When Ian was four months old he had a case of roseola, developed a mild fever and rash that lasted for about a day. The next week he developed an intracranial bleed resulting from a shortage of vitamin K in his system.
Thanks to the abilities of some wonderful doctors at Doernbechers Children's Hospital in Portland, Oregon the blood clot in Ian's brain was removed with what we believe was a minimum of brain damage. He left the hospital about 2 weeks later with no known reason why he had been depleted of vitamin K (as well as all the other fat soluble vitamins), with guarded optimism that with monitoring he would be fine. At about 9 months of age, on the recommendation of his pediatrician, Dr. Sharon Bucher, we had his eyesight checked out.
I think it was his original ophthalmologist who had the first clue what his diagnosis might be. She knew of Dr. Richard Weleber's work and I think recognized the distinctive retinal and optic nerve degeneration associated with IRD. She referred us to the Casey eye clinic and ultimately to Dr. Weleber himself. It was at Casey that they first ordered the diagnostic blood work.
About the time Ian turned one was when the actual diagnosis of Infantile Refsum's disease was given to us by Dr. Neil Buist, a metabolic specialist at Oregon Health Sciences University. At that time Ian was not yet crawling, his hearing test showed moderate hearing loss in one ear, the other ear was not tested. Within a six month period we witnessed his hearing decrease to the severe level with a 90 decibel loss, where it has apparently stabilized.
Now at almost 4 years of age Ian has learned to walk, can feed himself with a spoon and a lot of mess, but will not eat solid food. He knows some sign language and swims like a fish. He did not get his first tooth until he was 2 years 4 months, and still doesn't have all of them. There is definite bone age retardation and the possibility of Growth Hormone shortage.
Ian is a remarkably happy and cheerful child, with a lot of energy and charm. He is generally cooperative, as much as any four year old child, and though not in the least cuddly, is quite loving and affectionate. He thrives on praise and can be something of a ham in order to attain it. His vision is hard to ascertain and at times he seems almost cortically blind and at others times seems to see fairly well. According to Dr. Weleber, his vision loss is progressing slowly, and has not yet affected his macula.
Ian has come a long way in his development, and for that we owe a word of thanks to the Early Intervention Services of the Washington State School for the Blind, the PRIDE program at Clark College, the Deafblind Commission of Washington State, the Washington State Department of Services for the Blind, the Early Childhood Center of the Evergreen School District and all the wonderful doctors and nurses at Oregon Health Sciences University. The biggest word of appreciation goes to Ian himself, who is the bravest, sweetest, and most pleasant person we have ever known.
It has been awhile since we put these pages up, so a short update is in order.
Ian is doing well, and is enjoying being back in his pre-school, this year a one-on one aide has been provided for him through the Evergreen school district, where he is enrolled in the deaf program at the Early Childhood Education Center. Sandi Homan, his teacher, is wonderful.
Last spring Ian developed seizures associated with fevers, he had four seizures in three months. After an EEG was performed it was determined that they were probably the result of brain damage that occurred with the bleed he had at four months. We are praying they do not re-occur, if they do we may have to put him on medication to control them.
During the summer, Ian became enrolled in a study being done at Johns Hopkins Hospital, on the drug docosahexaenoic acid/arachidonic acid. It is a "blind" study, so we do not know at this time if he is receiving the real thing or a placebo. Dr. Gerald Raymond is heading up this study. Dr. Raymond was kind enough to allow us to put his e-mail address on the medical links page, for those wishing to contact him.
The purpose of this study is to see if the progression of retinal degeneration can be abated with the use of this drug. A controlled study was needed to verify or discount the anecdotal evidence associated with it. So Ian cheerfully "volunteered", and flew back to Baltimore. Ian is a wonderful flyer, however his mother is taking the train next year.
All in all it's been a busy and eventful eight months since we put these pages up, We have had contact with people all over the country, and around the world. To those of you who have contacted us, thank you. To the doctors and professionals who have lent their support, thank you. And as always, to Ian, thank you for being our son.
Ian enters kindergarten this fall, his one-on-one aide Nancy Knox will be with him as he enters into a program where he will spend part of his day in a classroom for the developmentally delayed children and part of his day in a classroom for the deaf and hard-of-hearing children. The main thing is that Nancy will be with him as she was last year. Together Ian and Nancy have made great strides at making the world more accessible to Ian. He still is not signing as much as we would like but has made great leaps in understanding other's signs.
Ian has completed Dr. Raymond's study on DHA/AA and is now receiving "the real thing."
He has also started to chew on cookies at snack time, he still isn't getting much of them down but very much enjoys the experience of feeding himself. He has finally made it back onto the doctors' growth charts, at least in terms of weight. It seems to me that he is growing like a weed, but mostly I think that I have that impression because he is rapidly losing a lot of his "babyishness" and turning into a kid.
Ian has had two more seizures over the last year, the last one in June was notable because of it's length, at least eight minutes. We're not sure what, if anything, this portends. Other than that he seems to be doing well.
We have had a change of roles here in our family, John is now the one who stays home and takes care of Ian. Now I get to be the one Ian is happy to see when I get home from work. Ian has adjusted quite well. John started Ian on cane training last winter, and Ian will now use his cane (with help) up the sidewalk to get on the bus to go to school, and use it again to get from the bus to the classroom. This is a big improvement.
All in all, we are quite proud of the advances that Ian has made over
the last year and we would like to specially thank Nancy for her work with
Ian. Other than John and I, he is closer to her then anyone else.
So, thank you Nancy.
- - -
Update 10 October 1999
Ian started first grade in September, his first real experience with full-day routine. Before now, through pre-school and kindergarten, he was always home for meals, and he always took a nap after lunch. The transition from the last day of summer break to the first day of first grade was sudden, and was a transition for him on a deeper level. A new life stage, with new expectations and new percs. Ian is very much a creature of habit, certain things are always done in certain places in certain ways at certain times. The rituals of mealtimes and sleep have become routine his entire life and variation has usually been met with great suspicion. But just a month into his new schedule, and he's already made the change quite well. His lunch is fixed at home, they warm it up and feed him. He's taken quite well to this and eats like a horse. His teachers and aides are also working on self-feeding, of which he's capable, but reluctant to do. The lack of an afternoon nap was a bit more of a problem the first week or so, but he's adjusted to that by sleeping on the bus coming home. Just a catnap to get him through the evening. During the week we go swimming in the evenings at the pool at the Washington State School for the Blind, by the time we get home and have dinner and shower, Ian has had a very long day and has no trouble sleeping at night.
His first-grade class otherwise is pretty much a continuation of the program he had in kindergarten. He's enroled in a class of deaf first-graders and about half these children have been continuous classmates of his since pre-school. As in kindergarten, Ian divides his time between the classrom for the deaf children and the classroom for the developmentally delayed children - and accompanied as always by his aide Nancy Knox. Ian and Nancy have made great progress in the use of tactile and close-visual sign. With patience and repetition, coupling routines to signs and signs to routines, Ian's receptive sign is now about 150-200 words, mostly in the form of understanding and appropriately following instructions or directions. His expressive sign is nowhere near this, but this is considered to be developmentally correct and that expressive sign will naturally follow.
Ians educational plan (IEP) for the year is a joint effort of the Evergreen School District, the Washington State School for the Blind, the Washington Sate Deafblind Commission, and his parents. There are too many people to thank each by name, and surely someone would get left out, so I won't try. You know who you are. Thanks. I appreciate the co-operation, open communication, and genuine concern for Ian's well-being that has marked the workings of this team.
Ian continues under the care of Dr Bucher (his pediatrician), Dr Steiner with the Metabolic Clinic at OHSU, and Dr Weleber at the Casey Eye Institute OHSU. In addition, the results of extensive bloodwork done every three months are shared with Dr Raymond and the other doctors at Johns Hopkins. All in all, Ian appears stable in spite of his extrememly abnormal chemistry. A cranial MRI was performed in June and the results of that showed no noticable change from the one 18 months previous. It may be related to this that Ian has only had one epileptic seizure since the last update. That was in January 1999 and only lasted about 2 minutes. As always in the past, the seizure was accompanied by a sudden-onset, very high fever. The idea that Ian has had seizures in the past and will likely have them in the future can never really be set aside. But he doesn't take anti-convulsants, everyone agreeing that it isn't really called for, just to avoid a seizure or two a year. So far, so good.
Ian is still getting DHA/AA through the Johns Hopkins study.
In August, Dr Peter Lax at OHSU performed a complete oral reconstruction
on Ian. This was a regular surgery performed under general anaesthesia,
and nearly every tooth in his head was involved: fillings, crowns, caps,
porcelain and stainless steel. The works. It was unusual in that all this
work was done to Ian's baby teeth, but there seems to be some evidence
that children with peroxisomal disorders keep their baby teeth for a long
time and even when their adult teeth come in they're usually very poorly
formed or diseased. So we felt that some work should be done to shore up
Ian's baby teeth since they'll probably have to last him awhile. Even at
that, he still doesn't properly chew and all his food has to be soft or
- - -
Update - 19 October 2000
Ian's had quite a year. Since the last words were written there have been a number of developments, and most of them not for the better. Understanding a little of the course of the disease, they weren't entirely unforeseen - but events arose suddenly and violently, after what had been the relative calm of his life. I smile re-reading what I wrote above about Ian's seizures - "so far, so good". That was the calm before the storm.
Ten days after I wrote that, on October 22nd 1999, Ian had a grand mal seizure in his sleep, as always burning with sudden high fever. It had been nine months since his last seizure, so it didn't seem abnormal. Just spooky, as they always are. But what set this one apart was that it didn't end on its own after a few minutes. Ian just remained in a state of convulsive seizure. So I gave him some drugs for this purpose, which didn't work. Then called the EMTs, who gave him more drugs, which also didn't work. And then taken to the ER of the local hospital, where the doctors gave him yet more drugs, which finally - 45 minutes after they had started - stopped the physical convulsions. The downside to this was that all the drugs just about stopped Ian as well - he needed to be intubated and put on life support because his heart and lungs were so depressed. After a few hours waiting for him to stabilize so he could be transported safely, he was taken to the Intensive Care Unit at Doernbecher Childrens' Hospital, where the next morning he was seen by Dr Thomas Koch, a pediatric neurologist. At this point Ian remained deeply unconscious. Dr Koch ordered an EEG to be run, the results of which were very concerning. Ian had gone into what is known as status epilepticus - all very complex, but basically he remained in a state of brainwave seizure even though there were no physical manifestations of it. I think of it as the gutter of a bowling lane - once the ball falls into that track it doesn't come out. At any rate, a very serious situation.
The solution to this had some anaology to computer operation. With a computer stuck in a loop and not accepting input from the keyboard, the only thing to do is power down, count 15 and reboot. With Ian the powerdown was to to give yet more drugs, the purpose being to get his brainwaves down to as minimal a level as possible, and the reboot was then to step him down from these loading doses. Fortunately, Ian responded really well to this and about 14 hours after the seizure had started his brainwaves finally returned to "something like" normal. Actually, Ian as a person was "nothing like" normal - he continued to sleep it off for another 116 hours, not rousing at all the first four days and never more than a few seconds the rest of the time. Finally he came around, was eating and drinking and walking around - he was discharged and sent home after six days.
One thing he came of the hospital with was a prescription for a permanent anti-convulsant, something which had been avoided until then. And considering the nature of his past seizures, it was reasonable to not have Ian on drugs like this. But this was a different kind of event than what he had been through in the past and one which obviously could not be risked in the future. Dr Koch was (is) very conscious of - and conscientious regarding - Ian's sensory and cognitive disabilities. For this reason the drug chosen was gabapentin - which is metabolically safe (doesn't cause liver damage and all that kind of stuff) and cognitively safe (doesn't tend to have pronounced psychoactive/behavioual effects; or to use the vernacular, doesn't really get the child stoned). However, gabapentin is not really a heavy hitter in terms of its ability to prevent seizures; there are more potent drugs in this regard, but they become metabolically and cognitively less and less safe as their ability to control seizures increases. But at the time we weren't inclined to use anything more potent because Ian didn't (and doesn't to this day) have a history of convulsive seizures on a regular basis, just one or two a year. And up until then, those had been pretty much benign. So we weren't thinking of the gabpentin being necessarily strong enough to control these, but of being able to control a blow-out event like Ian had just been through.
Ian came home, rested a few days and then returned to school. One of the first orders of business was to get him used to walking with his new foot braces, which had arrived from the manufacturer in his absence. He had worn DAFOs (dynamic ankle/foot orthotics) like these when he was three and four years old, because he was starting to walk but the bones in his feet were not yet completely developed, so the weight was causing further complications. And it had at one point been felt that the problem was taken care of so the DAFOs were discontinued, but toward the end of his kindergarten year his physical therapist began to notice that his right foot was really not developing very well at all, in fact that the bones in his ankle and arch were nearly in a state of collapse and that at the rate things were going it wouldn't be long until his right foot would be unable to support any weight at all. Even though his left foot was basically OK and the problem was really just with his right, a DAFO cannot be worn on just one foot. So new casts had been made during the summer and two months later the new braces arrived. The main trick to walking with them is that shoes have to be worn over them, and to fit over them have to be rather oversized - which amounts to maybe having to learn to walk in snowshoes. But Ian picked it right up (again, since he'd worn DAFOs before) - and seems to actually enjoy wearing them. Which is a good thing since he'll probably require them the rest of his life.
Through the winter of 1999 and into the early spring of the new year things went pretty well. Ian continued to make steady progress at school, adjusting well to the full-day program, increasing his understanding of sign, becoming less tactily defensive, and interacting more readily with his peers (that is, children his own age. Generally, Ian has always preferred the company of adults.) He also made great progress with self-feeding, a skill which became firmly in place at school but which, however, never quite made it home. Except for the development of a slight tremor in his right hand, there were no signs of any continuing neurological abnormality and it was felt that the gabapentin was doing its job.
By April of 2000, this had all started to change. Regressive changes.
At first they were so subtle that no one could quite put their finger on
it. He became increasingly unsteady on his feet, to the point that he could
no longer be trusted to walk unaided. In fact, he began to seek out a hand
to help him walk, something he had always shunned before. This is a child
who to that point had always had good navigation and mobility skills in
indoor environments, and whose skills in his own home were excellent. But
he got to a point where he was unable to even pull himself to a stand,
let alone walk. The most noticable change was extreme lethargy and an inordinate
- sometimes scary - amount of sleep. Ian had always been accustomed to
taking an afternoon nap. When he went into first grade he was allowed to
take a nap every afternoon, but to that point a nap had been a 20 minute
snooze after lunch. By the end of April the reports coming back from school
were that he was sometimes lying down and going to sleep within an
hour of the start of school and sleeping for three or four hours at a time.
Basically, all day.
Of course, under these circumstances he had to be kept home from school, but he never showed any signs of having any common kid illness. So he'd seem OK, I'd send him back to school, he'd be alright for a day or two, then the same thing would happen over again. One step forward, two steps back - this went on for about three weeks.
Another thing that didn't seem quite right was that about a half-dozen time during the winter and spring Ian would throw up for no apparent reason. Sometimes on the school bus, sometimes at school. Of course, when this happened I had to bring him home from school but he was never distressed or ill in any kind of obvious way and he'd return to school the next day.
By the beginning of May it was obvious to everyone working with him that something was definitely the matter. His pediatrician Dr Bucher ran some bloodwork one morning and that afternoon telephoned to say Ian had tested positive for mononucleosis. While not a good-news diagnosis, and certainly an unusual diagnosis for a seven year-old child, we all felt that it accounted for a lot of what we were seeing and were relieved to have at least an apparent cause. For the next three weeks he stayed home from school. Typical schedule was: get up in the morning, eat breakfast, take a nap. Get up, have lunch, take a nap. Get up, eat dinner, go to bed for the night. He was probably sleeping 18 hours a day, and when awake unable to do much except sit in his high-chair at the table. And even at that, sometimes unable to even hold his head upright. By the end of May it was obvious that something was still not right. Dr Bucher said that this was not following a normal course for mono, and that that diagnosis didn't account for the steady regression we were seeing. She thought it very possibly neurological in nature; the loss of motor skills, the extreme lethargy and constant sleeping, the inexplicable vomiting. She advised that Ian's specialists at OHSU, Dr Steiner and Dr Koch, examine Ian as soon as possible and that he have a cranial MRI and an EEG. I telephoned the doctors and set up an appointment for the following Monday morning. This appointment wasn't an emergency, but was a matter of some urgency and was off Ian's usual (four times yearly) schedule to be seen by them.
That was a Friday morning, the 16th of June. Ian had been basically off his feet and out of school for the preceeding six weeks. We didn't have a clue that we were about to spend the rest of the summer dealing with medical complications.
Ian has cranial MRIs once every 18 months, the main reason being that IRD is potentially (though not typically as in NALD) demyelinating and this needs to be monitored. The one that was being requested now was only12 months since the one previous, but under the circumstances we all felt it was a prudent step and best to go ahead and do early. When Ian has an MRI it has to be done under general anaesthesia, since he isn't a child who can be instructed to lie still during the procedure. Attempts were made in the past to simply sedate him with chloral hydrate, but to a remarkable degree chloral hydrate has no effect on him - so typically he's given versed and nembutol and put straight out. I'd been told that the MRI could be done the same day as the appointment but that the EEG couldn't be scheduled until the following day - and I was in the back of my mind anticipating that we would likely end up spending Monday night in the hospital, so over the weekend I'd packed a small day bag for us, with food I knew he would eat, his tippy cup, extra clothing, all that. Be prepared. I had no idea what I was preparing for.
Sunday morning, bright and early, Ian took a tumble. My back was to him at the time and I didn't see it happen, so really have no clear idea just what did happen. Only that he had tried to pull himself to a stand in the kitchen and had missed. When I turned around all I saw was blood coming from his mouth. And of course, coming from his mouth, what seemed like an incredible amount of blood. Now, Ian's taken his share of tumbles and spills in his life and normally they aren't very concerning, especially when the injury is visible and I can keep an eye on it. But with a child with a known bleeding disorder, and when the injury wasn't visible, it didn't seem wise to wait while he (hopefully) stopped hemorrhaging. So I scooped him up, along with our bag and his wheelchair, and I immediately took him to the ER at our local hospital. We were there within 20 minutes and he was still bleeding openly although it had calmed down a bit. The ER physicians managed to get a look into his mouth and it was seen that he had managed to knock out two of his upper front teeth (the right 1st and 2nd incisors; the left incisors had been gone for about a year before that). They were unable to tell if they'd been knocked out clean or if the roots had remained in his gums. (They asked me if I'd found any teeth on the floor - which I hadn't - so they took a couple of chest x-rays to make sure that he hadn't aspiated them - which he hadn't). Finally, after about an hour Ian stopped bleeding and it was decided that he really needed to be seen by an oral surgeon. However, at this hospital there was none on call, and certainly not a pediatric oral surgeon - so arrangements were made for me to take Ian over to the ER at OHSU. This was all for the best as we were scheduled to be at OHSU they next day anyway, and because Dr Lax practices there. So off we went to OHSU, about a twenty minute drive. All this time Ian never acted like he was in any pain, but even this was not a good sign as he should have been in plenty, and in fact was pretty much listless and semi-conscious.
The ER doctors at St Joseph's had called ahead so we were expected when we arrived at the ER at OHSU. The doctors there agreed that Ian needed to be seen by Dr Lax, but being Sunday he was unavailable until the following day. When I went on to explain that Ian was set to be there the next day anyway, and very possibly would be admitted to the hosptial then, it was decided to go ahead and admit Ian to Doernbecher that day. It was apparent that his condition was more serious than simply missing two teeth - he really wasn't doing very well at all - and it was a common-sense precaution. They did some bloodwork, put him on an IV for fluids, and there we were.
The next morning Dr Lax took a look in his mouth and took a couple of x-rays, which weren't ready immediately. Then - all in the same building - we went on to our appointment with Drs Steiner and Koch. Much in the way of a physical examination of Ian wasn't necessary, he was obviously a very sick child at that point and unable to walk, stand, or do much of anything else I gave them a run-down of events the past two months, told them about the mono, reports from school, the observed steady regression in abilities, the constant listlessness and sleeping, the vomiting. There was agreement that this might all be due to a neurological degeneration. The MRI was scheduled for the next morning, to be done under GA - and then while Ian was coming out of that, and still sedated, to run a routine EEG.
The mouth x-rays - ready that afternoon - showed something amazing. Ian hadn't knocked out his teeth at all, but had somehow mananged to drive them vertically straight back up into his gums. Even more amazing - this had escaped the notice of everyone who had looked in his mouth, including myself. But he'd done such a clean job of it, and driven them in so squarely, that it appeared they were gone. Dr Lax said the only thing he could accomplish by going in then would be to extract them, but that there was a possibility that within a couple weeks they might come back down on their own. So we decided to just wait and see. And the most amazing thing was that Ian never showed the slightest bit of discomfort with this, although again this was not a good sign as he should have been in a great deal of pain.
The following morning Ian was anaesthetized and they ran the MRI, then he was wheeled back up to his room for the EEG. This was originally scheduled to run about 45 minutes - a "routine" EEG - but ended up running 19 hours. The results were dreadful. Extremely abnormal brainwave activity indicating a nearly constant state of seizure, but without any behavioural or clinical manifestations, waking or sleeping. One of the terms used is "electrographic encephalopathy" - in other words, an abnormality in brain function that is only observed in the EEG. Of course, the signs that Ian had been showing the past two months were also observations of abnormal brain function - but nothing that fell into the standard model of epilepsy and epileptic seizure. This EEG showed brain activity that normally would result in a state of physically convulsive seizure.
At any rate, it accounted for a lot. There was every reason to think that this had been Ian's pattern, his baseline, for some time. There was interesting comparison with the last EEG that had been run when he'd been hospitalized the preceeding October. That, and all previous EEGs, had shown the source of the brain's misfires to be centered on the left frontal lobe lesion from the brain bleed when he was four months old. However, this EEG showed generalized activity involving his entire brain - a definite degeneration over the six months between them. The comparison of the two MRIs didn't explain this. Those were exactly superimposable and there were no structural changes in his brain to account for the increased seizure activity. This was a double-edged sword, but the good news was that there was no demyelination.
It was clear that the gabapentin wasn't working to control such abnormal brainwaves, which wasn't too surprising as it's a lighweight drug in that regard. Certainly something had to be done, so we decided to try valproic acid. Depakote. Much more powerful in its ability to control seizures, but metabolically riskier. It's known to sometimes cause liver damage, but the risk of this for Ian is no greater than for anyone else - the fact that he has a peroxisomal disorder doesn't in itself increase that risk. And it's also cognitively riskier - it's more a "sedative" drug. There was choice in the drug that might have been used, but there really wasn't choice in the need to try something. Ian lying in a hospital bed, unconscious, with an IV in his foot and a tube down his nose, wasn't an option.
So we kept him on the gabapentin and added Depakote. Three days later he was awake and alert, eating and drinking, sitting upright, playing with toys. Behaviourally he was at baseline, just washed out and cranky from being in the hosptial. Another EEG was run, a short one this time, which still showed abnormal brain activity, but noticably calmed down from the one earlier in the week. He was discharged Thursday afternoon, we were home that evening and at first everything seemed fine. For one day. But by Friday evening he was already showing signs of not really being better. He did continue to eat and drink, in fact this was just about normal. But he was still unable to walk or stand, and even sitting in a chair his head was mostly on the table. He was very listless and just wanted to sleep. By Saturday there was no question about this - he pretty much never got out of bed and what had seemd "sleepy" was now tending more toward "unconscious". At first I had thought (and was hoping) that this was due to his not being accustomed to the Depakote, that it would take him some time to get used to it, and that the situation would get better. By Sunday I'd turned this around and began to wonder if if maybe he wasn't having a toxic reaction to the Depakote - if there is such a thing. By Sunday night what had seemed unconscious was now seeming more and more like coma, he was unrousable even under intense stimulus.
Early Monday morning I telephoned his doctors at OHSU, explained what was going on and asked if it were possible that Ian was having an adverse reaction to the drug. And that in any event, something was again definitely not right and that the three days he'd been home had been a constant regression. This was only the second time in Ian's life (the first being the intercranial hemorrhage when he was an infant) that I had actually been in immediate fear for Ian's life or his overall well-being. The doctors recognized this - there was a flurry of phone calls - and by noon Ian was back in DCH. Soon they we running another EEG, which ended up going well into the next day. Ian was completely unconscious (if that's the word for it) the entire time. This EEG was far more abnormal than even the first one the week before, "consistent with any severe generalized encephalopathy, but also suggesting . . . an epileptic encephalopathy". The neurologists suggested that we try a drug called felbamate. As it was put to me later, felbamte is "not M&Ms" . It's very effective in controlling generalized seizure disorders, however there are substantial risks of it causing damage to both the liver and blood marrow, the latter resulting in aplastic anaemia - degradation or failure of the bone marrow to synthesize red blood cells. So it isn't a first-line drug of choice and used only in very severe cases such as Ian's, which are not responsive to other drugs. When it first came out in the early 90s it was found to be very effective and had somewhat of a "miracle drug" aura, then a study was done which pointed toward unacceptably high risk in its use. It was never pulled from the market, but there was somewhat of a scare and many doctors and parents stopped using it. And many didn't, the obvious neurological benefits being considered to outweigh even the possible damage to the body. Later some further studies were done which pointed to flaws in the first, and that the risks - while still very real - had maybe been blown somewhat out of proportion. Still, it isn't prescribed except in very severe cases, but it was agreed that Ian was such a case. So he went on felbamate, also continuing a reduced dose of the Depakote; and discontinuing the gabapentin, which obviously was doing no good at all.
Well, this really is the miracle drug, at least for Ian. (Of course, properly speaking, it's the effect of the two drugs in combination - but it's apparent that it's the felbamate which turned the situation around.) At any rate,the effect was noticable within 24 hours. Ian was conscious and alert, and as active as could be expected being in a hospital bed with an IV and an n-g tube. He was also not very happy with his experiences the past two weeks - one of the few times I've ever seen him display a genuine sadness. But he did quickly return more and more to to himself, as it's put "baseline", or what would pass for his baseline under the circumstances. A couple more EEGs were run, which were still abnormal but again definitely calmed down from the beginning of this re-admit. It was agreed that these probably do represent Ian's EEG baseline - that these will always be abnormal - but the real issue was the obvious behavioural and functional improvement with the felbamate.
While Ian was in the hospital Dr Lax came by to take a look at his mouth, which in my mind was on a back burner at that point - so I thought - the least of his problems. Ian had never shown any pain or discomfort with it. But it turned out that the gums around the two impacted teeth were infected and the teth would have tocome out. So they put Ian on penicillin for a couple days to deal with the infection, then Dr Lax extracted the two teeth.
So after six days in the hospital Ian was discharged and we came home again.
The improvement continued. Ian was awake and alert all day from the time he got up in the morning until the time he went to sleep at night. He was still not walking or even able to stand - I realized this could be a possibly permanent neurological change. But the reality was that Ian had pretty much been off his feet for two months at that point, so it was hoped that this was just due to his being out of condition and would come back. Another thing which Ian had lost by then, or wasn't doing anyway, was drinking independently. He never did (and has never done) this since coming out of the hospital the second time. Again, it was hoped that this was a temporary glitch and didn't represent anything permanent - but his lifelong love affair with his tippy-cup and his ovaltine was gone - just like that. He tried, we tried together, but he just couldn't swallow fluids anymore, they just fell out of his mouth. At the time I couldn't imagine that it really was a permanent loss, even thinking that it might just have something to do with his missing teeth and that he'd get the feel for it back eventually.
A few days later we received a telephone call from Dr Steiner - - to have Ian re-admitted to the hospital. At one point with all the bloodwork that had been done a test was run for ACTH levels. ACTH is a hormone put out by the pituitary gland which in turn signals the adrenal glands to produce some types of steroid hormones. The reason for the test was that some of the signs which Ian had been showing - particularly the extreme lethargy - could have had an adrenal cause as well as a neurological. And in IRD adrenal insufficiency or disease is a very real possibility, though not typical as in NALD. So the test was run as a precaution, to rule in or out an adrenal cause as a contributing factor. As it turned out the ACTH level came back sky-high, way beyond any kind of normal level. Even though a simultaneous test for cortisol (i.e. the adrenal hormone) level came back more-or-less normal, the idea here was that the pituitary was working so hard to to produce sufficient ACTH to generate normal cortisol levels that it was just a mattter of time until the adrenals wouldn't respond to any amount. Adrenal failure. So within hours Ian was back in DCH and getting large IV doses of hydrocortisone.
Even though this problem with his adrenal glands was the reason Ian was back in the hospital, there was also the fact that he hadn't been drinking for three days and was showing signs of dehydration. So he went back on a fluid drip as well and I expressed to his doctors my concerns about his not drinking once we got back home. After a few days Ian was discharged, with yet a new set of doctors - the endocrinologists Dr LaFranchi and Dr Buckway - and a prescription for hydrocortisone. They also ran something called a renin test. Renin is analagous to ACTH, it's produced by the kidneys and signals the adrenal glands to produce another class of steroid hormones. . The results for that weren't back yet, but there was no reason to keep Ian in the hospital.
So Ian was home from the hosptial for the third time in three weeks. Now it was not only the combination of felbamate and Depakote, but the addition of hydrocotisone that was making a world of difference with him. His strength began to return, his mood improved, his appetite was excellent. Swallowing solids had never been an issue. That continued as normal and he was getting plenty to eat. But the problem with fluids was on-going. On top of the fact that his solids had to be spoon-fed, now it became necessary to spoon-feed all his fluids as well - in the form of pureed fruits, thin puddings, jello, and the like. While this was do-able it soon became a regimen of doing nothing /but/ . . .sitting at the table hour after hour taking little tiny baby bites with most of it ending up down the front of his shirt. After a week or so I realized that this was untenable (and dangerous) in the long run. Both Ian and I had lost our patience with it and often with each other, the situation having become one of having to force the issue.
I contacted his doctors and explained the situation to them and said I'd reached the conclusion that Ian needed to have a g-tube. And as soon as possible. They absolutely agreed. The subject of a g-tube had come up a few times in the past, but I'd always been reluctant to have one placed as Ian had been eating pretty well, in fact was making good progress with self-feeding - and besides had always taken fluids independently. So it had never really seemed necessary before. But the situation had definitely changed and now the g-tube became a matter of immediate importance. While it was possible that Ian would regain the ability to swallow fluids, unlike with standing and walking we couldn't wait 3 or 6 months for that to happen. As things stood then, with most of his waking hours devoted to spoon-feeding, there was no chance of his even being able to return to school or have any other kind of normal life.
The surgery was scheduled very quickly, but we still had to go another 3 weeks or so before it would happen. Those were some very trying times, but we mananged. Ian didn't dehydrate (and this during August, the hottest time of year) and in fact even gained a couple pounds.
There was one unusual occurance. Shortly after he'd been discharged from the hospital the last time, Dr Koch thought it might be a good idea to step Ian down from the Depakote and work toward discontinuing it altogether. Leaving Ian just on the felbamate, which is believed to be the drug working anyway. But the first night we gave him a decreased evening dose of the Depakote he had a (convulsive) seizure, the first he'd had since the previous October. (in fact nine months to the day, and that had been nine months to the day from the one previous). And of course it was just a co-incidence that this happened when it did - but co-incidence being what it is . . . it seemed maybe not the time to discontinue the Depakote - fragile balance and all that, and we decided to put this off for awhile.
Other than that, Ian showed steady improvement neurologically and in his general well-being. The renin test also came back abnormal, so Ian started taking fludrocortisone also, another kind of steroid hormone. The hurdle at the time was with fluids, but the g-tube was going to take care of that problem, so there was light at the end of that tunnel.
Ian was re-admitted to DCH in mid-August for the g-tube surgery. It went really well, with no complications and never a bit of infection or other weirdness. He was discharged after three days. The use of the tube has also gone very well. We aren't using a pump, just gravity feeds and the immediate lesson to learn was that gravity works a whole lot quicker than Ian was accustomed to drinking on his own at one time. So, after causing him to throw up 2 or 3 times the first week, we soon got into a routine of amount and frequency, which is working out nicely. His "formula" is skim milk mixed with instant breakfast powder - about a quart a day, and another pint of gatorade and/or water.He still continues to eat solid foods (pureed and spoonfed), however his appetite for them is about half of what it was a year ago. But it doesn't matter anymore with the tube.
Between the anti-convulsants, and the steroids, and the g-tube, Ian
has definitely turned a corner from the spring and summer.
He's energetic and quite engaged again in the world around him. He was back up on his feet and walking by the first of September, much more ataxic and unsteady than he was a year ago - which may or may not be a permanent regression - but after three months unable to even stand, a very welcome development.
School started back up about the same time, 2nd grade and back into a full-day program. Except for the fact that he's no longer self-feeding at school, Ian seems to be back into the continuing school routine as he knew it last year. His teachers, aides and therapists are all the same as the last two years. Everyone knows this child and can see what's changed, where the problems are and what needs to be worked on. There's a great deal to be said for continuity of care. Ian is very fortunate to have this both on the medical side and the educational side.
Realizing that Ian himself probably doesn't feel that some aspects of his care are fortunate at all - like say, blood draws. But there's even a routine with that, it's all he's ever known. She sticks him, he squawks, it's all for show, we're out in five minutes.
A word needs to be said in thanks to our friend Elizabeth - Liz. She's Ian's care attendant and watches over him several evenings a week, which is a nice and much-appreciated break for both Ian and myself. Liz came on at the end of last spring, just about the time the recent troubles began, and has been an incredible support in bringing him back to health, one of the most open and compassionate people we've known. So thanks Liz.
Update - 07 December 2001
Well, a bit more than a year has passed and it seems a good time to close out 2001 with an update on the past 14 months.
Between the new meds and the g-tube, Ian is far improved over his condition during the dreadful summer of 2000, and seems generally stable. Since the g-tube has been placed, he's gained weight steadily, a bit less than a pound a month, which is fine. Ian still eats solid food - as always, pureed and spoon-fed - at least twice a day breakfast and dinner, and we use the g-tube to keep him tanked up between. He's generally a very fussy and reluctant eater anyway, and always has been, so just on a day-to-day basis the ability to keep him tanked up has made a lot of difference. He gets a standard "formula" of skim milk mixed with Carnation Instant Breakfast, about a quart a day. And when he's ill with some normal kid stuff like a cold or flu, or post-ictal, the g-tube has made all the difference in being able to keep him hydrated and to get his meds down. It just makes life easier all around, and there's a simple peace of mind that comes with it.
His meds are all pretty much as they were a year ago, and he is still taking DHA/AA through the Johns Hopkins study. He continues to take vitamin K to control the bleeding problem which is common to the disease; hydrocortisone to make up for the adrenal insufficiciency (the endocrinologists later determined that he was also insufficient in another adrenal hormone fludrocortisone, so he's been taking that as well the past ten months); and the anti-seizure drugs Depakote and Felbamate. Because of the possibility of liver and/or bone marrow damage from these last two, there is regular monitoring and so far no sign of any such damage occuring. The doctors say that usually, if there were going to be damage like this that it would have shown up by now, so we're cautiously optimistic that it won't happen.
If it were happening, it would be a difficult decision to have to make
to discontinue use, as the quality of Ian's life has obviously improved
dramatically since he started taking them. Even with these drugs, Ian continues
to have neurological problems, and I have to consider how much worse these
would be without the drugs. From the time of the last update, until March
of 2001, Ian continued to have grand mal seizures. Never any that landed
him in a hosptal for any length of time, but they were starting to
come with an increasing frequency. For Ian, that was still only once every6 - 8 weeks, not too often in the scheme of things, but still quite an increase from the one or two a year which had been typical. Even with the meds, the increasing frequency of seizures was a concern. Fortunately, this hasn't happened. Ian's last grand mall seizure was in March, so at this point he's gone more than 8 months without one, which would be at least back to the previous rate. Who knows? Maybe he'll never have another one. Though I don't count on that.
The current neurological problems have to do with a different kind of seizure, something not seen before, in the form of unexplained laughing fits. With Ian, he'd always done something like this, and sometimes of course he's just being silly and it's a genuine laugh. But about July and into August it started to change and happen with increasing frequency. He would be standing or sitting playing with toys or whatever - and then just out of the blue go into an almost "trance-like" state and laugh hysterically at nothing at all. It was obvious to actually watch it that nothing funny had happened, in other words, he wasn't responding to any outside stimulus. At first this was happening a half-dozen times a day, and over the months has increased to 15 - 20 times a day. There isn't any sign of seizure, he isn't going into convulsions, nor losing consciousness. And it never last very long, maybe 15 or 20 seconds.
The drawback and concern is that when it does happen, he often loses all muscle control and balance, so if he's on his feet he ends up just falling like a tree. Then he'll lie there on his back on the floor, staring up at the ceiling and laughing uncontrollably. The concern of course is that he's going to hurt himself falling like this, and so it's been a big change having to constantly watch out for a child who up until then had otherwise been quite capable of walking independently and safely in familiar environments, especially his own home.
To figure out what was going on, the neurologists administered a 24-hour EEG in October, to correlate the behaviour with Ian's brainwaves. The results showed that these are in fact, seizures. The term is gelastic seizure; gelastic just means laughter. There really isn't much to "do" for them, and his neurologist is of the opinion (which I share) that they aren't radically affecting Ian's life, and that increasing dosages of the current drugs, or trying new ones, isn't really called-for. Certainly, these gelastic seizures are far better than the kind of grand mal seizures which incapacitiate Ian for days afterward, and those seem to be relatively controlled for now.
Ian was rather a cause celebre' and had his fifteen minutes of fame (which actually stretched out about a week) in January when his wheelchair was stolen. (Even though he can walk, he also uses a wheelchair for basic point A to point B purposes). The theft of his wheelchair resulted in saturation coverage in the local print and broadcast media - a "human interest" story and all that - and many dozens of marvelous, caring people came forward to offer him a new one. Fortunately, the wheelchair was recovered (and the culprit apprehended) after about a week - it was returned to him undamaged and he uses it to this day. Still, after almost a year, people will come up to us on the streets and ask "oh, is this the little wheelchair boy?"
A fairly major change has been made in Ian's school placement this year. For the preceeding 5 years, since he was in pre-school - Ian was placed within the Deaf and Hard-of-Hearing program of our school district. Placing deafblind kids in such programs isn't ideal or entirely appropriate to their needs, but in the real world (whatever that is), school districts just don't have programs for deafblind kids, and most of the time programs for them are adapted from what does exist, often a deaf program. That had been the case with Ian anyway. And even within this, Ian had always been in a program of his own, basically consisting of him and his 1:1 aide. As Ian entered third grade, it was obvious that he was becoming further and further removed from the regular academic program of the deaf classmates, who were all of normal intelligence and abilities other than their hearing impairments. Since Ian was already in a program of his own, and just associated with Deaf program as a technicality, it was decided to switch him over to a more traditional special ed setting. The children in this class have a range of disabilities, and in fact Ian is the only one who isn't permanently in a wheelchair. There is no focus on academics as such, but more on physical and occupational therapies, life skills, etc.
In most ways this classroom is more appropriate to his condition and to his needs. The drawback has been that when the change was made, that not one person who had worked with him during the past five years (which had been a fairly consistent group in itself) was transferred along with him, and he has ended up with an entirely new bunch of teachers, therapists and aides who have never worked either with him, or with other deafblind children. The main area of concern with this is in communication. Ian has no formal language at all, and the communication he does receive and express (tactile signs, cues, gestures, vocal tones, tangible symbols) has been the result of close, even intimate, one-on-one relationships developed over years. These relationships that had existed at his old school were essentially irreplaceable, and suddenly gone. No one in his new school had an idea about communicating with him, or any sense of his capability to communicate. With a preverbally deafblind child, consistency is the best teacher; inconsistency and abrupt transitions communicate nothing, other than perhaps chaos.
Since the school year began in September, his new teachers and aides are making remarkable progress figuring out how Ian operates and interacts with the world and other people. What was so sudden three months ago has now become the new consistency. And of course, Ian is so open and affectionate by nature that he just readily establishes the communicative relationships necessary. The program is an improvement over the Deaf program in that there is a better understanding and more appropriate steps taken to deal with physical and mental disabilities, and medical complications. Already in three months they are making great progress with both self-feeding and toileting. The first is something he's slowly regaining, but the second is completely new and something I thought might never happen.
Ian himself has taken it all in stride, as everything else. He tends to be a real go-along kind of kid, so long as the people he's dealing with are cool.
As always, there are too many people to thank individually for all the help and care Ian's received over the past year. Blanket thanks to all the doctors and other folks at OHSU and Johns Hopkins, his pediatrician Sharon Bucher, the assortment of ER doctors who've crossed paths with him at one time or another, the Washington State School for the Blind, the Washington State Deafblind Project (whatever they're calling it this year), and the Evergreen School District.
Liz is still Ian's homecare helper, she's been with us for nearly a year and a half. Three evenings a week, a blessing for both Ian and I. A special thanks to her.