LyRick, a little Vinton resident, is in a fight for his life battling SMA Type 1

An area family battling SMA, Spinal Muscular Atrophy Type 1, was featured in a national story concerning the cost of necessary medication and the prohibitive cost. Spinal muscular atrophy is a result of a single known cause, a protein deficiency called SMN, for "survival of motor neuron." 

The protein deficiency occurs when a flaw is present in both copies of the SMN1 gene, one in each chromosome 5.  Usually, the protein that is made from the SMN1 gene is full length and functional, but with the mutation, there is little or no full-length protein produced.

LyRick, the 20-month-old son of Rani Hopkins and L C Cannady is one of approximately 400 children diagnosed in the United States each year with the disease. Most children do not survive past their second birthday.

Born in November of 2017, LyRick started out under the care of area physician Dr. Maggie Mangold who is part of the Virginia Gay Hospital staff. Noticing in January that LyRick was having problems with the way he was holding his hand, Rani took him to Dr. Mangold. At this visit, it was discovered that he also had an elevated heart rate. 

LyRick was hospitalized and later a neurologist told Rani and LC that their son had "perfect muscle tone" and there is nothing wrong with him.

Currently, LyRick is being treated through the University of Iowa, but Rani credits Dr. Mangold with saving LyRick's life. Rani knew something was wrong and doctors at the University of Iowa said he was fine, but the disease is difficult to peg in just one visit. After returning home, two weeks later Rani said, "My son went from being what neurologists called a perfectly normal child to a limp baby." Dr. Mangold felt it so important for LyRick to be admitted to the University of Iowa, that she made the extra effort to call and be an advocate for his admission, telling his mom Rani, not to take a  "no" for an answer in seeking treatment. 

The doctors were able to diagnose LyRick with SMA and quickly prescribed Spinraza through Medicaid to treat the disease.

"It's been a journey," said Rani, and "Dr. Maggie has supported us through it all."

It is thought that Zolgensma, a treatment that costs $2.1 million dollars could possibly cure LyRick. Zolgensma is systemic gene therapy and the first of its kind that the FDA has approved. While it appears that the drug cures children with a one shot dose, even though the child will continue to carry the gene mutation, it appears to prevent the fatal symptoms. 

With the price tag, it is the most expensive drug in the world. The manufacturer, Novartis AG set the price after it received final approval from the FDA in May. 

As with any new drug, it is an uphill battle convincing insurers that they should provide coverage for the treatment. Unfortunately, for the 400 children, they don't have long to wait for decisions to be made.

The "miracle drug"  according to an article in Bloomberg Businessweek, featuring the family's story, is that there was "potential manipulation of the data" in some of the animal testing. This has resulted in an internal investigation and scientists leaving the company, Novartis. 

The problem leaves children like LyRick unsure of future treatment.

Depending on the insurer, coverage can depend on the approval of the FDA, and some limit treatment only if the child had symptoms before the age of 6 months.

Some parents are willing to risk the new treatment despite the clarity of the results and some have turned to Crowdfunding to cover the 2 million dollar cost.

LyRick's family struggles with the decisions for his care. The downside to accepting the one-time treatment of Zolgensma, is that because there is no data for kids his age and older there is no guarantee that it will last. If the treatment does not work, he would not have access to the drug he is now being treated with, Spinraza, because insurance would not allow him to return to the former drug.

The price tag of $125,000 every 4 months for the rest of his life is obviously not something the family can afford. 

The current treatment of Spinraza requires an injection every 4 months to be delivered in his spine. "Like most kids with SMA, LyRick has scoliosis and his scoliosis is at a 70 degree angle.  The spinal injections are already painful, but it is more painful with scoliosis. Scoliosis could make it much harder to get the medicine in his spine" said Rani.

Spinraza, also a newly approved drug by the FDA as of December 23, 2016, was the only treatment available at the time of LyRick's diagnosis.

LyRick is now able to roll, talk and sit up unassisted. Hopkins said that she's struggling with the decision. Medicaid, LyRIck's medical provider, is unlikely to cover further gene therapy after the age of two. 

The state plans to include testing in the Newborn Screening for this disease, because of the urgency to diagnose the disease quickly in newborns and has begun preparation to do that. Unfortunately, in Iowa, two more babies were born with the disease just in the last year. 

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