Bill was born on October 14, 1987, nineteen days overdue after a long and difficult labor. He had heavy meconium staining but good apgars and seemed to be fine. When Bill was 5 months old, my husband and I left for a week-long trip and I stopped breastfeeding. After we returned, Bill became increasingly fussy over a few days and then he started to have seizures. We rushed him to the hospital where he had a normal spinal tap, CT scan, MRI, EEG, and blood work. The initial EEG showed a left temporal lobe spike but otherwise looked okay. The pediatric neurologist put him on phenobarbital. We were told that the most likely cause of the seizures was from the difficult labor and because I had gone so far overdue. Bill's seizures became more frequent on phenobarb, and so Klonopin was added. After 3 weeks on both medications, Bill had worsening of his seizures and a repeat EEG showed hypsarrhythmia. We were referred to another major medical center where the doctor diagnosed (as it turned out, incorrectly) that Bill had idiopathic infantile spasms. The neurologist attempted unsuccessfully to get an IV line started for a pyridoxine challenge, and he was sent home on ACTH injections. Since Bill seemed to respond to the ACTH, at least initially, the neurologist said that Pyridoxine Dependency was "most unlikely" and never suggested trying B6 again. After eight weeks, the neurologist determined that ACTH had not been effective overall and the EEG was still very abnormal. Klonopin was gradually increased up to 3.5 mg/day (a whopping dose) and then Bill's seizures stopped and his EEG normalized when he was about ten months old. He stayed on the phenobarb and Klonopin for several years and was very developmentally delayed. Bill attended a special school for infants and preschoolers with neurological problems from about 8 months old until about 4 years of age.
After Bill was about 10 months old, we never saw obvious seizure activity but Bill had poor eye contact and was not very "aware" of his surroundings. Over the next 3 years, we saw slow improvements in motor and cognitive skills, although he was still behind. Bill eventually came off all anticonvulsants by the time he was four years old but no one could explain his improvement. (In retrospect this is when I had started giving him daily Flintstones vitamins and he ate lots of Cheerios-loaded with B vitamins). I was still concerned that Bill was having subclinical seizures (sometimes his eyes would water and he would just stare) but repeat EEGs were always normal. We continued to take Bill back to the major medical center periodically and we got second opinions from other university centers around the country. They all concurred with the initial "thorough assessment". In 1991, I met a leading pediatric neurologist who specialized in infantile spasms. I told him about my son and he suggested that I bring him (across the country) for a PET scan. This pediatric neurologist was interested in the fact that Bill had a temporal lobe spike on his initial EEG and wanted to see if they could find an abnormality in the same area on the PET scan. (We were told that if his seizures ever came back that he might be a surgical candidate). The PET scan showed a slight abnormality in the left temporal lobe area but otherwise was normal. We always asked the doctors if it would be safe to have another child. We were reassured that this didn't happen twice in the idiopathic form. Bill saw 6 different neurologists for evaluation before he was six years old. (I also spoke to several others by phone). Virtually all the pediatric neurologists were associated with university teaching programs.
Jennifer was born on February 26, 1996, when Bill was 8 years old. She had a completely normal delivery and was on time. When she was about one week old, I noticed Jennifer's eyes seemed to flutter upon awakening. I immediately had the horrible feeling that we were going to go through the whole thing again! We found yet another pediatric neurologist (number 7) at another major medical center. (I had lost all confidence in the previous centers who had reassured us about having another child). Also, during the first month of Jennifer's life, Bill started fluttering his eyes when I took pictures of him with a flash camera and when the morning sun flickered through the trees as I drove Bill to school. (He remained completely conscious and could talk to me during these episodes). The pediatric neurologist did EEGs on both children, and they were completely normal. We all went home reassured that Jennifer had just not "myelinated her brainstem" yet and that Bill's eye fluttering was probably just a tic.(A strobe light during the EEG did not induce seizures). (In retrospect, Bill was probably growing out of his B6 dose from the Flintstones vitamins and cereal). We were also referred to a pediatric opthalmologist at another major medical center for Bill's eye fluttering with everything being completely normal.
Several days later, I started seeing brief upward deviations of Jennifer's eyes. We went back to the neurologist but this time for a video EEG. We caught some of the eye movements on the video but the EEG remained completely normal throughout. We were again reassured and told that it was not uncommon to worry about a second child after all that we had been through with Bill. At this point everyone thought that I (the paranoid mother) had completely lost my sanity and suggested that I get counseling and go back to work. Everyone thought that I was having some sort of post-traumatic stress reaction or was suffering from sleep deprivation. I decided to go back to work when Jennifer was two months old convinced that I had imagined the whole thing.
When Jennifer was 5 months old, I stopped breast feeding and my husband and I went to Puerto Rico for a week. (There are large amounts of B6 in breast milk, especially if the mother is taking prenatal vitamins with 10mg B6 per tablet, as I was) After we came home, Jennifer became increasingly fussy, and a few days later Jennifer started having obvious (to everyone) myoclonic seizures. Jennifer had a another EEG which was very abnormal with multifocal polyspike discharges. MRI, lactate, and metabolic screens were normal. The neurologist felt that my children had some rare kind of genetic myoclonic epilepsy and he started Jennifer on Tegretol and Klonopin. (We have no other family history of seizures). I also consulted by phone with the neurologist who had done the PET scan on Bill (he offered to do PET scans on both children) as well as another professor of a pediatric neurology program. The Tegretol helped but did not completely stop her seizures so Vigabatrin (from Canada) was added. Jennifer's seizures improved but she started becoming much less aware (as Bill had done). Going through the experience of having one child with infantile spasms is devastating. I cannot even begin to describe what it was like to watch our second child go through the same thing.
After about three weeks into all of this, I was wracking my brain trying to figure out what we could have missed. Then I came across this quote "The important thing is to never stop questioning"- Albert Einstein. Suddenly the light went on! I had never questioned the doctor who didn't complete the IV B6 challenge! The current neurologist was immediately contacted to see how to do the IV B6 challenge with the EEG. He recommended that since Jennifer was already on three(3) anticonvulsants and she was six months old to just give her 50 mg of pyridoxine twice a day by mouth, and that WE WOULD KNOW if this was it. (I felt like Dorothy in Oz with her red slippers). After the first dose that evening, Jennifer was noticeably calmer. The next morning, she was focusing on her teddy bears again. Three days later, she had her last seizure.....ever. She immediately became much more alert. Another EEG 2 weeks later was completely normal, and we weaned her off the Tegretol, Klonipin and Vigabatrin. She has had no further seizure activity or eye fluttering. We immediately started Bill on 100 mg of B6 twice a day by mouth. He became more verbal, and his eye contact improved. The fluttering of his eyes with light flashes completely stopped after we started the B6. We have not seen any of this eye fluttering since.
Then I found an article that recommended 10 mg/kg/day for Pyridoxine Dependency in an attempt to normalize brain glutamic acid levels. Later on I found another article saying that increased B6 was related to improved IQ in this disorder so we increased both children to 15mg/kg/day. Jennifer's verbalization improved immediately on this increased dose. She is a very precocious 2 year old and is normal in every way. We have now switched both children to time release B6 with even better results (still on a twice per day schedule).
Bill's standardized testing scores have improved dramatically since he has been on high dose B6 beginning in September 1996:
The Wadsworth Center in New York State is currently looking for the defective gene for glutamic acid decarboxylase in my children. This center has been doing research looking for a gene defect for ALS (Lou Gehrig's Disease). I contacted them when I found out that both ALS and Pyridoxine Dependency have elevated glutamic acid levels. Since Bill and Jennifer's grandmother died of ALS they were interested in my theory that maybe the same gene defect could be involved. (ALS being a heterozygous expression of the defect). I don't know if this theory will hold true. It may just be a coincidence but my husband and I take 200mg of B6 a day anyway.
Since being on the internet I have found fourteen other families with a child (or two) with Pyridoxine Dependency. Most had delays in the correct diagnosis. One family lost their first child to intractable seizures before the diagnosis was made in their second child. Since there is not a blood test to diagnose this (yet), it is often not considered til everything else has failed. Traditionally, it was only considered if there was NO response to anticonvulsants, but a response to anticonvulsants does not rule it out. Also, the EEG may not initially change or improve immediately on initial infusion of B6. A few days of oral B6 (100-300mg/day) is now recommended before the diagnosis is abandoned. CLOSE SUPERVISION BY A PHYSICIAN IS NECESSARY WHEN BEGINNING B6 IN CHILDREN WHO MAY HAVE THIS DEFECT BECAUSE OF POSSIBLE RESPIRATORY/NEUROLOGICAL DEPRESSION THAT CAN OCCUR INITIALLY FROM THE RESULTING INCREASED GABA LEVELS. Stopping the B6 will result in recurrence of the seizures if this is the correct diagnosis (another way to confirm the diagnosis) so treatment with B6 is life-long. The oldest child that I have found with this disorder was over three years old when the seizures started, but most seizures associated with Pyridoxine Dependency begin in infants and can even begin in the uterus. LARGE DOSES OF PYRIDOXINE CAN CAUSE A PERIPHERAL NEUROPATHY (nerve damage) WHEN TAKEN FOR LONG PERIODS OF TIME so this diagnosis should be confirmed before committing a child to life-long B6.
An excellent review article on Pyridoxine Dependency is found in the June 1998 issue of the Journal of Pediatrics:
Idiopathic really means "we don't know the cause". It does NOT mean there is no cause, just that it hasn't been found.
Mothers are always right - they should be taken seriously.
Videotape any kind of seizure activity, and keep a detailed diary of seizures and when medications are given.
Do not make more than one change at a time on meds, vitamins, whatever. It makes it much harder to sort out what is helping and what is not when multiple things are done around the same time.
"It's not rare if they are sitting in your chair"- a really smart guy
Don't be too hard on the doctors. Our children can be their best teachers. My children have been mine....
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