When the Support After Your Child's Rare Disease Diagnosis Dwindles

The transition from “newly diagnosed” to “seasoned veteran” seemed to happen about a year after my son was diagnosed with spinal muscular atrophy, type 1 (SMA). It was when the dust settled and I found our new normal. A schedule of home nursing hours, tracheotomy changes, therapies and appointments filled my calendar. The life I could have never imagined became my mundane everyday.

The overflow of support we had in the beginning seems to have dwindled. People come out of the woodwork when something tragic happens. A terminal diagnosis calls for everyone you ever knew to send their well-wishes to your family. But when your life turns out to not be so “tragic,” when it’s just “different,” people go back to their own lives.

Our life is not tragic. It’s just different.

We know what to expect as my son’s neuromuscular disease progresses. The wave of disbelief is gone, and we live in the reality of SMA and all it comes with. It’s lonely. No one really understands raising a medically fragile child unless they have done so themselves. The online community is great but physically so spread out that I’ll likely never meet those I wish to be close with. My confidants end up being people who are employed at my house. Even then, there is a level of professionalism that has to be maintained, preventing a full-on friendship to form.

Being a caregiver has certainly changed the way I view the world — an unexpected gift. It has given me a sense of the big picture. There is no longer time to waste. It’s like I stepped into a new realm of life that has given me the experience, wisdom and maturity of someone much older than my 25-year-old self. I much prefer this version of myself, despite the pain I had to endure to get here.

But sometimes I wish I could just be a “normal” 25-year-old mom of two. I imagine going to birthday parties and play dates without unwanted attention to the ventilator beeps and the loud rumble of the suction machine that clears my son’s airway. We wouldn’t turn heads or stop anyone in their tracks as I haul a fully-stocked intensive care unit on wheels and medical stroller while wrangling my 4-year-old to go grocery shopping.

This is our reality, though. Sometimes I don’t want to get out of bed. But I do because my son can’t. He relies on me for everything. It’s tiring and lonely. But every morning he uses all the might he has to manipulate the atrophying muscles in his face to gift me with a smile. His smile is much more than a typical smile. I see it as a symbol of all the obstacles he has overcome in his short 2-years-and-counting.

It reminds me that this rare disease journey is not a sprint but a marathon — a marathon that will go on for the rest of my life, as I learn to cope with the fact that my story has been and will continue to be written much different than I ever expected.

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