To give a bit of background, DD is 25 months. We had our first paed appointment 2 months ago when we were told she has a GDD delay of 8 months and referred for hip x-ray, hearing and eye test, physio, SALT etc. All was looking quite positive as she seemed to have hypermobility (but physio said once she built up her muscle strength to compensate for her joint flexibility there wouldn't be anything she couldn't do) and a speech delay.
Anyway on Friday we had our second appointment with the same paed in which he told us that the genetic blood tests were 'not normal' and she has a duplication on 7p22.1. He read the letter from genetics verbatim, at the end both DH and I said in unison 'what does that mean?'. To which he replied that he didn't know as he wasn't a geneticist! We asked if the duplication was life limiting or life debilitating and if it effected my DS, all of which he replied that he didn't know. In the end I said I would just go and google it and he said 'yes I can't say that I wouldn't do the same in your position!'
The paed also said he needed to get us back in to take our bloods to see if the duplication was of clinical significance, at which point my husband demanded that we get them taken there and then as we wanted to know as soon as possible. He didn't explain what 'clinical significance' meant despite me asking - I subsequently found out from ringing Unique that if my husband or I have the same duplication then it possibly won't be the cause of her delays (unlikely but possible).
In addition my husband noted that the letter from the geneticist which the paed said had just arrived on his desk that morning was dated 5 weeks previously!!!
I understand that the paed does not know the detail that a geneticist would have but surely this can't be the normal practice?! Shouldn't the paed have more general information, or we get the news from the geneticist so he/she can answer our questions? Just wondering if anyone has any experience of getting this type of news and how it was delivered? For us it just seems to have made a terrible situation so much worse...
Here are some suggested organisations that offer expert advice on special needs.
SN children
Given news on genetic tests in the most awful way
LadyDowagerHatt · 27/07/2015 19:47
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