An Australian couple shares their story of finding out that their daughter Aviana, has spinal muscular atrophy (SMA).
SMA is a rare genetic disease, which effects the nerves that control muscle movement. This disease can lead to paralysis, as well as a difficulty breathing and swallowing.
Aviana’s parents were shocked to hear that their child may not live to see their first, or even second, birthday. Of all the genetic causes of infant death, SMA is #1; yet most parents do not know whether or not they are carriers of the genes.
But there is hope, and it’s in a new called nusinersen.
Forty percent of infants and babies with SMA type 1 in a recent trial were able to sit, crawl, and walk with this treatment. Aviana is one of those babies. While she will most likely have SMA-related complications in the future, her doctor and parents believe she is getting progressively stronger with this treatment.
Today, her parents are advocating for genetic testing, as well newborn screenings for SMA so that no one else has to suffer as they did.
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