Early Intervention and Spinal Muscular Atrophy: Linked In with Baby Lincoln

by ih-chi admin

We recently shared important information in a past blog about a newborn screening that will soon be approved in Texas for all babies born here. Testing for the detection of SMA (Spinal Muscular Atrophy) will be added to the newborn screening panel by the end of the year via the Texas Department of State Health Services.

Dr. Meeta Cardon, Pediatric Neurologist and Neuromuscular specialist at Child Neurology Consultants of Austin (CNCA) and the only one in Austin so far fellowship-trained in neuromuscular conditions like SMA, says that early detection is essential for life-saving intervention and treatment.

One example of how early diagnosis and swift intervention has made all the difference is in Dr. Cardon’s young patient, Lincoln. Lincoln was diagnosed with SMA-Type 1 at two months old. 

He received a one-time gene therapy treatment after immediate diagnosis via a drug named  Zolgensma, and he has made remarkable gains in terms of strength since then. 

Lincoln is now ten months old, and his mother, Amanda Schafer, says that “he is able to breathe without any interventions, eat table foods, swallow, laugh, cry, roll, sit, play in a bouncer,  and even say a few words!”  She adds that physical therapy sessions are a huge part of his care, and it is important to note that daily exercise and stretching is vital for the ongoing growth and development of children with SMA.  

We asked Amanda a few questions to help our community better understand this extremely rare and extremely debilitating genetic condition.

What advice would you give to a family who receives a new diagnosis of SMA?

SMA is nothing like it was before treatment options — there is so much hope now! The biggest mistake I made was to Google “SMA” on the Internet when I learned of his diagnosis, there was not a lot listed about treatment and positive outcomes in that initial search, however then I found the Cure SMA organization which gave me more valuable and hopeful information about my son’s diagnosis and his future. They have been a blessing to our family in so many ways. 

How has Dr. Cardon and Child Neurology Consultants specifically helped you during this journey?

Dr. Cardon and her team saved my son’s life. As soon as we found out about his SMA diagnosis, Dr. Cardon was there to fight for treatment and get it done very quickly. She is a very knowledgeable neurologist and extremely kind and professional. I’m so thankful for everything she and her team have done for our family, and words can not express how much they all mean to us.  

We are thrilled that young Lincoln is doing well and humbled by the opportunity to work closely with him and his family.  We hope more patients like him can continue to receive an early diagnosis and treatment as SMA Newborn Screening is realized in Texas.  

Child Neurology Consultants of Austin has experience treating a wide range of neurological and rheumatic disorders, including SMA,  in children and teenagers from 0 to 21 years old. For an appointment with one of our specialists and to learn about our current telehealth services, please visit us here.