Alina Citovic was diagnosed with spinal muscular atrophy at age five, just three years ago. At the time of her diagnosis, Spinraza was already approved by the FDA. While the Citovics were happy that their daughter had a viable treatment option, they didn’t like that the therapy was administered via spinal tap and serrated needle. Fortunately Alina has been able to switch her treatment to Evrysdi, an oral therapy that was approved by the FDA in August.
Spinal muscular atrophy (SMA) is rare genetic order that is characterized by muscle weakness and degeneration. It affects one in every 10,000 people but can vary in severity from person to person. A mutation in the SMN1 causes this condition, and it causes the loss of motor neurons in the spinal cord and brain stem. Due to this loss, muscles weaken and atrophy, specifically the muscles used for walking, breathing, swallowing, crawling, sitting up, and moving the head.
The symptoms of this condition depend on the severity and type of SMA.
- Type I is the most severe, and is diagnosed after birth. The symptoms of this type include developmental delay, the inability to sit up or move the head, and trouble with breathing and swallowing.
- Type II is diagnosed in children between six and twelve months old, and they experience trouble with standing and walking.
- Those who have type III are diagnosed between early childhood and adolescence and cannot walk or climb stairs independently.
- Type IV occurs in adults over 30 and is the least severe type. People with this form of SMA usually have mild muscle weakness, problems with breathing, twitches, or tremors.
Once these symptoms are noticed, a diagnosis is confirmed through neurological examination and genetic testing. While there is no cure for SMA, there are treatments available. Physical therapy, braces, and surgery can all help to improve movement. Noninvasive respiratory support and tracheostomies can address issues with breathing while gastrostomy can help with eating. Spinraza is the first FDA approved treatment for SMA, and Zolgensma and Evrysdi have also recently been approved.
Alina was diagnosed with a milder form of SMA when she was five years old, which was given nearly three years after her parents noticed symptoms. At age two and a half, she wasn’t running, jumping, or cycling. By age four, she was still unable to go on long walks without the aid of stroller. Like many rare disease patients, Alina had to undergo a lot of doctor’s appointments, tests, and frustration to finally reach her diagnosis.
About a month after the official diagnosis, Alina began taking Spinraza. While it helped to alleviate symptoms, the administration of the treatment was highly stressful and involved a spinal tap and serrated needle. In order to receive the treatment, Alina had to be sedated and have her blood drawn. Over time she developed a fear of needles and was even diagnosed with medical trauma.
Fortunately, another SMA treatment was approved by the FDA. As of August, Evrysdi became available to SMA patients throughout the US. It is an oral treatment that can be taken at home, therefore negating the family’s need to drive to Portland for Spinraza.
Nearly a month’s worth of medication is shipped directly to the Citovics, and Alina simply shoots it into her mouth with a syringe. She says that she prefers this treatment; it’s “a lot easier” and “tastes like strawberries.”
One of Alina’s doctors, Dr. Erika Finanger, has stated that while not many patients have switched to the oral treatment yet, she believes that it will gain popularity in the near future. Many families have avoided switching due to the smaller amounts of data that we have on Evrysdi, but the Citovics have said that they already noticed an improvement in Alina’s stamina and strength.
Now that Alina is receiving the best treatment for her, the Citovics have turned their attention towards advocating for newborn screening. They are pushing for spinal muscular atrophy to be added to the list of diseases included in this screening in Oregon, as it has been recommended for more than two years.
It is important to make an SMA diagnosis as early as possible, as treatment is most effective when it is administered early in disease progression. To help the government understand this, both Dr. Finanger and Alina’s mother, Trudy, have spoken with their Senator, Betsy Johnson.
They helped her understand that the cost of screening for SMA at birth is much smaller than providing lifelong treatment to SMA patients, therefore making it a better option for patients and the state’s budget. Hopefully Senator Johnson is able to help bring this screening to Oregon, so that it can join the 33 other states that already include SMA in their newborn screening.
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