Its been a tough week. My son's chromosome tests came back. We knew he was clear for Fragile-X, the only chromosome condition the pediatrician was concerned about. Last time we saw the pediatrician it was pretty much a case of "unless the chromosome test throws up something very unexpected we'll be able to make a definite diagnosis of dyspraxia." So I'd been thinking it would be something of a formality. the pediatrician felt it is almost certainly dyspraxia, but she wouldn't be doing her job properly if she didn't rule out the rarer alternatives. It threw up something unexpected. My son has a supernumerary chromosome. Its very unusual, not linked to any know condition, and basically they have no idea what it means, or even if it's causing any of his problems or not. So we're on another waiting list for more tests. Luckily my mum knows a bit about chromosomes through her job, so I was able to ring her up to ask about it. Until this result came back I knew nothing, except that there were X and Y chromosomes. I couldn't get through to the pediatrician until later (results came in a letter) so talking to mum was a real relief. What I know now, having spoken to my mum, the pediatrician and another friend who's studied genetics - everyone has 22 pairs of chromosomes plus the sex chromosomes, which makes a total of 46. They control everything, they're the instruction book for our bodies, covering everything from hair and eye colour to heart rate, and can predispose you to certain conditions. Mutations can cause medical conditions like Downs syndrome, or can be inconsequential. My son has a small extra chromosome. It could have no apparent effect, just a strange blip, completely unconnected to his dyspraxia symptoms. It might have come from nowhere or it might be inherited - me and his dad are going to have to be tested to find out. Measuring chromosomes is getting more detailed as technology progresses, and the understanding about what the results mean is not developing as quickly as the technology. It may be lots of people have this chromosome, but most people aren't tested or it wouldn't have showed up on older tests. Some chromosomal abnormalities make people more at risk of cancer, its more than likely that others could make you less likely to get it. What they know it isn't is dyspraxia. If dyspraxia was caused by a chromosome they would have found it by now. What they need to find out, and I have no idea how they do this, is whether this chromosomal anomaly causes him developmental problems very similar to dyspraxia, or whether he has dyspraxia and a completely unconnected chromosomal anomaly. It will take about 2 months to even get to the arranging an initial appointment stage of the waiting list. I got very upset the day I got this news and the following day. Not because I'm particularly worried about my son, no more than usual anyway. He's always had this, it's not going to change, we just need to find out more about it. Its more likely that its nothing serious (I'm hoping it will be the chromosome for his bald spot - my dad and my dad's dad both had the same bald spot as my son and I have a blond streak where they have it). 70% of people with a supernumerary chromosome will not be affected by it. It could even be something good/beneficial. What upset me was feeling like we're back at the beginning again. My son was 16 months old when I started trying to get him assessed for his hearing and speech. As he's got older every time something improves it seems something else crops up. Waiting list after waiting list. Appointment after appointment. Test after test. Report after report and then getting referred onto another set of specialists to start it all over again. I though if we got the definite diagnosis we would at least be able to go to school and to SENTASS and all the other specialists and say "He definitely has dyspraxia, how can you help him cope?" I thought the pediatrician was the last in the line of specialists we'd need to see. Now there are more. He'll still be getting support. He's on the waiting list for Occupational Therapy (more waiting lists) and they'll be doing a joint physio and OT assessment of him in November. He's also on the SENTASS motor skills waiting list. He's done so well with his speech and language since Easter that they're giving him a term off from one on one therapy, to give him time to consolidate all the things he's learned. They'll still be keeping an eye on him. One term of intensive speech therapy has changed his speech beyond all recognition. I really believe he'd make great progress with his motor skills if he had intensive support in that too. I felt like having a definite diagnosis of dyspraxia would help me fight for that. And it does feel like a fight. I feel like I've been fighting for years to get him the support he needs, and just when I thought the fight was going to get easier I'm back at the beginning. I sometimes feel like I can't keep on doing it, but I know I will. I know I have to. But if I struggle now how would I cope if he did have something more serious? Again, I know I'd have to. I hope against hope I won't have to though. It probably didn't help that last week I decided I'd have another attempt to come off the anti-depressants I've been on for about 5 years now. These are one of those officially not addictive anti-depressants that 3 in 10 people will have horrible symptoms while trying to quit! Coming off them will take months of gradually reducing the dose. It maybe made me more weepy than I would otherwise have been, but I reckon getting weepy after this week is not an over-reaction! And if I can cope with this week on a half-dose I can probably cope with anything! I don't want the whole entry to be negative. Both children did fantastically well in their school reports - parents evenings are next week. I finally got the vinyl flooring laid in my kitchen and dining room. I've very nearly finished that pair of socks! I saw Shrek the Third with my kids and we loved it. I say Harry Potter and the Order of the Phoenix with my boyfriends kids, and we all enjoyed it but the 2 of us who'd read the book thought the book was better. Lots of positive things have happened. __________ Anyone reading this who doesn't know about dyspraxia can find out more by clicking here. | 
