Lilly

Lilly Talks About Epilepsy

The Journey to a Diagnosis

Lilly was born on November 26, 2004.  She was diagnosed with Dravet syndrome at age 13 months.  Strangely, when she was 2 days old Michelle had a feeling that something was wrong, a feeling of impending doom.  She called Tim from the hospital and told him this, and that she felt like Lilly was going to die.

Tim thought that this was quite irrational considering Lilly was a full term, healthy baby with Apgar scores of 9/9.  He thought Michelle might have post-partum depression.  So did their good friend who happens to be their doctor. . .

Lilly’s first seizure was a very strange seizure that presented at age 5 months after Michelle took a walk with another good friend on a warm day (May 12, 2005).  The seizure lasted more than 20 minutes and was a staring spell.  Not knowing what to do, Michelle rushed Lilly to the pediatrician with her neighbor driving.  Tim came directly from his office.  No one else witnessed the seizure.  Post-partum depression, perhaps?  . . .

Lilly was having what Michelle thought might be a seizure type called a “myoclonic jerk” after the first event, which was dismissed by the pediatrician who saw her as simply a “spell”.  She was reassured by the doctor that healthy five month old babies didn’t have those seizure types.  Still, she insisted on an EEG, which was normal.  No one could see the jerks, but Michelle could feel them when she held Lilly.

Lilly’s first “grand mal” seizure, which lasted 15 minutes and was stopped in an ambulance by rectal administration of Valium, was far more apparent than the other more subtle seizures.  This seizure also was temperature induced, because the family had ridden in a hot car in July from a legal conference Tim attended.  Interestingly, Michelle met a pediatric neurologists on the beach.  This doctor was the wife of a lawyer at the conference, and ironically, had done a presentation for her practice the week before on “Rare Myoclonic Epilepsy of Infancy”.  Michelle told this doctor she was suspicious that Lilly was having myoclonic seizures and may have epilepsy.  The doctor replied “If it is epilepsy, it will present itself”.  She also gave Michelle her business card.

Lilly’s 15 minute episode occurred the very next day.  At first, the ER doctors told Tim and Michelle Lilly had a brain tumor based on cat scan results.  Michelle was not allowed to nurse until an MRI could confirm the size and location of the tumor as brain surgery would be scheduled for the following morning. Little did we know that a diagnosis of a brain tumor could have been more benign than her ultimate diagnosis of Dravet syndrome . . .

I contacted the child neurologist from the beach from the hospital and asked her to send me her presentation.  I felt ill when I read that Lilly could possibly have a potentially malignant, neurodevelopmental disorder such as Dravet syndrome.  I could not stand the thought of my healthy, precocious child becoming developmentally delayed or unable to walk right before my eyes!  This was devastating to imagine . . .

She was hospitalized again in July (ICU), August, September, October (ICU), and December of 2005 for prolonged seizures or life-threatening status epilepticus (seizure lasting > 30 minutes).  The seizures lasted from 15 minutes – 47 minutes and all had to be stopped emergently with rectal and/or IV medication.  She had myoclonic jerks during this period ranging from 5 – 1500/day.  She failed many drugs including phenobarbital, Keppra, and Depakote.  We administered rectal valium frequently to stop the myoclonic jerks and seizures.  The rectal valium did not always stop the other seizure types or status epilepticus.

After three months of begging the neurologists to test her for Dravet syndrome, they finally agreed.  This was after we were told her diagnosis was “atypical febrile seizures” that she would outgrow and live a normal and healthy life by age 6. Lilly was hospitalized during that period for status epilepticus.  All medications were removed.    A very wise, 35 year tenured surgeon suggested at that point we have a port-a-cath placed in her chest so IV access to stop seizures would be permanent.  We were discouraged from doing this by the epileptologists, who gave us the optimistic diagnosis and told us we were making her “sicker than she was”.

A week later, after the temporary IV line was surgically placed and removed, Lilly had another episode of status epilepticus that landed her back in the hospital.  Despite Michelle’s attempts to get someone to obtain IV access, Lilly went all day without access up until the neurology team made rounds.  As Michelle was explaining how important it was to get IV access and how they were just advised not to get a port-a -cath the week before, Lilly started seizing.  Forty -seven minutes later, IV access was obtained by the PICU team through Lilly’s jugular.

The SCN1A test was finally ordered and a port-a-cath was surgically implanted.  She still has the port-a-cath and it probably saved her life.  On Michelle’s request, she was prescribed Topamax and Klonopin, which has completely controlled the myoclonic jerks.

Lilly’s diagnosis of Dravet syndrome was confirmed on January 12, 2006 at 5:20 pm in an after hours, “break the news”  appointment scheduled by  her neurologist , and  as with all of us that share this fate,  our lives were forever changed.  On January 13, 2006, Michelle  began an exchange of e-mails with Dr. Charlotte Dravet  and Dr. Bill Catterall, in a desperate attempt to understand Dravet syndrome and to help  my child.  She asked so many questions, the same questions many of us still ponder, including “Are the developmental delays caused by the mutation, brain cell death, or both? “,  “Could this just be GEFS+, is there a possibility she will outgrow it?” and “Who in this country can help my child?” .  The doctors responded with all sincerity and empathy that there were no answers to the first two questions, and that there was no crystal ball that would show me how Lilly’s development would be when she turned 5 years old.  So we would just have to wait and see.    Dr. Dravet also quipped that whoever figures  these questions out will win the Nobel Prize.

Mother with a Mission

Since that day, Michelle made it her mission to do all in her power to help answer these questions, for Lilly and for all of her peers who suffer  from this rare form of epilepsy that is among the first of the epilepsies to be directly associated with a gene mutation.  This mission expanded as she began to know that 70% of people with epilepsy had no idea what caused it, and without a cause a cure is improbable.  She was happy in that sense to know the specific cause and set out to help find additional causes of epilepsy related to ion channels in the brain.  This led to the founding of ICE.

Finding the Right Medical Team

Dr. Dravet recommended Lilly see Dr. Doug Nordli at Children’s Memorial in Chicago.  He was booked solid for 6 months.  Scared for Lilly’s life, she sought an opinion from another very well known child neurologist.  She packed Lilly and her good friend Gina up and admitted Lilly to a hospital outside of the state for EEG monitoring.  Michelle was surprised when the nurse suggested they were withholding Lilly’s medications – she told him they could not withhold her medications.  She has Dravet syndrome.  She could go into status epilepticus.  She could die.  Michelle began to question if she was at the right center and if these doctors really knew the gravity of this diagnosis.  She gave Lilly her medications and told the nurse she brought video EEGs of Lilly’s previous seizures for the doctors to view.   It was confirmed that they did not understand the syndrome when Michelle was told the diagnosis was wrong and we should repeat the genetic test, even though Lilly had all the symptoms and a DNA confimation. . .

Michelle was, however, able to get Lilly tested for low immunity at this center and started on home therapy with human anti-bodies (IVIG).  We believe this has decreased the severity of Lilly’s illnesses and has served as an anti-inflammatory in the brain after the prolonged seizures.  Lilly has remained on this therapy since age 13 months and gets an infusion every three weeks.

We ended up with Dr. Linda Laux at Children’s in Chicago and she has been an excellent doctor for many children with  Dravet syndrome in the US.  Her group now sees over 100 Dravet patients.  Dr. Laux changed Lilly’s Klonopin to Clobazam which we ordered from Europe.

Treatment & Drug History

She had another episode of status epilepticus on  January 27, 2006  August 2006, November 2006 and  December  2006.   She had fairly good seizure control other than these long seizures that usually occurred right before an illness set in between January 2006 and June 2006.  She had lots of urinary tract infections.  During the long seizure in December 2006 (New Years Eve), she starting having non-convulsive status epilepticus – continuation of the seizure with no movement.  She had to be put into a coma and intubated to stop the seizure.  We noticed stagnation in her development around age 2, which is classic for Dravet syndrome.  Prior to this stagnation we began speech, physical, and occupational therapy, all of which she continues.

We began Stiripentol in addition to Topamax and  clobazam in January 2007.  Stiripentol is also imported from Europe.  She had another episode of status epilepticus in February 2007 and the rectal valium did not stop it.  She ended up in a coma , intubated again.  We ordered another drug from Europe, buccal midazolam (Epistatus).  This drug has saved her life.    She had a complex partial seizure in March and in April of 2007, both of which stopped at home in under five minutes after administration of buccal midazolam.

Lilly continued on Topirimate, Clobazam and Stiripentol during the remainder of 2007 with acceptable seizure control.  She still had prolonged seizures that would lead to status epilepticus but for the drug combination and prompt administration of Epistatus, with a total of 5 such events in 2007.  Often during these seizures that lasted up to an hour, Lilly would experience non-convulsive status epilepticus after the medical team assumed in the emergency room the seizure was complete and she was in a post-ictal state.  Routine EEG testing in the ED is not typical, even for children with known refractory epilepsy.  To prove to the ED physicians that Lilly was still convulsing, we opened her eyelids to show rhythmic eye twitching and un-reactive pupils, then pinched an earlobe to show no response.

During the summer of 2007, Lilly developed eyelid “flutters” which were determined to be myoclonic seizures.  These seizure progressed to a head drop and upper body drop seizure type referred to as an astatic seizure.  The neurologist prescribed Felbatol (Felbamate) for these seizures and Lilly responded with complete seizure cessation.  This drug, which is labeled to be associated with aplastic anemia and liver failure, was added in August 2007, and she was on 4 potent anti-epileptics at this point.

In January 2008, Lilly presented with non-convulsive status epilepticus as her predominant seizure type.  For untrained caregivers, non-convulsive seizures are hard to detect and may be confused with naps.  At the point Lilly developed these hard to detect seizures, we pursued private duty nursing for her care while away from me.   In addition, we pursued private duty nursing to monitor Lilly at night for seizures including non-convulsive seizures while on pulse oximetry.  SUDEP or death from suffocation is more probable at night in children with intractable epilepsies.  Lilly had an anticipated progression of seizure types and frequency during 2008 and had 58 seizures during that year compared to five the year before.  The combination of stiripentol, clobazam, topirimate, and felbamate decreased the duration of these seizures but did not prevent them.

In addition, we initiated the ketogenic diet in May 2008.  We continued this diet through December and opted to stop the diet since it provided minimal benefit at that time.   Lilly experienced severe metabolic problems including high ammonia, triglycerides, LFTs and hepatomegaly while on the diet.  Depakote was added around this time, slowly, and Lilly had very high ammonia levels until the Topamax was weaned.  She had fairly good seizure control aside from the eyelid flutters.  Adding Zarontin to her stiripentol, Depakote, clobazam regimen helped.

Lilly has remained pretty stable with this drug regimen, and her learning has improved. She had two additional episodes of status epilepticus in the fall of 2008 and in January 2009. She still has seizures, mostly in her sleep, about every 7 – 10 days.  We give Epistatus to avoid hospital visits.   At age 5 and a half, she tested developmentally two years behind.  We are hopeful that the new technology surfacing and the compound ICE is investing in will be the answer for Lilly and her friends and will change her life.

A Common Occurrence

Lilly getting blood drawn for anti-epileptic drug levels