My niece Alexis (on right) has Dravet Syndrome, a rare form of epilepsy, that first manifested itself when she was just a few months old. My brother and sister-in-law have lived through countless episodes in which she was at death's door, gripped by catastrophic seizures.
Alexis is six now and has severe developmental delays, and yet she is always busy putting together puzzles and practicing her words and making good strides. She's the sweetest little girl EVER.
Life in the dark: A Northampton couple's desperate attempt to save their daughter
Kerim May, Gayla Berry and their 2-year-old daughter, Talia, live in the dark.
The lights in their Northampton townhouse are almost always off and if the couple takes their toddler out, it's usually at night.
Talia, who looks like a pixie -- petite, with liquid brown eyes -- is acutely sensitive to light. The briefest exposure to it can trigger a seizure which can range from a sudden momentary loss of consciousness to full-body convulsions.
She has Dravet syndrome, an extremely rare form of epilepsy with a cruel prognosis.
Children who survive the seizures during the most difficult years -- ages 2 through 5 -- have "a very poor" outlook in terms of mental development, says Dr. Blaise Bourgeois, director of the Division of Epilepsy & Clinical Neurophysiology at Boston Children's Hospital. "About 50 percent will have an IQ of less than 50 by the age of 10 years."
May, 39, and Berry, 40, live day to day trying to stay ahead of the escalating fear that the next major seizure Talia suffers will be a catastrophic one that could leave her with brain damage or even kill her.
"You don't know which one is going to require which medication, which one is going to require which kind of intervention," says Berry. "You always have to be alert and ready for any of the possibilities."
In addition to light, any change in routine, visual patterns or temperature can trigger a seizure as can illness and stress, and so the couple tries to maintain as controlled an environment as they can. They seldom have visitors and ask family members not to bring gifts for Talia to avoid exciting her.
They rarely go out together, and when they do take their daughter for a trip in the car, they tape sheets to the windows to keep the sun out. Sometimes, if she is having a good day, they take her to the park -- at night.
May often wishes a child neurologist would spend a weekend at his house. In his fantasy, the doctor would watch his child's every move as closely as he and his wife do, scrutinize the medication plan she is on, give them advice.
But that's not likely to happen. So, instead, May and Berry continue to consult specialists and other parents of children with Dravet syndrome, keep their own meticulous records, and read as much as they can find on the illness to piece together a plan to minimize their daughter's seizures. In this way they hope to beat the odds that she will end up mentally or physically impaired.
*****
First described in 1978 by the French neurologist Charlotte Dravet, the syndrome, also known as severe myoclonic epilepsy of infancy (SMEI), is a progressive childhood disorder characterized by severe epilepsy that does not respond well to treatment. With about 1 in 20,000-40,000 children born with the genetic mutation that causes it, Dravet syndrome is an "orphan disease" that is not yet understood, doctors say.
Talia began having seizures when she was several months old. A seizure is not an uncommon childhood reaction to a high fever. But for a child with Dravet syndrome, seizures keep happening, increasing in frequency and intensity. By the second year of life cognitive and developmental delays almost always become apparent, according to information supplied by the International Dravet Syndrome Epilepsy Action League (IDEA League), a parent advocacy group.
The child may lose the ability to talk and may develop ataxia, which causes him or her to walk like a drunk. There may be sleep and digestive disturbances, which Talia has had her whole life, orthopedic and behavior problems, autism.
Some children must be fed through gastric tubes, wear braces to support weak ankles and knees or use wheelchairs. Since a change in temperature either in the environment or caused by a fever can trigger a seizure, many families spend the entire summer indoors.
Dr. Linda Laux of Chicago, a neurologist and assistant professor of pediatrics at Northwestern University's Feinberg School of Medicine, is one of the few neurologists in the world who specialize in Dravet syndrome. She says there is much to learn about the effects of Dravet's seizures and the way the disease progresses in children.
"It is still really unknown why they have this developmental plateau or regression, therefore it is unclear whether we can affect it," she says. "Our hope is we can."
As a result, the focus is on diagnosing children as early as possible, she says, and working aggressively both to control their seizures and to provide developmental and cognitive therapy aimed at maximizing their potential.
*****
Talia, whose seizures land her in the hospital about once a month, has so far met all of her developmental milestones -- walking, talking, thriving.
One late afternoon in October, she was having a good day as she sat at a child-size table eating peanut butter and chicken in the dusk. The living room smelled invitingly of roast chicken and vegetables; tightly drawn shades kept the brilliant fall day at bay. A backpack filled with things she would need if she had to be rushed to the hospital was propped near the front door, as always. Berry bustled about tending to her, preparing her food, her medicines, while May sat nearby, watching his daughter's eyes intently.
One or both of them is always watching Talia's eyes. That's where the signs of her seizures start. The attacks begin as small "absence" seizures, during which Talia appears to space out or freeze. Her head may jolt as if she is receiving electrical shocks.
If the absence seizures begin to multiply, Berry and May have to make quick decisions. Should they give her Ativan? A potent medication, it belongs to a group of drugs called benzodiazepines which may cause liver and kidney damage. But Ativan can also prevent the absence seizures from graduating to convulsive ones which can result in brain damage or even death.
"There are no right answers," says May. "There are probabilities. It's all trial and error."
Talia might be playing and laughing one moment, and then be stiff or writhing on the floor the next, with one parent rushing to give her medication while the other one dials 911.
Although controlling the seizures is regarded as the route to more normal cognitive development, doctors say studies show that most children with Dravet syndrome will have some cognitive delays anyway.
They're discouraging statistics, to be sure. "We are living with some denial," says May.
And they know that death can strike at any time. Just the other day, they learned via the Dravet parents group Web site (www.idea-league.org [1]) that a 4-year-old girl had suffered a fatal seizure.
"When Talia has a down day, it's like is this the start of the catastrophe?" asks May.
But this afternoon, Talia seems fine.
Berry joins her at the toy barnyard on the carpet where she is playing with a plastic pig. She loves animals, and her parents have assembled a collection of them. The space between the couch and the wall is a "secret passageway," three boxes form an obstacle course in the middle of the room and a play house made from a stove-size box is at the foot of the stairs. Berry and May try to make their small townhouse as interesting for their daughter as possible.
"More dinner," Talia says, gaily jumping up and running back to the table. She wants to feed the pig and that provides an opening for Berry to suggest that Talia have a bit more peanut butter and chicken, too. Getting her to eat enough to maintain a healthy weight is a constant challenge, her parents say.
Talia takes a bite.
"It's amazing, the power of suggestion," says Berry, clearly pleased.
*****
May was in his basement one morning in mid-November, taking stock. He was surrounded by bicycles, exercise equipment, a couch, a computer and shelves of thick spiral notebooks filled with pages documenting Talia's daily medicines, as well as the number of attacks she has had. Some days she has dozens of absence seizures. There are doctors' reports of her hospital visits.
A little apologetically, he flips through hundreds of photos of Talia on the computer. The top of his daughter's head is wrapped like a mummy in some of them, as she is hooked up for a brain-wave scan. In others, she's wearing the tiny sunglasses she dons for the occasional trip outdoors. In one, she's sitting in an armchair with another little person who's a family friend.
May says that if he had realized his family would be spending so much time indoors, he would have bought a larger place. "I would have overextended and been one of those people who got a bad mortgage," he said.
In the inner recess of the basement, Berry has created an art studio for Talia, decorated with her watercolors. May plans to turn the area into an indoor playground for his daughter, although an observer might wonder where he would get the energy to do it.
He is senior regulatory counsel for ISO New England in Holyoke, and Berry is a teacher who is not working now so she can take care of Talia. They're an attractive, articulate couple, but it's apparent that living with Dravet syndrome is taking a toll. Like Talia, they're sallow and have circles under their eyes, especially Berry. A mountain bike enthusiast, she hardly ever gets to ride outside anymore, so she rides her bicycle on rollers in the basement.
Since Talia has always been a fitful sleeper, Berry and May say they are lucky if they get six hours of interrupted sleep a night. If May goes on a business trip and gets a full night of sleep in a hotel, it just makes him feel worse, he says. It's as though his body has gotten used to less sleep.
Living in the dark as they do, there's nothing differentiating the days and the nights, weekdays and weekends, May says. It's harder to do routine chores: Berry has taken to preparing meals with a flashlight.
Just keeping up with Talia's medications is a challenge. All told, she takes 19 doses a day of potent anti-seizure drugs, an appetite stimulant, something to help with her digestive difficulties, and vitamins. "Sometimes I feel like I chase her all day with an eye-dropper," says Berry.
Talia has a local pediatrician, Dr. David Steele, and has recently begun seeing Dr. Richard Morse, a child neurologist at Dartmouth-Hitchcock Medical Center in Lebanon, N.H. Morse, who now has about a half dozen patients with Dravet syndrome, is optimistic that recent advances in understanding the condition will lead to better treatments.
"They're doing an incredible job," Morse said of Berry and May in a telephone interview, "really exhausting every avenue in terms of trying to help control the seizures and track her progress and development and preserve it.
"I think it's a wonderful testimony to what part of the team parents can play and how important it is to have a team when you're taking care of a person with epilepsy," Morse continued. "I can only provide some part, the family and other caretakers do most of the work and certainly do most of the suffering in terms of stressing out about this."
Berry and May never let Talia out of their sight or leave her alone with another person, so the two of them are never alone with each other.
To cope, they say, they try not to think too much about how they live.
"I think you function, but at the most basic level," says May. "It's hard to function at a competent level. Living like this while trying to deal with something so dire is rough."
They just keep their focus on controlling the factors that spark her seizures.
"Our big dilemma now is do we chase better seizure control? But the side effects can be dire and can stunt her development," says May. "Should we restructure her medications? Now we're thinking, she's a smart, happy kid, let's not mess with that. But you don't know if she's heading for a catastrophe."
They wonder sometimes whether they have the strength to continue on as they are.
"Honestly, I don't know how long we can hold out," says May. "We take turns being in a deep depression and being the stable one. The odds don't feel particularly good that we're going to live a carefree life at some point."
*****
One day in November Talia appeared to be doing so well that Berry decided to take her out to Amajoy, an infant therapy center on Main Street in Florence, to see Lenore Grubinger, who works on increasing children's strength through movement. Berry and May say Grubinger has helped Talia. It was the therapist who first suggested that they encourage Talia to draw and paint early.
The car trip, though, turned out to be harrowing as Berry, constantly checking on Talia in the rear-view mirror, noticed her daughter's head jerking with absence seizures.
Driving with Talia is one of the most difficult challenges, says Berry: "It's the place where I'm most uncomfortable being alone with her."
By the time they arrived at Amajoy, Talia looked dazed. But gently, by touching the child, Grubinger was able to bring her back to an alert state.
Parents say that because children with Dravet often seem healthy, those unfamiliar with the condition can underestimate its severity. They say it can be difficult to convince health-care gatekeepers that a child needs occupational and speech therapy.
Grubinger's treatment, which Berry and May pay for out of pocket, is just one of the therapies Talia has gotten since her diagnosis at 15 months of age. She is eligible for some state-subsidized and sliding-scale speech and developmental programs for children with special needs. She also receives acupuncture, which is not covered by insurance, but which Berry and May have pursued on their own. They say they are trying to do whatever they can to shore up Talia's skills in hopes of minimizing eventual cognitive impairment from her seizures.
"To be honest, it's always lurking around the corner," says Berry.
*****
Though early diagnosis is considered crucial, even some pediatric neurologists are not familiar with Dravet syndrome and don't recognize its particular seizures and the triggers associated with them. "I would say within pediatric neurology probably about half of people might recognize it," said Morse.
As a result children may be given certain anti-seizure medications that are now known to make the condition worse.
Talia had her first seizure at 9 months old, early in the morning while her parents were still sleeping. Berry woke up to hear her labored breathing. When she tried to wake her up, Berry found Talia unresponsive and partially paralyzed. Five minutes later, however, the infant seemed fine. They brought her to her pediatrician, who, they say, assured them the incident was a benign one. "And it did seem reasonable, even in retrospect," says Berry.
But Talia had a second seizure six weeks later and after a third seizure, say Berry and May, a doctor at Baystate Medical Center in Springfield put their child on an anti-seizure medication not recommended for children with Dravet syndrome.
Because Talia began waking up every half-hour during the night, the couple took her to Boston Children's Hospital for a sleep evaluation. As it turned out, Talia had a severe seizure in the hospital lobby. That, coupled with abnormal EEG results from the sleep study, prompted a doctor there to advise discontinuing the medication Talia was on and trying a different one. He also recommended genetic testing which showed a mutation in the SCN1A gene that contributes to up to 80 percent of reported cases of Dravet syndrome.
Following the diagnosis, Berry and May learned through their reading that children with Dravet syndrome are often sensitive to light. In fact, they say, they had noticed that Talia's seizures were more pronounced when she was outdoors. And so, last August they began staying inside. But, they say, they soon realized they should restrict the light indoors as well. They installed room-darkening shades behind the regular shades in the house. When they bring Talia to doctors' appointments, or anywhere else, they call ahead and ask that a darkened room be readied for her.
*****
Much of what Berry and May know about Dravet syndrome they have learned online and from other families they have met through the IDEA League, founded in 2005 by Dravet parent Joan Skluzacek of Afton, Minn.
"Even with the information, you're struggling," May says. "But the parents group is really a lifeline."
Skluzacek's experience was typical of many Dravet families. Her now 14-year-old son, Nick, was a talkative 2-year-old when he starting suffering severe seizures. He uses a wheelchair now and hasn't spoken a word since he was 6.
Besides compiling the most up-to-date information about the syndrome available, Skluzacek and other volunteers in the league provide an online forum for parents to trade information, advice and support, and another forum for professionals.
The league has also sponsored two international conferences attended by Charlotte Dravet as well as doctors, researchers and families from around the world.
May attended this year's conference, which was held in August in Chicago. He says he found it helpful but also emotionally difficult. While doctors and researchers discussed some of their most recent findings in a sprawling conference room at the Doubletree Inn, dozens of children played in separate rooms upstairs watched over by childcare professionals. In between sessions, children and their parents converged in the lobby. Some of the youngsters appeared to be faring well, others clearly were struggling.
Nick Skluzacek was there with his therapy dog, Ruby, a three-legged Hungarian pointer, who can sense when Nick is about to have a seizure. Ruby alerts his parents, even when they're asleep.
Dravet parents, like May and Berry, are eager to share their stories, hoping that increased exposure will lead to earlier diagnoses and more research. Their greatest wish, of course, is for a cure.
"We already know in the two-and-a-half to three years that the IDEA League has existed that we've been bringing down the age of diagnosis and older children are being retroactively diagnosed," Skluzacek said in an interview during a lunch break at the conference. "I think the key thing is getting the word out. If it's not misdiagnosed, it's undiagnosed. It's a worldwide syndrome."
About half of the families who contact the IDEA League now are referred by their physicians, Skluzacek said.
In one of the final presentations, several parents described their children's case histories in minute detail to a panel of physicians, including Dravet. To a person, they had lived through frightening seizures that brought their children close to death, intervals of comparative good health, and anxiety over which medications to use. Two of the three drugs to treat Dravet syndrome are not FDA approved, so there is the added financial burden for families in the United States who must pay the high prices for them, which can be $1,000 a month.
"It was a pretty sobering glimpse of what we might be in for," says May of the other parents' stories. "We still have hope now that Talia might skate around the edges of this. It was hard in that sense."
*****
A month later, May drove back to Chicago with his wife and daughter, risking three days on the road each way, to meet with Linda Laux, the Dravet specialist.
Laux was able to identify the specific kinds of seizures that Talia has, which is key to deciding which drug or combination of drugs is likely to be most effective.
"If you're not seeing someone who's expert in Dravet syndrome, you can almost be sure they're not being aggressive enough in the treatment," says May.
Laux and her colleagues see only children with intractable seizures, including over 60 children with Dravet syndrome. "Early recognition is really important ... and I think many more people are becoming much more aware of Dravet syndrome and so are definitely looking for it earlier in a child's life," she said in a telephone interview.
The discovery of the genetic origin of the syndrome in the last five or six years was a huge advance, says Dr. Morse, as was being able to get a handle on the physiology, which has to do with the charged particles moving in and out of the body's electrical cells.
While Laux, Morse and Bourgeois agree that reducing the number of convulsive seizures a child suffers is likely to have an impact on cognitive development, what doctors do not know for sure is to what extent children would suffer cognitive delays even under the best-case scenario Berry and May are striving to create. Morse says he attended a meeting of the American Epilepsy Society in Seattle in early December at which Charlotte Dravet said she believes that seizures play a big role in causing disabilities, but may not be the whole story.
Doctors are trying to figure out why some children have fewer cognitive development problems than others. Laux points to a 2006 study published by a team of Australian doctors which looked at adults with Dravet syndrome and found that while the majority had significant problems, a minority functioned at much closer to typical levels.
Still, Berry and May say they have hope. "When something is diagnosed it's defined by the worst-case scenario," says Berry. As time goes on, she says, she expects doctors will find that there is a wide spectrum of severity, as is the case with autism.
In recent weeks, Talia's seizures have gotten worse, but so far she continues to develop as a typical child her age. She turned 2 on Nov. 23. "Shiny New Shoes," a jazzy tune, is her current favorite song and she also likes folk tunes. She's got eclectic tastes. "She loves to hear us sing," Berry says. "She loves to giggle."
In Chicago, the family went to the zoo. "She was fascinated by the animals," May recalled of that happy visit. "But she was more fascinated by the little kids."
Berry and May say it helps to have supportive families and friends. Berry's family, which lives in the Hartford area, drops everything and comes to Northampton to help them in an emergency. And ISO, May's employer, is "pretty exceptional," he says, about allowing him to leave work to respond to an emergency. "As long as I get my work done, they're not so insistent that I get it done 9 to 5." Most of his colleagues have young kids. "They're very concerned," he says.
But it's hard for other people who have not lived with Dravet syndrome to understand it.
Berry knows why. She says even though she used to work with special needs students, she never really understood what it was like for the parents. "Unless you walk a mile in someone's shoes -- which you can't do -- you don't really know what their life is like."
Mary Carey is a Gazette reporter. She can be reached at mcarey@gazettenet.com.
It could be as long ago as 40 years but I remember seeing a program on TV telling about a child that had epilepsy and his seizures were really bad. They had tried everything that was available at the time with no success. They were told by the doctor that there was nothing more that they could do except cut out part of the child’s brain, but there would be no guarantee that the child would live and he might be completely retarded. I remember the name of John Hopkins hospital being mentioned, as my grandmother went there, but I can’t remember if that was the hospital that this doctor was at or if it was the hospital that finally came up with a cure. The worst part is, I can’t remember for sure what the cure was, but I think that it was just extra virgin olive oil or a unsaturated oil. You could at least do some research on this and see if you could find any information relevant to your issues.
ReplyDeleteIf I were in the situation that this family is in I would check the following out: www.knowthecause.com., which says that most diseases are caused by funguses and will also tell you what product really stimulates the immune system. Also Dr Morter, who taught me great thing regarding the acid alkaline balance. (Many say no disease can survive in an alkaline environment). It is talking about the ash that is produced so you will be surprised to know that lemons or apple cider vinegar, which you would think would be acid forming, actually form an alkaline ash. In fact lemons are only second to water melons. The worst acid former is aspartame, which is everywhere. Hulda Clark who has written several books like The Cure for all Diseases, The Cure for Cancer etc. says that all diseases are caused by parasites. You will note that all of these things really co inside with each other, as neither funguses or parasites can survive in an alkaline environment. I would also join Newsmax.com, which emails me health articles every day and right now there is a Free video to watch by Dr. Brownstein about the dangers of our little-known American thyroid epidemic, which is really informative on the thyroid, which has a lot to do with seizures. I would make sure that you avoid anything that had aspartame, monosodium glutamate or high fructose corn syrup in it. If it were my child, I would clean her colon out, make sure she got pro bionics and enzymes and would also get a juicer and have her drink lots of vegetable juices. They say that carrot juice has a close resemblance to blood. Fruit juice is good to, but only in moderation until you can get rid of the funguses and parasites as they feed on sugar. Hope you find an answer. Last but definitely not least. Ask God to guide your way. Claim the blood that Jesus shed on the cross and then stand on his promises and believe without seeing.
Would love to know if you have success.
Luci.nwmt@netsync.net
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