The unfamiliar road: A mom's journey with a kiddo with a rare disease

By Nicole Boucher

Imagine walking down a familiar road home. You know this road so well; you’ve dressed in proper footwear and appropriate clothing, smiling and sharing pleasantries as you pass familiar faces. You feel safe and calm and know where you’re going.

Now imagine your route is closed, you have to take a new way, an unfamiliar way, a road you’ve never taken before. It is a road that is unpaved and difficult to navigate, without another person in sight. It is a longer route, much more challenging than any you’ve taken before. You are unprepared, you are alone, and you don’t know how you will make it home.

This new road, while unfamiliar to so many, is a road that many mothers like myself have had to learn to navigate as we make our way “home.” This is the journey of RARE, and I welcome you to take a little stroll with me.

How it began

When my journey “home” began, I walked that familiar road like many first-time moms, thrilled to be pregnant, dreaming and planning what our future would hold for our little baby boy. Those dreams and excitements would come to an immediate halt and be replaced with feelings of fear and sadness following my 18-week scan where I learned the familiar route to motherhood was closed, and I was now forced onto a detour—a new, unknown path. 

Not only was I going to become a mother; I was now going to be a parent of a child with special needs.

The second leg

A challenging birth and a slew of medical complexities led to the immediate realization that this new pathway would include much more than special needs. So began the second leg of our journey—one which would include spending Jacob’s first year (and much more over the next seven years) at SickKids Hospital, surviving (sometimes barely), and then thriving as I learned to navigate the road to RARE.
 
Rare. An outlier. Someone who doesn’t fit into any category/subcategory. Diagnosed with a previously undocumented single-gene variant, in addition to the many other rare diagnoses he’s collected over the years, Jacob would go on to become one of many medically complex children searching for answers in a world of unknowns.

Over the course of seven years, Jacob has collected five rare diagnoses, spent countless weeks and months in hospital, coded more times than I care to remember, underwent numerous life-saving procedures and surgeries, and travelled abroad for even more procedures and answers to the puzzle that is “rare.”

During this time, I have become a mother trying to keep my footing on a tumultuous new journey. I am the mother who walks around with a large binder filled with what little information and test results we do have to educate and advocate when meeting new medical staff, therapists and educators. My spare time is now spent researching, poring through medical journals, special-needs blogs and parent support groups hoping and praying to find the answers his medial team has yet to find. I am the mother who dreads filling out information sheets asking for my child’s underlying condition and the questions that ultimately follow when I cannot give a name. I am the mother who was forced to become a researcher, data collector, nurse, respiratory therapist, and advocate to keep my child alive, surviving…and thriving.

The new route home

Stumbling along this new route “home,” we eventually make it, all of us, a little battered and bruised but smiling and full of love. It’s a funny world you enter when you enter the House of Rare. I quickly learned that this life is not for everyone, as people in your life come and go, plans and dreams for the future morph into just surviving each day. Having a child with a rare diagnosis makes navigating everything from the medical world to the world of education that much more challenging. However, there is something magical about being rare, where not having the answers provides you with the most amazing opportunity to see and experience life in a whole new way. As a mother I’ve learned to celebrate every inchstone, never knowing when or if we will meet a milestone. I’ve learned how fragile life is and the importance of truly living in the moment. I’ve come to understand the importance of advocating, and when it comes to the medical world, the pivotal role precision child health care plays in not only providing answers for my rare superhero but in sustaining his life.
 
RAC-1 mutation (only documented case), Dandy Walker-like Malformation (1 per 25,000), Lennox Gastaut Syndrome (.1-.28 per 100,000), Lymphatic Anomalies: Protein Losing Enteropathy & Plastic Bronchitis (1 per 4,000), CYP3A4 Mutation (only documented case): Each rare on their own, even more rare together. This is my journey, my re-routed pathway home, where I get to raise an amazing superhero and his two little sidekicks. I may not hold the map for others, but I definitely hold the brochure for this journey—sharing our story as a way of bringing awareness and advocating for more research. After all, it turns out the detour route is not as lonely as you may think it is.