STAR child Jake smiling.


This is the English version, you find the original version below


Our son Jake is 12. We live in Manitoba, Canada.  When Jake was 6-9 months old we noticed that he was not meeting some of his milestones. At 18months when he was still not walking or pulling himself up to stand, we started seeing doctors and specialists. His brain MRI showed demyelination and a thin corpus callosum. After a urine test, a test of a tissue biopsy and genetic testing, Jake was diagnosed with Salla disease when he was almost 3 years old. We searched the internet and found very little information. 

Initially, our journey felt lonely and we grieved the loss of all the things that Jake would not do. Jake made amazing strides considering his challenges. Unfortunately, we were so focused on helping him to learn to walk, talk and do other normal things, we missed out on many of the joys he had to offer. We took lots of video and when we look back we realize we were often blind to his amazing accomplishments. It was never enough. Once we finally gave ourselves permission to grieve we started seeing the joy in life again. Our eyes were opened to how amazing our boy is, despite his challenges. He learned to walk with a walker at 4 years of age. He had to relearn to walk after a surgery to his leg when he was 8 years old. He still has difficulty keeping his balance and walking independently with each new growth spurt. He learned some sign language, a few verbal words and is now learning to communicate with an AAC device. He has some challenges with vision. 

Our major focus is to allow Jake to become the person he was meant to be. Our hope is for him to have an ordinary life rather than a disabled life. We have a 50 year literacy goal for him. Jake loves all kinds of books, including Chapter books and audiobooks. We take him on as many adventures as we possibly can. He has been in therapeutic horseback riding, Challenger baseball, cooking club and music therapy.  He has gone to summer day camp, skating in a special sled, he attended a fancy reception at the Governor General’s home, and he rides a bike that was made just for him. Jake goes camping and swimming and is in the summer reading program at the library. He attends Sunday school and a Hope Ministries drop-in program. He goes to the zoo and the museum and likes going to restaurants. His educational assistants help him prepare presentations to share with his classmates. His happiest moments are when he is swimming, wrestling and when he is among peers his own age just hanging out and feeling accepted. He loves to meet new people and shake their hands. We often think he thinks he is the town mayor.  Jake loves to tell jokes with his “talker”. He laughs when his dad jokes around with him. I believe that Jake is probably sad sometimes that his body will not do what he wants it to do and sad that he cannot fully express his needs and wants. Yet, he is a fighter and never lets it get him down for long. He is serious at times and I believe he is a deep thinker, even if he cannot express all that he is thinking. He recognizes when others are scared, sad or feeling lost and he reaches out to them. He gets embarrassed when his mother kisses him in public and gets frustrated when his parents don’t listen or just “don’t get it”. 

We are not sure if a cure for Salla disease will be found in our lifetime. We would not change a thing about our lives thus far and in our mind we have already beat Salla disease, because we do not let it stop us from experiencing all that life has to offer.  However, the sad reality is that Salla disease is progressive. We would be lying if we said that we do not want to stop the progression of the disease. Mostly, we are in denial about that aspect of the disease and refuse to think about the “what-ifs”. We cannot imagine how it will be when this disease progresses. So, even if we haven’t let Salla disease claim our joy yet, we would welcome a treatment that would prevent this disease from progressing for Jake. Even if the cure is not found within our lifetime, there may be hope for future generations and that makes it worth it. 

Aleasha, Jason and Jake

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