Isaac Josh is an eleven year old child living with late onset Pompe disease. He was diagnosed two years ago at the age of nine. Thanks to the vigilance of Isaac’s pediatric doctors, he was lucky to be diagnosed at the early stage of his disease. Since May 2019, Isaac was able to benefit from an enzyme replacement therapy and has received, so far, 20 infusions in almost 10 months. Hopefully, the access to early treatment will slow the progression of the disease and lead to a practically normal life path. Although the numerous medical appointments and tests that Isaac Josh continuously has to undergo, we feel privilege to be supported by such a kindhearted and devoted medical team at the Montreal Children Hospital. In addition, Isaac certainly makes things easy for us, his parents, and copes with this journey with such a phenomenal attitude, never complaining or fuss. He has a way of making this troubling disease look like a mild affair.
Isaac is a lively, jovial, cheerful and happy child who has the ability to stand peacefully rooted in the present moment. For him, the time is not important. He is content with little and enjoys spending time with friends, his parents and siblings. He is caring, sensitive to others, empathetic and is an animal lover. He lives to play, and loves to stretch his imagination, invent and create imaginary worlds and games. He is very energetic and loves to move. He is passionate about music and dance. He appreciates details, arts and drawing. His dream is to be an architect and contribute to create and invent buildings. But until then, there are many challenges to go through, especially concerning the consolidation of school and multiple absences for medical treatments. Isaac must also compose with severe learning disabilities. However, he has the chance to be enrolled in a great school offering him the resources he needs and enabling him to learn and to experience academic success. Isaac Josh is a struggler, a believer and is courageous and won’t settle for less. As a family, we focus on one day at a time and support our warrior in his battle against this disease while continuously resting on a positive mindset.
Signs & Symptoms
When Isaac was about two years old, he was very small for his age indicating a possible growth delay. He did many blood tests over the years and results always showed high CK (creatine Kinase) levels. Also, once in a while, he would have unexplained episodes of fatigue and tiredness when he would spend a lot of energy. At the age of nine, genetic testing confirmed that he had late onset Pompe Disease.
Symptoms started at 2
Diagnosed at 9
“I want to be an architect”
Tagged: Awareness, Int’l Pompe Day, portraits