CJs PAGELast updated 24 August 2008 11:10 pm (Eastern Australian Time) |
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BackgroundOur 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. |
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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 - August 2008 |
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