Family Celebrates Small Victories While Dealing with Son’s Genetic Disorder

By Lori George
Special to EpilepsyUSA
Posted: October 31, 2003

There are many families who don't know the cause of a loved one's seizures. Fortunately, we are not one of those families. However, knowing the cause of the seizures only matters if you can stop them. We can't.

I am the mother of a 4-year-old boy. He started having myoclonic seizures when he was just 9 months old.

The cause of Will's seizures is a chromosome disorder. He has 47 chromosomes instead of the usual 46 most people have, and has a duplicate of number 15. This abnormality, for which there is currently no cure, causes seizures, low muscle tone and sometimes autistic tendencies.

Seizures Start as 'Startles'

Will's seizures started out as what I refer to as startles. They weren't long, but they were frequent. Out of nowhere his arm would jump.

When I took Will to the pediatrician, the doctor wasn't immediately concerned. He said they might be infantile spasms that could go away.

But they didn't. In researching Will's chromosome disorder, my husband Patrick and I learned that seizures were common with isodicentric (15). We took Will to see a neurologist.

An electroencephalogram (EEG) did show spikes in Will's brain activity, indicating seizures. He started taking Klonopin and subsequently turned in to a zombie.

His body eventually adjusted to the medication, but at about 1 year old, he started having different, more intense seizures. He didn't just jerk, but his mouth would tremble. This happened several times a day, every day.

About 2 months after his first birthday, we added Tegretol to the Klonopin, but were eventually disappointed. There was no decrease in Will's seizure activity. Because of his low body weight, we couldn't go up on the Tegretol dosage, so we discontinued it after a few hopeful months. We replaced it with Depakote.

Meds Changed, Skills Lost

Will had just learned to sit up when he was about a year and half old. He had developed a vocabulary of about five precious words. After six months on Depakote, those words were gone. Our 2-year-old son couldn't sit up any more, and he was completely lethargic.

After 10 unsuccessful months, we weaned Will off the Depakote and started Lamictal in its place.

We were now on our fourth medication, and not only was Will still having seizures, we noticed that the higher we went on the Lamictal, the worse his seizures got. This latest drug did stop the myoclonic seizures he had during sleep for a while, but they gradually came back.

Trying Alternative Treatment

Not content to stay on the medication merry-go-round, we sought alternative treatments to help Will. Hyperbaric oxygen therapy, in which he breathed pure oxygen inside a pressurized chamber, didn't help. Neither did craniosacral therapy, yoga or acupressure. The most Will got from these treatments was a good massage.

Some days, a good massage was welcome. Will's muscles do get tight and rigid when he has seizures, which is ironic because he generally has such poor muscle tone as a result of isodicentric (15).

Different Kind of Parenting, Living

Having a child with special needs has required a different kind of parenting from the kind my parents and Patrick's employed. They didn't have to worry about estate planning and guardianship. When a child has medical issues, it requires a different outlook on life.

When we first found out about Will's disorder, we learned that some kids like him end up in residential living facilities. Our biggest concern for Will, an only child, is that he will be able to take care of himself and manage his medication when my husband and I are gone.

As parents, you take for granted that the child you wanted so much is going to be healthy, that they will walk and talk and go trick-or-treating just like you did, but Patrick and I have learned not to take anything for granted any more.

We have learned to appreciate the small things in life, the smallest accomplishments Will makes. We know he won't play Little League baseball like other boys his age, so we look at other achievements we can celebrate. A seizure-free day is a big thing in our lives.

Everyday Hard Work

Our son is 100 percent dependent on us. Every day is a lot of work, and each day doesn't always start smoothly.

Will's worst time for seizures is in the early morning hours while he's still asleep up to about 30 minutes after he wakes up. Patrick and I have a video monitor in our bedroom, so when I hear Will have a seizure in the wee hours I go to his room. If I start the night in my bed, I'm often in bed with Will by 2 a.m., where I stay for the rest of the night. My husband sees us through the monitor and knows we're all right.

Having such broken sleep makes it hard to get Will up and out to school every day. Some days I don't send him, thinking that he might as well sleep at home in his bed instead of on a mat at school.

We are fortunate that Will goes to a small private school where he is not lost as a result of his passive personality. I am able to work part time around his school schedule while my husband works full time.

Working part time is the only way I can keep up with the demands of caring for Will. Waking up with a seizure at 4 a.m. sometimes means we are up for the day. After a short night and a day of getting him up, fed, to and from school, making dinner and still trying to be a wife, I am exhausted by 9 p.m. Fortunately, Will's temperament is such that, although he may be hard to carry around, he is a sweet boy and is not a difficult child.

Personality Changes

Will has developed a more passive personality as a result of the medication. He used to be a happy little boy who always smiled and laughed. Now it takes a lot to make him smile and more to make him laugh.

He plays with us if we push him, but it takes a lot of coaxing. His real personality has been lost by medications and seizures.

He is working so hard to regain the skills it took him so long to learn. It's harder for him now because his body is bigger and he is much heavier, so controlling his growing body is difficult. But being the determined little boy he is, he isn't giving up.

Life Today, Hope for Tomorrow

Will is still having seizures practically every day. He has a mini-panic attack just before one starts. He starts to yell and his body temperature rises. We are currently in the process of weaning Will off Lamictal and adding Keppra to the Klonopin.

After several failed attempts at control through other medications, we are trying to be optimistic that there is still something out there to help him. He continues to work hard in various therapies, including physical, occupational, speech and aquatic.

Will is the first one in our family to have epilepsy or any special need, and over the last four years I have learned so much. Knowing my child is going through such an awful thing as seizures is emotionally painful. When a seizure happens, all I can do is hold him tight so he knows I'm right there.

My only wish for my son and everyone who suffers as he does is that they can live their life to the fullest. We need a lot more research into ways to control and prevent seizures so that everyone, not just kids but adults, too, can get off the medication merry-go-round and have a better quality of life. I want my son to feel like he has a part to play and contributions to make in this world.

Thank you for taking the time to get to know our son and for caring enough to give whatever you can toward research that will give every little boy a chance to become the man he dreams of being.