What is it about?

The rollercoaster adventures of parenting three kids, dealing with disability and mental health - and discussing disability discrimination and how to tackle it.

Wednesday, 2 July 2008

Big Week - Wednesday

On Wednesday, we had our first meeting with our new neurological team.

When we first took Beaver to the Rehabilitation team at the Physical Disability Clinic at Westmead Children's Hospital, the Dr. Adam Scheinberg made it quite clear that he was not sure we were looking at a "classical" case of CP (if there is such a thing). But for all intends and purposes, Beaver was presenting like CP, and so he gave us that official diagnosis (after we specifically asked for it) in order to access services.

In late 2005 life was getting a bit easier. We realised Beaver was a bit unusual from his peers with CP, and we felt we had a bit more "brain space" left to pursue the cause of his disability. Off we went to a neurologist, who examined the boy, ordered and MRI and spinal lumbar puncture, and a whole raft of blood tests (metabolism, thyroids, etc,) and told us that, according to her, we were dealing with a genetic issue, and we were lucky that Possum was unaffected. Well, that wasn't quite what we wanted to hear – as we had just found out that despite me having my tubes tied, we were expecting Boo Boo. Talk about a bombshell. Anyway, to cut a long story very short, around the 4 month mark, we realised Boo Boo had indeed the same condition as her older brother. And this provided us with some answers.

The fact that we have a boy and a girl with the condition - and the fact that a thorough investigation of Beaver threw up no obvious syndromes or diseases – tells us we're dealing with an autosomal recessive hereditary condition. Put simply, this means that Hubby and I have a fault on exactly the same spot on the same gene. We all have numerous little genetic faults that don't particularly bother us. Hubby and I are carriers for this disability our kids have, but since we only inherited the fault from one of our parents, it doesn't bother us. When we make babies, however, we have a one in four change that both of us pass it on to our kids and they are affected by it, a one in four change that neither of us pass it on, and a two in four chance that one of us carries it on and our kids are carriers.

So that's as far as we got. Then our neurologist left town, passed us on to another one, and a really famous one too. He saw us, suggested an MRI scan as a benchmark for Boo Boo, and that was that. We agreed to a scan, but never heard anything, never got a follow up report.

As we all know, so often in life it's who you know rather than what you know. Turns out our friends Blair and Enrico are friends with a top genetic neurologist, and they were appalled that we hadn't progressed any further. So they gave us a phone number, followed up with a message to the neurologist that we were friends – and we got to bypass the 6 months plus waiting list.

So on Wednesday, we met with Professor Kathy North and Dr. Richard Webster. It was a big day for us. Beaver was very anxious about it all, he's really come to the age where he wants to be left alone and hates it when others discuss him in terms for his disability. I get that. But it's one of those things in life he will be confronted with again and again and again. Of course, the first day after his bullying event wasn't too good for his fragile self-esteem, but what can you do. I wasn't going to cancel on an important appointment that takes months to get.

We talked about it quite extensively with him beforehand – he was very keen to know what they were going to do with him, and why they wanted to see him "because there is nothing wrong with me". But despite all our preparation, we completely forgot that they would want to weigh and measure him and take his blood pressure. What a palaver that was! All he had to do was stand or sit on a big scale (they cater for kids with a physical disability there), stand against the wall and sit in a chair. He steadfastly refused all three and sat, slack as a rag, on Daddy's lap! And that was only the pre-appointment check by the nurse!

Thankfully he settled down a bit after that, and managed to get through the actual examination with Kathy and Richard quite well (I love the Australian casualness, it so helps to reassure the kids!)

And their verdict, you ask?

Well. It’s definitely autosomal recessive. It's physical. And it's probably a protein or glycoprotein that's either not make or made in insufficient levels.

They seemed to think that the problem lies in the white matter of the brain. As wikipedia explains:

"The white matter is the tissue through which messages pass between different areas of gray matter within the nervous system. Using a computer network as an analogy, the gray matter can be thought of as the actual computers themselves, whereas the white matter represents the network cables connecting the computers together. The white matter is white because of the fatty substance (myelin) that surrounds the nerve fibers (axons). This myelin is found in almost all long nerve fibers, and acts as an electrical insulation. This is important because it allows the messages to pass quickly from place to place.

The brain in general (and especially a child's brain) can adapt to white-matter damage by finding alternative routes that bypass the damaged white-matter areas, and can therefore maintain good connections between the various areas of gray matter."

In particular, they were putting their money on cytokines. Turning to wikipedia again

"Cytokines are a category of signaling proteins and glycoproteins that, like hormones and neurotransmitters, are used extensively in cellular communication."

This is fascinating information. It fits with our observations – Beaver has made progress in unexpected areas, which could be because his brain has found new pathways, He also responded remarkably well to glyconutrients (which produce glycoproteins ) so I wonder if there is a connection – and I've put him and Boo Boo back on them.

But is it useful? Well, no. Not yet.

Maybe one day, we can work our which gene holds the mistake, and which cytokines (or protein, if you like) is lacking. And then, we might be able to give that to the kids and reverse some of the damage. Maybe. One day.

For now, the team think we are very interesting case – isn't that nice to know. We do not need to get an MRI for Boo Boo, which is very nice (as it would need to be done under a general anaesthetics) since both kids have the same, and we have a baseline for Beaver. We might do another MRI, or a functional MRI and an MRS (a chemical analysis of the brain) when he is older and can do it without needing a general. They are looking for a research institute that specialises in autosomal recessive genetic disorders to further test us – apparently they are working on a linked DNA test (which should be available in the next five years or so) where all of us would give DNA and they would look for the differences, and then examine those more closely. This would spare us long (and expensive) individual DNA analysis in which we go for an endless fishing expedition because we don't know what we're looking for. Sounds logical to me.

And in the meantime, we continue with therapy – the doctors were very impressed with Boo Boo's ability with the power chair – and need to take Beaver back to Dr. Scheinberg at the Physical Disability Clinic to get his feet checked. His Achilles tendon is so tense that we're going to run into problems some time in the near future, and something (splinting, Botox, surgery) needs to be contemplated.

Oh dear.

1 comment:

manfred.fabig said...

Alles wel heel interessant, maar de fijnheden begrijp ik toch niet en wij zullen wel hierover vandaag of morgen bellen.