What Living with SMA is Like: A Qualitative Research Perspective

Since spinal muscular atrophy (SMA) is relatively rare, it is unusual for physicians outside of specialized centers to have a large experience with patient who have SMA and the parents. Ying Qian and colleagues undertook a series of 16 focus group sessions comprised of 37 interviews with 96 people who are affected by SMA. The group consisted of 21 people with SMA, 64 parents of children with SMA, 11 healthcare providers who specialize in SMA patient care. Through these interviews and qualitative analysis, healthcare professionals can get a sense of the issues that are most important to those affected by spinal muscular atrophy.

From first symptoms to diagnosis

Parents of children with SMA commonly stated that the time spent searching for a diagnosis for their child was long and difficult. Through interview, the authors found that this is related to three core factors. First, parents have a difficult time distinguishing between normal development and abnormal development. Was the child simply slow to develop or falling behind/displaying signs of SMA? Second, patients initially encountered physicians who knew very little about SMA. Since the providers did not include SMA in the differential diagnosis, they were unable to reach the right diagnosis. Third, providers made the wrong diagnosis of a more common disease, e.g., muscular dystrophy. This delayed the correct diagnosis.

Psychosocial issues related to SMA

Parents who have children with SMA all speak of the tremendous physical, psychological, and emotional demands placed on the entire family. Simultaneously caring for healthy siblings is an added layer of difficulty, since so much time and energy are devoted to the child with SMA. Qian and colleagues identified several thematic areas that affected parents, patients, or both.

Confronting death— Parents of children with more severe forms of SMA know that life for their child is likely to be short and difficult. While they take comfort from being in support groups with other parents of children with SMA, is also difficult to watch as those children die from the disease knowing that their child could be next.

Facing difficult treatment decisions— Parents are often faced with difficult decisions, such as choosing between an invasive procedure or opting for palliative care.

Fearing the loss of functional ability— Parents stated that they were constantly in fear that children would lose physical functions that they had attained, and mourned the loss of these abilities when they were gone.

Coming to terms with lost expectations— Parents grieved the loss of the life they had envisioned for the child. Some parents expressed guilt that they contemplated how this disease ruined their hopes and aspirations for the child.

Loss of sleep and stress— Many children with SMA required virtual round-the-clock care; parents reported losing substantial amounts of sleep and experiencing chronic stress because of the physical demands of ongoing care.

Stigma— Parents frankly discussed the stigma surrounding caring for children with obvious disabilities. They expressed frustration at a lack of handicapped accessible facilities, while at the same time lamenting the fact that they were being stereotyped and treated differently than able-bodied children.

Limitations on social activities— Both parents and patients felt that they were substantially hindered from engaging in social activities and activities outside the home. Again, a lack of handicapped accessible facilities was a commonly voiced challenge.

Achieving independence— There is a tension between wanting children with SMA to eventually become independent and the amount of support that would be needed to make that happen. For example, one parent expressed pride that her child was going to leave for college, but did not know how she would afford schooling and all of the specialized supportive care that her child would need during college.

Uncertainty and helplessness— Most parents felt as if they had little to no control over their personal and family’s future. One parent poignantly described the paradox of planning for the future while also planning for your child to die.

Finances— Parents and clinicians estimated that the cost of caring for a child with SMA ranged from hundreds of thousands to millions. The cost of caring for a child with SMA is not only represented by the initial outlay, but in the time lost from work that results in lost earning potential.

The authors point out that the course of SMA is highly variable, and the experiences of patients and parents vary just as widely. Parents of a child with SMA type 1 often differ greatly from parents of a child with SMA type 3. Nonetheless, this qualitative analysis offers healthcare providers a glimpse into the real life struggles of parents and patients with SMA.