Avery Canahuati, an infant born with spinal muscular atrophy (SMA), died this week after making headlines with the bucket list her parents created for her. Baby Avery crossed an admirable number of items off her bucket list before pulmonary complications took her life.
Her parents have made it their mission to spread the word about SMA. But what is this devastating illness?
Spinal muscular atrophy is actually a group of muscle diseases that is passed genetically from parents to child. Most of the time, a child is born with the disease only if both parents are carriers of the gene. In those circumstances, 25 percent of children will be born with SMA, though it is not known what other factors might make a child more susceptible.
The disease is classified by type, with Type I being the most severe and Type IV being the least severe. Most children born with SMA do not live beyond two or three years of age, though adult onset of the illness is possible with Type IV.
Since early symptoms of SMA mimic other muscle diseases, a doctor is needed to definitively diagnose it in children or adults. In most cases, parents will notice extreme muscle weakness in the child, as well as difficulty breathing and swallowing. Infants with SMA may not be able to control their neck muscles at all. A muscle biopsy, MRI of the spine, or nerve conduction test might be needed for diagnosis.
The prognosis depends on the type of SMA the child has. Type I sufferers sometimes pass away in infancy from respiratory problems, while Type II sufferers might live through early childhood. Those who suffer from Type III SMA live longer, sometimes until adulthood, and those with Type IV might not discover the problem until they are adults.
Unfortunately, there is no cure for spinal muscular atrophy, and no way to treat the illness. The only remedy available is treatment of the symptoms, which sometimes involves physical therapy, breathing treatments, and palliative care. The goal is to make the patient as comfortable as possible and to reduce the chances for respiratory distress.
Until Avery Canahuati’s publicized battle with SMA, most people did not even know the disease existed. It is now receiving considerable attention, however, and there are several organizations that raise awareness about SMA and devote time and resources to the discovery of a cure.
Sources: Fight SMA, What is SMA?
US National Library of Medicine, Spinal muscular atrophy