disability you are so in tune with your body. You feel every little change. You are so used to having discomfort and pain on a daily basis. I knew the minute that he had flipped so I advocated for myself in those moments and said, “Can we have an ultrasound to confirm it?” We did. Even in that process, I really made sure that I stayed a part of my birth. I had a strong feeling that I would probably be having a C-section. It wasn't what I planned for, but going into everything, I think my doula training did help in this regard. I was ready for whatever may happen. I had sort of a plan A and a plan B. Plan A obviously was that I would be able to have my home birth if by some miracle he flipped back, but plan B was that I would be involved in the decision-making process for a C-section. I spoke with my midwife team and we found one OB/GYN in my community who was willing to try and do an inversion, so to try and manually move him back into the head-down position. We did a consult at our hospital. This OB/GYN and I actually had a history. He had supported me through two of my losses and was actually part of helping us successfully get pregnant with my son. It was actually very full circle that he would then be a part of my birth. I felt comfortable in his care as well. He knew my history. Part of my story as well is that I am a survivor of sexual violence. That's actually what I do professionally with my work. He knew that a lot of elements of birth are very triggering for me as well so he really wanted to ensure that we would be as minimally invasive and as trauma-informed as possible. Unfortunately, our ultrasound showed that I had a limited amount of fluid. He was still willing to try and do the inversion, but he said, “To be totally transparent with you Jacqueline, this is going to be incredibly traumatic for you. I refuse to do it unless you get an epidural because it's going to hurt and you've gone through so many losses. This is the baby that you've been waiting for. Make an informed decision of what you think would be best for you, but I just want you to know everything going in.” I really appreciated that as well that he spoke to me from a very personable standpoint knowing my background and our history and ultimately, we decided that a C-section would be what was best for us. Jacqueline: Everything went smoothly with the C-section, thank goodness and I welcomed my son in a very powerful way. I still think because I was very involved in the decision-making process, I felt very at peace with the fact that I had to have a C-section. My midwives were still in the OR with us when we were going through that process and they were still with us for the continuation of care and I also had the connection with my OB. He made sure that he really congratulated us in welcoming our son and highlighted that it was really special that he was here now after he had seen our journey. It felt very good, but the recovery was just so incredibly difficult as someone who lives with a neuromuscular condition. I think no one at the hospital was really aware of the fact that I needed a different timeline in terms of when to get up and get moving in comparison to other moms who don't have the condition that I live with. Everything was very rushed. I literally left the hospital 24 hours after having a C-section which is the standard of care where we live. Meagan: 24 hours? I didn't know that. Jacqueline: 24 hours. It's appalling in my opinion. Meagan: Very quickly. Jacqueline: It's something that I don't think should be encouraged, but I returned home and really just wasn't prepared for what was to come. I didn't feel like I had even a full range of mobility for probably 6-8 months. It was just traumatic in that sense that I hear so many people around me sharing that after a few months, they felt that sense of normalcy again and reconnection with their body to some extent. For me, my timeline was just very different. For anyone who is going through the process of giving birth and lives with a condition like a neuromuscular condition or something similar, I think it's important to have in the back of your mind that your timeline will be different and that is okay. If it is possible for you to give birth vaginally or to try and go for a VBAC or try and avoid a C-section if not medically necessary, do everything in your power to try and make that possible because often even the care instructions that I was provided with in postpartum were not aligned with the realities of what I face as a person with a neuromuscular condition.Because it's so underresearched, my OB/GYN for example did not know what kind of recommendations to give me in terms of what to expect and how to prepare myself so I think that's just something to keep in the back of your mind if you are trying to make informed decisions about what to expect if you are someone who lives with a neuromuscular disease. Jacqueline: That being said, when my son was 2, or I guess we actually got pregnant 18 months postpartum so exactly at the time you are recommended to start trying again. This was not something that we necessarily planned for and we did not think it was possible to have another child without planning so we just took that as an unexpected blessing and my pregnancy with my second son went very smoothly. I did notice though with my pregnancy with my first son, I didn't seek chiropractic care and other services like massage as much as I probably should have. I also wasn't as active prior to giving birth as I probably should have been in order to help myself with mobility and also with my postpartum healing. So I was very proactive during this pregnancy. We had just moved from northern Ontario to southern Ontario for my husband's work so we were now about a 5 ½-hour drive from the majority of our family and support system. One of the first things that I did when we moved to the community was find a sort of new care team to help with FSHD– just the regular symptoms, not even pregnancy-connected. I found The Wellness Hub which is located in Hamilton, Ontario for anyone who is in the area. They are a practice that primarily specializes in women's health and so I just felt very at home immediately when I entered their clinic and I found an amazing chiropractor there who supported me from the very beginning of my pregnancy and then when I reached 20 weeks, I decided that I wanted to start going more frequently so I was going for weekly chiro visits. I made sure that I also did massage at least once a month up until 30 weeks and then I was going bi-weekly from 30 weeks onward. I think that's also very important for anyone who is living with a neuromuscular condition or something similar. Prioritize your care and don't put yourself in the back corner preparing for your baby to arrive. Really make sure that you focus on your care and healing as well. So to fast forward a little bit, everything went well with my midwife care team in this community as well and as we neared our 35-week mark, I said, “Hey, we should probably start talking about labor and delivery.” so they were actually quite slow to start having that conversation. I don't even think it came up until 36 weeks for us because I had always gone past 39 weeks. They thought I would have time. They didn't think I would go into labor early. I didn't, but I still thought we should be having those conversations. My husband is a pilot so he's actually gone every 2 weeks and so because I didn't have family close by and because I knew I may potentially not have my husband at home either, I hired a doula team. I also did this during my second pregnancy, well my second birth as well, but unfortunately at that time, it was COVID so we couldn't have doulas in the hospital. But she did support me mostly in preparing my husband for what to expect, but she had a background in kinesiology as well so she also helped prepare my body physically for the birthing process. She had studied with a training called the Body Ready Method. I really wanted to find a doula who had the same training background because I found it very beneficial. I did some research and found a doula team, Leanne and Roseanne, who are in the Hamilton area with Hamilton family doulas and they worked with me from around the 35-week mark as well to get ready for my birth. Largely because I had the knowledge background as a doula myself, they didn't have to go through too much about what to expect in your birth. We largely just discussed the different types of movement I would want to be doing in early labor and also really helped me to prepare for what I had hoped going in would be an unmedicated birth but also talked about the different options that we may have with a really strong focus on having a VBAC. That was my number-one priority even in selecting gmy provider. I really made sure that I called around and fortunately, in my area, every midwife practice I spoke to is very aligned with me having a VBAC. Meagan: Awesome. Jacqueline: Ultimately, the providers I chose, my team, Sara and Emily, were really aligned with making sure that I was very comfortable, that I wouldn't be moved around too much after giving birth. I really emphasized as well that I wanted to try and avoid giving birth on my back because I knew that any additional pressure on my hips and lower back would probably lead to a longer postpartum healing for myself just because of my condition. Everyone seemed very aligned. As we neared closer to 39 weeks, that's when we started to have discussions about induction and things of that nature. One thing that is standard practice where I live is that you would have a consult with an OB and an anesthesiologist from 20 weeks which I thought was crazy. At the time, I said, “I don't want to have an epidural. I don't want to have an OB involved in my birth process at all. I don't want a C-section. I'm not even meeting with these folks because I want to manifest the birth that I want.” So they were a little caught off guard by this. They did try and schedule me again. I believe it was around 30 weeks and I just declined again so being informed about what my options actually were in terms of what I can accept or say, “No thank you” to was very important and for anyone who is going through the process as someone who is living with a disability, I think you really need to make sure you do educate yourself on what you can say no to because you have that extra layer that people can always fall back on to say that you are kind of treading the high-risk zone. You can push back on that politely and say that you are not high-risk. That's why you are here and that you prefer to just stay with your current providers and your current care plan. Meagan: I was going to say too that Julie mentioned this on a previous episode that I loved and is sticking with me too. You can say, “How will my care change if I do this? If I meet with these people or if I have these extra visits?” You can say, “How is this going to change?” If they say, “Oh, it's just to let you know who they are,” then you're like, “I don't care.” Jacqueline: That's essentially what I did in person was saying, “Why do I need to meet with an OB?” They said, “It's standard practice here.” I said, “I really would prefer not to. I am working on a huge project right now with my professional career. I have two other kids. I just don't have the time or capacity to be having meetings with someone who probably won't even be on shift when I give birth anyway. So respectfully, no thank you.” At the 39-week mark, we discussed what would be our next steps if I did go over 41 weeks which in my province is sort of your cutoff time from when you can give birth without induction for a VBAC. So within my community, VBAC anywhere other than a hospital was just not even discussed. Because of my condition, I did agree that I would do a hospital birth. Now, if I ever had another child, I would probably actually want to try for a home birth. But yeah, I went into the process trying to keep an open mind, trying not to be too judgmental going into a hospital environment. I spoke about this a lot with my doula team. I got to hear a little bit about their experiences within this hospital because they had supported clients there to give birth. I had a friend who is a nurse there in the labor and delivery department as well. Ultimately, everyone gave me very positive reviews which put me at ease. I think it's important as well to do a little bit of research about the care team that you select and the hospital that they have privileges in. If the hospital where they have privileges isn't necessarily VBAC friendly, then maybe it's a good idea to get a different care team. That may be something that is very Canadian-specific, but our midwife teams only have privileges in certain hospitals, so you have to make sure that you do that extra little step of research. I also spoke to a lot of moms in a community called Mamaraderie here in Hamilton, Ontario. I hope I'm pronouncing that correctly. A lot of the moms shared very positive VBAC stories. I was actually referred to the podcast several times by moms who I spoke to which was great to hear as well. Yeah, basically from that time forward, the talk was really just how do we ensure that I have a successful VBAC with my midwives? They didn't really speak to me too much from their end about induction. They recommended that I have a consult with an OB at the hospital. I went in and I spoke with a resident. I believe she was a fourth-year resident. To be quite frank, the experience was terrible. She essentially told me that if I needed to be induced, my care with the midwives would end until my baby was born and that they would not be there with me when I was laboring because their care was redundant which I found to be incredibly insulting. Meagan: Yeah. Jacqueline: I was just floored that she would state that. She did emphasize that the decision if I wanted to be induced or I wanted to wait out labor was my decision. She spoke to me about C-section even though I expressed that I did not want it. She said, “Let me just cover my bases and tell you what your options are.” I respect that. It's probably what she was trained to to but it definitely put my guards up because I explained in detail why as a person with FSHD, it is not in my best interest to have a C-section, then when she provided all of my different options, and I was also big on hearing the statistical options if I waited to go into labor naturally or if I was induced in a more controlled environment type of situation what the best outcome would be, I had heard all of these statistics through the podcast but I didn't listen to one specific episode talking about induction yet so after I had a major breakdown after leaving the hospital, I spoke to another friend of mine who is also a doula and she recommended listening to the episodes specifically on induction. That helped a lot more than speaking with the resident to bring some clarity in terms of what the best outcomes will likely be if I were to wait versus if I were to go down the induction route again. I already knew from my birth with my daughter that induction using oxytocin doesn't even really necessarily work very quickly for my body. I wasn't really convinced that it would speed up the process. If anything, I remembered it being a 10 pain from the beginning with very minimal dilation and an incredibly long process. I knew that in my area as well, if I'm birthing in the hospital environment and I'm induced, I need to be monitored 24/7 and that meant that I wouldn't be able to move around. It meant my plan to have early labor in the bath would no longer be an option. It also meant that if I went over the 24-hour mark, I wouldn't even have a choice. They would just tell me that I would need to have a C-section per their policies. I said, “Okay. I'm going to give myself more time.” From 38 weeks, I had been going to chiro again weekly. I'd been doing massage weekly. I started doing acupuncture once a week and I also started doing things like the Miles Circuit and things of that nature to try and induce labor. One thing around the 39-week that started was that I was having contractions that would stop after a certain number of hours. Even if I did movement, I would take baths trying to check if they were Braxton Hicks. I'm still not entirely sure what they were because they felt a little bit stronger than when I had Braxton Hicks but they would just stop. Meagan: Like prodromal labor. Jacqueline: Yes, starting from pretty well the 39-week mark. Then there would be days at a time where I would have nothing. In week 40 I knew, Okay. my deadline is next week. I need to amp this up a bit. My entire care team at The Wellness Hub were all fixated like I was on my having a VBAC. Now at this point, when I would come into my appointments, everyone would be waiting at the door because that would mean I'm going into labor. I felt like I had a very supportive team around me and we started to do acupuncture twice a week during my 40th week. I also was going to chiro twice a week and doing massage as well. I think even in my 40th week, I did massage twice in that week. I took one of their cancellations. Meagan: Yay, good for you. Jacqueline: We did everything humanly possible to try and induce labor naturally. Because I had never experienced a sensation of natural labor, I didn't know what to expect in terms of the sensations. My doulas didn't necessarily describe it or know how to describe it either in terms of what was not labor and what was. We were all just waiting around. Every time I would have contractions start and stop, they would be like, “Okay, maybe it's going to happen but it's probably not because it's been many days of it starting and stopping.” Jacqueline: On March 7th around 1:00 AM, I started to feeling contractions again but much like my doulas, I said, “Oh, I'll sleep through it.” They started to intensity and get more close together, but my first son was a terrible sleeper and so he used to wake up about every half hour to an hour so from a sleep perspective, I'm very used to waking up often. So when my contractions started getting closer together, I didn't really think too much of it. My son came into my room around 2:30 that morning and I realized, “Oh my goodness. My contractions are 5-7 minutes apart at this point for the last hour.” He came into bed with my husband and I tried to stay in bed, but they were just too strong so I went into the bath. I realized I had lost my mucus plug.I got in. I was trying to remain comfortable in the bath. This time, they were just intensifying so I had a feeling that this was early labor. Meagan: Yep. Jacqueline: I remember my daughter came into the room. Initially, I asked her to be my mini doula before I called in my doulas and she saw me in pain and I could tell by the look on her face that she was not going to be my mini doula because she was terrified. She said, “Are you okay?” She stayed with me for some time and eventually, she went back to bed. I stayed in the bath for about an hour just breathing through contractions. I think it was 45 minutes in when I started to time them using an app just to know if I should contact my doulas and say, “Things are starting to happen.” The week prior, I did my first cervical check. I was less than 1 centimeter dilated. I knew my body. I knew that I don't dilate easily. I remembered that from my first birth so I just mentally prepared myself for what could be a long labor. My contractions around 5:00 AM were about 5 minutes apart. I live about a half hour away from my hospital so I knew that I should probably contact my midwives to just let them know that contractions were 5 minutes apart. When I gave them a call, they said to come in around 6:30-7:00 AM unless things really intensified then come in immediately. I woke up my husband. My dad had actually driven down from northern Ontario to come and stay at our home just because I had a feeling. I gave birth on a Friday and on the Wednesday I told him that he should probably come. I just knew that I probably wouldn't even last until the weekend when he anticipated to come. So he came and took my son. Yeah, things just got more and more intense. By the time we got to the hospital, I was breathing through contractions about every 4 minutes. Sometimes they were a little bit closer together so we went up to labor and delivery. We saw our midwife and she told me that I was still 1 centimeter dilated and that it would probably be a long process. She recommended that we come back home which we did. I didn't feel too disappointed at that time because she recommended I return home because she knew that I wanted to have more ability for movement. She knew that would help with my condition and she also knew that I wanted to be able to be in the water. I really appreciated that she had that recommendation. I let my doulas know that that was what was going on. Initially, when we went in, we called one of our doulas to give them a heads-up that we were headed into the hospital. We ended up staying at home for about 2-3 hours where I really tried to move around. I would recommend to anyone who has this type of condition as well that movement really is your best friend.Even though it feels like it won't be comfortable, in your postpartum recovery, you will be grateful that you moved around and didn't stay stagnant in one position. We were only there for about 2.5 hours. My mom had driven down that morning as well and she just watched me trying to get some rest in bed. My contractions were about 2-3 minutes apart at that point. I said, “I don't feel like he's descending so I'm not worried about that,” but she said, “Your contractions are so close together. I'm worried you are going to give birth in this bed at any minute.” I knew that we were not there because I could feel that we weren't there. They were very close together and they were intensifying so we did go back in. From there, things went pretty quickly. Well, it felt pretty quickly but it was not pretty quickly. We got in and I had a replacement midwife so she wasn't someone from my initial care team. My midwife actually was feeling unwell between when I saw her in the morning and when I got into the hospital. But oddly enough, this midwife, Elizabeth, reminded me so much of my mother's best friend. She looked like her physically. She sounded like her so I felt like it was someone close to me even though I had never met her before. She surprisingly recommended the internal monitoring to me several times which I declined and I will say for anyone who has a midwife, often we don't anticipate that anything will be recommended by a midwife that maybe we are not comfortable with, but if that happens and even if you have the best relationship with your provider and you fully trust them, you are still allowed to decline an intervention if it's not medically necessary. Meagan: Yes. Jacqueline: So I did do that very respectfully as well. I was monitored 24/7 throughout my process of being in the hospital. When I initially came in, my son's heart rate was not accelerating at the rate that my midwife thought we should be seeing so with that, she admitted us. Initially, she had just started out with the monitoring and was going to send us back home because I was only 2 centimeters dilated but she decided to keep us there. The OBs that she consulted with when she saw the heart rate acceleration was not where they typically like it to be, they weren't concerned which also put me at ease because they obviously were not providers who were trying to rush me into a C-section. She had explained to them what my background was and how I really wanted to avoid it and they already seemed to be aligned with that. That brought me a lot of ease too. We went through that labor process of again lots of movement. My doula came in. She had me doing as much as she could to help me ease my pain. Around 9:00 PM, I decided that I wanted to get an epidural. Largely to be honest and transparent, it was because I found that cervical checks which are often aligned with a VBAC in our province anyway. You have to have that monitoring. I found it to be very triggering and I felt my body tensing up and becoming less and less open and comfortable every time I had to have one done. I did try and delay them as much as I possibly could, but I also understood why they needed to happen to see how I was progressing because I had been in labor for several days at that point. I had essentially started having the prodromal labor 3 days prior. I knew that my baby was going through that. I was also a little bit more accepting to going outside of what I originally thought my birth plan would be. I was exhausted at this point too so I wanted to try and have a little bit of rest. When the anesthesiologist came in– and this is where I would actually recommend for any folks who have a neuromuscular disease or anyone with a similar condition to do that initial anesthesiologist visit which I initially declined. I regret doing that now because when I did need to get an epidural done, the anesthesiologist had done a lot of research so it took her about an hour just to come and give me my epidural. She explained it was because she was actually researching my condition to make sure that she wouldn't do it incorrectly and make sure that I would actually have a successful epidural. Meagan: If you had done the consult, would someone have already done the research and put that in the notes? Jacqueline: Yes. Yes. She also told me something that I had never heard before as well that within labor and delivery specifically, there is one drug that can be sometimes given for pain management that a person with muscular dystrophy is not supposed to have so she said she wrote in my chart that I was allergic to that type of medication just to ensure I'm never given it. She said that she doesn't anticipate that it would affect someone with my type of muscular dystrophy because my lungs aren't necessarily affected but for some folks who have other forms of muscular dystrophy, it can be fatal. She said just for the future if I ever needed to have any type of sedation that I should try and do a consult earlier. That is a good recommendation that I would have for any folks even if you're thinking you're not going to have an epidural in your birth plan, I would say to still go for that specific appointment just so they can get your health history and have it in your chart, in your notes, get to know you, and make sure that they are advocating for you when you are in the hospital. Part of my recommendation as well would just be to put your pride aside sometimes. I myself thought that I was protecting myself in not going to those appointments and doing the best form of advocacy that I could but I was actually hindering myself to an extent. Meagan: Yeah, but at the same time, they didn't say anything like that. “This is the reason why we would like to meet with you.” Jacqueline: Yeah. I did explain that to my midwife team afterward as well and said, “Please share widely throughout the community because I think for anyone with a neuromuscular condition, we can give birth successfully. We are not high risk, but this element should be noted and you should explain that in this way so that even if a mom is not wanting to have an epidural, in the case of an emergency, she is not given a drug that can be fatal for her.” Meagan: Right, yeah. Jacqueline: So it was that piece of advocacy. After I had the epidural, we had the OB come in for a consultation because I had been laboring near the 24-hour mark at this point. We started talking about the potential of having oxytocin. I wasn't explicitly against any forms of induction because again, I had been laboring for 3 days off and on but I just wanted to try and hold off as long as possible. It was an OB resident who I spoke to. Her name was Dr. Tam. She's fantastic. She just explained why this process would be beneficial to start now. She said she would need to do a cervical check just to see where I was at from my previous check about an hour prior. They said they typically like to see dilation by 1 centimeter each hour when you are a VBAC patient who's admitted. So at one hour prior, I was 4 centimeters and when she checked me, this would be close to 10:30ish, I was a 6. There was progress and I said if I've gone more than 1 centimeter within the last hour, do I even need the oxytocin now? She spoke with her attending who said, “They could hold off,” but if I wanted to prevent myself from having a C-section, it might be a good idea just because I had been in labor for several days. At that point, I understood and we had also seen some heart dips a few times which were easily resolved through movement, but they said, “We really want to support you in not having an emergency C-section and have the VBAC that you're wanting. You decide, but we'll have the conversation again in an hour if you don't want it.” I decided that I was okay with it just to see if things would progress with having one dose of oxytocin. I did express that if after one hour that we didn't see any change that I wanted to be off the drip essentially and just let things progress naturally. They were comfortable with that. We tried it and at that time as well, my doula put me into a certain positioning which I felt to be very beneficial for my progression. That was the flying cowgirl position. Meagan: Yeah, with the peanut ball. Jacqueline: Yes. One of the nurses had recommended a different position, but Leanne stepped in and said, “I think we should put her in this position.” At the time, my midwife was still there. She said, “Yep. I agree. Let's do it.” They got me into that position. I was in that position for about 15 minutes and then I felt an insane urge that I needed to poop. This is kind of a funny story that moms will relate to and probably laugh at but I just kept saying to the nurses and at this time, my midwife said, “It's going to take you a few hours. I'm going to take a rest and come back.” I said bye to her but then I was talking to the nurse and said, “Look. I haven't pooped in a few days. I'm realizing now I need to do that. I have an epidural so I can't go to the bathroom. What do I do?” The nurse just told me, “You don't actually have to go. It'll happen probably when you're pushing. It happens to everyone. Don't worry about it.” I was trying to articulate that no, I have to do it. Meagan: I actually have to. Jacqueline: I'm going to do it on this bed if you don't get something to put under me. She wasn't listening to me and I was just going back and forth with her. My husband later told me that he thought I was loopy from whatever drugs they gave me, but long story short, I cleared space for the baby. My doula supported me in cleaning myself up and the nurses cleared everything away. They were actually surprised because they did not think that I actually had to go but I said, “I know my body even though I don't have 100% of my feeling. I know that I had to do this.” Then from that point, I kid you not. It was maybe 15 minutes later. I was told that I was 10 centimeters. They had gotten me back ito the flying cowgirl position after I cleared out everything and I just felt like I needed to go again. I said, “I feel a lot of pressure.” At this point, actually my epidural had stopped working. I started out feeling some contractions on the left side of my leg which spread and I could feel everything pretty well. I wasn't mad at it because I wanted to be able to feel my contractions when I was pushing anyway so it was kind of the best of both worlds. I had gotten about an hour and a half to rest and let my body regain some energy then I could feel everything again. It ended up being what I wanted. I was telling my doula, feeling this pressure again, feeling like I had to poop, and the nurses got this look on her face like, “Is she crazy and does she have to go again or is this the real deal?”One of them looked and I declined a cervical check again. I said, “I'm sure if it's happening, you'll see a head.” They said, “Okay, we need Dr. Tam to come back in.” She came and she said, “I need to do a cervical check again.” I said, “No. I don't want one.” I was feeling contractions fully at this point. I said, “I'm feeling too much pain. I don't want a cervical exam. I'm not doing it.” She stood there and waited for about 15 minutes and she was like, “I really need to check you because I can see that things are progressing and I think you're in transition.” I just huffed, “Okay, fine.” I let her do a cervical check and she said, “You're 10 centimeters and it's time to start pushing.” I said, “I'm not ready to start pushing.” I did not feel like he was in the position to start pushing yet. They all just sat there. They called my midwife back in. She fortunately was just at her car about to leave. She ran back inside. By the time I felt ready, she was on one side and my doula was on the other side of me. They asked me what position I wanted to be in. I tried with side-lying. My OB was also very supportive of that and I think if you're a person with a disability advocating for the position that you're most comfortable with is very important. The only piece of advice I would have for anyone who planned for an unmedicated birth is to have your plan B if your plan does change in the moment and you decide you want an epidural. That was the one thing and as a doula, I should have known better, that I did not do was prepare other positions that would be aligned with an epidural. I really only in the moment could think of side-lying. When it wasn't as effective as they wanted to see after a few pushes, they recommended, “Okay, let's try on your back.” Because I was just in the zone, I agreed. I had my doula on one side and my midwife on the other side then Dr. Tam was in front of me and my husband came and joined me on the side. I really just focused on my breathing. I initially started out holding his hand. At some point, I let go and hung on to the sides of the bed which gave me some momentum. I found it gave me also that sense of control as well which I found very beneficial as a survivor and also as someone who wanted to feel in control of their birth. I didn't really listen to what anyone was saying in terms of, “Okay, keep pushing. Push, push, push,” or timing things out. I just pushed when I felt like I had the sensation to push and stopped when I felt like I need to take a break. My midwife was telling me when I needed to soften my legs and my doula was on the other side. She was going through deep breathing and I was following her in those deep breaths. I had my eyes closed the entire time and Dr. Tam and her attending came in at some point and was another voice I had never heard before but my eyes were shut. I was just focused. They were all being very encouraging and they shared with me when his head came out. He was much bigger than anyone had told me. I did a scan at 37 weeks and was told that he would be around 6 pounds. He ended up being 8 pounds, 11 ounces so they were a little off, but everyone in those final moments helped really guide me through that process in a very empowering environment and we had very minimal interventions to get him out. He came out all on his own and it was just a beautiful experience getting through that last chapter of my birth. Yeah. We had him placed right on my chest and it was just a very, very empowering, beautiful VBAC which was exactly what I was hoping for. Meagan: Aw, thank you so much for sharing that. Huge congrats. Jacqueline: Thank you. Meagan: Oh my gosh. I'm so glad that you were able to advocate for yourself through that journey too. Through every journey, you were advocating for yourself and even in some moments when you were like, “Okay, I'll do that.” I think that really speaks to sometimes how labor is. You don't have to ever say, “Okay” if you don't want to, but getting the education, feeling comfortable, and sometimes saying no a few times, then maybe later you are okay with it. It's really important to know that your opinion can change as long as it's your opinion that is changing. Jacqueline: Exactly. As long as you come into it from an informed perspective and not being afraid of asking your providers why something needs to be done is very key as well. For someone who is living with a disability, I'd say that when it comes to your birth, envision what you want for your postpartum experience as well and allow your birth to inform that next chapter. In my birth process, I wasn't necessarily thinking, Healthy mom, healthy baby throughout the entire experience. Of course, that's obviously what you want, but I was also thinking, How will this next step influence what my postpartum experience will be like? I think that's very important. Meagan: Yeah, very, very important. How will this answer or next step impact me moving forward? I love that you talked about postpartum specifically too because you have a prolonged postpartum. How was this postpartum? Did you bounce back a little faster? How did it differ? Jacqueline: It was so different. Even far better than I could have imagined for myself. Largely, I think that was due to the chiropractic care that I was receiving, going for the acupuncture, and going for the massage. My body was just so ready to not only give birth but also to support me in my postpartum journey. I did feel the effects of pushing on my back. My pelvis locked up very intensely after but I didn't freak out or panic. I just called my team at The Wellness Hub and explained that I would need a very gentle assessment and they had me in within the first few days of returning home so I would have more mobility and that really helped with my postpartum experience as well was having that mobility back. Build your care team that will not only support you in your pregnancy but also in your postpartum as well. That goes for everyone and not only moms with a disability. Meagan: Yes, absolutely. I really think that when it comes to birth, investing in ourselves and our birth and our postpartum experience can be hard naturally sometimes as moms. We put ourselves last because we are taking care of kids and partners and all of the things, but doing those things like chiropractic care, acupuncture, massage, pelvic floor therapy, and all of these things– hiring a doula, hiring a birth team– these are things that may have a cost but really, you deserve it. You deserve it. In the end, are you regretting anything that you did? Jacqueline: No. I was doing all of the things to try and induce my labor which afterward, I thought, I spent all of this money. It took so long. Then I stopped myself from those negative, intrusive thoughts and thought, Do you know what? You got your natural labor that you wanted. You had your VBAC. Your body has quite literally- it took me about one week to start feeling like myself. I had no tearing either. I just felt like all that preparation was not for nothing. I think if you invest in your knowledge and your physical being, it's never a waste. You can't take care of anyone unless you take care of yourself. Meagan: 100%. It always comes back to the airplane analogy for me where they are like, “Hey, you have to put your own oxygen mask on before you take care of other people if the plane is crashing. You really do. You have to invest in yourself and take care of yourself.” Really quickly, I just want everyone to know that I have a PDF that we‘re going to include in the show notes. It's called “Practical Notes for Anesthetic Management for a Dystrophy Patient”. I'm going to put that pdf here in the show notes. If you do have a muscular dystrophy– oh my gosh. Jacqueline: Dystrophy. Meagan: I feel like I'm saying it funny. Dystrophy condition whether it's more severe or less severe or whatever, it might be something that helps you and take that note. If you're going to need an epidural, make sure they know so you can talk over what's okay and what's not okay. I'll have that in the show notes for you. It's a PDF easily readable and it's got all of the stats and studies noted along the way. Okay, thank you so much again for sharing your story. I'm so grateful for you and for reaching out. Congrats again. Jacqueline: Thank you so much for having me. ClosingWould you like to be a guest on the podcast? Tell us about your experience at thevbaclink.com/share. For more information on all things VBAC including online and in-person VBAC classes, The VBAC Link blog, and Meagan's bio, head over to thevbaclink.com. Congratulations on starting your journey of learning and discovery with The VBAC Link.Support this podcast at — https://redcircle.com/the-vbac-link/donationsAdvertising Inquiries: https://redcircle.com/brands

Volunteer today and see God do the impossible at a Family Retreat in the U.S. or overseas! Sign up at joniradio.org – it will change your life! -------- Thank you for listening! Your support of Joni and Friends helps make this show possible.   Joni and Friends envisions a world where every person with a disability finds hope, dignity, and their place in the body of Christ. Become part of the global movement today at www.joniandfriends.org.   Find more encouragement on Instagram, TikTok, Facebook, and YouTube.

What is it like to have Macular Dystrophy? Allie was diagnosed 15 years ago and told Amelia about her sight loss journey, career and love of running.  Learn more about Allie's recruitment business on her website - About us | Hamilton Munro Learn about Allie's Pizza Oven business on LinkedIn - https://www.linkedin.com/company/cart-carriage-events/ Image shows RNIB Connect Radio logo. RNIB is written in bold black capital letters and underlined with a bold pink line. Underneath, 'Connect Radio' written in smaller black letters. 

In this episode of 'Art Heals All Wounds,' I share a personal story about my daughter's diagnosis with myotonic dystrophy. How I wished to meet someone like today's guest! Alexandra LeBoeuf, a young Canadian artist and myotonic dystrophy advocate, discusses how her artwork and personal experiences have helped create a support network and raise funds for research. Alex's story illustrates the impact of art in connecting individuals with shared experiences, particularly through her creation of a logo symbolizing strength for the myotonic dystrophy community. Together, Alex and I explore themes of resilience, creativity, and the importance of community support for those living with myotonic dystrophy or other rare diseases. 00:00 Introduction to Art Heals All Wounds00:46 A Personal Journey with Myotonic Dystrophy02:12 Spotlight on Alexandra LeBoeuf: Art, Advocacy, and Myotonic Dystrophy02:58 The Power of Community and Creativity04:34 Alex's Creative Journey and Impact11:20 Exploring the Therapeutic Role of Art and Music20:36 Building Connections Through Creativity30:03 The Importance of Support Groups and Advocacy31:30 Conclusion and ThanksDonate for a cure for Myotonic Dystrophy!Don't forget to go to my website and leave me YOUR story of belonging to feature on a future episode!Buy Me a Coffee!Follow Alex!Reach out to Alex on FacebookFollow Me!●      My Instagram ●      My LinkedIn●      Art Heals All Wounds Website●      Art Heals All Wounds Instagram●      Art Heals All Wounds Facebook 

Welcome to another enlightening episode of the "Care More Be Better" podcast, where we dive deep into the challenges faced by those with rare genetic diseases. This session features a compelling interview with Robert (Bob) Bellizzi, the founder and Executive Director of the Corneal Dystrophy Foundation. This episode was recorded in 2021, and is being re-published as a tribute to Bob since his passing quietly at home on April 8, 2024, 5 days before he would have turned 93 years old.About the GuestBob Bellizzi founded the Corneal Dystrophy Foundation in 1998, originally starting as a grassroots patient-to-patient support group called Fuchs' Friends. His organization has since grown to serve around 3,000 members across over 150 countries, providing a much-needed platform for patient support and information exchange on corneal dystrophies. Key Discussion PointsDiagnosis and Personal Journey: Bob shares his personal journey of being diagnosed with Fuchs' dystrophy, detailing the initial challenges and misconceptions around the condition due to the lack of accessible information at the time.Advancements in Treatment: The conversation highlights the significant advancements in treatment methods for corneal dystrophy, particularly the shift towards less invasive procedures that aim to reduce the risks of infection and rejection.Patient Advocacy and Support: Bob discusses the evolution of Fuchs' Friends and how the community's active engagement with specialists has propelled faster adoption and refinement of new surgical techniques globally.Future Outlook: Reflecting on the future, Bob expresses optimism about ongoing research and clinical trials aimed at further improving treatment outcomes and possibly avoiding surgery altogether through innovative approaches like gene therapy and specialized drug treatments.Eye sight can change at any age or stage of life. Annual checkups help identify potential sight or health issues, and should be considered, even if you don't have poor eyesight.Memorable MomentsThe Power of Community: One touching story shared involves the rapid response and collaborative effort to treat a five-day-old infant diagnosed with corneal dystrophy, showcasing the community's ability to mobilize and provide critical help in urgent situations.Challenges with Statistics and Awareness: Bob clarifies the prevalence of corneal dystrophy, discussing the variations in statistical data and the general lack of awareness within the medical community, which often leads to misdiagnosis or delayed treatment.Measuring SuccessBob shares insights into measuring the success of his nonprofit efforts, emphasizing the importance of community recognition and the respect of medical professionals as key indicators of their impact.How to Connect and SupportListeners interested in supporting or learning more about corneal dystrophies can connect through the Corneal Dystrophy Foundation's website at CornealDystrophyFoundation.org, which also provides links to join Fuchs' Friends support groups.Final ThoughtsAs we wrap up this insightful conversation, we are reminded of the critical importance of advocacy and support in the realm of rare diseases. Bob's parting advice urges everyone not to dismiss changes in vision as normal aging but to seek expert advice, which could make a significant difference in outcomes.For those looking to dive deeper or contribute to this cause, visit our Action Page at CareMoreBeBetter.com. Together, we can spread awareness and support those facing these rare but impactful challenges.Transcripts + Complete Blog: https://caremorebebetter.com/saving-sight-with-robert-bellizzi-the-corneal-dystrophy-foundation

Michael Lopez, MD, PhD (he/him) is a pediatric neurologist, researcher and assistant professor at the University of Alabama in Birmingham, studying muscular dystrophy.

Today, speak up for others, especially those with disabilities. And treat them with respect—befriend them. -------- Thank you for listening! Your support of Joni and Friends helps make this show possible.     Joni and Friends envisions a world where every person with a disability finds hope, dignity, and their place in the body of Christ. Become part of the global movement today at www.joniandfriends.org   Find more encouragement on Instagram, TikTok, Facebook, and YouTube.

KSQD 01-24-2024: Introduction to mitochondria and related diseases that associate with Long COVID; Practical advice if you have post-COVID syndrome; Mitochondria research related to post-COVID symptoms and nutritional supplements that help; more about chronic fatigue, myalgic encephalitis and long COVID; Does a caller have long COVID? What to check to confirm; The function of neutrophils in autoimmune disease and the benefits of ginger to dampen overreaction of the immune system; A case of retinal dystrophy

Harvey Grober shares his deeply personal story after Three potentially life limiting restrictions including being diagnosed with Muscular Dystrophy at the young age of 19. After taking a spiral down into alcoholism he has come through the other side stronger and more focussed than ever! Tune in to see what he's achieved for himself regardless of the challenges he has faced! A true winner!Presented by Colin Wyatt of Happy Mind Happy You:happymindhappyyou.cominstagram.com/happy_mind_happy_you/facebook.com/happymindhappyyouKindaSound Radio:Catch Happy Mind Happy You on Wednesdays at 19:30 UK on KindaSound Radio: KindaSound.orgListen to all his episodes at kindasound.org/happymindhappyyouThe music we play on the radio is removed from podcast episodes due to copyright limitations.Follow KindaSound Radio on Instagram and Facebook.Connect with the KindaSound team on Telegram: https://t.me/ksradioNew podcast episodes on the Tuesday after they air.

Keisha Greaves, the founder of Girls Chronically Rock, has always been passionate about fashion. Born and raised in Cambridge, MA, Keisha has a bachelor's degree in Fashion Design and Merchandising and an MBA. At age 24, she was diagnosed with Limb-Girdle Muscular Dystrophy, and her life changed. But far from being bogged down by it, Keisha decided not only to embrace it but to celebrate Muscular  Dystrophy and other chronic illnesses, giving life to her dream of starting a fashion line. Today, Keisha is a motivational speaker who talks about spreading awareness of Muscular Dystrophy, balancing life with chronic illnesses, raising money for causes, advocating for  disability, and other related topics. Girls Chronically Rock      

Hear Joni tell an inspiring story about a girl named Katie who lives with muscular dystrophy. Today, if you've got goals in mind, join Katie in committing those plans to God. Don't let anything stop you.

Thanks Dr Ralph for a great exam performance!For the FULL video check out https://anaesthesia.thinkific.com/courses/FinalExamThe Stem13yo male presents to emergency department in a small rural hospital (2 theatres, 1 ward, no HDU/ICU) with right iliac fossa abdominal pain. Past historyDuchenne's muscular dystrophyWheelchair boundSevere scoliosis50kg recent weightVitalsHR 110 SRBP 100/70Sats 95% or 2L NP oxygenResp rate 40Temp 37.4 BloodsFBE 120WCC 13 x 109/LPlt 400 x 109/LThe surgeon is concerned about a ruptured appendix and would like to urgently go to theatre for a laparoscopic appendicectomy. His father is very concerned about the anaesthetic. What is Duchenne's muscular Dystrophy and what are the concerning aspects of this disease for the anaesthetic?---------Find us atInstagram: https://www.instagram.com/abcsofanaesthesia/Twitter: https://twitter.com/abcsofaWebsite: http://www.anaesthesiacollective.comPodcast: ABCs of AnaesthesiaPrimary Exam Podcast: Anaesthesia Coffee BreakFacebook Page: https://www.facebook.com/ABCsofAnaesthesiaFacebook Private Group: https://www.facebook.com/groups/2082807131964430---------Check out all of our online courses and zoom teaching sessions here!https://anaesthesia.thinkific.com/collectionshttps://www.anaesthesiacollective.com/courses/---------#Anesthesiology #Anesthesia #Anaesthetics #Anaesthetists #Residency #MedicalSchool #FOAMed #Nurse #Medical #Meded ---------Please support me at my patreonhttps://www.patreon.com/ABCsofA---------Any questions please email abcsofanaesthesia@gmail.com---------Disclaimer: The information contained in this video/audio/graphic is for medical practitioner education only. It is not and will not be relevant for the general public.Where applicable patients have given written informed consent to the use of their images in video/photography and aware that it will be published online and visible by medical practitioners and the general public.This contains general information about medical conditions and treatments. The information is not advice and should not be treated as such. The medical information is provided “as is” without any representations or warranties, express or implied. The presenter makes no representations or warranties in relation to the medical information on this video. You must not rely on the information as an alternative to assessing and managing your patient with your treating team and consultant. You should seek your own advice from your medical practitioner in relation to any of the topics discussed in this episode' Medical information can change rapidly, and the author/s make all reasonable attempts to provide accurate information at the time of filming. There is no guarantee that the information will be accurate at the time of viewingThe information provided is within the scope of a specialist anaesthetist (FANZCA) working in Australia.The information presented here does not represent the views of any hospital or ANZCA.These videos are solely for training and education of medical practitioners, and are not an advertisement. They were not sponsored and offer no discounts, gifts or other inducements. This disclaimer was created based on a Contractology template available at http://www.contractology.com.

In this episode, I catch up with Jed from Team Jed ahead of his 24-hour workout. Team Jed - a fund dedicated solely to raising money for research into Muscular Dystrophy . . . Keep in touch with Team Jed. Ted 24 hr workout - https://www.teamjed.co.uk/projects/jed's-24hr-workout About Team Jed -https://www.teamjed.co.uk/about Instagram Team Jed - https://www.instagram.com/teamjed_/ Please subscribe on Apple Podcast, Spotify or SoundCloud. . If you like the show please share it with someone. . . . Leave me a rating on Apple Podcast - podcasts.apple.com/gb/podcast/big-…see-all/reviews . . . Keep In Touch On LinkedIn - www.linkedin.com/in/matthew-gardner-498908142/ Keep in Touch On Instagram - www.instagram.com/mattgardnernutrition/ . . . 33 Fuel: Natural sports nutrition products. www.33fuel.com/mattgardnernutrition to claim 15% off. Or MATTGARDNERNUTRITION at checkout to claim 15% off.

Professor Andrew Lotery from the University of Southampton joins this episode of the My Macular and Me podcast to talk to us about Sorsby Fundus Dystrophy. For further information on Sorsby Fundus Dystrophy please visit our website: https://www.macularsociety.org/macular-disease/macular-conditions/sorsby-fundus-dystrophy/The Macular Society has been supporting people with macular conditions for over 30 years. The right information and support can help people overcome their worries and retain their independence. We provide free information and support to those with macular disease, along with their family and friends. If you or a family member need advice or support, please make sure to reach out. No one has to face macular disease alone. Please call us on 0300 3030 111.

Trends in hair, skin, and nail supplement use: Data from the National Health and Nutrition Examination Survey 2011-2020. Trepanowski N, Moore KJ, Kim DY, Hartman RI. Journal of the American Academy of Dermatology. 2023 Jul 1;89(1):161-3.Median canaliform nail dystrophy in a 2-year-old boy: Case report and review of the literature. Wilson A, Tariq Khan M, Murrell DF. Pediatric Dermatology. 2022 Nov 13.The use of marigold therapy for podiatric skin conditions. Hadfield RA, Vlahovic T, Khan MT. Foot and Ankle Online Journal. 2008 Jul 1.

Dr. Keith Baratz, cornea and complex anterior segment surgeon shares with us the fascinating science behind Fuchs and lessons learned over the course of his career as a physician scientist. Subscribe to the podcast:  https://MayoClinicOphthalmology.podbean.com  Follow and reach out to us on Twitter: @mayocliniceye 

On University at Albany Week:  We still need to find a cure for many afflictions. Andrew Berglund, director of the RNA Institute and professor of biological sciences, details one of these. Dr. Berglund's scientific career has revolved around understanding the role of RNA in biology. The focus of his research is on neuromuscular diseases with […]

In this episode, we review the high-yield topic of Myotonic Dystrophy Type 1 ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠from the MSK section. Follow ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Medbullets⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ on social media: Facebook: www.facebook.com/medbullets Instagram: www.instagram.com/medbulletsofficial Twitter: www.twitter.com/medbullets --- Send in a voice message: https://podcasters.spotify.com/pod/show/medbulletsstep1/message

Please tell us what you think of our show in a brief 2-minute survey: https://forms.office.com/r/B4rYtvpQad How common is choroidal neovascularization in Best's disease? Host Dr. Drew Carey and author Dr. Ian C. Han discuss the results of his Ophthalmology Retina article, “Choroidal Neovascularization Is Common in Best Vitelliform Macular Dystrophy and Plays a Role in Vitelliform Lesion Evolution.” Choroidal Neovascularization Is Common in Best Vitelliform Macular Dystrophy and Plays a Role in Vitelliform Lesion Evolution. Han, Ian C. et al. Ophthalmology Retina.

Kate Arkell, Research Development Manager at Retina UK hosts this edition alongside Dr Madina Kara, Director of Research and Innovation at Fight for Sight. They are joined by Prof Graeme Black and Prof Alison Hardcastle. Graeme is Professor of Genetics and Ophthalmology at Manchester Uni, and a consultant ophthalmologist at Manchester Royal Eye Hospital. He is the original lead investigator of the UKIRDC. Alison is Professor of Molecular Genetics and Deputy Director of Research within the Institute of Ophthalmology, University College London. Alison is current lead investigator of the UKIRDC They discuss the UK Inherited Retinal Dystrophy Consortium, or UKIRDC, which has sometimes been referred to as the RP Genome Project. This is a major research project, which started in 2014, and has been funded by Retina UK with support from Fight For Sight. With a significant proportion of inherited retinal conditions being caused by unidentified genetic faults, and many families unable to get clear results from genetic tests in clinic, the project set out to solve previously undiagnosable cases and discover more of the genes and mutations that are associated with sight loss.

Transcript: https://www.rev.com/transcript-editor/shared/Yk8ZzAqMj8RkwPWrnDeD2ibMVVMjS7t0vqVjpPxoDH4jXaLZ2Fb7JEVDBL1uBZ8FM7u-mRzlf79V3Oy6_8Rn_20k0hQ?loadFrom=SharedLinkBefore starting the Runway of Dreams Foundation in 2014, Mindy spent 20 years working in fashion as a designer for the INC collection and as a stylist for Saks Fifth Avenue. Mindy was inspired to start Runway of Dreams after her son Oliver, who has Muscular Dystrophy, dreamed of wearing jeans like everyone else. After using her design skills to adapt jeans that met his needs and increased his confidence, she went on to conduct extensive research as to the modifications required to mainstream clothing to meet the needs of the largest minority in our world- people with disabilities.In 2016, Mindy partnered with Tommy Hilfiger to make fashion history by creating the first mainstream adaptive clothing line in the market. Runway of Dreams was founded on the basis that clothing is a basic human need. The foundation develops, delivers, and supports initiatives providing a platform to broaden the reach of mainstream adaptive clothing and promote people with disabilities (PWDs) in the fashion industry. This year's Runway of Dreams fashion show was recognized as one of the top seven NYFW shows by Forbes, highlighting the latest designs from the Adaptive category featuring brands such as Kohl's, Target, JCPenney, Zappos.com and Tommy Hilfiger.Due to the overwhelming amount of requests Mindy received at Runway of Dreams from a multitude of brands and industries for connection to PWDs, in 2019, Mindy created GAMUT Management. GAMUT is a trailblazing consulting and talent management company that represents people with disabilities (PWDs), across the fashion, lifestyle, and entertainment industries.GAMUT exists to lead brands towards doing better, more inclusive business, helping to engage with, and develop new products for PWDs. GAMUT works with a diverse range of clients including Adidas, Victoria's Secret, Footlocker, Kohls & QVC.Mindy has been featured in Newsweek's “The Creative Class of 2019: Innovators,” and People magazine's “Heroes Among Us: Making the Fashion Industry More Inclusive”. She has also been featured in USA Today, Parents Magazine, The New York Times, The Washington Post, Vogue Business, WWD, NBC's Today, ABC's Good Morning America & The View, Access, CNBC, Forbes, Hollywood Reporter and Fox News Channel.An inspiring TED Talk speaker, Mindy has received numerous awards including Arc's Catalyst Award for “Marketing Influencer of the Year”, Citrin Cooperman's “Women at the Wheel Leadership Excellence Award”, the Association of Image Consultants “International Bravo Award” and Enable Inc.'s “Michael Graves Award for Creativity and Persistence”. Mindy has also been given the honor of ringing the bell at the New York Stock Exchange in recognition for her innovative work in the Adaptive space towards raising awareness and driving change for people with disabilities.Mindy studied Fashion Design with a dual program at the University of Vermont and Fashion Institute of Technology.TED Talk: https://www.ted.com/talks/mindy_scheier_how_adaptive_clothing_empowers_people_with_disabilities?language=enABC The VIEW: https://www.youtube.com/watch?v=I9KA-ftCtngConnect with the Rocky Mountain ADA Center at https://rockymountainada.org/ or find us on social media. Don't forget to subscribe, rate and review us on Apple Podcasts, Stitcher, Spotify or anywhere else you get your podcasts!

Sila Bal, MD, MPH, welcomes Daniel S. Choi, MD, to discuss the case of a 65-year-old woman with Fuchs endothelial dystrophy who was interested in a corneal transplant. Dr. Choi outlines the surgical steps and indications for penetrating keratoplasty (PKP), Descemet stripping endothelial keratoplasty (DSEK), and Descemet membrane endothelial keratoplasty (DMEK). He also explains the potential postoperative complications one might experience following each procedure and reveals how he would approach this case. Drs. Bal and Choi also touch on newer developments for treating endothelial dystrophy such as Descemet stripping only (DSO).

Meet P.J. Dixon, who has a rare form of Muscular Dystrophy that was expected to take his life by age 7. He chose to live, and live well. He is wheelchair-bound but doesn't depend on it because his desire to live and live it well has no boundaries or limitations that include sky diving, hiking, being a former wheelchair athlete and SO much more. His "different" ability will inspire you! Here is PJ's life living without boundaries. Thank you to my studio sponsor: The Motivated Mind Group A global creative agency located in downtown Chandler, Arizona Have a story of Hope? Want to be a sponsor? I would love to hear from you. Email: Stories@ChristineHotchkiss.com StoriesOfHope.Christine@gmail.com --- Send in a voice message: https://anchor.fm/storiesofhope/message Support this podcast: https://anchor.fm/storiesofhope/support

Dr. Lucy Abgaryan, the co-founder and CEO of GrittGene Therapeutics, a biotech company based in Los Angeles, California, joins us to discuss how her company is working to find treatments for Myotonic Dystrophy, a rare genetic disorder that causes progressive muscle loss and weakness. Lucy also shared with us her experience in trying to find opportunities to work with the local Armenian biotech industry.

Dr. Lucy Abgaryan, the co-founder and CEO of GrittGene Therapeutics, a biotech company based in Los Angeles, California, joins us to discuss how her company is working to find treatments for Myotonic Dystrophy, a rare genetic disorder that causes progressive muscle loss and weakness. Lucy also shared with us her experience in trying to find opportunities to work with the local Armenian biotech industry. The post Dr. Lucy Abgaryan: Finding Treatments for Myotonic Dystrophy appeared first on EVN Report.

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2022.10.31.514523v1?rss=1 Authors: Popov, A., Brazhe, N., Morozova, K., Yashin, K., Bychkov, M., Nosova, O., Sutyagina, O., Brazhe, A., Parshina, E., Li, L., Medyanik, I., Korzhevskii, D. E., Shenkarev, Z., Lyukmanova, E., Verkhratsky, A., Semyanov, A. Abstract: How aging affects cellular components of the human brain active milieu remains largely unknown. We analyzed astrocytes and neurons in the neocortical access tissue of younger (22 - 50 years) and older (51 - 72 years) adult patients who underwent glioma resection. Aging decreased the amount of reduced mitochondrial cytochromes in astrocytes but not neurons. The total amount of protein was decreased in astrocytes and increased in neurons. Aged astrocytes showed morphological dystrophy quantified by the decreased length of branches, decreased volume fraction of leaflets, and shrinkage of the anatomical domain. Dystrophy correlated with the loss of gap junction coupling between astrocytes and increased input resistance. Aging was accompanied by the upregulation of glial fibrillary acidic protein (GFAP) and downregulation of membrane-cytoskeleton linker Ezrin associated with leaflets. No significant changes in neuronal excitability or spontaneous inhibitory postsynaptic signaling were observed. Thus, brain aging is associated with the impaired morphological presence and mitochondrial malfunction of astrocytes, but not neurons. Copy rights belong to original authors. Visit the link for more info Podcast created by Paper Player, LLC

In this week's podcast, Neurology Today's editor-in-chief discusses data suggesting vamorolone as an alternative to corticosteroids for Duchenne muscular dystrophy, how an aquaporin protein promotes amyloid clearance, and neurologic events associated with monkeypox virus.

On today's episode, I talk to musician Tony Molina. Constantly juggling hardcore and pop projects, veteran Bay Area musician Tony Molina has won over fans in both camps. Since 2002, Tony has played in several bands including Dystrophy, Ovens, Lifetime Problems, Caged Animal, Violent Change, as well as his own solo work which lives somewhere between early Weezer and Guided by Voices. These albums have been released on labels like Matador and Slumberland, and his most recent In the Fade came out in early August on Run for Cover, and it's great! This is the website for Beginnings, subscribe on Apple Podcasts, follow me on Twitter.

September 15th is International Myotonic Dystrophy Awareness Day. To learn more about helping educate and advocate for Myotonic Dystrophy visit the Muscular Dystrophy Association or Myotonic Dystrophy Foundation. The purpose of this Awareness Day is to garner the attention of the wider general public, policy makers, regulators, biopharmaceutical representatives, researchers, health care professionals, and anyone with an interest in changing the future of myotonic dystrophy. Raising awareness of myotonic dystrophy will help improve service provision, basic research, drug development, and policymaking related to the disease. Increased funding for myotonic dystrophy research will improve health outcomes, reduce disability, and increase life expectancy for individuals living with the disease, and holds great promise for helping individuals with diseases with similar genetic bases, such as Fragile X syndrome and Huntington's disease. To learn about the different types of myotonic dystrophy, visit this NORD webpage. In addition to this podcast host/producer who lives with Myotonic Dystrophy Type 1, the following podcast episodes have featured guests living with DM1, DM2, or caregivers in a DM family: Food = Medicine Passion and Motivation to Move through the Hard Stuff Working with Wounded Warriors Music Gives Me a Peace Bubble Salute to Caregivers Stories of Healing with Essential Oils

For Fuchs's sake, taking out the stingHyperosmolar Eye Drops for Diurnal Corneal Edema in Fuchs' Endothelial DystrophyProfessor Stephanie Watson talks taking the sting out of Hyperosmolar Eye Drops for Diurnal Corneal Edema in Fuchs' Endothelial Dystrophy. Do the clinical outcomes support their use, and how robust was this Double-Masked, Randomized Controlled Trial?View article hereStephanie Watson is the Head of the Corneal Research Group at the Save Sight Institute at the University of Sydney. She is the co-Deputy Director of Industry, Innovation and Commercialisation at Sydney Nano, the Head of the Corneal Unit at Sydney Eye Hospital and Chair of Australian Vision Research (formerly Ophthalmic Research Institute of Australia).

Fuchs' corneal dystrophy is a fluid build-up in the cornea that's the clear window in the eye. And what happens in Fuchs' dystrophy, which is genetically passed on from generation to generation, is that the cornea begins to swell, it thickens and this leads to a lot of blurry cloudy vision. But there's a new drug treatment on the horizon. And it's called a ROCK inhibitor. A ROCK inhibitor in some of the latest research is beginning to show some benefit For Fuchs' dystrophy and some of the clinical trials in this ROCK pathway. Enjoy the show.

Achromatopsia, Choroideremia, Blue Cone Monochromacy, Cone-rod Dystrophy and X-linked Retinoschisis. Speakers: Christine Kay, MD and Robert Hufnagel, MD, PhD

Best's Syndrome is macular dystrophy involving part of the retina. So today we will cover what it is, what some of the symptoms are, and how you combat it. Enjoy the show.

This episode was heavy and I do mean heavy on geography and google maps chat so we brought in someone who used to be local to tell us what all these weird names and numbers actually mean. Certified heavy guitarist SHELBY LERMO helps us get to the bottom of a very early but not at all uncharacteristic record from the very earliest footsteps of underground power-pop sensation TONY MOLINA's path to great fortune. Come on, let's dig the speedy satanic skate-grind of DYSTROPHY together.

The Journal RETINA is devoted exclusively to diseases of the retina and vitreous. These podcasts are intended to bring to its listeners summaries of selected articles published in the current issue of this internationally acclaimed journal.  

The guys start off the episode by discussing the career of Gilbert Gottfried and the recent documentary ‘Gilbert' (00:51).  They discuss how he often kept his private life out of the public eye, prior to the documentary. They discuss some things they did not know about him including his relationship with his wife and kids and his reputation amongst comedians as being frugal. They also chat about his roles in ‘Beverly Hills Cop 2' and as Iago in ‘Aladdin', as well as the duck from Aflac. They chat about how he was considered the ‘comic's comic' and how that reputation got him into hot water with jokes shortly after 9/11 (and  how he followed it up with ‘The Aristocrats' joke). The guys then mention how he was fired from being the Aflac duck after tweets joking about the Japanese tsunami. Then, Ali asks Asif about the disease Gilbert suffered from, myotonic dystrophy (21:16). Asif outlines first what myotonia is, and then describes the two types of myotonic dystrophy, Type 1 and the kind Gilbert suffered from, Type 2. Asif then takes an aside to discuss ventricular tachycardia, which is a known complication of myotonic dystrophy. He then describes the genetics of myotonic dystrophy and how we think the gene changes cause symptoms.  The opinions expressed are those of the hosts, and do not reflect those of any other organizations. This podcast and website represents the opinions of the hosts. The content here should not be taken as medical advice. The content here is for entertainment and informational purposes only, and because each person is so unique, please consult your healthcare professional for any medical questions.    Music courtesy of Wataboi and 8er41 from Pixabay   Contact us at doctorvcomedian@gmail.com   Follow us on Social media: Twitter: @doctorvcomedian Instagram:  doctorvcomedian   Show Notes:   ‘Gilbert' trailer: https://www.youtube.com/watch?v=03Uy88M3ymw Comedian Gilbert Gottfried died of rare, often overlooked disease: https://www.nbcnews.com/news/us-news/comedian-gilbert-gottfried-died-rare-often-overlooked-disease-rcna24129 Myotonia on EMG: The myotonic dystrophies: molecular, clinical, and therapeutic challenges: https://www.sciencedirect.com/science/article/pii/S1474442212702041?casa_token=gwoUb9Y9J3kAAAAA:fmanUIZXvjc9-nB3ZN-rqfRlvkbZQvtQS0lnO7qAqpj9iiOWiI0z53-JazyjCGW0baS3ofFgDdcJ

Disabled 20 Year Old and Activist Elijah Stacy talks about the non-profit he started to help fight Duchenne Muscular Dystrophy.

Today I welcome Keisha Greaves. At 24 years-of-age, Keisha was diagnosed with Limb-Girdle Muscular Dystrophy; she later started the Girls Chronically Rock clothing line to inspire others with chronic illnesses to have confidence and not let their disability define who they are. Keshia is a motivational speaker, has a Master's in Business Management, and is the Massachusetts State Ambassador for the Muscular Dystrophy Association.

Dr. Ballios discusses his group's findings on novel mutations in the RCBTB1 gene that can cuase late-onset non-syndromic retinal dystrophies mimicking macular degeneration. Full article: Catomeris AJ, Ballios BG, Sangermano R, Wagner NE, Comander JI, Pierce EA, Place EM, Bujakowska KM, Huckfeldt RM. Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy. Ophthalmic Genet. 2022 Jan 20:1-8. doi: 10.1080/13816810.2021.2023196. Epub ahead of print. PMID: 35057699.

Aging-US published a Special Collection on Eye Disease which included "A comprehensive evaluation of 181 reported CHST6 variants in patients with macular corneal dystrophy" which reported that macular corneal dystrophy is an autosomal recessive disease featured by bilateral progressive stromal clouding and loss of vision, consequently necessitating corneal transplantation. In this study, the authors integrated all the reported CHST6 variants described in 408 MCD cases, and performed a comprehensive evaluation to better illustrate the causality of these variants. In addition, the results underscored the strong correlation between mutant frequency and residue conservation in the general population, thus providing potential candidate targets for further genetic manipulation. Dr. Jianjiang Xu from The Fudan University said, "Macular corneal dystrophy (MCD; OMIM 217800) is an autosomal recessive disease featured by bilateral progressive stromal clouding and loss of vision, finally necessitating corneal transplantation." The CHST6 gene spans approximate 23 kb of the short arm of chromosome 16 and consists of 4 exons and a 1,187 bp open reading frame. The encoded protein CHST6 contains 395 amino acids with a molecular weight of 44 kDa. Variants in CHST6 gene have been recognized as the most critical genetic components in MCD. To date, more than 100 frameshift, nonsense, or missense variants in CHST6 were described in patients with MCD I/IA. In MCD II patients, large rearrangements and deletions in the upstream of CHST6 were initially reported, followed by subsequent identification of mutations within the coding region of CHST6. However, substantial genetic heterogeneity still exists, and there is no study systematically evaluating CHST6 variants in MCD patients, in particular with regards to genotype-phenotype correlation and informing on the significance of specific variants. In the current study, the authors conducted a comprehensive evaluation of all 181 CHST6 variants described in MCD patients, and then classified the pathogenicity of those variants according to the American College of Medical Genetics and Genomics guidelines. The Xu Research Team concluded in their Aging-US Research Output, "the current comprehensive evaluation contributed to the most updated in-silico classification of all reported CHST6 variants till now. Although the vast majority of CHST6 variants are likely to be protein damaging, systematic functional investigations are still in urgent need to demonstrate the pathogenicity of these variants." Full Text - https://www.aging-us.com/article/101807/text Correspondence to: Jianjiang Xu email: jianjiangxu@126.com Keywords: CHST6, macular corneal dystrophy, genetic variants About Aging-US Launched in 2009, Aging-US publishes papers of general interest and biological significance in all fields of aging research as well as topics beyond traditional gerontology, including, but not limited to, cellular and molecular biology, human age-related diseases, pathology in model organisms, cancer, signal transduction pathways (e.g., p53, sirtuins, and PI-3K/AKT/mTOR among others), and approaches to modulating these signaling pathways. To learn more about Aging-US, please visit http://www.Aging-US.com or connect with @AgingJrnl Aging-US is published by Impact Journals, LLC please visit http://www.ImpactJournals.com or connect with @ImpactJrnls Media Contact 18009220957x105 MEDIA@IMPACTJOURNALS.COM

Hosts Pat & Flora Morrow, Erik Nanarone and the crew talk about the Hororors of HOA's Hurricane Ida's position and strength, Erik brings us a clip on Rejection Sensitivity Dystrophy (RSD) Syndrome and Pat introduces us to his new ad for the station.

Now a cheerleader of Hope, Barby Ingle tells her story of how she went from excelling in cheerleading, dance, and gymnastics to battling chronic pain after a disastrous accident. Through her search for a cure for her Reflex sympathetic Dystrophy, she became her own best advocate and strives to share the information she has learned so others don't have to experience the same disheartening struggles. After the show, learn more at: www.internationalpain.orgSupport the show (http://thebizreveal.com/donate)

Our guest this week is Emily Davey, recent RPI graduate currently working in the Berglund lab at the RNA Institute of the University of Albany. Having both a personal connection and an interest in myotonic dystrophy since middle-school, Emily discusses her journey of carrying this passion all the way into her research career both during and post-college. She also details her experience in not only being able to applied what she's learned, but also teaching it back in to both high-schoolers and post-docs alike. Want to join our team? Submit research? Join the podcast? Website link: eruditenurj.org Apply link: eruditenurj.org/apply Submit link: eruditenurj.org/submit Podcast: eruditenurj.org/podcast Give us a like and follow on our social media: @EruditeNURJ on Facebook, Twitter, Instagram and LinkedIn

When you think of someone with a disability, what do you think of? Do you feel sorry for them? Do you picture them being limited and unable to live a full life? If so, Emma Gonsalves will change the way you think. She was born with muscle dystrophy, a (sometimes deadly) disorder which is a progressive weakening and waste of muscle tissue. We sit down to discuss how she is striving every day to better herself and never uses her disability as an excuse to sit at home. Emma talks about growing up different than others, countless surgeries, learning to overcome her own self to find self love, and how she wants to help the world and others like her in the future.

Time for some detective work - can you diagnose the cause of this man's shoulder pain? Listen out for the clues in this interesting case study. When your shoulder pain patient has bilateral shoulder pain after starting a gym program, difficulty lifting their arms overhead due to weakness, significant bilateral scapular winging and muscle atrophy, what are your potential diagnoses? Find out in this case study with Jo Gibson (Clinical Physiotherapy Specialist), and discover: When patients have uncommon shoulder pain presentations, what potential diagnoses can you keep in mind? How does it impact your diagnosis if your patient has difficulty smiling, whistling and drinking through a straw? What's this patients' diagnosis? What tests can be performed to confirm the diagnosis? Which muscles are commonly affected? How much muscle weakness commonly occurs? What is the long term prognosis for this condition? What treatment is supported by the evidence? Are braces helpful? Which medical specialists are important to include in diagnosis & management? Accurately assess, diagnose & treat stiff shoulders, including frozen shoulder, with this free videos series from Jo Gibson (Clinical Physiotherapy Specialist) at clinicaledge.co/shoulder The handout for this podcast consists of articles referenced in the podcast. There is no additional transcript or handout available. Links associated with this episode: Accurately assess, diagnose & treat stiff shoulders, including frozen shoulder, with this free videos series from Jo Gibson (Clinical Physiotherapy Specialist) Improve your acute shoulder pain diagnosis with 3 free videos from Jo Gibson The Facioscapulohumeral Muscular Dystrophy (FSHD) Society Improve your confidence and clinical reasoning with a free trial Clinical Edge membership Join Jo Gibson live on Facebook & ask your shoulder related questions every Monday Download and subscribe to the podcast on iTunes Download the podcast now using the best podcast app currently in existence - Overcast Listen to the podcast on Spotify Jo Gibson on Twitter Let David know what you liked about this podcast on Twitter Review the podcast on iTunes Infographics by Clinical Edge Articles associated with this episode: CLICK HERE to download the articles associated with this podcast Hamel J, Tawil R. Case Studies on the Genetic and Clinical Diagnosis of Facioscapulohumeral Muscular Dystrophy. Neurologic Clinics. 2020 Aug 1;38(3):529-40. Mul K, Lassche S, Voermans NC, Padberg GW, Horlings CG, van Engelen BG. What's in a name? The clinical features of facioscapulohumeral muscular dystrophy. Practical neurology. 2016 Jun 1;16(3):201-7.

This episode answers questions about how refractive surgery and chemotherapy from breast cancer affect lens health, how to improve a large prescription discrepancy between the two eyes, how to help with optic neuropathy, and what can be done to reduce Fuch's dystrophy. Question 1: “Years ago I had RK. As a result, I have high eye pressure and astigmatism.  Then, because of breast cancer, I had chemotherapy.  Now, I'm told I have cataracts. Any suggestions would be greatly appreciated!”  Question 2: “My vision in the left eye is-1.75 and in my right eye it's -5.00. What do you recommend?” Question 3: “How do you stop eye neuropathy?” Question 4: “What is your advice for Fuch's Dystrophy?”

This episode answers questions about how refractive surgery and chemotherapy from breast cancer affect lens health, how to improve a large prescription discrepancy between the two eyes, how to help with optic neuropathy, and what can be done to reduce Fuch's dystrophy. Question 1: “Years ago I had RK. As a result, I have high eye pressure and astigmatism.  Then, because of breast cancer, I had chemotherapy.  Now, I'm told I have cataracts. Any suggestions would be greatly appreciated!”  Question 2: “My vision in the left eye is-1.75 and in my right eye it's -5.00. What do you recommend?” Question 3: “How do you stop eye neuropathy?” Question 4: “What is your advice for Fuch's Dystrophy?”