Spinal Muscular Atrophy Pediatric Pulmonologist

Dr Mary Schroth

Pediatric pulmonologist

Advances in medical knowledge and supportive care

Dr Mary Schroth, a pediatric pulmonologist, discusses how medical knowledge and supportive care for children with spinal muscular atrophy (SMA) have improved over the past 20 years.

Q:  What or who inspired you to specialize in the care of children with spinal muscular atrophy (SMA)?

DR SCHROTH: It was my first patient, whom I met when she was 4 years old. I had never met a patient with SMA before. She came to me on supplemental oxygen, which she used during sleep at night. She and her family had gone to the national SMA conference, and came back knowing that they needed to get certain pieces of equipment to support their daughter. And they needed to get their care team together to include a pulmonologist. They encouraged me to go to the Families with SMA conference, which was my first SMA conference. That was in 1998. And I have gone to every conference since. From a pulmonary perspective, it’s a very interesting disease—just to understand the physiology and do what we can do to help make it better for patients. The young woman is now 27 years old and she just posted on Facebook that she was my first patient, which was amusing to see. I am so proud of her accomplishments.

Q:  What is one of the more common respiratory problems that you see in children with SMA?

DR SCHROTH: Individuals with SMA have hypoventilation (breathing at an abnormally slow rate), and they have lower oxygen saturation during sleep, which is what caught my attention about my first patient. When I met her, she was on supplemental oxygen during sleep at night. And from my knowledge base, what makes sense was that this was hypoventilation and you don’t manage hypoventilation with just oxygen. So it’s an interesting physiology question for me. 

Q: Was that part of the challenge of caring for individuals with SMA, that there wasn’t a deep understanding of some of the medical issues?

DR SCHROTH: At the time, 1998, yes. Twenty years ago, hypoventilation wasn’t well recognized and we didn’t have a lot of options for intervention. The devices that were available to manage hypoventilation were primarily doing tracheotomies and putting people on ventilators. The technology for noninvasive ventilation or with BiPAP (bilevel positive airway pressure) was relatively new, especially in children. The devices were not very kid-friendly and the interfaces were even less kid-friendly, so there were challenges.

Other posts by Dr Schroth

The role of the pediatrician

Dr Mary Schroth, a pediatric pulmonologist, discusses the important role of the pediatrician in the care of children with spinal muscular atrophy (SMA).


Multidisciplinary care in SMA

Dr Mary Schroth, a pediatric pulmonologist, discusses some of the benefits and challenges of the multidisciplinary care team model in spinal muscular atrophy (SMA).