Duchenne Muscular Dystrophy: Jason’s Story
Jason Winslow, 14, was born with Duchenne Muscular Dystrophy (DMD) a genetic condition that gradually causes the muscles to weaken, leading to an increasing level of disability. It is one of the most common and severe forms of muscular dystrophy usually affecting boys in early childhood.
Children affected by this rare disease suffer a relentless deterioration of their physical abilities. By 10 to 14 years of age, boys with Duchenne lose the ability to walk and require a wheelchair full time. They eventually become paralysed, depending on others for round-the-clock care. Those affected with Duchenne can also lose their ability to breathe independently and succumb to heart failure. Christine Winslow, Jason’s mother shares his story with Cosmocreole.
Christine, who is half Seychellois, and her husband Bronhsonn moved to Seychelles in 2001. They decided to settle there as most of Christine’s family live in Seychelles. Jason was born at the Seychelles Hospital on 13th September 2006. Following a natural birth, Jason was a perfect 2.8kg baby, and like any other parents, Christine and her husband fell in love with their little boy.
All is not well
As time went by Christine and her husband noticed that Jason was not reaching his milestones.”He wouldn’t crawl, he didn’t baby talk like other babies, his speech was very delayed, and he started walking at the age of two. He couldn’t climb stairs, and kept falling down when we did manage to get him to stand or walk a little.”
They took Jason to the Early Childhood Intervention center where they met with the doctor in charge and several therapists. Christine recalled, “We were told to encourage him to climb stairs and he attended speech therapy. Then they arranged for him to meet with a professor who specialises in autism, and was in Seychelles at the time. He diagnosed Jason with mild Asperger’s Syndrome. We were told not to worry, and that he was just developing slower than his peers.”
Cause for more worry
Life went on as normal as can be, but Jason’s condition was not improving, he was still struggling to walk. A visit to the doctor for a persistent cold would change their lives forever. “In 2013 Jason had a cold and I took him to a GP. As we were leaving the doctor’s examination room, he noticed Jason ‘waddling’ and his enlarged calves as he walked out the door. He called us back in and asked Jason to squat. I told the doctor he cannot and has not been able to. Then the doctor scribbled the word Duchenne on a post-it sticker and handed it to me. The Dr recommended we travel to South Africa to confirm the diagnosis. He told me to go home and read about it. I remember getting all excited and asked if this is going to help Jason with his milestones. Little did I know what was coming.”
Christine called her husband to tell him about the news from the doctor. He was at work and he immediately started researching Duchenne. It was her husband who broke the bad news to Christine.”Brohnsonn arrived home to tell me what he had read about the diagnosis. Fatal. No cure. Rare. Muscle wasting. Life span is the early 20s. These are the words that still haunt me. That day I felt like everything around me shut down completely—it was dark—petrifying. I looked at Jason, he was only 6, and thought; how can the doctor be so cruel? He must have got this completely wrong.”
Confirmation of the Diagnosis
Christine and her husband wanted a second opinion and a formal confirmation of the diagnosis. They took Jason to Johannesburg in South Africa where Jason met with a professor who specialises in Neuromuscular disorders. It turned out that climbing stairs should have been avoided as it breaks muscle down faster. The large calves were not muscle but scar tissue from his muscle wasting. Christine was heartbroken for her little boy. “The thought that he could have been diagnosed and started treatment earlier upset me. The genetic testing confirmed my biggest fear—Duchenne Muscular Dystrophy. We had no idea that such a diagnosis even existed. We always thought the large calves were because he will be athletic, and we believed he would catch up with his milestones and would be fine.”
Christine and her husband were devasted and bitter by the news. They were angry that this was Jason’s predicament. DMD affects mostly boys, 1 in 5000, and Christine couldn’t believe Jason’s bad luck. ” Why Jason? After a threatened miscarriage and pulling through, why him? It was so unfair and cruel. We felt lost and alone because there is no history of it in our family.”
Challenges and Making Sense of it all
Duchenne is not always inherited from a carrier mother. Approximately 70% (2 out of 3) of children born with Duchenne have inherited the genetic mutation from their mother who is a carrier. However, approximately 30% (1 out of 3) of children born with Duchenne have a genetic change that started new in them and was not inherited from their mother. This is called a spontaneous mutation. Christine was tested, and she was not a carrier so Jason’s mutation was new.
Sadly Duchenne affects all the skeletal muscles and so Jason stopped walking at age 11 and he is faced with many challenges daily. Little things that we take for granted are huge battles for Jason. “At 14, he needs assistance getting dressed and undressed. He has rails on his toilet and a bath lift to get in and out of the bath whereas other kids will just jump in the tub. He has to use a pool chair lift for his hydrotherapy. He cannot stand at all. His strength in his upper body is less and so he struggles to lift his water bottle, he uses straws to have a drink.”
“Jason’s autism and disability come with a lot of stress and has affected relationships within the family because family members don’t understand the condition, and don’t know how to respond to certain things. Despite this, Jason always smiles because I tell him miracles happen every day, and a cure will come, this keeps him going.”
All About Jason
In 2016, Christine and her family moved back to South Africa so Jason could get the best care possible. In Seychelles, the school he attended had no lift so he was unable to attend classes without having to be carried up and down the stairs which was not a sustainable option. The specialists treating him are based in South Africa, so it made sense to move there although they loved living in Seychelles.
“Jason knows he is different because he is in a wheelchair, but he has had so many adventures and has travelled a lot. He has had a happy childhood despite everything. We tell him to try anything he wants. He has zip-lined in Seychelles (strapped to his father), cycled up to 94km in a day in his race wheelchair pulled by his father. The three of us take part in such races to raise awareness for Duchenne Muscular Dystrophy.”
“Jason enjoys the ocean in his water wheels (floating wheelchair) when we visit Seychelles. Despite endless doctors’ appointments, he is very positive and happy. We chose not to tell him any more than what he needs to know for now about his diagnosis. Jason loves making people laugh and they are drawn to the positive vibes he brings to a conversation. He is the one sitting in a wheelchair but will tell other people not to be sad or not to worry as things will be okay. He is an old soul. He loves music from pop to creole. He loves to dance in his stand wheelchair and he is obsessed with drawing roads and designs of roads. Cars are his passion, and going for a drive is his ultimate favourite, especially road trips. Jason is a unique and gifted child.”
Hearing that your child has Duchenne muscular dystrophy — a genetic disease, that causes muscle function to deteriorate over time — can be devastating for parents. You wonder if your child will be able to live a normal life, and about what kind of help they will need once they can no longer walk. You wonder how long your child will be with you. Christine and her family are making sure that Jason is enjoying life the best he can taking one day at a time. Like any mother, Christine has hopes for Jason.
“My hope for Jason and all the boys affected by Duchenne is that a cure will come soon to take this awful disease away, but if that cure doesn’t come, my hope is that he will manage all the hurdles on his journey, and that Duchenne will be kind to him and that he at least maintains the strength he currently has. I hope society will learn to be kinder to the disabled. I hope Duchenne will be known like other fatal diseases because it is a life-limiting disease. My dream is that he will fulfil his wishes like driving a car, even if it is a modified vehicle. Have a partner one day who will love him just the way he is.”
There is no cure for Duchenne, currently approved treatments can only slow the progression of the disease, not stop or reverse it. Knowing the process of losing muscle function will continue, creates many practical and emotional challenges for people with Duchenne and their families. But these challenges don’t have to rule out having a fulfilling, meaningful life which is what Christine and her family are giving Jason.
Christine founded a Facebook page on Jason’s journey with Duchenne to help raise awareness about this life-limiting illness. Jason did not get an early diagnosis, so she wants to make sure that other families are aware of the disease. ” I want to help as many families as I can to understand the symptoms early and to get an early diagnosis.”
The Winslow family is also one of 6 families that has been chosen as CureDuchenne Champions because of their advocacy and raising awareness of the disease. CureDuchenne is one of the biggest foundations in the States.