MDA Ambassador Guest Blog: How Genetic Testing Helped Us Feel Empowered

Jessica and Mark Lennox live in Jupiter, Florida with their two sons, four-year-old William, and two-year-old old Paul. Mark is a US Army veteran and works in renewable energy. Jess, originally from Maryland, is a full-time Mom. At 3 months of age, William was diagnosed with spinal muscular atrophy with lower extremity predominance (SMA-LED2). Will attends a preschool focused on rehabilitation, called RCCA, where he has made amazing friends and learns new things daily from his wonderful teachers. He is very musical and loves numbers and letters. His favorite role in life so far is being big brother to “baby Paul / big boy / the cute monster”.

Will in the Florida Keys with his baby brother, Paul, aka “baby Paul / Big Boy / cute monster”

We have discovered that, for us, learning who our little ones are is 95% exciting, exhilarating, and full of light and openness. The other 5% is heart wrenching, stressful, and to put it plainly…scary. I will never forget the day we found out that parenthood as we thought we would know it would be entirely different – when we discovered that like life, parenthood is entirely unpredictable. I walked out of my 20-week anatomy scan to my husband who was waiting in our car (it was the pandemic) with tears in my eyes, barely able to keep it together. The doctor had just relayed the news that Will’s legs were hyperextended with little movement, and she couldn’t get a good look at his feet. We didn’t know what this meant, but from the look in her eyes I could tell she was concerned. Time stood still in this moment, not knowing where this could lead.

It took 6 long weeks for our OB team to research and find a potential diagnosis of Arthrogryposis Multiplex Congenita (AMC), a term used for people presenting multiple joint contractures. I remember rushing home and researching questions: would he ever walk, what other symptoms come with this, what do kids look like, will this give him higher chances of being bullied? How can we raise him to be strong and happy? These questions break my heart to think about now, but it’s the unwavering truth of my biggest fears at that moment. After a few weeks of allowing ourselves to feel the grief and fear, something changed. I felt something shift in my perception at my maternity photoshoot. I distinctly remember placing my hand over my pregnant belly and saying to Will “whatever happens, we got this – we are strong, and we will do this together.”

Will at age 2 on his “set go!”, his primary source of transportation at home until he got accustomed to his wheelchair.

When William was born on December 15, 2020, with the confirmed diagnosis of AMC alongside a vertical talus foot deformity, we put that resolution and strength to work immediately. His femur broke before we left the hospital, at 3 weeks he started progressive casting for his feet, he had surgery at 2 months, another surgery at 5 months, started wearing boots with a bar that links the boots together and holds his feet in position (referred to as the Ponsetti method), 3rd surgery at 7 months, then a helmet at 9 months.

Through it all, Will showed incredible resilience and positivity.  Will was curious, happy, and full of smiles, but most of all, he was “Chill Will.” He was never happier than when he could sit and flip through his ABC and number cards.  He never really complained despite his circumstances. His playfulness and love were our guiding light.

At a couple months old, his team at The Paley Institute recommended we complete genetic testing, and we quickly agreed. Through the genetic testing we found that Will has a de novo (new) gene change in his BICD2 gene. Changes in the BICD2 gene are associated with two diagnoses: lower extremity-predominant spinal muscular atrophy type 2A (SMALED2A) and lower extremity-predominant spinal muscular atrophy type 2B (SMALED2B). Will presents several features from both of these diagnoses, with his main symptom being low muscle tone in his lower extremities.

It turned out that genetic testing was one of the best medical decisions we’ve made as parents. We have more certainty about his future, and it has helped us focus on his treatment now. I would be lying if I didn’t say that we had a heavy hope of him just getting up and walking one day, but knowing his exact underlying cause has helped us better support him. Instead of forcing what is typical for kids his age, we are more willing to let Will show us how he is going to grow and move through the world. At age 3, Will got his first wheelchair and quickly (very quickly) adapted to it. It is now his main mode of transportation. We have learned that, like all kids becoming spatially aware of their body, Will has an extra extension and has automatically included his wheelchair into his spacial awareness. It is beautiful to see.

At the time of testing in 2021, reports of gene changes in the BICD2 gene were very new with limited information. There is still some mystery into what Williams’ clinical picture will turn out to be, but it feels good to know what is causing his current picture. Though there are still emotional ups and downs, we have truly embraced SMALED2 with love and light, just like every other aspect of William. We have learned that perspective is everything. We have also learned to give ourselves space to grieve the hard moments and to celebrate the great.

Will on his 4th birthday! Circling the Christmas Tree at Reagan National Airport.

Will is now 4 years old and is an absolute ray of sunshine.  He has a wonderful sense of humor and loves to keep everyone laughing with jokes and tickling.  His favorite wheelchair tricks are doing donuts and wheelies. He is caring and nurturing to his younger brother (most of the time!). He knows he is different from other kids – and sometimes struggles with how that leaves him out – but it doesn’t stop him from loving and celebrating himself or others.

Although Will’s story is different it is also a story that is exciting, exhilarating, and full of light and openness.