Coping With Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) is a devastating, sometimes fatal, genetic condition that involves a loss of motor nerve cells in the spinal cord. SMA usually develops in infancy or childhood, though, it may also develop in adults (this is rare).

Gradual muscle weakening is the hallmark feature of SMA and can lead to problems sitting, standing, walking, eating, and breathing. Cognitive development generally remains normal.

In addition to the immense physical challenges of living with SMA or caring for a baby or child with SMA, there are also emotional challenges. If you are a parent of a child with SMA, you may deal with heart-wrenching end-of-life care issues. If you are an older child, teenager, or adult living with SMA, you may grieve your loss of walking and the independence that provides.

There are also social and practical challenges, like dealing with isolation and financial stresses.

Coping with these numerous SMA-related challenges is no easy or simple task. Try to remain at ease. Taking it one day and one issue at a time may make it easier to face these challenges.

The emotional toll of living with SMA or caring for a baby or child with SMA is tremendous. In fact, it's normal for parents of children with SMA (and adults living with SMA) to experience a wide range of unpleasant and distressing emotions on a daily basis.

Some of these emotions include sadness, anxiety, anger, and frustration. To address these. there is support available, as well as things you can do to ease your mental fatigue and emotional heaviness.

Sadness, fear, and anxiety over your baby or child's declining physical function and medical fragility can be overwhelming and gut-wrenching. Parents may feel helpless and vulnerable as they balance trying to help their baby or child and plan for their future, while also accepting the fatality of the disease.

Likewise, adolescents and adults with SMA may feel restricted by their dependence or feel anxious about losing privacy as they need more care.

Seeking out emotional support from loves ones and from a healthcare professional is important for coping with a diagnosis of SMA. When talking to your loved ones, try to be open and honest, and be specific about what you need. For instance, you may say, "I am feeling exhausted and scared lately. It would be so nice to hear from you more—an encouraging text or voicemail goes a long way."

Support from an SMA organization can also be very helpful, not only for your comfort but for educating yourself, especially since there have been advances in the treatment of SMA.

Some SMA organizations you may consider reaching out to, include:

• Cure SMA
• Muscular Dystrophy Association
• Gwendolyn Strong Foundation
• SMA Foundation

Grief is a reaction to loss, and SMA is associated with many physical and emotional losses. For example, parents often grieve the fact that their babies with SMA will not reach normal motor milestones, like standing or walking.

Likewise, children with SMA may reach milestones, only to lose them later, which can be equally, if not more, disheartening to witness.

In addition, the parents of infantile-onset SMA may grieve the loss of hopes and dreams they had for their precious baby. These dreams may be as simple as playing outside with friends, to achieving life's major goals, like getting married or graduating high school.

Once recognized, you can consider grief counseling or consider engaging in one or more grief-healing activities, such as:

• Keeping a journal
• Seeking out spiritual or religious guidance
• Participating in a mind-body therapy, like mindfulness meditation

If your infant or child has SMA, try to find some time to practice basic self-care. In the end, addressing your physical needs will ultimately benefit your emotional health.

For instance, make sure you are eating three meals a day (as healthy as you can) and get some form of daily exercise every day, even if it's just for a quick walk around the block. Also, remain proactive in your own health care needs, like seeing your doctor for regular check-ups.

If you are an adolescent or adult living with SMA, in addition to engaging in healthy lifestyle habits, remember to devote time to your hobbies and life's comforts—it's these passions and joys that will help carry you through your more difficult times.

There are lots of physical challenges involved in living with or caring for someone with SMA, and the specific challenges depend on the type of SMA a person has.

There is no cure for SMA; although, there are therapies to help manage and in some cases, slow down muscle weakness.

SMA type 0 (diagnosed prenatally) and type 1 (diagnosed in a baby's first six months) cause very severe and fatal breathing muscle weakness.

In addition, about one-third of babies with SMA type 2 (diagnosed before 18 months of age) develop breathing problems during childhood.

To provide breathing support for these infants and children, therapies, such as non-invasive nasal ventilation or a tracheostomy with mechanical ventilation, may be used.

Difficulties feeding and swallowing and failure to thrive are universal for infants with SMA type 0 and 1. Problems swallowing may also develop in an infant with SMA type 2.

To combat these issues, a feeding tube may be placed to ensure adequate nutrition and to reduce episodes of aspiration, which can lead to infection.

While malnutrition is common in SMA type 1 and some patients with SMA type 2, obesity can be a problem in SMA type 3 and 4 (these patients may not be as active as a result of their physical disabilities).

To maintain proper nutrition and a healthy weight, most patients with SMA will see a dietician.

Patients with SMA type 2 are never able to stand or walk on their own. They eventually develop scoliosis (abnormal spinal curvature) due to the weakening of the back muscles. Scoliosis is also pretty universal in patients with SMA type 3 who are not able to walk independently.

The challenge with scoliosis is that it can eventually lead to breathing problems. While spinal bracing may be used to slow down the progression of scoliosis, surgery is ultimately the treatment of choice.

Physical therapy plays an essential role in improving daily functioning and quality of life in patients with SMA, especially those with types 2, 3, and 4.

A physical therapist can design a treatment plan that often includes muscle stretching and strengthening exercises. These exercises can preserve flexibility, prevent joint contractures, and increase physical fitness and stamina.

Patients with SMA who cannot walk will require a mobility-assistive device, such as a power or manual wheelchair. Often times, a wheelchair can be started as early as 18 to 24 months of age.

While there is no cure for SMA, there have been advances in treatments. Specifically, Spinraza (nusinersen) and Zolgensma (onasemnogene abeparvovec) are two gene therapies that may be used to slow down SMA in babies and very young children.

Spinraza may also be used in children up to 12 years of age with moderate symptoms of SMA (for example, children who are able to sit independently without severe breathing or feeding problems).

Social isolation and loneliness are common with SMA, both for the patient and for their families and caretakers.

For instance, parents of children with SMA are often so consumed with caring for their child that they have little time for interacting socially with family and friends. Unfortunately, these important leisure activities are often pushed to the side due to the demands of caring for someone with SMA.

Relationships may also become strained or stressed, and parents of children with SMA may worry about the state of their marriage or the parent-child bonds with their other children.

Likewise, adolescents or adults living with SMA may struggle to adapt to social situations, especially if they have lost their ability to walk. They may avoid social outings because of wheelchair access issues or a deeper struggle with their sense of identity or self-worth.

That said, despite the increase in parental stress and the reduction in social support seen among families with children or adolescents with SMA, research has found that SMA families' ability to cope is the same as the coping ability of families with healthy children. This is a positive and very hopeful finding—and a true testament to the resiliency of families living with SMA.

Some coping strategies that may be helpful in navigating the social challenges of SMA include:

• Communicating your specific needs to loves ones (most people want to help, they just don't know how)
• Educating your friends, loved ones, neighbors, or your community about SMA, so they can better understand your daily and personal struggles
• Scheduling regular social outings (for example, a coffee break with your spouse or lunch with a friend once a week)
• Participating in a support group or group therapy (either online or in-person) where you can meet people in the same position 

In addition to the emotional, physical, and social challenges of SMA, there are also day-to-day practical challenges, such as dealing with financial pressures and preparing for emergencies.

There are significant financial costs when it comes to SMA.

Examples of such costs include paying for:

• Housing that is wheelchair-accessible
• Medical and mobility equipment
• Specialized bedding
• Formula for a feeding tube
• Doctor visits and hospitalizations
• Respite care

These financial pressures, along with job constraints (for example, only one parent may be able to work, so the other can provide care) can be stressful and all-consuming.

Encouragingly, with each passing day there is more and more awareness and education about SMA, especially as gene therapy drugs are being actively explored. This awareness may eventually lead to policy changes, which can hopefully translate into better insurance coverage and financial assistance for families.

Until then, do not hesitate to reach out to the social worker on your healthcare team if you have financial concerns. There may be organizations that can assist you with your specific needs.

With SMA, it's essential that families plan for potential emergencies, like a medical device malfunctioning or a child with SMA becoming ill. This means talking with your healthcare team about the precise and specific steps to take in the event an emergency occurs.

By being proactive and preparing for issues that may arise, you will be able to remain calmer during the emergency, and you will also likely improve the chances of a positive outcome.

Living with SMA or caring for someone with SMA is an enormous feat that requires deep inner resiliency, immense support from health care professionals and loves ones, and the utilization of various coping strategies.

As you move forward, continue to remain patient and be kind to yourself. Try to find some peace and joy each day and know that you are doing your very best.