Podcasts about hibm

Wheelchair Accessible Van Conversion with Cara Elizabeth Yar Khan hosted by Carden Wyckoff Transcript https://rb.gy/pcolzy Who is Cara Yar Khan? Cara Elizabeth Yar Khan is an entrepreneurial humanitarian and disability advocate who has had an invigorating career, spanning ten countries, so far. In 2001, Cara embarked on her international travels to work in Ecuador with the United Nations World Food Programme where she served for two years as a Fundraising and Communications Officer. Her many years with the United Nations Children's Fund (UNICEF) started in Private Sector Partnerships. When she also took on the role of disability focal point during the Earthquake Emergency Recovery Operation in Haiti it launched a successful public speaking career. Cara has a masters degree from Johns Hopkins University, School of Advanced International Studies which she pursued in Italy. She is gifted in languages, fluent in Spanish, conversational in basic Mandarin Chinese and has working knowledge of French and Portuguese. At the age of 30, Cara was diagnosed with a rare muscle wasting disease, called HIBM that leads to quadriplegia. Since then she has used her platform to break glass ceilings. As part of her advocacy work, she is also producing a documentary film with the legendary Sam Pollard and is writing her first memoir with Carol Mann Agency. Today Cara lives in Smyrna, GA with her husband, U.S. Army SSG. (Ret.) John Masters and Southern cat, Bubba and kitten Moon. Resources https://www.carayarkhan.com/ https://www.hibmthefilm.com/ https://www.linkedin.com/in/cara-e-yar-khan/ https://www.facebook.com/cara.e.yarkhan/ https://www.instagram.com/cara_yarkhan/ Follow Carden on Instagram @freewheelinwithcardenFind Carden everywhere Special thanks to my producer Jonathan Raz on Fiverr.com Use referral code 'Carden' when downloading iAccessLife mobile app.

Are you ready to explore the magic in finding your balance between courage and fear? Cara Elizabeth Yar Khan is an entrepreneurial humanitarian and disability advocate who has had an invigorating career, spanning ten countries, so far. In 2001, Cara embarked on her international travels to work in Ecuador for two years with the United Nations World Food Programme before another two years with corporate giant Dell Panama where she managed Corporate Communications. For 10 years with the United Nations Children's Fund (UNICEF) in Private Sector Partnerships Cara had assignments in 7 different countries. In Haiti, Cara also took on the additional role of disability focal point during the Earthquake Emergency Recovery Operation. This role led to a successful public speaking career and agent representation with Seth Dechtman. To accompany her Master's degree from Johns Hopkins University, School of Advanced International Studies, Cara is gifted in languages, fluent in Spanish, conversational in basic Mandarin Chinese and has a working knowledge of French and Portuguese. Born in India and raised in Canada by a multi-ethnic family of Indian Muslim, British Anglican and Chinese Buddhist immigrants, in 2006, Cara was diagnosed with a rare muscle-wasting disease, called HIBM, that leads to quadriplegia. Since then, Cara has used her platform to advocate for the rights and inclusion of people with disabilities. As part of her advocacy work, Cara is producing a documentary film, directed by Celia Aniskovich with the legendary award-winning filmmaker Sam Pollard as Executive Producer. Cara is also writing her first memoir with the Carol Mann Agency in NYC. The highlight of her career, to date, was speaking at the 2019 TED Women conference. Her TED talk, "The beautiful balance between courage and fear" has been viewed more than 2.2 million times since its release. Today Cara lives in Atlanta, GA with her husband, U.S. Army SSG. (Ret.) John Masters and Southern cats, Bubba and Moon. In this episode, we open the show and talk about how ableism still affects people with disabilities. Also, we discuss why it's so uncomfortable to talk about past traumas and the reason we need to destigmatize these deep and necessary conversations. There's so much shame associated with them. When in reality, there shouldn't be any shame, and there shouldn't be any discomfort. As a collective, we need to work on giving each other grace for our imperfections. Later, we dig in and speak about the healing power of nature, especially in the Grand Canyon. When we get out into nature, there is a transformation that can happen on our healing journey. Nature will give us the space to find more clarity within our lives. Plus, we talk about the importance of mindfulness and staying in the present moment, especially when soaking in our lands' majestic scenery. Tune in as we dive into relationships and what it feels like to find a soulmate. In This Episode: About Cara Elizabeth Yar Khan [ 1:40 ] How our courage lives within us [ 11:30 ] Why it’s uncomfortable to talk about past trauma [ 19:00 ] How the power of forgiveness can guide us on our journey [ 21:50 ] All about working in the Grand Canyon [ 30:05 ] About the healing power of nature in the Grand Canyon [ 45:45 ] Why we need to stop questioning each other [ 50:40 ] Quotes: “I've been privileged enough to somehow find courage, to live just as a productive, happy, fulfilled life now and proudly as a woman with a disability.” “I hope that together as a collective, our war of imperfection will be a great sense of pride.” “In the Grand Canyon, you realize that it’s a place holding so much spirit.” “The Grand Canyon is a wonderful place to kick your ego’s ass.” “My life isn't all about me; when it's about others, that's where I shine.”   Links Mentioned:  Sara’s Facebook Live Boldly Walk Through This Join My Retreats Cara’s LinkedIn Cara’s Website Like Cara on Instagram Follow Cara on Twitter

Masters enlisted in the United States Army in 2001 and served as an Airborne Ranger. Between 2002 and 2005, he deployed to Afghanistan three times and once to Iraq. He was honorably discharged and went to college to study film at the New York Film Academy. In 2007, he enlisted in the United States Army Reserves and reclassified his military occupational specialty to combat cameraman. Masters received training through the Army in both photography and cinematography and deployed to Afghanistan in December 2009. While serving in Afghanistan as a combat cameraman, Masters was injured due to a severe blast and medically evacuated out. He received treatment at Walter Reed National Military Medical Center and medically retired in 2012. Looking to transition from his military career to his civilian career, Army Staff Sergeant John Masters now has a boost for his first film project, thanks to Hope For The Warriors® and its A Warrior’s Wish® program. Through A Warrior’s Wish, Masters received $15,000 of support to help fund the film Her Inescapable Brave Mission (HIBM), through his production company Masters Productions.   HIBM is a documentary of a 12-day expedition through the Grand Canyon featuring Masters wife, Cara. At just 30 years old Cara was diagnosed with a rare type of muscular dystrophy called Hereditary Inclusion Body Myopathy (HIBM). With John by her side, the film will follow Cara striding on horseback as she descends nearly 6,000 feet into the country’s deepest canyons and continue to follow her as she rafts 150 miles down the Colorado River. The goal of the project is to break down the barriers faced by people with disabilities and to inspire everyone to live bravely in the face of adversity. Link to sizzle reel of film: https://vimeo.com/271359388/9d0a62a400 Hope For The Warriors http://www.hopeforthewarriors.org/ 

In this moving episode, Samantha Paige reunites with her childhood friend, Jennifer Yashari, who opens up about living with hereditary inclusion body myopathy (HIBM), a rare degenerative disease that causes muscle cells to weaken progressively. Diagnosed in her early 30’s, Yashari, a psychiatrist, has learned to cope with the massive loss delivered with the disease and all the subsequent losses that have come in its wake over time. She started a blog, “Living with HIBM,” in 2011, and writes beautifully and with a piercing rawness about the experience of a living with an ever-evolving disability that affects how she moves, parents and interacts with the world. Yashari details the importance of mourning each and every loss fully, so that we can then do our best to be present in life, and fostering strong, loving relationships to support us on the ride. In telling her own story, she provides guidance and vision for how to speak with others about differences and how to maintain a connected mindfulness in the process. For more information on Jennifer Yashari, please visit her website, www.jenniferyasharimd.com, and her blog, www.livingwithhibm.com.

I had the pleasure to sit down and talk with Cara E. Yar Khan UNICEF, Child Protection Specialist. Cara joined UNICEF in 2007, after working 6 years with the U.N. World Food Program in Ecuador, Dell Inc. in Panama and as a private consultant in China. From UNICEF Angola, she was transferred to UNICEF China to support the Sichuan Earthquake Emergency Operation. This was followed by UNICEF assignments in Botswana, Madagascar, Mozambique, Thailand and most recently, Haiti, where she served as the Resource Mobilization Specialist and Disability Focal Point for two years.At the age of 30 was diagnosed with a very rare recessive genetic condition, Hereditary Inclusion Body Myopathy (HIBM). HIBM is an adult-onset progressive muscle-wasting disease which affects all skeletal muscles, typically leading to incapacity within 10-15 years. There are fewer than 1,000 known patients worldwide and at present, there is no approved treatment or cure. Thirteen years after her initial onset, the first fall, Cara now walks with the aid of leg braces and a walker.If you think that was going to stop her....YOU ARE WRONG! Her diagnosis has only strengthened her mission to reach more platforms to fight the stigma of disability.Cara is a true angel on earth and I am humbled by her grace. Take a few minutes to listen to her inspirational story.

Die Gruppe der hereditären Einschlusskörpermyopathien (heriditary inclusion body myopathy; hIBM) umfasst eine Vielzahl an erblich bedingten Muskelerkrankungen mit dem Hauptsymptom der Muskelschwäche. Ziel dieser Arbeit war es, bei Patienten mit der Verdachtsdiagnose einer Einschlusskörpermyopathie die Kandidatengene GNE und VCP auf krankheitsrelevante Mutationen hin zu überprüfen und durch klinische und molekularbiologische Charakterisierung einzelner Mutationen die molekulare Pathogenese der Erkrankung näher zu analysieren. Dazu wurde im Rahmen dieser Arbeit die DNA von 26 Patienten mit der Verdachtsdiagnose einer GNE-Myopathie oder IBMPFD (Einschlusskörpermyopathie assoziiert mit M. Paget und frontotemporaler Demenz) auf Mutationen untersucht. Zusammengesetzt heterozygote oder homozygote Mutationen im GNE-Gen führen zum Krankheitsbild der GNE-Myopathie (früher als HIBM2 bezeichnet), während für die IBMPFD eine autosomal dominante Mutation im VCP-Gen ursächlich ist. Drei Patienten trugen unterschiedliche Mutationen im GNE-Gen, das für das bifunktionale Enzym UDP-N-Acetylglucosamin-2-Epimerase / N-Acetylmannosamin-Kinase (GNE) kodiert. Als Erstsymptomatik der GNE-Myopathie fällt primär eine Muskelschwäche und –atrophie der distalen und proximalen Muskulatur auf, wobei der M. quadriceps femoris typischerweise ausgespart bleibt. Bei insgesamt vier der untersuchten Patienten konnte eine Mutation im VCP-Gen, das für das Valosin-containing protein (VCP) kodiert, festgestellt werden. Mutationen in diesem Gen führen zu einer IBMPFD, die durch die Symptomtrias Einschlusskörpermyopathie, Morbus Paget und früh einsetzender frontotemporaler Demenz gekennzeichnet ist. Mit einem mittleren Manifestationsalter von 45 Jahren zeigen sich bei den Patienten Symptome einer langsam progredienten distalen und proximalen Muskelschwäche. Im weiteren Verlauf können dann fakultativ Symptome eines ossären M. Paget und einer frontotemporalen Demenz hinzutreten. VCP gehört zur Gruppe der AAA-ATPasen, die in der Zelle mannigfaltige Funktionen erfüllen. VCP spielt auch eine Schlüsselrolle bei der Autophagie der Zelle. Durch Mutationen im VCP-Gen wird die Autophagosomenreifung gestört, was zu einer intrazellulären Akkumulation von Proteinen und zur Vakuolenbildung führt. Dadurch ist die Myofibrillenbildung beeinträchtigt und könnte damit einen Teil des Pathomechanismus der IBMPFD erklären. Diese Mechanismen sind für die häufigste humane Mutation im VCP-Gen (R155H) bereits gut untersucht. Unsere Versuche konnten bestätigen, dass auch die im Rahmen dieser Arbeit weltweit erste beschriebene Deletion im VCP-Gen (D120del) Störungen im Bereich der Autophagie verursacht. Auch auf struktureller Ebene wurde mit Hilfe der Immunfluoreszenzmikroskopie eine Störung der Myofibrillenbildung nachgewiesen. Daraus ergaben sich neben der klinischen Symptomatik gute Hinweise, dass die Deletion D120del auf einer ähnlichen Ebene wie die Mutation R155H pathophysiologische Mechanismen der IBMPFD beeinflusst.