Florida 17th State to Add Spinal Muscular Atrophy to Their Newborn Screening Panel

Trudy Horsting

Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) is caused by a mutation in the SMN1 gene. This mutation results in a loss of motor neurons causing weak and atrophied muscles. Not only does this muscle weakness affect the mobility of the patient, it can impact their ability to breathe and swallow. There are four different forms of the disease, with type 1 and type 2 being the most debilitating. Approximately 1 in every 6,000-10,000 newborns have the condition.

Thankfully, we now have an approved treatment for SMA called Spinraza. Spinraza was approved by the FDA in December of 2016. The drug helps to increase the body’s production of the protein necessary for maintaining motor neuron function. However, to be effective in eliminating patient symptoms, this treatment must be received early.

In July of 2018, SMA was finally added to the newborn screening panel in the United States. With this screening, many more patients will be diagnosed as newborns, allowing them to start treatment immediately after birth, and ultimately improving their outcomes. That said, each state has to individually approve the test for SMA for their own panel.

News From Florida

Florida has just become the 17th state in the United States to add spinal muscular atrophy to their newborn screening panel. This decision was made on February 15, 2019. From that date, the Department of Health is given a timeframe of 18 months, at the end of which the test must be implemented.

This test will be completed at a state lab located in Jacksonville. Other diseases currently screened at this Florida lab include severe combined immunodeficiency and sickle cell anemia. Parents do have the option to opt out of this screening, but it is obviously highly recommended. You can read the full list of diseases screened in Florida here.

For SMA specifically, this new screening should diagnose approximately 20 children each year in Florida, allowing them to access life-altering treatment as soon as possible. Most of these SMA diagnoses will be for type 1 and type 2 which are the most severe forms of the condition. For these forms especially, early treatment with Spinraza can literally be life-saving.

The Myers Family

The Myers family’s SMA story truly tells it all. Kyle and Katie Myers gave birth to a son with Type 2 SMA five years ago. His name is Kaden. It took seven months for their child to receive the proper diagnosis. Sadly, even once they knew what was wrong, there were practically no options for the family. There were no approved treatments on the market and he was too old to participate in the clinical trial for Spinraza that was happening at the time.

Fortunately, Spinraza was eventually approved in 2016 and Kaden was able to begin treatment. While his condition did not improve, it stopped getting worse. He is still wheelchair-bound, but at least his SMA is no longer progressing. The sad thing is if this treatment had been approved and he had received his SMA diagnosis as a newborn, he could have lived a practically normal life.

A Second Child

When Katie Myers became pregnant with the family’s second child, she knew the baby had a great chance of having the genetically passed SMN1 mutation. Their daughter Kenna was diagnosed with SMA at 10 days old and began treatment with Spinraza immediately thanks to a clinical trial. Kenna, now 2, lives like a normal toddler. Had she not received Spinraza at such a young age, she would be wheelchair-bound like her brother. The children share the same genetic mutation that causes SMA but the way they will experience life is completely different. For Kenna, her positive outcomes are all thanks to early diagnosis.

This family’s story is clear evidence of how impactful newborn screening can be.

These parents had the opportunity to advocate for SMA screening by speaking directly to the Genetics and Newborn Screening Advisory Council in Florida before they voted on the addition of SMA. They talk about how powerful it was to be involved in this policy change. They feel blessed knowing that it will have an impact on other kids with SMA in Florida.

You can read more about SMA screening in Florida and the Myers family’s story here.

What are your thoughts on this new addition of SMA newborn screening in Florida? Share your stories, thoughts, and hopes with the Patient Worthy community!

Trudy Horsting

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Florida 17th State to Add Spinal Muscular Atrophy to Their Newborn Screening Panel

Trudy Horsting

Spinal Muscular Atrophy

What are your thoughts on this new addition of SMA newborn screening in Florida? Share your stories, thoughts, and hopes with the Patient Worthy community!

Trudy Horsting

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