Muscular Dystrophy

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    Staying positive

    Staying positive can be so hard when you know you have a degenerative disease like muscular dystrophy. Some days it's really hard to just get through the day. I try hard to be grateful for all the things I can still do, I'm spite of my current limitations. I'm taking this adventure one day at a time and always remembering that today is a good day to have a good day.

    #StayPositive #MuscularDystrophy

    GAMUT Seal of Approval Identifies Adaptive Clothing for People With Disabilities

    The date was March 24, 2022. I happened to be watching “The View” on ABC when Mindy Scheier, the founder of GAMUT Management, was being interviewed with her son, Oliver. GAMUT is the leading consulting and talent company with and for people with disabilities. My daughter Yassy happened to be off work that day, so I called her in to watch. She was captivated by Mindy and Oliver’s interview. Yassy was quiet, but her interest was clear. When a fashion show came on the screen showing GAMUT models, who all had disabilities, Yassy’s interest turned to joy and excitement. Yassy is 22 and has Down syndrome and autism. She is also one of the over 800 actors/models on GAMUT’s roster. She is fairly new to this acting/modeling world so seeing this was new for her. I told her that maybe one day she can model in a show like that, something she already was seeing and noting for herself. Representation matters, more than most people realize. Fast forward to this summer when GAMUT made an announcement to its talent community. It stated that a new GAMUT Seal of Approval ™ will be launched later this year and asked its talent roster to send in very short videos stating what that seal means to them. The video was released July 26th, the anniversary of the creation of the ADA. Yassy was on board immediately, as were many others. As a parent who knows that we have to step up to help create the world we want for our children, I have tremendous admiration for leaders like Mindy who take one need and not only solve it, they change the world for more than their immediate concerns. Mindy started Runway of Dreams, and later GAMUT Management when her 8-year-old son Oliver wanted to wear jeans to school. Oliver has muscular dystrophy and no jeans would fit over his braces. He also needed pants without buttons and zippers. Being a fashion designer, Mindy decided right then and there to not only solve that immediate problem, but to make fashion more accessible for all. Oliver is now a very fashion-forward 17, and GAMUT is growing leaps and bounds, just like he is. It was an honor to recently speak with Mindy and her amazing team at GAMUT about this new Seal of Approval. GAMUT Management was organically born when many designers, companies, and interested parties wanted to learn more about how to responsibly be more inclusive for people with disabilities after discovering Runway of Dreams. They were reaching out to Mindy Scheier and her team at Runway of Dreams, which is a non-profit foundation. A for-profit company was created, GAMUT Management, providing consulting and talent management. Now the third arm of GAMUT, accreditation, is being finalized. This crucial piece is the GAMUT Seal of Approval.™ For consumers who are in the marketplace for adaptive products, either for themselves or those they care for: this Seal means the product has been vetted by people with disabilities, caregivers, experts, and professionals in the community. GAMUT’s diverse and very talented team is making sure that proper criteria are developed for this seal. The team consists of core members: Mindy Scheier, CEO, Molly Kettle, COO, Jonathan Kaufman, Chief Strategy Officer who also happens to have a disability, and Kerri McBee-Black, Chief Research Officer. They also have an independent group of evaluators that will be fluid. Integrity is very important to GAMUT and the seal, thus the need for the evaluators to be independent of GAMUT. This group includes people with disabilities, occupational therapists, physical therapists, researchers, designers, product experts, and others. The goal is to have the actual seal officially launched and featured by companies by the end of 2022. GAMUT cannot reveal most of the companies currently trying to get the seal for confidentiality purposes. However, they are proud to announce that adidas Accessories (hats, bags, socks, men’s underwear) is on board to earn the seal. GAMUT’s list of corporate clients to date includes companies like Victoria’s Secret, Target, LVMH, Tommy Hilfiger Adaptive, and Kohl’s among others. Part of Gamut’s mission states: “GAMUT is rebranding the way people with disabilities are viewed, marketed to, and represented in pop culture.” While all of this is true, I want to add a crucial point. Every time GAMUT interacts with a brand, designer, or corporation they are opening the company’s eyes as employers. Gently, with genuine interactions and relationships, companies start to see themselves as employers who can employ more people with disabilities. They look at themselves and start to take a corporate inventory of how they can become more inclusive and accommodating to all disabilities. This is not something GAMUT is formally tasked to do, it is something that is part of their core beliefs and culture, that spreads to those they work with. Organically. Sustainably. Look at that list of corporate partners above again, and then picture the truly large impact this is having knowing there are other companies not listed, and so many more to come. On March 24, 2022, 17-year-old Oliver Scheier said these profound words in his interview with “The View.” “It boggles my mind every day that such an insignificant ask (the jeans he wanted to wear when he was 8) can turn into something so world-changing. It’s unprecedented.” He then praised his mother who he loves very much. That ask and world-changing movement for adaptive clothing now will include a mark of quality to reassure everyday people like you and me that a stringent set of requirements for creating adaptive products has been met. Kudos to GAMUT Management! Look for the logo in this article in stores near you soon, and support those truly inclusive companies!

    Community Voices
    Community Voices

    Superstar Heroes

    Giving birth to my son was such an emotional moment like all births. Being told shortly after that he has a genetic syndrome just by his appearance was even more emotional for me. A few months have passed, multiple specialist later the results were in. My son who we call Aj had a full whole genome sequence study on his DNA and it came back with no real answer. The changes that were found in his DNA had little to no evidence to support them and that made his condition a #RareDisease . I mean extremely rare! As the years came and went Aj was diagnosed with plenty of other medical disabilities. Some were more challenging than others but here are just a few to name; ADHD, Autism, #Microcephaly and more. As a mom I wanted to educate myself as much as possible so that I can help Aj get the best treatments, therapies and at home care I could. I also wanted Aj himself to understand that he had several disabilities. I encouraged Aj to strive like any other child and that his disabilities were limiting him in some areas but if he poured his heart into anything that his outcome would be limitless. I went to the library, book stores and online book shopping trying to find stories that were relatable and could help me explain Aj’s medical conditions without boring him. That was really hard I couldn’t find books that shared more than one condition at a time. So I wrote one! As fist time Author I became intrigued about helping parents, educators, physicians explain disabilities and life in general of a special needs child. I started with a series titled “Superstar Heroes” Aj goes to camp is the first book in the series I have self published this book in both English and Spanish. It is available on retail online book platforms. I have taken the negative and turned it into my positive story . I continue to educate myself, others, Advocate for children with special needs and also Interpret for Spanish speaking individuals so that they can better understand their conditions. Aj goes to camp features 6 diverse children, 6 disabilities with a common goal of inclusion. The six disabilities are Autism, #CerebralPalsy , #DownSyndrome , #HearingLoss /Deaf, #MuscularDystrophy , #RareDisease featuring Aj. All kids have the Cape-Abilities to be the greatest! Support us, spread the word and become a S.W.A.N kid too.

    Community Voices

    I’m new here!

    Hi, my name is Warren. I'm here because

    of my condition of Becker MuscularDystrophy. I want to advocate for myself and all disabled individuals. As a disabled community I find we are miss understood and treated less than. I have had an amazing life but it has been filled with challenges and so many barriers. I have been married 25 years with two adult children now. I have always lived my life to the fullest.

    1 person is talking about this
    Community Voices

    Creepy crawlies under your skin??

    <p>Creepy crawlies under your skin??</p>
    23 people are talking about this
    Community Voices
    Community Voices

    This is for the worthy girls & boys.

    <p>This is for the worthy girls & boys.</p>
    1 person is talking about this
    Community Voices

    Myopathic Eds?

    I have an unknown genetic variant on genes COL9A1 (autosomal dominant multiple epiphyseal dysplasia and recessive stickler syndrome) and COL12A1 (affecting myopathic eds, Bethlehem myopathy, and Ullrich congenital muscular dystrophy) i understand if it sounds like interpreting my genetic test results but i wanna lay the other possibilities out, as i’m very confused and want guidance.
    i read online it’s the rarest form of EDS discovered and named around 2016 and only 11 people known to have myopathic form. i have several hypermobile markers but surprisingly no facial, retinal, or hearing abnormalities and wonder if that means that it is eds and not the other congenital conditions.
    Online it states myopathic eds improves with time, is that with an onset of symptoms at birth, childhood, or adulthood? i struggle with a wide range of connective tissue disorder related symptoms but mostly POTS extreme fatigue weakness and spinal instability, chronic degenerative disc as well. im only 19 and this started at 11 but the last 12 months let alone 4, have me terrified scared and worried every second of the day with the strange symptoms and feeling extremely alone in this battle with numerous specialists saying im fine or it’s psychosomatic.
    Does anyone have any ideas or insight about what apparently is super rare form but i have questions about my own strange experiences.
    Looking into getting seen at www.ehlers-danlos.com/eds-center-for-research-clinical-care
    (baltimore, MD)

    Raymond_Huml

    Our Family’s Odyssey With Facioscapulohumeral Muscular Dystrophy FSHD

    When my wife Leslie and I decided to have children, we knew that becoming parents would change our lives forever. We felt prepared to put our energy into raising them and making sure that they had access to everything they needed to achieve their dreams. When both of our children were diagnosed with facioscapulohumeral muscular dystrophy (FHSD), a rare and progressive disease for which there are currently no approved treatments, our determination to help them find success and happiness grew even stronger. Upon reflecting on our family’s journey with FSHD, Leslie and I agree that hindsight is 20/20. Our daughter Meredith seemed physically healthy as a baby, but we remember noticing “quirks” that we now know can be attributed to FSHD. Her eyes would not close when she went to sleep, and she began attending speech therapy when she started kindergarten. She loved dancing and seemed to be improving until she was 12 years old. All of the sudden, she started slowing down and had to work harder to keep up with her peers. We decided to search for answers, beginning a long journey that brought us to specialists at top hospitals in our area including Duke University, the University of North Carolina, and Wake Forest University. After more than a year, she finally received the proper diagnosis. When our son Jonathan began exhibiting symptoms as an adolescent, we knew he was also living with FSHD. He was officially diagnosed before his 13th birthday. After Meredith’s diagnosis, we learned that FSHD is one of the most common forms of muscular dystrophy. It is characterized by skeletal muscle loss that usually begins in the face, shoulders, arms, and trunk but can eventually progress and cause weakness in the lower body as well. Many people with FSHD lose arm strength and range of motion in their shoulders, making it difficult to perform simple daily tasks, including brushing one’s hair, getting dressed, retrieving items from cabinets, and lifting objects. Some lose mobility and eventually progress to wheelchairs. Chronic pain and fatigue are also common effects of FSHD’s progression. While symptoms typically develop during patients’ late teens or early adult years, the disease also has an infantile form. After worsening scoliosis led Jonathan to undergo back surgery to stabilize his spine as a teenager, he lost his ability to walk and began using a motorized wheelchair. Meredith was in her mid-20s when she started using one regularly. After overcoming the initial wave of grief that came with Meredith and Jonathan’s diagnoses, Leslie and I began working to become experts in FSHD and advocates for our children. My career in drug development became focused specifically on rare diseases because of my unique understanding of the urgent need for treatment options for these patients. After benefitting greatly from the resources and expertise provided by the FSHD Society, Meredith and I decided to begin the North Carolina Chapter of the organization so we could network with others in our area. We have published multiple papers on FSHD and rare disease-related topics in The Journal for Clinical Studies and The Journal of Therapeutic Innovation & Regulatory Science. Meredith, Jonathan and I most recently contributed to two books published by Springer Publishing titled “Muscular Dystrophy: A Concise Guide” and “Rare Disease Drug Development: Clinical, Scientific, Patient & Caregiver Perspectives.” We are donating the proceeds from both books to the FSHD Society. There is no doubt that FSHD has turned our lives upside down, but it’s important to note that some of the changes it has made in our lives are positive ones. We have learned about the importance of having hope during challenges both large and small. We also feel blessed to have the opportunity to use our strengths and experiences to help others in similar situations. I am confident that sharing our family’s experiences will one day lead to effective and accessible treatment options that slow or stop the progression of the disease for members of the FSHD patient community. To learn more about FSHD and access support resources, visit the FSHD Society.