Fragile X - financial decision to make.

[misscutandstick]

I have for some time suspected that DS5 has Fragile X. The symptoms fit like a glove.

The paediatrician has over the last year put in place all help that is needed and im pleased about that. He isnt at all convinced that DS5 has fragile X, and thinks that we will never find a cause for the autism traits, learning difficulties, lack of speech and GDD.

He has however got a geneticist on board to see wether theres anything worth looking at. The geneticist doesnt think its fragile X either, because of the small amount of people who have it (???), so its unlikely she says that its that (???). She is doing a general chromosome screen which will find deletions, copies, and transpositions. But there is a waiting list of 9mths in this area for results.

However having just read on the Fragile X website that the vast majority of people with fragile X can only be detected using specific DNA tests, as opposed to generalised chromosome tests (unless its a very severe case of over 300 or so repeats) that it wont get picked up anyway.

A quick search on the net showed that a private fragile x test takes 3wks and costs £315. I suppose i could afford it if we scrimped for a couple of months... but if it is fragile x and the repeats are big enough then the chromosome tests might pick it up anyway, and the results arrive in 9mths saving me money but a long time to wait...

Does anyone have any thoughts please? does anyones child have fragile X? WWYD?

I would go with the NHS tests, then if nothing shows up on them, consider having the test done privately. Doublecheck with geneticist whether NHS will do the DNA testing first though before going private.

they will do the DNA testing, but only after the chromosome ones show nothing. I asked, shes not willing to do those at the moment - guess its a financial thing with her too.

Well, i had a good chat with DH, and he just wants to see me happy and settled - without having a constant 'is he/isnt he' thing in the back of my mind. It wont change DS5, but it will settle things for me either way.

So we have done the deed (bless DH, and bless DS5, im not sure if its a good or bad thing, but DS5 seems to be getting used to having his bloods done ), and have sent them off to the lab.

Just a 3wk wait now...

Too late now but I would have gone privately too. Too long to wait.

always nice to be given the thumbs up tho NAB, thanks

When Ds1 was diagnosed he had the bloodtests done as a matter of course because very young children do not always show the characteristic physical appearances for example, so it can't be automatically ruled out. It came back negative but I am still tryign to work up the courage to ask about retests, because there are a lot of signs and with Ds2 still not speaking I need to be clear there definitely isn't something like fragile x in the family.

Bullet, i have only just found out that it cant be clearly ruled out until the specific test for it has been done (PCR/southern blot test - which come back as numbers of copies rather than a yes/no answer) which mean that basic chromosome analysis really cant tell you if its possibility or not. They used to use the chromosome analysis until they figured out a more specific test, and then they realised that 90% of the people that had the test who actually had Fragile X had come back as a 'negative' when that wasnt the case at all.

You could ask your paed for the results again, and if he cant give you the number of repeats, then the correct test wasnt performed. Im sure that if you say it with a smile and be all cheery and just ask for clarification as you've forgotton, then it will go fine. Then if it hasnt been performed you could express why you think its a possibility and ask for it to be done - its actually a lot cheaper than a chromosome analysis, and quicker too. good luck.

My ds had an NHS test about 6 years ago using a blood test and I don't remember waiting very long for it.

not a parent of child with fragile X but worked I SN with people with this diagnosis at the time Northwick Park hospital in London was doing a study and was doing genetic testing
I expect you know a fair bit about Fragile X and I would contact the association they meet regularly and are very supportive

also a few years back there was a doctor at GOSH doing a study since the late 80's I think he retired but his team still do follow ups with children, now adults, who he saw back then

I think you've done the right thing - you could have waited the best part of a year for the other results and still had no definate news.

Im in a small area that fortunately you only have to wait (please dont lynch me!) 10days for a speech therapist to give your child weekly hourly sessions... the down side, the waiting list for blood chromosome analysis IS 9mths (perhaps we have to use the neighbouring labs and technicians, or perhaps they've spent the budget on SALT's instead of lab tecs, I dont know). It also depends on the blood test being ordered, ie. the basic ones: HB, ferritin, gases, alkalinity, IgE and Iga etc all took just a couple of weeks.

Thanks Northern, that was my worry too.

Thankyou christie, it is nice to hear a positive story rather than all the dreadful medical type stories.

I TOO AM WAITING TO SEE A GENE DOC THE WAITING LIST IN MY AREA IS SIX MONTHS MY SON 26MONTHS GOT GDD AND HAS ALL THE BASIC BLOOD TESTS BUT STILL HAVE NOT GOT A ANSWER

mishmash, how much longer do you have to wait to actually see the geneticist? I hope the waiting list for the bloods to be done after you have seen the geneticist arent very long. Does anyone have any idea whats causing his delay?