DAILY LIVING & MOBILITY

A Little Superhero with Big Superpowers!

Rare Disease & Syndrome

Nicole Boucher

I may be small, but I am mighty. I'm out to show the world that different is beautiful.

My name is Jacob and I am a determined, feisty, happy 1 year old who loves to laugh. My mom says I'm a superhero. Before I was born, doctors found a cyst in the back of my brain. This cyst caused my brain to form differently. When I was born I had difficulty breathing and had to be rushed to SickKids hospital in Toronto. I spent a couple of weeks in the NICU, then a couple of weeks in the general paediatric floor while the doctors and nurses worked on feeding so I could go home.

Home...but not for long...

One night while at home I stopped breathing and had to be taken by ambulance to Sickkids. This started a very long health journey- which resulted in me spending many, many months in the hospital, in and out of PICU. During this time genetic testing found a mutation in a single part of a single gene that there is currently no literature nor documented cases. This was denovo- which means neither of my parents are a carrier. The doctors are not sure if this mutation is responsible for the severe, life threatening apneic spells that I have. These severe apneas caused me to be intubated many times and confined to a crib in the PICU. My mom and dad had some scary moments but I used my superhero powers during these frightening episodes and made it through!

What they found...

The doctors also found that I had something called tracheomalacia (my trachea is very weak and collapses on itself when I get upset). I had to have 3 surgeries to help open my trachea. The malacia has caused me to have severe reflux which also makes it difficult for me to eat large amounts of food. My parents had to have many conversations with doctors who wanted to give me a trach and vent but they knew that I was a superhero and that I could get over this. And....So far, so good! In addition to dealing with the malacia, I had numerous EEGs which showed subclinical seizures. These are seizures that happen in my brain but cannot be seen by looking at me. We still aren't sure what impact these have on my development, but the doctors were and still are always amazed at how despite all of these difficulties I continue to develop.

Where I use my Superpowers...

Another difficulty for me is that I have very low muscle tone and am delayed developmentally. I choose to never let any of this define me or what I am able to do. I continue to surprise everyone- developing mentally, socially, physically beyond what the doctors thought I would be able to do. I can now sit on my own, love to be in crawl position and jumping in my jolly jumper. I am now eating fully orally (although i still have the gtube for those days I struggle to eat). I don't have any words yet, but I have found new ways to communicate- I take my bib off when I am full, I scream when I want my moms attention, I close my eyes when I am done with an activity or need a little mental break and I give the best hugs and kisses. I can also make hard consonant sounds and vowel sounds so I should have some real words soon! Doctors suspect that I have something called Cortical Visual Impairment. I work very hard every day combining occupational therapy goals with my vision goals and am happy to report that there has been some improvement in my vision!

I am NOT a diagnosis!

I am not a diagnosis. I am a boy with an amazing head of hair and great taste in music (Beatles, Jack Johnson, Ray LaMontagne, Bon Iver, Pearl Jam to name a few). I love watching Ellen (the only show I watch) with my mom while we work on goals. I am a superhero in a little boy's body showing the world that different is beautiful. No one is sure what my future will look like but my family, friends and I celebrate and cherish every moment we have together. You can follow along on my journey through Instagram: @life_with_a_superhero

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