Trying to condense 18 years into anything less than a novel is going to be difficult. So many things have happened since Joey's birth. Probably the easiest way will be to create five sections - prenatal & neonatal, ages 1-5, 6-10, 11-15, and 16 to present. I'll mention any particular problem areas, with links to the applicable pages in our website. I'll try to keep it brief! And, if you are having a particularly bad time right now with your own child, and can't bear to read one more negative line about a child with lissencephaly going through hardship, here is a detour you can take to read about good times instead .....AGE 16 TO PRESENT
PRENATAL & NEONATAL:
During pregnancy, there were a couple of things that might have indicated a problem. First, Joey did not move very much. I have an older child, so was able to compare. Also, I gained an incredible amount of weight - 50 lbs. Early in the pregnancy (at about 3 to 4 months), I came down with a 24 hour virus with vomiting, weakness, muscle aches, etc. that kept me bedridden for the day. At that time, my obstetrician ordered up some blood work, and it was found I tested positive for toxoplasmosis. We did own a cat, and possibly I caught it from cleaning the litter box. (You can also catch it from eating undercooked meat.) However, later we were told if this was the cause of Joey's lissencephaly, he should have antibodies for toxoplasmosis in his blood and he does not. Joey's MRI does show areas of calcifications in the frontal white matter of his brain, which I understand usually points to a viral insult to the fetus.
My delivery had to be induced, as was the case when I had my first child. I was 17 days post-term. When they tried to break my water, they found no fluid in the amniotic sac. Labor lasted 8 hours. When Joey was born, he came out grey in color and he had meconium staining on his legs. He weighed 8 lbs/10 oz, was 20-1/2" long and his head circumference was 14". He didn't cry immediately - it took 3-4 minutes before he did. A puzzling thing to us is that Joey's Apgar score was recorded as 9/10 - and the 9 score should have been much lower due to his color, etc. The only abnormality noted immediately was a sacral dimple - Spina Bifida Occulta. We were reassured by the pediatrician in the nursery that this happened often, and didn't indicate a problem. WRONG!
I remember very vividly the first bottle feeding I gave Joey in hospital. He had trouble sucking and took a long time to drink it. Suddenly, he projectile vomited the whole bottle. I remember thinking "well, this is getting off to a fine start!" Once we got home, the poor feeding continued. Joey also seemed very stiff in his arms and legs. He would go into staring spells - with a stare that seemed to go right through you. We know now he probably was having absence seizures.
It was at the age of approximately 4 months that he had his first obvious seizure, as described on our diagnosis page. For the next ten months he continued to have mainly staring spells. Joey's first seizure medication was Mogadon.
We enrolled Joey in an early intervention play stimulation program, and he also was being followed by Occupational Therapy at the Montreal Children's Hospital. The only thing we were told was that he showed a significant developmental delay. We were still in a state of ignorant bliss, not having read any literature on lissencephaly. Joey showed little interest in toys, but responded well to people. He would smile and coo - a real charmer.
AGES 1-5:
For the next three years, Joey continued to develop, albeit very slowly. He could sit up at 15 months and learned how to crawl at 2 years old. Actually, it was more like a "bunny-hop". He continued to have seizures - although now they tended to be drop attacks. Joey would have clusters of 5 to 6, with about 30 second intervals between each drop.
In April of 1984, at the age of 3 years old, all hell broke loose. Joey had his first grand mal seizure. It was the most terrifying thing we had ever seen. We contacted his neurologist, who said to expect changes in the seizures - this was not uncommon. Joey was started on Dilantin. He continued to have grand mal seizures - first one a day, then two, then five - he got to the point he was having one every two hours. He would seize, then sleep, wake up and seize again. It was a nightmare we were living. We were in constant contact with the doctor, adjusting medications - Depakene was added to the mix with no noticeable improvement. Finally, we decided to get him admitted to hospital as we just couldn't deal with it anymore.
In hospital, Joey was hooked up to an EEG. It was noted that he was in a state of status epilepticus - almost constant seizing. He also had a "hypsarrhythmic" pattern. They gave him valium, then pyridoxine with little improvement noted. A decision was made to begin ACTH injections. Well, that did the trick. Within days, things went back to the "normal" head drops and staring spells, and Joey regained his previous level of alertness. The crisis was over!
AGES 6-10:
Over the next few years, Joey continued to develop. He was able to "cruise" along the furniture, although his balance and co-ordination were off. The play stimulation program ended, and he started school. Finding a school was difficult, as we had nothing locally. We found a wonderful school, John F. Kennedy School, in Beaconsfield, Quebec. It is a smaller school, with a student population of under 100 pupils. A real family atmosphere and we were very happy with our choice.
Medically, things returned to a relative calm. The seizures continued - mostly drop attacks now. One disturbing change occured - Joey would bite his tongue during a seizure. We would find him in bed, in a pool of blood. Thankfully, this only lasted a short time, but it was extremely unpleasant. I'm sure it was very painful as well, as there would be large lacerations on Joey's tongue.
Then, another crisis. At the time, we were giving Joey his seizure meds folded in food. One day he had a bad cold and, right in the middle of swallowing an Epival pill folded in a piece of sandwich, he coughed. He began to choke, and I tried to dislodge the pill with my finger. I couldn't reach it! Luckily, my husband was home and we lived not too far from our community health clinic. We rushed Joey to their emergency dept. The nurse on duty was one that knew him, as she had administered his ACTH injections for almost a year. She grabbed Joey out of my arms, turned him upside down, and the pill went down into his lung. But, at least his airway was free and he could breathe. We rushed him by ambulance up to the hospital, where an emergency bronchoscopy was done to remove the debris from the pill.
After that, Joey began developing a lot of respiratory infections. He got sinusitis, pneumonia, adenitis. Was it because of the pill he had aspirated? His seizures also increased, and Tegretol and Rivotril were tried. One of those drugs seemed to cause Joey's secretions to increase, along with a decrease in his appetite. From the age of 7 to 8 years old, he was hospitalized a total of 53 days. Things were going downhill. He would or could not eat or drink, and nasal gastric tube feedings were started. Initially, it was to get him "over the hump". Unfortunately, Joey's co-ordination was good enough to haul the tubing out of his nose. It would take 5 people to reinsert the NG tube. Joey celebrated his 8th birthday in hospital. He caught Fifth Disease during that hospitalization, had an I.V. infiltrate in his foot and, because he was on an I.V. pump and the fluids continued to flow after it infiltrated, his foot blew up to the size of a football. He still has a large scar on his foot, as the I.V. fluid caused a serious burn where the needle entered the skin.
Now, I know by now you're thinking "Stop - I don't want to read anymore of this - it is too depressing!" This is where Joey's story takes a dramatic turn for the better, with the insertion of his Bard gastrostomy feeding tube. It was back in July of 1989, at the age of 8-1/2 years old. After a short period of adjustment where Joey would vomit the feedings, things calmed down. We now had an easy way to get his seizure medications into him. He came down with a few pneumonias, but because of the tube we could get the antibiotics into him quickly. He began to gain weight. Things were looking up!
AGES 11-15:
The only problem we encountered during this period was increasing seizures. The classification of "Lennox-Gastaut Syndrome" was added to his diagnosis. Joey was having mainly a mixture of myoclonic jerks, drop attacks and tonic seizures - at least 25+ per day. The tonic seizures tended to be provoked by loud, sudden noise. If someone dropped a fork, say, Joey would have a tonic seizure. It was as if instead of being startled, he would seize. We had rigorous discussions with his neurologist on this one. He felt a "true" seizure couldn't be provoked this way. Well, one day during our appointment, Joey's neurologist accidently slammed the door to his office. Joey immediately went into a huge, intense tonic seizure. The doctor scratched his chin, and said "Well, I guess I have to admit THAT is a seizure." So, if your child's seizures seem to be provoked by noise and you get into this discussion with your child's neurologist, you tell him/her about Joey!
Joey's level of functioning was affected by the numerous seizures he was having. After a tonic seizure, he would sleep for an hour or so. Some new seizure meds were introduced - Frisium in 1992, then Vigabatrin in 1994. Joey was taking Depakene as well (the one medication he has stayed on since 1984). Not long after the introduction of Vigabatrin, a remarkable change occured. The myoclonic jerks, drop attacks and absence seizures stopped. The tonic seizures decreased - to 5 per day. In between seizures, Joey was alert and very responsive. At school, he no longer slept most of the day away. We seemed to have turned a corner.
Then, in December of 1993, another crisis. Joey came down with pneumonia. We tried to treat it at home, but his fever wouldn't go down, despite antibiotics and Tylenol. He ended up in hospital. When we arrived, his fever was 107 F - the emergency room staff told us he was heading into shock. He was admitted, and started on Clindamycin, as it was felt he had an aspiration pneumonia. This was a HORRIBLE drug. It caused Joey to have severe diarrhea - his skin disintegrated as if the stools were acid. He was taken off the Clindamycin, but it took weeks to heal his bum. (One tip we learned from a nurse - if this happens to your child, leave them diaperless and let pure oxygen dry up the lesions. The oxygen helps the skin to heal quicker.) Another antibiotic was tried, and Joey began to respond.
He came home with a nebulizer machine, suction machine and was started on regular Ventolin treatments to try to keep his airways open. This has been really helpful - at the first sign of a cold, we increase his Ventolin masks, start doing "clapping" exercises to loosen up the secretions. As I write this today, Joey has not been back in hospital since Dec. 93. Touch wood!
AGE 16 TO PRESENT:
I am very happy to report that, since the Dec. 93 hospitalization, Joey has not been seriously ill. Oh, he has had the odd pneumonia, which we nip in the bud with antibiotics, and extra Ventolin masks. He is still taking Depakene, Clobazam and Vigabatrin for his seizures, (mainly tonic seizures - approx. 2 per day, although he'll throw in a weird, oddball seizure every now and again to keep our adrenaline flowing). We are presently (February 2000)introducing another seizure medication, Lamictal with the intention of weaning Joey off the Vigabatrin. It seems there are problems with visual field loss in many patients who have been on Vigabatrin over a long period of time and at a high dose. Since Joey has been on it since 1994, our neurologist recommends he come off it. Let's hope that the seizures are as well controlled with Lamictal as they were with the Vigabatrin.
I don't know if it was puberty and all the changes in hormones that calmed things down, but this period has been one of the healthiest in Joey's life. We are grateful for the lull in activity - we've been able to enjoy Joey these past few years without the challenge of ill health. We are settled into our routine, and very happy to be at some kind of plateau on this "roller coaster ride" of life with lissencephaly.
We hope and pray your child finds this plateau as well!
Completed Pages:
(This website is still under construction.)