Destiny has had this syndrome all of her life, but it wasn't until recently that it began truly impacting her health and her daily life. Unlike Classical Dravet cases, Destiny had mild clinical symptoms until she was four years old. She is considered to be on the Dravet Spectrum, but as of last week, we were 'assured' Destiny genetically and clinically has Dravet Syndrome. Basically, even though her younger years were impacted minimally compared to infants and tots with Classic Dravet Syndrome, she has clinically met the mark for "Dravet Alarm" and there's no longer room to deny it, and we must accept and act now.
You see, Dravet Syndrome has only relatively recently been identified as a distinct syndrome, and they are learning more and more about the SCN1A gene and it's mutation effects all the time.Now research confirms that if the genetic abnormality is present, and there are mild clinical symptoms in a child's early years, that that said child will likely reach a point where the symptoms become rampant. There are so many people with intractable epilepsy who have this syndrome but have not had the proper genetic test which would diagnose them. Fortunately, that is slowly changing. It's estimated that one baby with this genetic abnormality is born in the United States every single day.
Dravet Syndrome may be considered 'rare' today, but I have a feeling that will not be the case in coming years, when this SCN1A genetic test is standard for children and youth with difficult to control epilepsy.
There is no cure for Dravet Syndrome and Destiny will never out-grow her seizures.
Dravet Syndrome was first described by French physician, Dr. Charlotte Dravet in 1978. Children with Dravet experience almost every type of seizure known. The first seizure usually occurs in an otherwise normal, healthy infant before one year of age and is usually associated with fever. Seizures then occur without fever, eventually becoming frequent and resistant to treatment. They also tend to be prolonged, lasting more than 5 minutes. Prolonged seizures may lead to status epilepticus, a medical emergency. Status epilepticus is defined as a seizure that lasts more than 30 minutes, or seizures that occur in clusters, one after another.
Children with Dravet Syndrome are likely to develop other complications. Developmental delays may or may not include regression or loss of developmentally attained skills. Children may be delayed or impaired in speech, exhibit autistic- like behaviors, or lose their ability to control movement (ataxia). Children may have difficulty sleeping, be prone to infection, or become sensitive to temperatures, visual patterns, and environmental lighting. The degree to severity of these delays has a direct correlation to the intensity and frequency of seizures. Children with Dravet generally have shorter lifespans.
To date (9/21/11), this sweet child of mine has five seizure types that we know of -Tonic Clonic, Complex Partial, Atypical Absence, Absence and Myoclonic, all of these complimented by clusters. Over the summer, and until a recent common cold, Destiny's seizures were controlled during the day with medication and the Ketogenic Diet. (Nights were still a bit rough). A three day cold spun Destiny's seizures out of control, introducing Partial Complex Seizures as well as Atypical Absence Seizures to the mix, and many very scary status seizures. Complications have been exasterbated, especially relating to developmental regression hit hard...and may be most difficult, for me, as a mother to see. These hard times didn't go away with or weeks after Destiny's illness.
Destiny's Neurologist is confident that Destiny needs to start on the only Dravet-specific drugs available, Clobazam and Stripentol (STP). Neither are FDA approved, but have been successful in treating Dravet patients in the European Union for years. They are both available in the US as "orphan drugs". People with rare, life-threatening diseases can import medications that are not approved by the FDA into the U.S. on a compassionate use basis.
Even though Clobazam and STP are not FDA-approved (because the research and process for approval is extremely expensive and intensive), many states have found ways to purchase them for children on Medicaid, due in large to massive amounts of advocacy and persistence of parents in those states. I will post a list of states that pay for the necessary drugs as soon as possible. I think you will be surprised at how many states are already on top of it - I am! (It sucks that if we lived in Utah, where Destiny and Benny were born, that I wouldn't be able to get the personal assistance that I need to survive and parent my children, but my daughter would receive the life-saving medication that she so desperately needs.)
Again, Colorado Medicaid has agreed to pay for Clobazam and STP, but they are stuck on creating a process to do so. As with most things like this, Colorado is sure they can find a better way to purchase the drugs and refuse to follow what other states have done, leaving kids like Destiny to deteriorate or placing the hefty financial burden on their families.
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