Geneticist tomorrow

[misscutandstick]

I dont know if anyone remembers me mentioning this last week, as I had a Paed apppt last week and wondered that if i asked, wether or not i would be told what the 'problem' is (im not expecting Dx yet, but that would be nice!!!)

I said that i thought it would be fragile X, the general consensus thought i should ask anyway...

so i went to appt. Paed had his 'sincere and serious' head on. which was unusual, hes usually very upbeat and jovial. then he started to ask questions that led me to beleive that he knew what the problem was. They were very leading questions...

So i bit the bullet and said "so, i need to know, is it fragile X?" he blurted "NO", taken aback i stuttered "but i was prepared for that, if its anything else im not prepared to hear that right now" DH said that i feared that if it was FXS then it might be something worse

Then he rummaged through his papers and told me that "i dont think its FXS, errr i dont think i have any results for that, I errrr dont think we've tested for that, but im sure its not" (this from the man that denies that DS5 has any food intolerances either, and hes wrong about that too). Then he was very proud in telling me that all they had done was map DS5's DNA and stuff and they hadnt actually looked at anything in particular. that was over 3mths ago!

so now im left with 'no they havent tested, and we still dont know'. i was under the impression that they had found something as ive been asked to see the fabby geneticist tomorrow... why else would i be given some of her time? so instead of answers, it looks like im left with more questions - as usual. And lets be honest, another professional to run through 2yrs of life history...again.

so im sending good luck vibes for everyones hossy ops this week, including NMC who's in tomorow too.

Not really sure how I feel about tomorrow, guess not as nervous as I did last week!

Good luck misscutandstick, we thought my dd had fragile x before she was diagnosed so I looked into it a bit.

Also understand the frustration of going through the entire history a million times this happens to me every hospital trip it is so frustrating. Sorry not much help just wanted to answer.

Good luck tomorrow.
What a week we are all having. Tomorrow we go back to see neuro to see if DSs infantile spasms are responding to the meds at this dose. I suspect it will be increased .
Never mind - lets hope santa brings us all something nice. Good news perhaps

Hope things go well tomorrow.

aww thanks guys, its lovely to have moral support on here {{{HUGS}}} will let you know if anything interesting happens.

good luck feelingbitbetter - hope you are feeling a lot better after tomorrows appt.

Hmm, my week has picked up because DD's normal teacher is back not nasty substitute teacher, so I'm sending positive vibes for the rest of you (especially NMC!) Let's hope for a good Friday and a nice weekend

misscutandstick so sorry you not got any answers yet(hugs)

feelingbetter good luck today

So sorry you haven't been given any answers. If it helps at all when we saw the geneticist originally we also hadn't got a diagnosis for DS2. She talked us through all that they would be testing for and measured his ears, head, forearm etc, and then she measured ours. Was quite odd. Actually it was rather like a counselling session to prepare us for a diagnosis iyswim.

She took more blood on the day, and we got a diagnosis several weeks later. I know not everyone is so lucky.

I hope that is not as bad as you fear. x

thanks again everyone.

been back a little while and re-playing every conversation in the hour long meeting (like you do!)

It was a little wierd, because the geneticist didnt look like she agreed with much that the Paed said, the Paed made me out to be a liar (more about that in a mo) and the secretary sat stroking her nails for a living!

The paed is the kind of person that just listens to the last couple of words you say and runs with what he thinks you might have said i always want to ask him to repeat what ive said to him to make sure he understood what ive just said . So when the geneticist asked about DS5's milestones i quoted that he smiled at 3mths, sat at 11mths and walked at 14/15mths. THe paed said "well ive got written down here that YOU said he sat at 7mths" - i explained that he sat WITH SUPPORT at 7mths, but unaided at 11mths" it just made me look like a liar! the Paed has done that about loads of things.

Fortunately on a few occasions the geneticist looked very sceptical when the Paed was talking - basically like she didnt believe a word of what he was saying.

So to summarize and conclude: she DOESNT think its Fragile X - reason?: because he wasnt very active.... hes had a raging temperature and a really heavy cold for a week and not eaten a bean! not active eh? well what a surprise there! ANyhoo, shes says shes going to do a basic once-over on the chromosomes as a first test, and then if they dont find anything, ask me back and see if theres something specific they think they might look for. She is optomistic in finding something if they look in the right place, because its a possiblilty that it is something genetic thats causing both the learning problems and the autism symptoms and the food intolerances...

always come out of these meetings seeing my child in a slightly different light tho and it takes a little while till you 'see' the real 'them' again doesnt it? maybe its just me, im hoping not....