Being a new parent is hard enough. And on top of that, as much as we try to research and prepare, sometimes the unexpected happens.

If your baby has had a positive test result for spinal muscular atrophy (SMA) from their newborn screening panel, you aren’t alone. Other parents have traveled this road and can offer you advice and support. You will likely be referred to a team of experts to help guide your family on this journey.

SMA has been understood as a condition separate from muscular dystrophy since only the 1990s. The good news is, genetic research and testing have continued to improve, so it’s now possible to screen at birth or even during pregnancy for the gene differences that cause SMA. Treatments for SMA are fast improving, and so are outcomes for children with SMA.

Why Is Newborn Screening for Spinal Muscular Atrophy Important?

Newborn screening for SMA is particularly important for several reasons:

• Early detection and treatment improve quality of life and survival.
• Mandated screening means mandated learning for clinicians and all pediatric health care providers. More people are diagnosed and treated properly when there’s increased awareness.
• The collected data improve scientific knowledge about SMA.

SMA is a motor neuron disease. This means the body’s control of its muscles will likely deteriorate over time, leading to progressive muscle weakness and other complications. These current treatments have been shown to slow the progression of this deterioration:

• Nusinersen (Spinraza)
• Onasemnogene abeparvovec-xioi (Zolgensma), a gene therapy
• Risdiplam (Evrysdi)

Even if your baby shows no symptoms, it’s crucial to begin treatment to protect and preserve your baby’s functional abilities for as long as possible.

Read more about how SMA gene therapy works.

Which States Screen Newborns for Spinal Muscular Atrophy?

Forty-eight states have added SMA testing to their mandated newborn screening programs as of January 2023. This change has been made because early diagnosis is the first crucial step in starting treatment as soon as possible.

You can stay updated on state screening by checking the status report at Cure SMA.

How Are Newborns Screened for Spinal Muscular Atrophy?

Newborns are commonly screened for SMA with a blood test. Usually, the baby’s heel is pricked with a tiny needle (a method called a heel stick), and a small amount of blood is collected to perform a variety of tests. Depending on the state you live in, your health care provider will perform genetic testing with one dried blood spot, in addition to other kinds of blood tests for anywhere from 30 to more than 60 health conditions.

If your state doesn’t routinely test for SMA, you may want to consider asking your provider for the test. About 1 in 10,000 newborns are affected by SMA, and because early treatment is the recommended course of action, it makes sense to know right away if your baby is affected.

Testing Positive for Spinal Muscular Atrophy: Next Steps

If your newborn has tested positive for SMA, your doctor will likely refer you to a team of pediatric experts who will recommend personalized treatments and continue to follow up with your family over time. These referrals may include:

• Genetic counselors — Guide you through options, such as testing both parents to inform future pregnancy decisions
• Neurologists — Perform more tests to make a conclusive diagnosis
• Occupational therapists — Monitor your baby’s ability to eat and swallow
• Nutritionists — Can help if your baby is having trouble feeding
• Physical therapists — Help your child develop to their fullest capacity over time
• Pulmonologists — Provide help if your baby is experiencing difficulty with coughing or breathing
• Mental health professionals or support groups — Can uplift and support your entire family

A health care provider will also guide you through the drug treatment options available to your newborn. Research suggests that beginning therapeutic drug treatment as soon as possible is very helpful in developing and maintaining your child’s physical abilities. Dr. Mary Schroth, chief medical officer at Cure SMA, notes that beginning treatment before your baby shows any symptoms is optimal for their long-term health and abilities.

If your primary care provider and your baby’s pediatrician aren’t already involved, let them know that your baby’s screening results are positive for SMA.

Above all, remember to reach out for support when you need it, and accept support as it’s offered to you. No family needs to go through this alone. Your friends, neighbors, and spiritual community might be able to assist you. If they offer to help with child care, meals, and housecleaning, take them up on it. Helping out can feel as good to those lending a hand as it does to those receiving support.

Read more about parenting a child with SMA.

Talk With Others Who Understand

On mySMAteam, the social network for people with spinal muscular atrophy and their loved ones, more than 2,000 members come together to ask questions, give advice, and share their stories with others who understand life with SMA.

Has your child tested positive for SMA during newborn screening? Have you put together a team of pediatric experts? Share your experience coping with this diagnosis in the comments below, or start a conversation with others who understand by posting on your Activities page.