Friday, February 09, 2007

Toddler suffers from rare seizure disorder

"My son, Bryant is almost three years old. He has a rare genetic mutation called Dravet syndrome. It's also known as Severe Myoclonic Epilepsy of Infancy (SMEI).Bryant does talk, but his speech is about six months behind. He doesn't like taking his medications. I don't think he understands as yet how sick he really is. Experts say there in no known cure and that he will never outgrow this syndrome.

Bryant cannot tolerate any heat or temperature changes; for any variation in temperature - from bathwater to outside heat - throws him into a seizure. He can't be exposed to germs either, because secondary infections could mean more seizures for him. He really is a courageous little boy. He's been through so much in his young life.We live in the small Southern Illinois town of Carmi. It takes us an hour to get to a hospital, since Carmi has no hospital. In the beginning, we used to call the ambulance, but don't bother with that anymore.

Every time Bryant has a seizure, we give him his medication, put him on oxygen, get into the car and start driving towards Evansville, where the closest hospitals are.We are also members of the Air Evac Lifeteam and they have landed their helicopter right in front of our house on at least two occasions. I'm a nurse by profession and have performed CPR on my son five times till now. It's a terrible feeling when you have to do CPR on your own child.

Everyone tells us we need to live in a bigger city, where we are closer to medical help. But it's not easy to move; to uproot yourself from your home and family. What about jobs and money?"How it all started"Bryant was born on April 14th, 2004 with pneumonia in both lungs. At that time they said it was something to do with C-section babies. So he spent his first five days after birth in the Neonatal Intensive Care Unit fighting off the pneumonia.

When Bryant was just three months old he experienced his first seizure. I was giving him his bath at the time. Suddenly his eyes rolled backwards, his lips turned blue, and his arms and legs began to jerk uncontrollably on the right side of his body.I panicked. I thought it was a stroke. We rushed him to hospital and were then transferred from the Evansville hospital to the bigger, St. Louis hospital. After conducting several tests, which all came back normal, the doctors admitted they couldn't find anything wrong with him.

They said perhaps the seizure was just a fluke and maybe it would never happen again. They sent us home.About three weeks later, Bryant had his second seizure. This time it lasted 25 minutes. He was started on Phenobarbital - an anti-epilepsy medication. The doctors said it was the safest medication to use on infants.A month went by and Bryant had his third seizure. After this, it started to happen more and more frequently.

The seizures increased in frequency, from the time he was three months old till he was about a year old, until they became a weekly event. It definitely seemed to be getting worse.When Bryant was 13 months old, he had a seizure that lasted two hours and 45 minutes. He quit breathing on his own and had to be put on life support. He was declared status epilepticus, which basically means it's a life threatening condition in which the brain is in a state of persistent seizure. The doctors just could not get the seizure to stop and he eventually quit breathing.

However, he did make it back to us and he has made it back many times since then.It was at this point that we decided to take him to the Mayo Clinic. We stayed six days at Mayo and they finally told us he had intractable epilepsy. They said, it could not be treated, he wasn't a surgical candidate and it was all just a matter of adjusting his meds.We brought Bryant home. But his seizures continued. When he was about 18 months old, he had another static episode. We took him to another doctor in Indianapolis, who changed his meds all over again.

Then his seizures started happening daily, 2-3 times a day. He's had so many seizures to date, that I have all but lost count."Finally a diagnosis"At this point in time the lady I worked for at the Egyptian Health Department made a call to Chicago and they asked me to bring him in right away. We'd taken him to St. Louis, to the Mayo Clinic, to Indianapolis and were now pinning our hopes on Chicago. It was June of 2006, when Dr. Linda Laux - a specialist in pediatric epilepsy, from Children's Memorial Hospital in Chicago - finally met Bryant.

It only took her 45 minutes to reach a diagnosis. Bryant had SMEI-Dravet Syndrome, she said.Apparently there are less than 500 confirmed diagnoses of SMEI-Dravet syndrome in the world. SMEI stands for Severe Myoclonic Epilepsy of Infancy. It's also known as Dravet syndrome, after Dr. Charlotte Dravet, a French psychiatrist and epileptologist, who first described it.It's basically a progressive disorder caused by a genetic mutation.

Typically kids start intellectually on target, but start having every type of seizure there is and progressively become developmentally delayed and regress in terms of acquired skills. Many with SMEI are non-verbal, non-mobile and severely retarded before puberty.Bryant was taking seven anti-epileptic meds every day at the time of his diagnosis. Dr. Laux, who is supposed to be the US expert on this disease, started him on Frysium and took him off several of his old meds.Now Frysium comes from a foreign country and is not FDA approved.

Hence our insurance won't pay for it. Yet Frysium is like a miracle drug. Ever since Bryant started taking them, he hasn't had that many seizures."Changing our lifestyle"In addition to Bryant, I also have an 11-year-old, Chantele. She's very healthy, very active and is a cheerleader. She's a big help with Bryant. Yet I know it's tough on her, since we spend so much time hovering over our sick child.I work seven hours a day, as a nurse at the Egyptian Health Department. They are very good at understanding what I'm going through. My mother-in-law, who is a retired school teacher, trained in CPR, looks after Bryant, when I am at work.

She calls if he's having a seizure. My husband Jason is a coal miner.We have an online support group that helps us a lot. We've all had our moments of despair and panic attacks. But it's a matter of learning to accept the situation and dealing with it.It's true that we've changed our lifestyle considerably. Though we are essentially outdoor people, most of our summers are spent indoors now, because Bryant needs air-conditioning; otherwise the temperature change can throw him into another seizure. We find things to do that don't cost too much, because we know we need to save for Bryant's medical expenses.

You just learn to deal with it.We don't really want to leave Bryant alone for even a moment. But we need to work to bring the money in. So it's a catch 22 situation of sorts. For example, we recently paid $5,000 for blood work to check for a missing chromosome. The results showed that part of Bryant's chromosome is missing the SCN1A gene."Ever hopeful"I went to a conference sometime ago and met the famous Dr. Dravet herself. She told me to be optimistic and hopeful. She said if seizures are controlled the likelihood of Bryant having cognitive problems as an adult are less likely. She stressed the importance of Bryant staying in therapy and the need for his mind to remain active.It's so important to be an advocate for your child.

If in doubt, always get a second opinion. I knew in my heart that something was really wrong and kept pushing for a diagnosis. Doctors thought I was crazy.I have gone to battle with so many healthcare facilities. But it was my child's life at stake and I wanted to do the best for him. If there was enough money to push Dravet Syndrome-SMEI, we would be closer to a cure today; closer to helping children like Bryant lead a more normal life."The Trust Fund"Our greatest fear is that we will be sleeping and Bryant will have a seizure in the middle of the night and we won't wake up in time to help him. That's why having a seizure dog is crucial.

A seizure dog is not only a companion, but is also trained to pick up on a pheromone scent and alert us if Bryant has a seizure.To help pay for a seizure dog, we set up a Trust Fund for Bryant at Banterra Bank, in Carmi, sometime ago. We managed to reach our monetary goal due to the generosity of people who contributed to the fund. The dog is now in training and will be with us very soon.Right now, Bryant has about a 30% delay in speech. At present he's in the early intervention program and therapists come home to work with him.

Currently, he is in speech therapy, physical therapy, occupational therapy, developmental therapy and Hippo therapy.Bryant absolutely loves the Hippo therapy, donated by a lady, where he gets to ride a horse to improve balance and coordination. I want to get him into aqua therapy. We're hoping to put in a pool so he can use it for that purpose.But in April 2007, he turns three and won't qualify for these early intervention services anymore. At that point, I will need to drive him back and forth for all his therapies and pay for them out of my pocket. That's why we're hoping people will continue donating to Bryant's Trust Fund - so that it can help pay for his medications, therapy and other medical needs."

How you can helpIf you want to help make a difference in Bryant Weasel's life, send in a check addressed to the Bryant Weasel Trust Fund, at Banterra Bank, 1310 West Main Street, Carmi, IL 62821."No contribution is too big or too small," says Amy.

"Bryant will need special care for the rest of his life."If you would prefer sending a check to Amy directly, contact her at or write to us at the Southern Health Magazine, 710 North Illinois Avenue, Carbondale, IL 62901 and we will forward your letters to her.For more information, visit - this is the website Amy's created for her son Bryant.


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