Here are some suggested organisations that offer expert advice on SN.
feeling a bit gloomy in limbo land....(11 Posts)
have just got off the phone with ds's genetics nurse, he is being tested for Kleefstra syndrome and she has just told me they are testing for the mosaic form of Downs syndrome (he has characteristics of both syndromes). She basically rang to say there that part of one test came back clear, but this is not conclusive, and the cheek swab they did failed and they were unable to get a sample, so he may have a skin biopsy. She is meeting with the geneticist on Friday and wondered if there was anything I wanted to ask her. I said I would email her any questions, because I was on the spot making snacks for 3 children.
I am just feeling fed up, most of the time I amble around limbo land just trying to focus on ds, and the dds, but every so often I look up and realise where we are, and it all feels a bit grey and drizzly and uncertain. I hate this feeling of not knowing where we are. I don't know why it is so important to have a name for whatever is going on with ds, but the worrying and wondering is like the most annoying gnawing itch ever.
Anyway, I just wanted to have a moan somewhere, and this is the only place I can think of!
Ahhh hazeyjane. ((Hugs)). I know what you mean. We are still looking for a genetic dx of Treacher Collins Syndrome. 13 years on and they still can't locate it in DD. My DH can't see why it bothers me, I just want her and DS to have options should they ever have a family of their own.
Hazey, have you been on skinuk lately? There used to be a large group of posters with much older kids doing the genetics rounds. I remember one boy getting a confirmed dx at 15, eventually.
Keep moaning though, get it off your chest and crack on. Our wait was only two years, so we were easy. It's no fun, not knowing.
Thankyou, I can't imagine waiting so long, but I suppose in the world of genetics we could be waiting for an awful long time.
I met someone the other day, whose dc's genetic condition hadn't been discovered until they had done tests on spinal fluid and then a muscle biopsy - have they done anything like that with dds, Sallybear?
If I try and articulate why it seems so important, all I can come up with are seemingly trivial reasons (easier to explain to people, easier to access help with a diagnosis - I don't even know if these things are true!), but the real reason is something I can't really put my finger on.
Madwoman, do you mean swanuk? I don't think I have been on skinuk?
It makes complete sense to me, that you want as much knowledge as possible about what might be the cause of your DS's developmental difficulties, as it's a way of reducing to an extent some of the uncertainties, or at least gives you something tangible to hold on to. I hope you can get some more definitive results soon Hazey.
No tests other than bloods. I wouldn't want to put her through spinal taps and biopsies. Poor kid has enough to contend with!
At the moment I'm torturing myself with the fact that DS4 ASD may be related to a brain condition identified at 22weeks gestation which had gone by the time he was born. I suppose I am using that as a reason to explain WHY he so behind in so many areas.
No, I can see that sally. It is a difficult one, isn't it. I am annoyed that it all seemed to happen the wrong way round with ds - starting with a brain scan and some awful blood tests (12 samples in one go, having to be put in long needle thin glass tubes, so took nearly 45 minutes to do bloods, by which time ds had nearly passed out), all of which were clear, rounds and rounds of blood tests, only for a geneticist to take one look at him and say, 'oh yes it looks as though your son's delays are the result of a genetic condition - now it's a case of finding out which one'
The genetics nurse said that the skin biopsy is a fairly simple procedure, though, with a local anaesthetic, and a small scrape of skin? Apparently the skin biopsy is the most reliable way of testing for mosaic downs, it is odd because the genetics nurse seemed to think that I knew that ds was being tested for this, but I didn't have a clue, so it has quite thrown me - apparently he has all the characteristics.
Special kids in the uk. Not sure what acronym they are using these days! It used to be skinuk...
I will join you in the limbo land. dS2 has been booked for a host of tests, bloods, MRI, genetics etc to identify what's causing his difficulties so we are probably going to be waiting for a while as well to get some answers.
Dev9aug, good luck with all the tests, I am rubbish at the waiting.
Hothead (less formal!) that is a good point, my friend's ds has a genetic condition that sounds like a random series of numbers, and is almost unique. She always says that he has a condition very similar to Downs syndrome, when she discusses it with people.
I have always said that he has global developmental delay, but that only covers a part of his issues, and people always start talking about him catching up, which is kind of depressing.
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