Being Part of the ‘Rare’ Family Brings Unforeseen Blessings

As my husband, Randy, and I slipped into our mid 40s, God plopped a little surprise into our middle-aged laps: a pregnancy.

Totally unprepared in all ways for a baby, we scrambled with preparations until we were dizzy. Our son, Matthew, who was 10 at the time, was mortified with the whole situation. Our daughter, Katie, then 7, made no attempt to contain her elation at becoming a big sister.

Randy and I gave up trying to figure out God’s plan for this bonus child. Upon Jeffrey’s arrival on May 18, 1997, we fell into some semblance of a respectable routine. Some might have presumed we actually knew what we were doing.

Eight weeks later, Randy and I learned that Jeffrey had come equipped with a surprise of his own: spinal muscular atrophy.

Like most families hit with rare diseases, we’d never heard of SMA. After the doctor explained SMA in layman’s terms, he paused briefly. I quickly mentally plotted transforming our inaccessible old farmhouse into something functional for whatever Jeffrey would need.

I thanked God for my years of teaching at Brockman, a self-contained school for students with orthopedic and multi-handicapping conditions. As many of those conditions were rare, thinking outside the box was a given. My placement at Brockman suddenly made perfect sense! I was confident we’d be fine.

Alas, my optimism was short-lived, to put it mildly. The doctor continued, informing us that Jeffrey, with a severe case of the most severe type of SMA, likely wouldn’t make it to kindergarten.

WHAT???

Before Randy and I stopped reeling from that whammy, the genetic counselor solemnly whacked the prognosis to two years.

We’d soon learn in our frantic search for a miracle that SMA, despite its classification as rare, was the leading genetic killer of children under 2.

Jeffrey didn’t make it to 6 months.

***

Our active SMA duty ended less than four months after that fateful day over 23 years ago. While grief lurks in the shadows, the blessings continue to flow, including:

• The continued comforting awe of witnessing prayer and faith in action (albeit not always how or what we think we want), made possible by having our props knocked away;
• Bonding with many fellow SMA angel families who led the way, reinforcing the importance of helping others;
• And the friendships? Oh, the friendships. Simply irreplaceable and extending way beyond SMA.

It took me a while to grasp that a rare, insidious disease and “blessings” could coexist. They sure do.

***

The last day of February is Rare Disease Day.

During our assignment with SMA, my mother commented that it wasn’t for wimps. Prior to our SMA stint, I spent several years learning the ropes for myriad diagnoses, often rare, that affected my kindergarten students. A few years ago, our granddaughter, Clara, a bright, beautiful, spunky 5-year-old, introduced us to the rare Beckwith-Wiedemann syndrome (BWS).

I don’t know that there is a rare disease for wimps.

***

Most columnists associated with SMA News Today and its parent company, Bionews, live with the rare disease about which they write. Other columnists serve primarily as family members and/or caregivers. Although I still haven’t had an opportunity to “meet” more than a handful of fellow writers, I’m duly impressed with the resolve, grit, honesty, humor, and triumph expressed in their writing, regardless of their circumstances.

To folks outside the rare disease circle, “celebrating one’s uniqueness” may cause some head-scratching. It seems to come with the territory of those forging ahead in the fog of the unknown, however. I’m perfectly satisfied with the assurance that God makes no mistakes.

Boosted by the conviction that Jeffrey is eternally free and happy, I am grateful for the chance to step into the world of “rare.” (OK, we were hurled into it.) I have come across some extraordinary folks churning out the best lemonade around. I would love to have seen Jeffrey reap the rewards of Zolgensma, the miraculous SMA treatment available for newborns. I often ponder what exceptional role models could have inspired him to accomplish things, and I imagine he would be a fine role model himself. But that wasn’t in The Plan.

I believe our initial “after Jeffrey” assignment was to somehow ease the journeys of other families faced with an SMA type 1 diagnosis and a crushing prognosis. With the currently available SMA treatments resulting in mind-boggling success stories, I imagine anything I offered years ago is pretty moot now.

What a relief.

***

Two rare diseases, SMA and BWS, have graced our family. Despite some heartache, there is gratitude for so much. Clara is currently monitored regularly at St. Jude. At her last appointment, she matter-of-factly informed the orthopedic doctor checking her mild hemihypertrophy that “that’s just how I was made.”

I am genuinely blessed by being a part of the phenomenal “rare” community.

Rare. I would never have volunteered for a membership in this club, but I wouldn’t have it any other way.

***

Note: SMA News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of SMA News Today, or its parent company, Bionews, and are intended to spark discussion about issues pertaining to spinal muscular atrophy.