SMA, Beckwith-Wiedemann syndrome, and a happy ending
Years after a 2nd rare diagnosis, a columnist breathes a sigh of relief
The first surprise our third baby, Jeffrey, delivered was his mere appearance. In 1997, my husband, Randy, and I juggled two school-age children and their respective activities, his new job, and a bustling family lodge. A baby was nowhere on the to-do list.
Surprise No. 2 was Jeffrey’s arrival two weeks early.
Surprise No. 3? To say the biggest was saved for last is a whopper of an understatement.
My physician brother, Paul, briefly examined 8-week-old Jeffrey to offer input on his abdominal breathing. He shared his findings: a dull-sounding lung and no reflexes. The following day, Randy and I found ourselves in a teaching hospital for answers.
Because we’d never heard of spinal muscular atrophy (SMA), the gut punch was incomplete until the prognosis registered: Jeffrey likely wouldn’t make it to kindergarten. Confirmation was pending the results of several harrowing tests, but the pediatric neurologist at Brenner Children’s Hospital exuded confidence in his assessment. There was no treatment, cure, or hope.
We returned home, utterly drained but determined to do our best.
It wasn’t enough. SMA’s devastation ended Jeffrey’s earthly stint before he turned 6 months old.
New grandbaby, old memories
Eighteen years after our active SMA duty ended, our other son, Matthew, and his wife, Jill, announced that a baby was on the way! Like all delirious grandparents-to-be, Randy and I jumped on myriad baby projects.
The subject of testing to see if either of them were an SMA carrier came up, but that was it. Jill declared it “wouldn’t matter,” and while I knew it’d be beneficial for the doctors to be prepared should there be a positive diagnosis at birth, I also didn’t foresee a repeat SMA appearance.
Clara arrived in late December 2015. She was beautiful and strong! Still, I watched over her for the next few weeks for subtle signs of SMA’s signature muscle weakening, just in case. I mostly prepared to whisk her to an SMA-savvy doctor and possibly even a clinical trial if needed.
As Clara approached 2 months old, the age Jeffrey had been at diagnosis, I teared up rocking her; I’d rocked Jeffrey in a stupor following Paul’s brief exam and ominous demeanor afterward. When Clara passed 5 and a half months (Jeffrey’s age at death), I teared up at the memory of the short time we had with him.
And then I took a deep breath and just enjoyed her, confident that we could all relax.
Rare diagnosis, round 2
Clara was about 9 months old when Matthew and Jill scoured the internet to see what might be causing her left leg and foot to be chunkier than her right. They connected a few dots and announced they were pretty sure they’d found the culprit. As Jill started reading aloud, I heard “increased chance of childhood cancer.” I couldn’t believe what I was hearing. It wasn’t SMA. It was Beckwith-Wiedemann syndrome (BWS), which is even rarer.
I told Jill to stop Googling; Clara surely couldn’t have a different rare disease! But she did. She immediately began the protocol for BWS at the St. Jude Children’s Research Hospital branch in Johnson City, Tennessee. It included an alpha-fetoprotein blood test every six weeks until age 4 to monitor for liver cancer, and an ultrasound every three months until age 8 to monitor for organ tumors. At that point, the risk for cancer reportedly drops to normal.
Thinking ahead to more than seven years of frequent testing, checking diligently for anything remotely suspicious, and waiting for test results was an agonizing prospect.
Celebration … and a bit of guilt
A bubbly second grader, Clara was a first-time football cheerleader this fall. She practices cheers and cartwheels at home whenever she happens upon some open space and a willing audience.
On Thursday, Dec. 21, she had her final ultrasound at St. Jude.
I’m not sure how we’ve already reached the eight-year mark. I’m in absolute awe and beyond thankful.
And as SMA families struggle with precarious hospitalizations and death, I feel a pang of guilt. Compared with the destructive progression of SMA, Beckwith-Wiedemann is almost a cakewalk. Almost. “Cancer” and “pediatric oncologist” are particularly terrifying words when they apply to your child or grandchild. Clara will continue an annual trek to St. Jude for general checkups. She’s begun orthodontic work and will undergo a procedure within the next couple of years to even the growth in her legs.
Equally terrifying, however, are the words and issues so familiar to SMA families: pneumonia, respiratory syncytial virus, spinal fusion, feeding tube, tracheostomy, progression, lack of nursing care, and more. And the SMA journey doesn’t end — not until it ends for good. There are encouraging treatments now, with more on the horizon, but they’re neither guarantees nor risk-free.
As the new year kicks in, I’m tearing up again. Our sweet Jeffrey gifted us with the opportunity to put our faith to the test and the fortitude to deal with whatever is hurled our way. I’m pretty sure that he’s been right with Clara and the rest of us, pumping his tiny fist in glee.
And that’s definitely something to cheer about.
Happy, healthy new year to us all.
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.