As children age out of a coverage for life-changing drug Stiripentol, families desperately seek options

By Vicki Prichard
NKyTribune reporter

Carrie Riehemann and her daughter Ashlee have been down a long and arduous road together, in and out of hospitals, determining a diagnosis, and finding medications that respond to Ashlee’s seizures.

Just when things finally seem on track in treating Ashlee for what was diagnosed as Dravet Syndrome, Riehemann learned that the medication that has been “life-saving” and offered “a better quality of life,” will no longer be covered now that her daughter is 21 years old.

When Ashlee was born in 1996, all was as it should be and she had a normal infancy. But by the time she turned two years old, she began having grand mal seizures.

MRI scans and CT scans were normal, but on Ashlee’s third birthday in August of 1999, she was rushed to Children’s Hospital in Cincinnati with severe myoclonic seizures which produce brief shock-like jerks to a muscle or group of muscles. She was placed in a pentobarbital coma for ten days and her brain flat-lined briefly. There was no evidence of meningitis or any other condition that might have caused the seizures. She was released in October but the seizures had been traumatic.

“She had to relearn how to talk, walk, eat, and potty train,” says Riehemann. “I swaddled my three-year-old, bottle fed and diapered her, while trying medications to control her seizures.”

By December, Ashlee was hospitalized again but, fortunately, the neurologist quickly controlled the seizures.

After a few months of trial and error on different medications, Riehemann, a single parent who worked full-time, enrolled Ashlee in Redwood preschool. The school did wonders for Ashlee.

In first grade, Ashlee was placed on a ketogenic diet, a strict nutritional regimen, which requires several days of hospitalization and education to administer. Everything she ate had to be weighed on a gram scale with specific ratios.

“We tried our best to keep her in school and inclusive in age appropriate programs,” says Riehemann, who lives in Florence. “Yealey Elementary was an awesome elementary school, doing their best to accommodate her needs. Ashlee was allowed to nap and take breaks as needed for her health.”

The diet worked for a while, but as Ashlee got older, it caused other health concerns and she was taken off the diet after two and a half years.

“She had been on over ten anti-convulsants, and even more combination multi-therapy anti-convulsants failed, and the gap of age appropriate activities widened as she got older,” says Riehemann.

Middle school and high school were difficult. Riehemann says they tried a modified ketogenic diet but at the same, health issues emerged, plus, she says, it widened the gap between Ashlee and her peers as she was unable to enjoy many of the foods her friends were able to eat.

After years of intractable epilepsy, including, but not limited to, staring spells, muscle contractions, eye rolls and flutters, head drops, sensory seizures, and catemenial seizures, Ashlee was diagnosed with Dravet Syndrome.

Dravet Syndrome was first described in 1982 by French physician, Dr. Charlotte Dravet. It is a rare, lifelong form of epilepsy that begins in the first year of life with frequent and/or prolonged seizures. Previously known as Severe Myoclonic Epilepsy of Infancy (SMEI), it affects one in every 15,700 individuals, 80 percent of whom have a mutation in their SCN1A gene. While seizures persist, developmental delay and abnormal EEGs are often not evident until the second or third year of life.

According to the Dravet Syndrome Foundation, current treatment options are limited, and the constant care required for someone suffering from Dravet Syndrome can severely impact the patient’s and the family’s quality of life.

One of the more effective medications in the treatment of Dravet is Stiripentol.

The Dravet Foundation website describes Stiripentol, which is not FDA approved, as an effective and well-tolerated therapy that markedly reduces frequency of prolonged seizures in Dravet syndrome.

At this time, Stiripentol is available only in Europe, Canada, and Japan, which means families in the United States have to pay cash for it to be shipped to their household from abroad. The cost can be as high as $1,000 for a month supply. Suffice it to say, families are in a tough place when trying to find some of the few treatments for Dravet that actually help.

Ashlee was able to get on Stiripentol through Kentucky Medicaid’s Early and Periodic Screening, Diagnosis and Treatment (EPSDT), a federally mandated Medicaid program for children.

While Riehemann, like so many other parents of children with Dravet, has health insurance through an employer, most insurance companies do not cover Stiripentol, a costly medication, so state Medicaid coverage makes the life-changing drug possible for families.

While the medication is not FDA approved, Ashlee’s doctor is licensed to prescribe Stiripentol. Not only is the medication effective, but it also lowers other health care costs, says Riehemann.

“Prior to this medication, she was on a three-combination anti-convulsant regimen,” says Riehemann. “We have now been able to reduce and/or eliminate several medications and, as my mom says, “Her little brain is awake again.” The improvement has been life-saving many times over.”

Because of Stiripentol, Riehemann says Ashlee is more alert, more aware of her surroundings, and reading at an age appropriate level.

“Her seizure activity went from hundreds of seizures a day to the very best EEG results she has ever received,” says Riehemann. “There is no doubt this medication has allowed Ashlee a better quality of life — less emergency room visits, rescue medication administration, and she has gained some independence I was fearful of her never being able to obtain.”

Now that Ashlee is 21 years old, stiripentol will no longer be covered by Kentucky Medicaid. As a result, she, and many others, will not be able to afford the life-changing medication.

“We will be forced to go back to some of the anti-convulsants that made her lethargic, agitated, irritable, depressed, and less seizure control,” says Riehemann.

Beth Fisher in the Communications Office of the Kentucky Cabinet for Family and Health Services, stated through an email message that:

“Stiripentol is not yet approved by the FDA for distribution in the United States, and as such, is not covered under the Medicaid Out Patient Pharmacy benefit.  However, Stiripentol is covered when medically necessary under the Early and Periodic Screening, Diagnosis and Treatment (EPSDT) benefit.  EPSDT is a federally mandated program that requires the state to cover all medically  necessary services for children under the age of 21.  Once a recipient turns 21 years old, they age out of the EPSDT benefit and services including medication fall to what is covered in the Medicaid State Plan.”

Prescription drugs are listed as “optional services” covered under EPSDT.

Each state has the authority to determine what is and is not medically necessary and Kentucky previously determined the necessity of Stiripentol for the treatment of Dravet syndrome.

Parents of children with Dravet are wondering why this drug, which is the only drug specifically for this catastrophic syndrome, and which published medical studies have shown is beneficial for adult patients, would no longer be covered.

A recent article auditing the use of Stiripentol in adults with Dravet noted that the syndrome is increasingly recognized in adults as more children are now surviving into adulthood.

Riehemann says her next step is to file an appeal and wait for a hearing, bus she says time is of the essence.

Like many families, Angie Mimms, of Florence, whose 19-year-old daughter Anna has Dravet, tried everything else before Stiripentol.

“When you hear about this medication that you have to get from France, that’s not covered by insurance, and that’s really expensive, you try everything first,” says Mimms.

Dravet is considered one of the most pharmacoresistant epilepsy syndromes, which simply means it is difficult to treat with pharmaceutical drugs.

“As a rule, the three medicines that help with Dravet are either Depakote, Clobazam, Stiripentol, or Topomax,” says Jennifer McMahan, of Lakeside Park, whose 17-year-old daughter Melorah has Dravet.

“We tried Depakote but couldn’t do it,” says McMahan.

Mimms says Anna was unable to use Depakote as well.

“It suppressed her bone marrow,” says Mimms. “The doctor said, “If I didn’t know she was on Depakote, I would think she had leukemia.”

Like Riehemann, both Mimms and McMahan have family health insurance, but neither covers Stiripentol. Medicaid has made it possible for their daughters to take the medication and, again, as with Riehemann, have noted life-changing effects. They too are worried about its continued availability for their daughters.

McMahan says instead of Melorah requiring hospitalization every six to eight weeks, that she’s only been hospitalized a few times in the last year.

Mimms says the year before Anna received Stiripentol, she had more than 428 tonic-clonic seizures, or grand mal seizures, which involve loss of consciousness and violent muscle contractions.

“She would either be recovering from seizures or having seizures — 428 out of 365 days,” says Mimms. “We started Stiripentol and it went down to 125, then it went down to 42, then it went down to 36; what a difference, not just for Anna’s life, but for my boys, my health, my husband’s ability to work. It’s huge.”

Mimms says Stiriopentol increases the effectiveness of the other drugs that are generally on board with Dravet, reducing costs and there’s the cost savings of fewer hospital stays.

“It reduced the other medications by about a third,” says Mimms.

A recent peer reviewed study in the journal Epilepsia showed that Stiripentol use reduced the frequency of ER/hospital visits for those children with Dravet syndrome who had four or more visits the previous year.

Without insurance, the cost of the medications necessary in treating Dravet are daunting.

“Currently, the monthly total, if we didn’t have insurance would be $3,822.48,” says McMahan.  “That number does not include Stiripentol, nor does it include the other medicines she takes to counter balance the side effects of the seizure medicines.”

Because of Stiripentol, both Anna and Melorah have not only seen their health improve but they are learning and engaging in life. Mimms says from the years between kindergarten and seventh grade, Anna really didn’t learn anything. The schools were great, she says, and she homeschooled for awhile, but she just wasn’t learning until Stiripentol.

“Anna started learning again after Stiripentol had been on board awhile,” says Mimms.

McMahan says Melorah now enjoys creating pottery.

“That’s the difference,” says McMahan. “She’s able to throw pottery on the wheel because she’s not having any seizures. It’s such a world of difference.”

For Mimms and McMahan, starting the conversation to keep Stiripentol covered by Medicaid beyond the age of 21 is critical; for Riehemann, it’s imminent. Their children’s health and quality of life has been redefined by the drug.

Riehemann says she’s considered medical marijuana as an alternative.

Colorado has become a place of hope for many parents who are trying to keep their ill children alive or help them improve or maintain a quality of life through cannabidiol, or CBD. It is infused into a cooking oil, like safflower or olive oil, and is administered by squirting it under the children’s tongue, mixed in food, or given through a feeding tube.

With time of the essence, Riehemann has now launched into action with more immediate measures as a veritable warrior for her daughter’s health. She has contacted an attorney and has also reached out to state legislators, and the Epilepsy Foundations’ director of advocacy.

“I have requested an emergency 90-day supply until the appeal has been processed.  I was told there was not enough evidence/research supporting adults using this medication,” she says. “I have contacted a very kind attorney that will hopefully be able to assist in the appeal and getting the appeal under urgent consideration.”

Contact the Northern Kentucky Tribune at news@nkytrib.com