Morgantown, WV– In 2014, Autum Johnson delivered a healthy, happy baby boy she named Alexander. As he developed, Alexander started to lose the ability to move. At five weeks old, Alexander was diagnosed with spinal muscular atrophy type 1 (SMA-1), a rare genetic disorder that is related to ALS (commonly known as Lou Gehrig’s Disease). As these children progressively lose movement, they become locked in their bodies. Babies with SMA-1 are not able to sit up, swallow, or breathe without assistance and require specialized 24-hour care. Alexander’s movement is currently limited to his eyebrows, jaw, and index fingers.
“I’m completely open about everything that is going on with Alex. I hope that another mother finds the information and doesn’t have to make the mistakes we made early in the process just because the information wasn’t out there,” Autum explains.
The Number One Genetic Killer of Infants
While SMA-1 seems at first glance to be a rare disorder, it is the number one genetic killer of infants under the age of two. One out of every forty adults carries the genetic mutation that causes SMA-1. If both parents are carriers of the gene, there is a 25% chance, or one in four, that their child will develop SMA-1.When Alexander was first diagnosed, the doctors told Autum that he probably would not live 6 months. Because SMA-1 is so rare and so many children die before their second birthday, Autum had to become an expert in Alexander’s condition. Right now, Alexander is the only living SMA-1 baby registered in West Virginia. Autum regularly shares information about Alexander’s condition on his dedicated Facebook Page, PrayersforAlexander. “I’m completely open about everything that is going on with Alex. I hope that another mother finds the information and doesn’t have to make the mistakes we made early in the process just because the information wasn’t out there,” Autum explains.
A Potentially Lifesaving Medicine Being Held Up in FDA Approval Process
A promising new drug called Nusinersen is currently in phase 3 clinical trials waiting for FDA approval. Families are anxious to have access to the medication because some children have regained the ability to walk while on the therapy. The drug company, Ionis Pharmaceuticals, which is backed by a second company called Biogen, has not moved the drug forward in the approval process since 2014, even though the drug was deemed to be safe and effective. A group of SMA parents called The FAST Movement is currently in Washington, DC hoping they can convince legislators to push Ionis and Biogen to move Nusinersen off the shelf and into the hands of patients like Alexander.
Alexander, who will celebrate his second birthday in August, is already beating the odds for a child with SMA-1. Alexander currently receives regular physical therapy through the WV Birth-to-Three program. Autum refers to the therapists as Alex’s “dates.” Alexander loves the interaction with the therapists. The goal of Alexander’s current treatment program involves preventive therapies to make sure he doesn’t get contractures, where the muscles become permanently shortened and lead to joint immobility. Autum wants to ensure he is as healthy as possible when Nusinersen is finally available.
“Her pain is so much and I hate giving her narcotics, but I am terrified she would be taken from me. It’s a sad place to be when you can’t give your child something that will actually help.” –Rachel, a mother of a child with SMA-1
Autum has a friend named Rachel who also has a daughter with SMA-1. Rachel is using CBD oil obtained from industrial hemp through a company called BlueBird Botanicals. Rachel finds that her daughter has less rigidity and responds better to physical therapy after receiving the CBD oil. Additionally, Rachel has seen a slight improvement in her daughter’s speech as well as in tremors in her hands and tongue. Rachel, who also lives in a state where medical cannabis is not available, wishes she had better availability to legally give her child medical cannabis. “Her pain is so much and I hate giving her narcotics, but I am terrified she would be taken from me. It’s a sad place to be when you can’t give your child something that will actually help.”
Parents Forced to Gamble on Unregulated CBD Oil
While CBD oil from industrial hemp is legal in all 50 states, the industry is highly unregulated. The oil is often extracted using dangerous chemicals that are not completely eliminated in
processing, making it a risk to give to already medically fragile children. Moreover, unless the oil is produced in a state that has specific regulations about laboratory testing, there is no way to guarantee that the oil actually contains amount of CBD that the supplier claims. CompassionWV wants to make sure that no parent has to give their child potentially dangerous medicine because safe, legal alternatives are not available.
Autum hopes that Nusinersen is approved by the FDA in time to help Alexander live a long, healthy life. In the meantime, Autum would also like to be able to give Alexander safe, legally available medical cannabis to improve his quality of life while they wait.
Author’s note: The Johnson family has a fundraiser page at https://www.gofundme.com/uk2auqw to help with medical expenses that are not covered by their insurance.
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