Winslow Family

Family Story Winslow

I left the Doctor’s room with a packet of flu meds for Jason and an unexpected post it sticker handed to me by the GP that read Duchenne Muscular Dystrophy. The Doctor recommended I go home and research it because he was concerned about Jason’s waddle, delayed speech, huge calves and the fact that Jason couldn’t squat at age 6. Driving home Jason and I chatted about the day and how his meds would help take his cold away. I didn’t give too much thought to the post it sticker in my handbag and thought I would call my husband about it when I get home. You know how it goes rushing home, unpacking the car, giving Jason his dose of flu meds, getting the dinner started. I called Brohnsonn to update him about the Doctor and that he also gave us a name of something we should research. I had never heard of Duchenne and I even struggled to pronounce it over the phone. All along still thinking perhaps Duchenne is the name of a therapy for his late milestones not knowing it was the cause of his late development. The look on Brohnsonn’s face when he arrived home. He had gone onto the internet and googled Duchenne. He passed the iPad to me and and I started reading about the diagnosis and thinking but surely this cannot be correct? According to the medical information Jason possibly could have a rare muscle wasting disease that affects of all his skeletal muscles, heart and lungs. That he will probably end up in a wheelchair around age 11 or 12. The biggest horror of all was no cure and that the lifespan of a boy with Duchenne is early teens late twenties. I don’t remember much of the evening after that other than thinking we need to get on a plane to South Africa as soon as possible to rule this out and show that Doctor that he is off track and that Jason couldn’t possibly have Duchenne. Seychelles would not be able to assist with the testing other than a CK test which came back around 13 000. A normal CK reading should not be in the thousands, that’s when the fear and worry set in. We found the contact details of a Professor of Neurology in Johannesburg South Africa who had experience with Muscular Dystrophy and of the type Duchenne. He together with his team examined Jason making him walk down the corridor. Examined his large calves. Noticed the delayed speech. Asked him to get up from the floor, at the time was the Gower’s sign. All the traits associated with Duchenne were there but sadly and annoyingly never picked up by Specialists at the Early Childhood Intervention center in the Seychelles. Misdiagnosis of Duchenne sadly happens in many countries and is mostly diagnosed as late development. The Professor requested genetic testing be done and the negative result we prayed for was replaced with Positive. Positive for Duchenne Muscular Dystrophy. A Deletion of Exons 48-52. I will leave you to imagine the thoughts and emotions receiving this devastating news if this were your child. It’s not even possible to put it into words. 25th July 2013 was our Dreaded Duchenne Diagnosis Day. A day that has forever changed our lives and our future. A future that is filled with Uncertainty, Concern, Fear and Worry but also with Faith, which I have to be honest questioned for quite sometime after diagnosis. I have to thank my Mother for helping me believe in prayer again, no matter how difficult the situation is she believes in the power of prayer. It’s also a future filled with Love, Hope, Patience, Compassion and that is held together by Love and Support from our Family, Friends and followers from all over the Globe and for that we are Grateful, it gives us the strength to see this Journey with Duchenne through one day at a time

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