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Our life with Dyrk1a Syndrome Hello everyone, my name is Jennifer! I am a mother of two boys, I am a military spouse, and I am an advocate for our youngest son, Jaxson, who has Dyrk1a Syndrome. Our little warrior had a difficult first six months of life, so hard that there were times we didn’t think he would make it. He was labeled “failure to thrive” because he couldn’t gain weight, couldn’t suck or swallow, and was severely jaundice. With feeding therapy and me tracking his daily feeds, he slowly started to gain the weight. Dyrk1a Syndrome At six months of age he was no longer “failure to thrive!” I knew our struggles weren’t over yet because he was severely developmentally delayed, he couldn’t roll or sit-up like most babies at his age. At eight months old we started physical therapy and saw a geneticist see if they could find anything that would explain his global delays. Microarray came back normal, but we decided to do the WGS genetic testing to be sure. Spring 2018 we received news that we had a diagnosis—what was causing all of Jaxson’s problems! He had what they called Dyrk1a Syndrome—we were, at the time, the 167th family diagnosed. I had so many mixed emotions—happy and sad—because now we have answers but our journey has only begun. He amazes us every day, he began crawling at 11 months, walking at 17 months, and now knows a couple sign languages to communicate. He is beating the odds, he is a fighter! He shows us every single day that he CAN.

This is SPINA BIFIDA My name is Kendall (@kristen_anne_kendall) and I was born with SPINA BIFIDA (myelomeningocele L5-S1) and hydrocephalus. My mom’s body metabolizes folic acid at a faster pace than most women, leading to a deficiency that ultimately caused my conditions. My mom was advised that I’d be born with many limitations... but despite my diagnoses, my mom and I don’t consider my disability as disabling at all! Much to the surprise of multiple specialists, I have full mobility. I dance, run, play, and am performing at grade level academically. I treat every three months with a neurologist and urologist and have had multiple surgeries (4) in order to close my spine and revise my VP shunt, but nothing slows me down! I am a happy, typical 6 year-old. Never lose faith in your ability to do amazing things! #thisisspinabifida

Nothing Down about it My name is Bilal aka Uncle B. I'm 32 years old, 🙂 love listening to music and dancing. My favorite artist is Michael Jackson. I also enjoy spending time with family, I have loads of nephews and nieces, even a great niece and nephew. That's why I'm everyone'ss favorite uncle. My favorite part of the year is summer when I spend my summer holidays in sunny Morocco, sunbathing on the beach and swimming in the ocean. I'm a big foodie and my favourite dessert is a warm chocolate brownie with a scoop of vanilla ice cream- yum yum! I’ve also just recently become a YouTuber where I do fun challenges and answer fun questions. It's something I really love doing. I really hope my videos put a smile on peoples faces and shows families with Down syndrome children that Down syndrome doesn’t make you different. #downsyndromedoesntmakeyoudifferent 💙💛

My Brief Story I was born with a genetic condition called Osteogenesis Imperfecta (OI), which is most associated with brittle bones. I have broken my femur and hips over 20 times in my lifetime and I spent most of my life in the recovery process. In 2014, After my last irreversible injury on the right knee, my Dr. recommended me to start swimming. I started my first lesson in January 2015, immediately I fell in love with the water, for the first time in whole my life I felt freedom, water became my personal space. Since that moment, I swim every day. Three years after my first swimming class, I become the most competitive para-swimmer in my country and the only woman. I am part of the best 10 para-swimmer of this continent in the 50 meters butterfly and 400 meters freestyle (according to the Americas Ranking of 2018). The path to be exactly where I am, was not easy, especially in a small country which is not completely inclusive, My advice is, never let people put you down, fight for the things you want and when things are wrong, try harder. Currently, I am part of some initiatives to support inclusion in my country and increase the participation with people with disabilities in society.

A moms worst fear 2018 was by far the hardest year for my family and I. On May 20, 2018, my 9 year old (10 now) son, Cash was in a terrible accident while doing what he loves...racing his dirt bike. He went over the bars off a jump, landing on his head. My husband and I rushed to his side, when we got to him he was completely lifeless. We had no idea what was happening, what seemed like an eternity was only about a few seconds and he finally took a deep breath, laying in the dirt, completely unconscious. He was ambulanced to our local hospital, still not conscious. Doctors told us they couldnt help him at our hospital and so he needed to be life flighted to another hospital 4 hours away from home. I flew with him, never leaving my boy's side, not knowing the extent of his injury, if he was going to live or die. My husband had to drive 4 hours to be with us. When we got to the children's hospital in Kalispell, Montana, they did extensive MRI's, CT scans, xrays, and tests. The next day they finally were able to tell us the diagnosis, he sustained a stage 3 diffuse axonal brain injury. He was he was put in pediatric ICU and in a coma for 4 days. When he finally started to wake from the coma and opened his eyes, this was one of the best days of my life. You never know how much you long to see the eyes of your child open until you can't. After he was as fully awake, he started fighting every tube and device in and on his body. It was heartbreaking to watch. He spent one week in the ICU, then transferred to inpatient rehab at the hospital where he spent another 33 days learning to walk, talk, swallow, feed himself and basically do life all over again. He didn't talk for 2 weeks, his brain injury was so severe, they didn't know if he would recover, it was a matter of time to see what would get back of our little boy. Slowly, each day he started coming becoming more himself. I stayed with him the entire time. The words he spoke for the first time after the accident we're "Hi mama", I will cherish those words forever. After he was released he spent 3 months doing outpatient rehab until school started. Cash is still recovering now. He does have some pretty severe short term memory loss, which makes school tough for him, he has sleeping issues which we work through everynight. He cant be in a place with loud noises or lights, we need to minimize all stimulation for him as it causes the memory loss to be worse, headaches and nausea. His personality has changed some but he is still the lively fun little boy we have always had. I thank God everyday for saving my boy. He truly is a miracle, a champion of traumatic brain injury. Now a wife's worst fear On September 2, 2018, just 3 months after our sons injury, my husband Bill was riding his dirt bike in the mountains when he hit a stump he couldn't see, sending the bike flying over him and landing on the back of his head. We didn't know how severe his injury was until he was life-flighted to a hospital 2 hours away, where they discovered he had broken the C6 and C7 vertebrae. The doctor there said it was the worst break he had seen in 30 years and he couldn't help him so he and I were immediately put on a mercy flight to Seattle, WA Harborview Medical Center. They performed surgery and told Bill and I he would be a quadriplegic, that the spinal cord damage was so severe he would never walk again. He was diagnosed as an incomplete spinal cord injury, ASIA test level B. He spent 8 days in the neuroscience ICU, from there he was transferred to the in-patient rehab floor where he would spend another 7 weeks. I stayed out there with him the entire duration. Being 13 hours away from my daughter and recovering son was one of the hardest things ever. Luckily I have wonderful family and friends who jumped in and helped with my kids, dogs, and home while we were away. In rehab, Bill was taught to live life in a wheelchair but that wasn't good enough for him. He pushed himself to the limits daily. It started with a small foot twitch and in 7 weeks turned into being able to take a few steps with a machine helping support his weight and therapists helping advance his legs forward. After he was released from the hospital, we came back home to Montana, Bill was using a wheelchair at first and he immediately started outpatient therapy. There he moved to only using a walker to walk. He works very hard in therapy and daily life. Today he is using only a cane to walk. He still has a long road of recovery and only God knows how fully he will recover, but he has surpassed every doctor and therapist expectations of recovery! He is truly a walking miracle! Bill's hands function at this time is lagging behind his leg function but he continues to improve there too! Bill is the only money earner in our household and this put a ton of stress on our family's financial situation. I wasn't working at the time of Bill's accident because I was home to care for Cash after his accident. Now I am Bill and Cash's full-time caregiver. We also have a 12-year-old daughter who loves to help care for her dad, loves school and cheerleading! We are trying our best to keep her going in cheer so she has some normalcy in her life that was completely turned upside down. Bill is pushing himself to get back to what he was pre-accident so he can go back to work and provide for our family. We pray this will happen, God is good!

How i cope living with cmt disease Hi, my name is Elijah Armes, I'm 5 years old and in year one at school. I enjoy my life to the fullest. I love singing, dancing and playing with my toys. I especially love my Megazord. I have inherited a progressive neurological condition which causes muscle wastage from my mother, it is called CMT disease. My type of CMT is extremely rare as it comes from a genetic defect in the MORC2 gene. As CMT disease is a progressive neurological disability, it will worsen over time. At the minute, it affects my walking and balance. I fall over a lot, so I have to wear splints to help with this. I'm very lucky I can't get off the floor very well so my school has me on my own special chair. I get very tired as I have to physically work harder to achieve things and keep up with others. I use a wheelchair when I have to walk as I cannot walk far. "I may have CMT but it doesn't have me!" My type of CMT has caused me to have mild learning difficulties. I have attention deficit disorder and it took me a while to talk but I cope very well with this. I may have a physical disability but I have a very positive outlook on life. I share my disability with my mummy I love her to bits. I think she has passed on her positive attitude on to me. I never complain even though I have pain in my legs. I am always playing with my friends and join in every game. My favourite thing to do is dance. I love to dance to the song "Shake It." I always have a smile on my face. I love to make people laugh whether I'm always making a silly joke or action. I think laughter is better than sadness. I know in the future I may have to have surgery and other things performed medically to help me. But I will cope how I always do with my amazingly positive attitude. Our positive moto is "I may have CMT but it doesn't have me!!" My IG: elijahs_cmt_journey My crowd funding page: https://www.gofundme.com/elijahs-cmt-journey

Revolutionizing Mobility for Children Cub is an affordable and easily transportable wheelchair for children who need a variety of postural supports. Designed for active kids and parents. For use in rugged rural, suburban, and urban environments in tropical, rainy, or warm weather. + Lightweight. Easy to fold and stow away. + Postural support integrated to the padded seat + Rugged stroller with a simple seat or a supportive seat + Tilt back seat for comfort. Tilt forward for eating and play. + Ergonomic and highly adjustable + Expandability serves young kids and teens + Passes rigorous quality standards (ISO, FDA, CE) + Great off-road, in the tropics, and on the beach. + Cub is an excellent option for travel, hiking, and adventure. About Participant Participant serves the world’s largest minority group, people with disabilities, by making affordable assistive products. As the first medical device Benefit Corporation, we are a market-based answer to the World Health Organization's call for new, more affordable products. We are on a mission to democratize quality assistive products so that none are left behind. #inclusion4all www.participant.life

About me & #DisabilityMeansCan My name is Sarah and I am 35 years old, live in the UK & I was born with Scoliosis, which is a curve of the spine. I am short in stature for my age and I use a wheelchair when I go out because I get tired from walking. My Instagram is @sarahpetitebeauty. . I created #DisabilityMeansCan Recently I thought of #DisabilityMeansCan because some disabled people can do things independently. I have lived on my own for over 5 years, I am good at doing eye makeup looks and I recently got a job. I have a Facebook page called See the person, not just the condition/ disability. https://www.facebook.com/mescoliosisdisability My 35th birthday! It was my 35th birthday recently (14th January). Me, my mum and my sister had a nice meal at a restaurant called Est Est Est. I had a pasta dish. Yesterday I had another birthday meal with my friends, at a restaurant called The Italian Job.

Looking for love with Cerebral Palsy Dating has always been a challenging part of my life, mainly because of all of the misconceptions guys seem to have about my medical condition. I have spastic cerebral palsy and use a wheelchair, which has led me to have some unusual experiences in the dating world. Cerebral Palsy may make some everyday tasks difficult for me, but I do not allow it to stop me from living my dreams. I’m a college student working towards a degree in English literature. I have dreams and desires. And like any typical 23-year-old, I date. Dating with cerebral palsy Dating with cerebral palsy is a huge challenge. One of the biggest misconceptions that guys my age seem to have is that if you date a person with a disability, you automatically become that person's caregiver. They assume they have to take responsibility for me when the reality is that I’m a strong, independent woman who just happens to use a wheelchair. All I want is a significant other who will love me unconditionally and see past my disability. I dream of simply enjoying my time with someone without them treating me like I’m fragile or “too much.” I strongly believe that the reason why dating is so hard for people with disabilities is that society objectifies and misunderstands us. People tend to label people like me instead of seeing us for all that we are. They believe that we will never amount to anything because of our physical needs. This makes it harder for me to step out of my comfort zone and open up to guys I’m into because I’m always afraid that they’ll see me as a diagnosis instead of a person. Finding love with with cerebral palsy Fortunately, my dating story has a happy ending. A few months ago, I met a young man who has the same condition as I do. We developed a deep connection and recently started dating. I love that we understand each others’ needs and don’t pay attention to the social stigma against people with disabilities. Still, I hope that we can end misconceptions about disabilities so that other single people like me can find their “happily ever after.”

The Start of an Empire: Feeding Tube Fitness My name is Hannah Setzer. I was born with a very rare medical condition called Cystic Hygroma of the head and neck. I've had over 50 surgeries in the past 28 years. I have had a feeding tube and tracheostomy tube since I was just a few days old. The doctors told my parents I wouldn't live very long, nor would I ever talk, or be active or lead a normal successful life. I'm pretty sure I came out of the womb stubborn because none of that sounded good to me. I've defied countless medical odds and have continued to live the life I've always wanted to live. I'm now a Disability Rights Advocate at Virginia's Protection and Advocacy agency for people with disabilities and it is the best job I could ever have! I have always been active, running several half marathons over the past few years. In 2018 I decided to embark on a quest for 365 days of movement. Throughout this process I realized just how inaccessible the fitness community is for people with disabilities and medical conditions. On my own fitness journey I discovered the joys of strength training and have been loving challenging and strengthening my body like never before. I have also worked very hard to create a fully accessible fitness plan that can be done at home with no equipment. There is nothing special about the exercises I have put together, but I have written very detailed exercise descriptions, created videos, included pictures with ALT Text, and written it all at an accessible level and made it screen reader compatible. I am on a journey to build an accessible fitness empire. Growing up there was nobody that looked like me in any public scene, especially in the fitness world. Even now, every fitness clothing or equipment website I visit only serves able bodied athletes. I am on a mission to change this! I want this generation and every generation after mine to see accessible athletes, models, Congressmen and women, and more! I'd love to connect with all you incredible athletes on Yoo Can Find! You can find me on Instagram at @feedingtube.fitness and on facebook at www.facebook.com/feedingtubefitness

My health journey and story to spread awareness. My name is Ashley (@ashleys.fight) and I am from a small town in Southern Ontario. My chronic illness journey began back in 2009 with some mild symptoms such as Gastrointestinal issues, allergic reactions, and general fatigue and dizziness. I received my diagnosis of Mast Cell Disease in 2011. Mast Cell Disease causes my blood, GI system, and bone marrow to have too much histamine which essentially makes me allergic to life. My reactions to scents make going anywhere public difficult, which can be very isolating. spoonie community However, it isn’t all bad. I am so glad to be a part of the spoonie community and to have met some amazing friends. The love and support we show each other blows my mind and brings me happiness. I find beauty in things I wouldn’t even think of twice before becoming ill. I learned that people matter and people with stories like ours are strong, brave and beautiful. My goal is to inspire others and help those that live with this chronic illness life get by. Spreading awareness is key! Much love to you all!

THE PERSON THAT STANDS BY ME My boyfriend C. is 33 years old and has been my partner for 14 years now. When we first met I was only 16 years old and a "normal walking” girl. At 18 years old, I was diagnosed with Amyotrophic Lateral Sclerosis (ALS). Today I’m in a wheelchair and in care level 5. My boyfriend has been with me since the beginning of the disease. Although he knew about the upcoming course of the disease, he decided to stay with me and take care of me. He has been witnessing the increasing weakness in all stadiums for 13 years now and is constantly facing new challenges with me. He’s always looking for solutions, always by my side and my biggest and dearest helper. His help is so incredibly self-evident, seemingly effortless and so well attuned to me that sometimes I even forget my disability. With his support, I can still experience things that otherwise I could only dream of. He is patient, understanding, selfless, empathetic, kindhearted and the most helpful person I know. But C. is not only my partner. He is also my hairdresser, cook, beautician, housekeeper, shopping aid, gardener and so much more; he is my arms and legs, my buddy, my comforter, my companion – and has been that around for years, around the clock, alongside his full-time job. My partner is not only physical help but also tremendous mental support. He understands without me having to explain, he supports and motivates me. He empowers me or simply has an open ear for me when I'm not feeling well. His tireless efforts, his positive attitude and his courage to take it up with all obstacles make it a lot easier for me to remain an active and positive human being.