Being a new parent is hard enough — and as much as we try to research, absorb, and prepare, sometimes, the unexpected happens.

If your baby has tested positively for spinal muscular atrophy (SMA) through their newborn screening panel, you are not alone. Other parents have traveled this road and are waiting to offer you advice and support. You will likely be referred to a team of experts to help guide your family on their journey.

SMA is an inherited neuromuscular disorder that causes muscle weakness and degeneration over time. It has only been understood as a condition separate from muscular dystrophy since the 1990s. The good news is, genetic research and testing have continued to improve, so doctors are now able to screen babies at birth — or even during pregnancy — for the gene differences that cause SMA. Treatments for SMA are fast improving, and along with them, outcomes for people with SMA.

Why Is Newborn Screening for SMA 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 is increased awareness and sensitivity.
• The collected data help science improve.

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. Current treatments have been shown to slow the progression of this deterioration:

• Spinraza (nusinersen)
• Gene therapy Zolgensma (onasemnogene abeparvovec-xioi)
• Evrysdi (risdiplam)

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

Which States Screen Newborns for SMA?

Forty-two states have added SMA testing to their mandated newborn screening programs as of February 1, 2022, and more are expected to add screening over time. This change has been made because early diagnosis is the first crucial step in starting treatment as soon as possible.

You can stay updated as states add screening by checking this list at Cure SMA.

How Are Newborns Screened for SMA?

Newborns are commonly screened for SMA with a blood test. Usually, the baby’s heel is pricked with a tiny needle (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 29 to more than 50 different health conditions.

If your state does not 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 at this time, it makes sense to know right away if your baby is affected.

Testing Positive for SMA: 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 can include:

• Genetic counselors, who will guide you through options like testing both parents to inform future pregnancy decisions
• Neurologists, who perform more tests to make a conclusive diagnosis
• Occupational therapists, who can monitor your baby’s ability to eat and swallow
• Nutritionists, who can help if your baby is having trouble feeding
• Physical therapists, who can help your child develop to their fullest capacity over time
• Pulmonologists, who provide help if your baby is experiencing difficulty with coughing or breathing
• Mental health professionals or support groups, who can uplift and support your entire family

A health care provider will also guide you through the different 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.

Let your primary care provider and your baby’s pediatrician know that your baby has tested positive for SMA, if they aren’t already involved.

Above all, remember to reach out for support when you need it and to accept support as it is offered to you. No family needs to do this alone. Your friends, neighbors, and spiritual community might be able to help out. If they offer to help with childcare, meals, and housecleaning, let them help. Helping out can feel as good to those helping as it does to those receiving support.

Talk With Others Who Understand

On mySMAteam, the social network for people with SMA, more than 1,300 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? 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.