Our youngest child was born with hydrocephalus, as a result
of a chromosomal abnormality known as 6q- 25.3-6qter. This means that part of the
long arm of one of his sixth chromosomes is missing, from the area known as
25.3 to the end of the chromosome. This is a very rare condition, and not a
great deal is known about it. Our main motivation in creating this web page is
to share our experience so far with anyone else who needs to know about it.
The type of hydrocephalus our son was born with is known as
congenital aqueduct stenosis with hydrocephalus. A VP shunt was installed
shortly after birth to treat the hydrocephalus, but unfortunately this resulted
in a staphylococcal shunt infection, which led to meningitis. The meningitis,
in turn, resulted in cerebral palsy and later epilepsy. The shunt was removed
and then replaced.
In addition, he had vesico-ureteric reflux, and developed
feeding problems following a chest infection. As a result he had a gastronomy
tube inserted and was tube fed for more than a year. He also had a slight
squint, which was corrected with glasses for a short period, and had a hearing
aid for a time as well.
When he was three it was discovered that he had a tethered
spinal cord, and underwent an operation to untether it.
All of this may sound like a nightmare, but although
difficult at times, it has not been the nightmare you would think. Probably the
biggest reason for this is that our son has a beautiful nature and an engaging
personality. It has been, and continues to be, a joy to live with him.
CJ was born at 36 weeks by caesarean section. His
hydrocephalus was discovered at the 20-week ultrasound. When he was born his
head circumference was in the 95th percentile.
After all the surgery and the meningitis he was very ill and
no one knew if he would live or not but he came through. He cried so much and
was in so much pain but he always wanted to be cuddled and he won the hearts of
all the hospital staff.They loved to
cuddle him too
Once out of hospital the real CJ began to shine through. He
was still ill and he still had some trouble with his shunt but his great love
of people and need to be cuddled won hearts everywhere.
By the time he was one year old he had started to have fits.
It is awful to see your child having fits but I have grown to deal with them as
a normal part of life. I don’t think that I will ever get used to it but they
are part of life.
He had the gastro tube for feeding and although I hated that
too it also became ‘normal’ but we were determined to get him eating normally.
We were very happy when at 23 months he was no longer using the tube.
By the way the ‘button’ feeding has it benefits. I could
feed him when he was asleep or give him medicine through it thereby overcoming
the problem of medications.
At 22 months CJ was sitting momentarily and rolling over
from front to back. By 30 months he was bunny hopping, standing against the
couch eating and drinking normally. He got off to a slow start but has been
trying to catch up since. Cerebal Palsy causes problems but we are lucky that
his is not as severe as it could have been
Now at 3 years he can climb onto the couch, is using a
walker, has taken a few unsteady steps and can sing a few songs. He can count
to 25 and likes to say the alphabet. He loves books, drawing and music.
CJ will always be different. His doctor has said “There are
so many brain abnormalities we could never say what is what”
But my little boy is always showing that we must never say
“can’t”.CJ is laying down new pathways all the time and his little
brain is learning to do more and more things. He learns through sequences and
we know that we will be able to teach him a great deal.
His epilepsy is a
very difficult thing and I wish it would go away. He sometimes ends up in
hospital because of fits that last up to 40 minutes. I carry medication in my
bag that sometimes stops the fits. The doctor says that the fits don’t do more
brain damage if his breathing stays all right.
Having told you all the problems I don’t think that I could
ever get across how beautiful our little boy is. He has taught us that a person
is SO much more than his diagnosis.Shunts, fits, fevers, cerebral palsy – who cares. He is our
We are older parents and we have older children who love him
and do so much with him. One of the girls is doing postgraduate studies in the
area of ‘disability’ and is able to help us to find new ways to challenge and
help him to develop intellectually.
He gives us so much. It is not easy, don’t get me wrong, but
gosh I love him and he loves me.
Update – March 2004
CJs fits are much better controlled now, and he hasn’t needed to go to hospital in a long time. CJ’s speech is developing considerably, and he is using a number of phrases as well as single words. He has been fitted with AFO’s (ankle-foot orthotics) and his legs are operating better. He has taken a number of unsupported steps and on the last visit to his specialist the doctor told us that he believes he will eventually walk.
Update – July 2004
CJ is now four years old. He is attempting to walk and commonly takes about 8 steps before falling over. His record is 15 steps. CJ's vocabulary is increasing all the time, although he still tends to use his words mainly in groups of one or two, with a few short phrases here and there. His epilepsy continues to be better controlled, and he hasn't needed to go to hospital recently, but he does still have fits at unpredictable intervals. In general, he is very happy when at home, but doesn't cope well with situations where there are lots of people. He is getting taller all the time.
Each day CJ and I do some school. At this stage he knows the days of the week, the alphabet, both the names and the sounds, can count to 25, and recognizes about 10 words although if I get him to sound out he knows many more. CJ learns through sounds. He can't tell colours at all, no matter how hard I try to get him to. His way of learning is different from anyone else's. I am lucky to have his sister Kathy with so much knowledge to help me. I don't know what he is capable of, but we will keep trying to help him to achieve his potential. It is impossible to test him. Everything has to be part of a game and we have had to learn how to keep his attention.
He is a show off and we can use that to advantage. He will do his school, walk, get off his chair and many other things and expect praise telling us that he is a clever boy. Sometimes he does naughty things and says clever boy too.
He talks in patterns. Each word is associated with other words and so we may say door and he will say open. Sometimes it is very funny. The combinations come out in such an amusing way. If he gives me something he says "Thank you. Pleasure"
CJ wants to be in control of everything and sometimes that is a real problem. He tries to get everyone's attention no matter where we are and that often leads to tantrums. I hate the tantrums. He hits himself, throws himself around and often bangs his head. I worry that he will damage his shunt, although the Doctor says that he won't. He is very difficult to handle when we are in a group because of his behaviour. Sometimes I think that I will stop taking him out, because his behaviour is so bad. I won't, though, because we must help him to get past it all.
I hate his fits, too. He has about 2 a month and there is no knowing when he'll have them. He is better than he used to be, but I hate to leave him and if he has slept too long I have to check that he is still alive.
We have moved him back into our room at night again and so nights are better. He still wakes at night. He just needs to know that we are there and then he goes back to sleep. He was disturbing our 8 year old's sleep too much when he was sharing a room with him.
It is funny writing all this and not knowing if it gets read and so it is hard to believe that it is worth keeping going, but if it is read I know that those who who read it will understand a lot more about CJ's progress. We have a new email address now, so the "contact us" link is working again.
Over the past few months, CJ’s ability to walk has been improving very slowly – almost imperceptibly. Although it is sometimes hard for us to notice the improvement because it happens gradually, he can do a lot more than he used to. CJ can now walk from the swing in our yard to the slide, climb up the slide and slide down it, without assistance. He walks quite a bit around the house now, although he also sometimes crawls. If he is walking and loses his balance, he just drops to the floor and crawls the rest of the way, or at least until he finds a piece of furniture he can use to pull himself back up into standing position. He can now set off in one direction, stop, turn and continue in a different direction. He does easily trip on things, but can sometimes regain his balance.
CJ walks with his knees bent, and we are told that this is not good. We are working to improve this by doing massage and stretching exercises. We recently went to see a specialist, and it seems that in the new year he is likely to have Botox injections to see if that will temporarily relax the muscles and tendons at the back of his legs allowing them to straighten more.
We have just returned from a stay of a couple of days on a farm (we went there on the way back from seeing the specialist). CJ really enjoyed his time there, as we all did, despite the rain.
CJ’s speech is slowly improving, too – not just his pronunciation, which is very good, but his ability to use words in a meaningful way. His sentences tend to be very short, and to have an unusual construction. For example, if he wants a drink, he will probably say something like “Drink! Have it!” After you give it to him, he might say “Drink! Like it!” He has also started saying some less expected things. For example, today we were watching a video. When one person on the screen handed another person a flower, CJ said “present”. He still also uses a number of stock phrases like "on the floor".
CJ is back sleeping in his own room. He had gone back to normally sleeping through the night. However, our recent farm stay disrupted this a bit, and he has woken a few times in the last couple of nights. Generally his sleeping pattern has improved over the last few months.
Update – January 2007
In general, Charlie is progressing slowly, but steadily, and starting to show a wicked sense of humour. His behaviour has improved a lot, and we are now able to take him to church and even to the theatre without problem.
The Botox injections initially seemed to help quite a lot, but have decreased in effectiviness each time he has had them, to where they don't seem to make much difference any more. Overall, his walking is a lot better than it used to be, but he still has significant contractures, and the doctors are predicting that things will get worse, and talking about surgery. Overall, he is walking pretty well, and has pretty good balance most of the time. His walking deteriorates for a few days after each major fit that he has, and then gradually goes back to normal. On the advice of the physio we have put in an order for a wheelchair, for use when he is not walking so well, and in case things do eventually deteriorate further. We do feel a bit uncomfortable about it, and hope that it will turn out to have been a waste of money.
Charlie's epilepsy has changed, partly, we think, because his medication has changed. Eighteen months ago, he had very frequent fits (several per week) but most of them were quite minor. Now he fits much less frequently (say twice a month), but the fits he actually does have are much more severe, often consisting of status epilepticus (sometimes convulsive, sometimes non-convulsive, sometimes switching from one to the other). These can last for a couple of hours at a time. We usually end up having to take him to hospital where they stop the fit with intravenous medication, observe him for a few hours, run some tests and then send him home. Following the last one of these, his medication has been increased. He is now on 100mg Lamictal (lamotrigine) b.d. and 62.5 mg Topomax (topirimate) b.d.
Charlie loves flowers and takes delight in the garden. He still loves music and singing. If someone is upset around him he tries to engage them in conversation, and then tries to make them laugh (and usually succeeds). It is very beautiful. His eating is improving and now is happy to eat meals with lumps and varying textures. He also eats biscuits, fruit, cake, and slices of cheese (and as much chocolate as he can get).
Update - November 2007
Charlie has had surgery on his legs (bilateral achilles tendon lengthening and hamstring release). The operation went well, and after having his legs in casts for six weeks, he had them removed and surprised the physio by walking the length of the corridor (using a walker) the following day!
Charlie is walking better in the sense that he is more upright and his foot is flat on the floor. At this stage, however, his muscles haven't yet regained their full strength and his sense of balance is also a bit off. He is steadily improving, however, and we are hopeful that his walking will eventually be much better.
We are still having a bit of a rollercoaster ride with Charlie's epilepsy, but his personality is wonderful, and he is still a delight to be around.
Update - August 2008
Charlie has been walking much better since his surgery, although his tendons have started to get a bit tighter more recently. Nevertheless, he is able to run around. However, he does fall over a lot. He is also not good with long distances, tiring easily. We mostly take a wheelchair or stroller with us if we go somewhere that will involved walking long distances. Around the house and yard, however, Charlie is his own mobile person. Because his tendons do seem to be gradually tightening, we are wondering whether he may eventually need more botox. Time will tell.
Charlie continues to have his own sense of humour, and to charm people. He copes much better now with crowded situations than he did when he was younger, although it is still very difficult to keep him quiet when that is what is needed. Although Charlie is normally continent, he did embarass us recently in a situation where we were in a crowd of around 3000 people, and Charlie was in a wheelchair because it was a situation that would involve a lot of walking, by calling out at the top of his voice in a moment of silence "Sorry I wet my pants, Mum".
Overall, Charlie's epilepsy is better, it is still quite unpredictable, and although he is having less fits overall, we still sometimes end up in hospital with status epilepticus.
Charlie increases all the time in his ability to express care and concern for others, although he always does it in his own inimitable way - typically "You need a cuddle? You'll feel much better!"
Update - February 2011
Charlie (CJ) is now able to jump on the trampoline, as well as walking and running. his gait is still unsteady, and he falls more frequently than most people, but he has a lot of fun, and is persistent with his mobility.
Charlie is intellectually delayed, and also has difficulty making connections between visual cues and other things that he knows. For a long time, we thought he might be colour blind, but he now recognises colours. If you spell out a word to him verbally, he can tell you what it is, but if you show him the same word on a printed page, he probably can't, although there are a number of words that he does now recognize in printed form.
Charlie's epilepsy is still variable, but is possibly improving. He is still generally a very happy person, except when he is angry about something. He remains affectionate, and loves to tell people he loves them.
We have just discovered a glitch which meant that we were not being notified of entries in our guestbook. Hopefully that is now rectified, so please do post in the guestbook. Our apologies to anyone who has left messages we didn't reply to. we are going back through and replying to those messages now!