Child Spotlight: Olivier

 

1. Please introduce your child and list the name of their diagnosis

Hello my name is Karine and the proud of mama of Olivier.

Olivier is 9 months old and was diagnosed with a rare genetic disorder called Prader Willi Syndrome. We received his diagnosis when he was 2 weeks old, August 21, 2020. We will always remember. The genetic doctor called us in the morning and said that it wasn’t Praderwilli and they will continue the investigation. I was still tired and in pain from the delivery but that news gave me strength. We were so happy and relieved. Five minutes later, she called back and said she didn’t read the report correctly, Olivier had Praderwilli. I felt like I was in a rollercoaster that just crashed.

PraderWilli (PWS) happens when the chromosomes 15 from the father is either partially deleted or unexpressed. It causes a dysfunction in their hypothalamus which play a crucial in regulating many bodily functions like hunger, body temperature, pain, emotion, puberty, fertility, sleep, fluid balance. (Source: pwsausa.org)

2. Tell us how this diagnosis affects Olivier and your family’s day-to-day life.

Because of PWS, Olivier was born hypotonic. He requires weekly physiotherapy, occupational therapy and osteopathy sessions. He currently has a gastronomy tube (GTUBE) so he routinely meets with a nutritionist. He requires bilevel positive airway pressure (BPAP) machines to sleep because of hypoventilation and mild apnea. Finally, We give him growth hormones 6 days a week.

Because of the early intervention and all that we do daily, Olivier is progressing beautifully. All the members of his team are constantly amazed by him.

3. What have you learned from your child and being his/her parent?

We have learned to appreciate the now more. Olivier thought us to take the scenic road instead of the highway. We still get to the destination but with a better view. We have learned and continue to learn more about disabilities and rare diseases. We realize there is so much to do in order to have a more inclusive world. Inclusiveness is always a good idea, and in His Honour we will strive to make valuable contributions through advocacy to ensure that Olivier and his friends are able to have equal opportunities in every area.

4. If you could give any advice or guidance to a fellow mom receiving a new or similar diagnosis, what would it be?

I would say to a fellow mama to find her community. Find the facebook group, find another mama who’s been there before. They are your best support. Your best advocate. Your best resources. They guided us while at the NICU, to ask the right questions. We are at the beginning of this lifelong journey and because of the support we received, it has been fairly smooth. We were reminded so often to enjoy him. Instead of been consumed with what’s next, we have been enjoying our boy. That was the best advice thus far. So many unknowns are awaiting us but we are ready to do all that we can so Olivier can thrive and live his best life.

www.fpwr.ca

www.pwsausa.org

 

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