From SMA to BWS: Clara’s Diagnosis Was Unexpected

We had no reason to doubt that our third baby, Jeffrey, would be healthy. Our other children, Matthew and Katie, were in good health, and any known “premature” deaths in our families were attributed to miscarriage.

And then SMA entered the picture. We said hello and goodbye to our sweet surprise in less than six months.

Fast-forward to our learning that Matthew and our “bonus” daughter, Jill, were turning us into grandparents at the end of 2015. My husband, Randy, and I took our new titles seriously and plunged into multiple baby projects.

As the baby news hoopla simmered a bit, the idea of carrier testing for SMA arose. I didn’t fear that SMA would be an issue. Still, mentioning the testing so that the doctors would be prepared “just in case” seemed responsible.

One thing after another came up, however, and while a few conversations throughout the pregnancy included a blip or two about testing, the big day arrived without it. After an uneventful pregnancy, baby Clara’s dramatic entrance coincided with the sunrise. She had 10 fingers, 10 toes, and a powerful cry. She was perfectly beautiful!

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I thanked God faithfully in appreciation for Clara’s robust lungs and kicks. Her difficulty latching on for nursing was remedied with a nipple shield. After two months (the age at which Jeffrey was diagnosed), I felt myself relaxing slightly until Clara reached 5 1/2 months — the age at which Jeffrey donned his wings. Despite not consciously worrying about SMA, I was relieved when she reached that point. We were surely in the clear.

Alas, God tends to shake things up when we least expect it. Immediately after Clara’s birth, Jill commented that her left foot was larger than her right, but I was too starry-eyed for it to register. Just over nine months later, Matthew and Jill noticed that Clara’s left leg and foot were chunkier than their right counterparts. It wasn’t obvious to the casual eye or apparently to this doting grandma’s eyes, either, even with frequent diaper changes. We were too busy chatting and giggling.

Thanks to instant access to information on the internet, it didn’t take long for Matthew and Jill to track down an explanation. It was one that is even rarer than SMA: Beckwith-Wiedemann syndrome or BWS. I tried to focus as Jill read aloud about hemihyperplasia (previously known as hemihypertrophy), which causes one side of the body to overgrow. The condition carries an increased risk of childhood cancer, particularly of the liver and kidneys. She continued reading about the necessity of regular consultations with a pediatric oncologist and orthopedist.

In a daze, I searched for some optimism. I may have suggested to Matthew and Jill that they stop researching online, attempting to defuse the potential whopper of an assignment. Another one.

Clara’s pediatrician referred her to St. Jude Children’s Research Hospital because of elevated alpha-fetoprotein (AFP). She underwent genetic testing immediately, but even before the results came back, the checkups began: AFP every six weeks to monitor for liver tumors, abdominal ultrasound scans every three months to monitor for tumors in her other organs, and periodic orthopedic consultations for measurement checks.

Scoot over, SMA. Make room for BWS.

The priority of our prayers shifted: for the travels to and from St. Jude to be safe, for Clara to tolerate the myriad medical procedures, and for the results to be favorable. One blessing was learning that this “isolated” version would likely not affect any of Matthew and Jill’s future children.

Connecting to other SMA families after Jeffrey’s diagnosis had been extremely beneficial, so I joined the BWS Facebook group. I scoured the member list of several thousand, searching for families who might strengthen our support system. I found a few members with whom I shared a mutual friend or two from the SMA community.

Clara turns 4 in a few months. At that age, her risk for liver cancer drops to that of the general population, and the AFP tests end. The abdominal scans continue until she’s 8, when kidney and other organ cancers are no longer an increased threat. Clara will have orthopedic consultations until it’s determined that the hemihyperplasia won’t significantly affect her leg length.

As with SMA, BWS does not affect cognition. Clara is bright and highly entertaining!

One of Clara’s doctors commented that if there had to be a serious disease, BWS was an ideal one — at least for Clara. Although her recent tonsillectomy and adenoidectomy unearthed excessive tissue, she has a relatively mild case, and the devastating threat of cancer with BWS is temporary.

Temporary.

Zolgensma (AVXS-101), the miraculous new gene replacement therapy for SMA, fends off symptoms if given early enough. As it is made available to every diagnosed newborn, SMA may one day be the “ideal” disease to have.

Imagine.

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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 Services, and are intended to spark discussion about issues pertaining to spinal muscular atrophy.