Raising a child with a physical disability can be challenging.
Spinal muscular atrophy (SMA), a genetic condition, can affect all aspects of your child’s day-to-day life. Your child not only will have a harder time getting around, but also will be at risk for complications.
Staying informed about the condition is important to give your child what they need to live a fulfilling and healthy life.
To understand how SMA will affect your child’s life, you first need to learn about their particular type of SMA.
Three main types of SMA develop during childhood. In general, the earlier your child develops symptoms, the more severe their condition will be.
Type 1 (Werdnig-Hoffman disease)
Type 1 SMA, or Werdnig-Hoffman disease, is usually diagnosed within the first six months of life. It’s the most common, and the most severe, type of SMA.
SMA is caused by a deficiency of the survival of motor neuron (SMN) protein. People with SMA have mutated or missing SMN1 genes and low levels of SMN2 genes. Those diagnosed with type 1 SMA typically have only two SMN2 genes.
Many children with type 1 SMA will only live a few years due to complications with breathing. However, outlooks are improving due to advancements in medical treatments.
Type 2 (intermediate SMA)
Type 2 SMA, or intermediate SMA, is usually diagnosed between the ages of 7 and 18 months. People with type 2 SMA typically have three or more SMN2 genes.
Children with type 2 SMA won’t be able to stand on their own and will have weakness in the muscles of their arms and legs. They may also have weakened breathing muscles.
Type 3 (Kugelberg-Welander disease)
Type 3 SMA, or Kugelberg-Welander disease, is usually diagnosed by age 3 but can sometimes appear later in life. People with type 3 SMA typically have four to eight SMN2 genes.
Type 3 SMA is less severe than types 1 and 2. Your child may have trouble standing up, balancing, using the stairs, or running. They may also lose the ability to walk later in life.
Although rare, there are many other forms of SMA in children. One such form is spinal muscular atrophy with respiratory distress (SMARD). Diagnosed in infants, SMARD can lead to severe breathing problems.
People with SMA might not be able to walk or stand on their own, or they might lose their ability to do so later on in life.
Children with type 2 SMA will have to use a wheelchair to get around. Children with type 3 SMA may be able to walk well into adulthood.
There are many devices to help young children with muscle weakness stand and get around, such as powered or manual wheelchairs and braces. Some families even design custom wheelchairs for their child.
There are two pharmaceutical treatments now available for people with SMA.
Nusinersen (Spinraza) is approved by the Food and Drug Administration (FDA) for use in children and adults. The medication is injected into the fluid surrounding the spinal cord. It improves head control and the ability to crawl or walk, among other mobility milestones in infants and others with certain types of SMA.
The other FDA-approved treatment is onasemnogene abeparvovec (Zolgensma). It’s intended for children under 2 years old with the most common types of SMA.
An intravenous medication, it works by delivering a functional copy of an SMN1 gene into the child’s target motor neuron cells. This leads to better muscle function and mobility.
The first four doses of Spinraza are administered over a period of 72 days. Afterward, maintenance doses of the medication are administered every four months. Children on Zolgensma receive a one-time dose of the medication.
Talk with your child’s doctor to determine whether either medication is right for them. Other treatments and therapies that may bring relief from SMA include muscle relaxers and mechanical, or assisted, ventilation.
Two complications to be aware of are issues with breathing and spinal curvature.
For people with SMA, weakened respiratory muscles make it challenging for air to make its way in and out of their lungs. A child with SMA is also at a higher risk of developing severe respiratory infections.
Respiratory muscle weakness is generally the cause of death in children with type 1 or 2 SMA.
Your child may need to be monitored for respiratory distress. In that instance, a pulse oximeter can be used to measure the level of oxygen saturation in their blood.
People with less severe forms of SMA can benefit from breathing support. Noninvasive ventilation (NIV), which delivers room air to the lungs through a mouthpiece or mask, may be needed.
Scoliosis sometimes develops in people with SMA because the muscles supporting their spine are often weak.
Scoliosis may sometimes be uncomfortable and can have a significant impact on mobility. It’s treated based on the severity of the spinal curve as well as the likelihood of the condition improving or worsening over time.
Because they’re still growing, young children might only require a brace. Adults with scoliosis might need medication for pain or surgery.
Children with SMA have normal intellectual and emotional development. Some even have above-average intelligence. Encourage your child to take part in as many age-appropriate activities as possible.
A classroom is a place where your child can excel, but they still might need help with managing their workload. They’ll likely need special help with writing, painting, and using a computer or phone.
The pressure to fit in can be challenging when you have a physical disability. Counseling and therapy can play a huge role in helping your child feel more at ease in social settings.
Having a physical disability doesn’t mean your child can’t take part in sports and other activities. In fact, your child’s doctor will likely encourage them to engage in physical activity.
Exercise is important for general health and can enhance the quality of life.
Children with type 3 SMA can do the most physical activities, but they may tire. Thanks to strides in wheelchair technology, children with SMA can enjoy wheelchair-adapted sports, such as soccer or tennis.
A rather popular activity for children with types 2 and 3 SMA is swimming in a warm pool.
On a visit with an occupational therapist, your child will learn exercises to help them carry out daily activities, such as getting dressed.
During physical therapy, your child may learn various breathing practices to help strengthen their respiratory muscles. They may also perform more conventional movement exercises.
Proper nutrition is critical for children with type 1 SMA. SMA can affect the muscles used for sucking, chewing, and swallowing. Your child can easily become malnourished and may need to be fed through a gastrostomy tube. Speak with a nutritionist to learn more about your child’s dietary needs.
Obesity may be a concern for children with SMA who live beyond early childhood, as they’re less able to be active than children without SMA. There’s been few studies so far to suggest that any particular diet is useful in preventing or treating obesity in people with SMA. Other than eating well and avoiding unnecessary calories, it isn’t yet clear if a special diet targeting obesity is helpful for people with SMA.
The life expectancy in childhood-onset SMA varies.
Most children with type 1 SMA will only live a few years. However, people who’ve been treated with new SMA drugs have seen promising improvements in their quality of life — and life expectancy.
Children with other types of SMA can survive long into adulthood and live healthy, fulfilling lives.
No two people with SMA are exactly alike. Knowing what to expect can be difficult.
Your child will need some degree of help with day-to-day tasks and will likely require physical therapy.
You should be proactive in managing complications and providing your child with the support they need. It’s important to stay as informed as possible and to work alongside a medical care team.
Keep in mind that you aren’t alone. Plenty of resources are available online, including information on support groups and services.