Finding good in our rare disease story may not be so rare

Helen Baldwin avatar

by Helen Baldwin |

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This time 27 years ago, I was entering the third trimester of an unplanned pregnancy. My husband, Randy, and I had considered our family complete with two terrific children, Matthew and Katie. God, however, placed a cherry on top of our “fab four” with a big surprise: Jeffrey.

Once we regained consciousness from the baby news, we adjusted impressively. Jeffrey was happy and so easy that the next surprise slid in almost on the sly.

Randy, concerned at Jeffrey’s birth about his abdominal breathing, asked my physician brother, Paul, for his opinion two months later. After a brief exam, Paul solemnly explained that one of Jeffrey’s lungs sounded dull, and he had no reflexes.

At that, the odd fog that had enveloped me the entire pregnancy dissipated, and my optimism over a (surely) manageable challenge grabbed the reins. Years before, I’d taught kindergarteners at Brockman School, then a self-contained setting for students with orthopedic and multiple disabling conditions. My final year, which primarily demanded skilled nursing, suddenly made sense. I felt confident that God had a plan.

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While jotting down observations that night for what was to have been Jeffrey’s routine checkup the following day, panic bullied my optimism into a corner. I remembered a bizarre thought I’d had during the pregnancy: With three children, if something happens to one, you’ll still have two.

And had our dog’s untimely death mere days before and the ensuing discussion of death and heaven served as some sort of rehearsal?

Oh, my God.

SMA: Learning, appreciating, and letting go

The well-check the following day was replaced with a pediatric neurological consultation. Memories of that fateful appointment remain both surreally sharp and mercifully murky. We learned the probable diagnosisspinal muscular atrophy (SMA) — and its deadly ramifications. I tried unsuccessfully to process the seemingly incongruous explanation that SMA, the leading genetic cause of death of children under age 2, is considered rare.

The following three months were packed. On the internet, I unearthed mostly depressing information about SMA. Thanks to what was then Families of SMA (FSMA; now Cure SMA) and other message boards, I connected with fellow SMA families. I encountered inspiration most welcomed by those newly diagnosed. Tenacity, accommodation, and unconditional love were in plentiful supply.

In what felt at times like a blink and at others a lifetime, Jeffrey snagged his wings on a starry night while perched on his pillow in my lap. Although he hadn’t been with us in the earthly sense even six months, he’d wasted no time making a profound impact.

The immense grief from losing our precious baby was mixed with profuse relief that he was safe from SMA’s death grip. Eventually, optimism and determination to realize the good from our assignment prevailed.

It was easier than you’d expect.

The blessings unleashed from being rare

The biggest blessing of our brief SMA assignment was putting into action our faith that God is in ultimate control (as opposed to us, thank goodness). We observed the efforts of our relentless prayers, ranging from the initial “Please save Jeffrey!” to “Please take him!” when the end was inevitable. This sort of blessing is difficult, if not impossible, when the proverbial waters are calm.

I’m equally grateful to have met a “sister from another mother.” Shortly after Jeffrey’s diagnosis, I saw a post on the then-FSMA message board from Cindy Schaefer, mom to Kevin Schaefer (a fellow SMA News Today columnist and the associate director of community content for BioNews, the site’s parent company). With enthusiasm bursting at the seams, she sought interest in helping form a new local chapter of FSMA.

That someone else in North Carolina (albeit three hours from us) knew about SMA provided me with a colossal emotional boost. I responded promptly that I didn’t know how I could help, because the path of our own new SMA assignment was unknown, but to count me in!

The bond between Cindy and me was like superglue: instant and durable. We exchanged emails, met in person for SMA events and otherwise, worked together at BioNews, and more. We’ve had countless discussions that left both of us howling and others that would leave most folks reeling.

I’m also particularly thankful, as part of the rare disease community, for the opportunity to have met untold other extraordinary folks over the years. When Cindy and I co-authored a blog, we discovered other families faced with daunting special assignments. Patrice Williams, one such warrior mama, is now a fellow BioNews columnist, writing about epidermolysis bullosa and her remarkable son Jonah.

The BioNews platform heightens awareness of (currently) more than 50 rare disease communities through columnists’ real-life experiences. In addition, science writers provide updates of medical advances in the “rare” world.

The blessings from Jeffrey’s brief stay flow in all directions. If I ever hear the word “rare” again with respect to a new challenge, I hope to shift my reflexive response from panic to one of acceptance and perhaps even gratitude for being handed such a unique opportunity.

Rare: an incredible journey every month.

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.

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