According to a story from abc.net.au, parents Kellee and Jamie Clarkson of Queensland, Australia are calling for the implementation of newborn screening in the state for the rare disorder spinal muscular atrophy (SMA) after their daughter Wynter was diagnosed when she started showing early signs and symptoms. While Wynter is currently showing improvements after being treated with Spinraza, the family is convinced that her condition would be far better if the disorder had been detected at birth.
About Spinal Muscular Atrophy (SMA)
Spinal muscular atrophy is a type of neuromuscular disorder in which the motor neurons are destroyed, leading to muscle wasting. Without prompt treatment, the disease is lethal in many cases. This disorder is linked to genetic defects of the SMN1 gene. This gene encodes a protein called SMN, and when not present in certain amounts, neurons are unable to function. There are different kinds of spinal muscular atrophy that are categorized by when symptoms first appear. These symptoms may include loss of reflexes, muscle weakness and poor muscle tone, problems with feeding and swallowing, developmental delays, respiratory muscle weakness, tongue twitching, and a bell shaped torso. The most effective treatment currently available for the disease is called Zolgensma. To learn more about spinal muscular atrophy, click here.
Newborn Screening Makes a Difference
Kellee and Jamie are far from the only family in the country to call for newborn screening for the disease. It is likely that it will happen in the not-too-distant future. In New South Wales, a pilot program will add spinal muscular atrophy to the standard heel-prick test, with tests for 200,000 newborns expected to be conducted. Dr. Chris Perry, VP of the Australian Medical Association Queensland (AMAQ) says that kids across the country should get the same chance no matter where they live.
“If you can pick it up at birth, you can treat very effectively before the onset of any symptom, any deterioration in the neurological health of these kids,” Dr. Perry says.
Meanwhile, the Clarksons can only imagine how much better off Wynter would be if she had gotten treatment before her symptoms had started. The nationwide implementation of newborn screening for the disorder is a must so that situations like this never happen again.