Guest column: Diagnosis upends young family

Published 12:00 am Wednesday, March 27, 2019

By Lauryn Singletary Smith

“Oh! That’s because she has scoliosis and she’s off balance,” I told her. “She’s always been super clumsy because her back is crooked.” We ended with me reassuring her I would encourage Caroline to re-think her shoe choices and talk to her about being more mindful walking down the hall. But, the more that I thought about it and talked to friends and family, I realized that Caroline’s issues may not be solely attributable to the scoliosis and genetic tendency towards clumsiness.

Through a long drawn out series of tests and appointments, we ended up at Children’s Hospital of Atlanta seeing a pediatric neurologist. She is the one who gave us the news that she believed that Caroline has an extremely rare genetic condition called Friedreich’s Ataxia. The diagnosis was confirmed with a genetic blood test.

At first, there is a sense of relief to know that there is a reason that she has been struggling for all of her 12 years. We could finally put the dots together to see a cause for not only her scoliosis and her heart condition, hypertrophic cardiomyopathy, but for the anxiety, depression and emotional turmoil she has always suffered with. OK, we thought, let’s face this and figure out how to get our girl well. Then, we realized that there is no “getting well” from FA.

As of today, Friedreich’s Ataxia is a progressive neuromuscular disease with no treatment options or cure available. Caroline prognosis is that she is fighting a losing battle with her body. The ataxia, or gait disturbance, will continue to get worse until she loses the ability to walk. Her speech, vision and hearing will all begin to deteriorate.

Her dexterity and fine motor skills will get worse, as well. Scoliosis and heart complications are the final kicker. All we can do is try to keep her as physically active as possible, which is tough because of the extreme fatigue that also goes along with the disease. This is where FARA comes in. FARA’s (Friedreich’s Ataxia Research Alliance) mission is to marshal and focus the resources and relationships needed to cure FA by raising funds for research, promoting public awareness and aligning scientists, patients, clinicians, government agencies, pharmaceutical companies and other organizations dedicated to curing FA. They are our hope for a cure for Caroline and others like her who are facing this disease. That is why I am working tirelessly to raise money to support their mission. This year, for the season of Lent, I have joined the efforts of Team FARA and I am running 100 miles to raise awareness and funds.

Please consider joining me in my efforts by visiting my page 100 miles for Caroline.