What to do if your child is diagnosed with Spinal Muscular Atrophy

Finding out your child has spinal muscular atrophy (SMA) can feel overwhelming. But today, there is more hope than ever. 

Thanks to new medical treatments, most children with SMA can grow up strong and live healthy lives. At UK HealthCare, we are here to help you and your family every step of the way.

Dr. David Neil Toupin, a child neurologist and director of the Neurology Evaluation and Management Optimization (NEMO) Clinic, shares his insights and advice for families navigating an SMA diagnosis. 

What is SMA?

SMA is a rare genetic disease that affects the nerves and muscles. It causes weakness in the muscles that control movement and sometimes in those that control breathing. 

In Kentucky, about five babies each year are born with a type of SMA. The most common type is also the most severe. In the past, many children with this type did not live past age two. 

Today, things are different. Because of powerful treatments, most children diagnosed early are now able to live normal, happy lives.

What are SMA types 

SMA is divided into different types, called types 1 through 4. In the past, these types helped doctors understand how much strength a person might have. Type 1 is the most severe and type 4 is the mildest. (You may research that there is a type 0 SMA, but true type 0 is exceptionally rare.)

Because children are diagnosed and treated early, the severity of each type is not as important today. Most children who start treatment early follow their own path and often do better than expected.

What to do if your child is diagnosed

If your child is diagnosed with SMA, try not to panic. Most families first hear about SMA after a newborn screening test. This test uses a small sample of blood taken from your baby’s heel shortly after birth. If the results are positive, your baby will have more lab tests to confirm the diagnosis.

You will also meet with a child neurologist who will explain what SMA means for your child. If SMA is confirmed, your care team will act quickly to start treatment. 

It is very important to begin treatment early. These treatments help your baby keep the muscle strength they already have, which is important for growing and developing well.

Treatment plans for SMA

At UK HealthCare, we build a team based on what your child needs. Some children will need several doctors and specialists. These may include a:

• child neurologist
• lung doctor
• bone doctor
• rehab doctor

Other children who respond well to treatment may only need a smaller team that includes a neurologist, nurse coordinator and physical therapist.

All families meet with a genetic counselor to learn more about how SMA is inherited and what it means for future family planning.

There are three treatments for SMA approved by the Food and Drug Administration. They are all very effective. These treatments help stop the disease from getting worse by fixing the main problem with th SMA genes and the SMN protein that muscles need to work.

Each treatment works a little differently and has its own benefits and risks. Your child’s neurologist will help you choose the best one for your family. 

There are also new research studies and clinical trials that may lead to more options in the future.

Support for children and families

Families facing SMA are not alone. At UK HealthCare, we provide care for both the child and the family. 

Our NEMO clinic includes a psychologist, social worker and pediatric support team to help with emotional and mental health needs.

There are many tools that can improve daily life and help children with SMA move more easily, take part in school, and stay connected. They include:

• power scooters
• wheelchairs
• lifts
• adaptive devices

National groups like CureSMA offer education, events and a strong community of support.

With the right care and resources, children with SMA can live full and active lives. Families can stay hopeful knowing they have a team by their side.

Why choose UK HealthCare

UK HealthCare offers expert care for children with SMA. Our team has experience with all current treatments and stays up to date with the latest research. We are proud to provide care that is respectful, personal, and focused on your child’s needs.

We will create a plan that works best for your family because we believe every child deserves the best care possible.

If you would like more information about our SMA program, please reach out to Dr. Toupin at d.n.toupin@uky.edu or click here to visit our website.