Blue Bear and Tamum and any other geneticists..we are being `presented at conference'

[merlot]

Hi There

Not been on here for ages, but those of you who remember me, we now have a more specific diagnosis. DS2 has a partial trisomy of 15q. What does that mean? Well I dont think anyone knows for sure. Apparently it is really, very rare. What we do know is that my sister in law has now been genetically tested and she shares the exact same change as ds2. However, genetic conditions often express themselves in different ways and Ds2 looks like he is more severely affected than his aunt who has only moderate learning difficulties and lives independently.

The main reason for this post is that ds2's chromosome anomaly is so unusual that our case is being presented at the York Annual Conference for Human Genetics on the 18th-20th September. So any of you geneticists suddenly see pictures of me and my lads pop up on a flip chart you wont fall off your chair in shock!!

Any of you going to that conference?

Merlot xx

wow!

Hi Merlot - first time I've had my name on a thread title and I've been here for 5 and a half years

Wow - I'm very impressed that your family are being presented at York - it is the major annual UK conference (my boss is going but I am minding his seat back in London )
I hope you've had good explanations etc from your clinical team.

(I might have said this before, but have you ever looked at 'unique' - it 's a charity that is run by parents of children with very very rare chromosome anomalies. Just a thought).

at your name in a thread title Bluebear (anything to oblige!!)

Yes, I was very surprised that our case is being presented at York. It is to do with the fact that ds2 carries an extra copy of the IG1F gene our research geneticist has always suspected has been involved with overgrowth, but in other cases there have always been other changes which have meant that they couldnt exactly pinpoint the IG1F gene as being responsible for growth or something like that. Apparently ds2 and his aunt have a `pure' change??

We are working with two very impressive lady geneticists at the moment, which is wonderful. They are super knowledgable, confident and inspire an awful lot of confidence. It is just rather a shame that we weren't exposed to their expertise before ds2 came on the scene (find that hard to say really, but tis true)

There have been a couple of woolly excuses about the change not being picked up by CVS test along the line of....well, these tests are normally eyeballed and it depends on the expertise of the individual and if it had been done at St.Georges rather than Kings it might have been a different story

Anyhow, we are mega busy moving house atm, but once that one is ticked off, we are going to probably take it further.

It is such a difficult one...because in one way I am saying I'd rather that ds2 hadnt been born (life would have been so much easier and ds1's life would have been more plain sailing)..but on the other hand I look at dear little (or big!!) ds2 and think I'm his mother - how can I wish that he wasnt here. Then all of a sudden I see a glimpse of the future and think..OMG if ds2 needs lifelong care, then I want him to get the very best..and if there has been `medical negligence' and he were to receive some sort of compensation it would go to securing his future.
Rambling now...

Anyhow, thanks about the Unique suggestion. It has been mentioned to me before, but I had forgotten about them. I think I might give them a call now we have a clear diagnosis.

Hope you are all ok.

Hi merlot - haven't seen you around for ages!? Time flies doesn't it - I've just dropped dd off for her second day at the local SN school (in the nursery, time hasn't passed that quickly!).

I can imagine how you must feel about the lack of pre-natal advice offered at the time, it must be very hard. We still have no dx for dd, despite having been to GOS to see various people, so I suspect that she is truly unique (or is until medicine advances further). As time passes I feel far more relaxed about no dx, although obviously it would make life easier if we had a name for her condition (with useless SS for example!).

Take care, chonky x

Hi, We are moving house too, hectic isn't it!

Glad you've got some good people working for/with you now.

I have a feeling that King's used to send their cvs's to a private lab for analysis whereas George's have their own NHS lab, so you might be experiencing a bit of rivalry between the two. ie. George's looking down at the private one. Did you get to see some photos of the chromosomes?
I would guess that there a lot would ride on whether or not there was an available FISH probe for the 15q region at the time of the cvs (it is readily available nowadays but might have been still in research at the time of the cvs).
Anyway, hope the house move goes well, and you all keep well.
Best wishes

Hi Chonky and Bluebear Sorry, I havent replied before. Housemoving is deffo taking over. Should be `in' in 3 weeks, so things should return to normal.

Lovely to hear about your little dd Chonky. Time is certainly flying. My ds2 has just has his 3rd birthday. He now has a statement and a place at a special needs nursery three times a week. So I feel that we are getting so much more support compared to the early days without dx.

Thanks for your tip about `Unique' Bluebear - it really was worth contacting them. Unfortunately, it has convinced me that I need to investigate medical negligence with regard the whole ante natal genetic testing stuff.

Merlot, tbh with something as rare as your DS's it is highly unlikley that anyone could reasonably been expected to pick it up on a prenantal screen unless they had been specifically primed to look at that partic chromosomal area. Not going to York this year, but have been many times.

Hi Lohad, I can see why you would think that, but tbh that is the issue, they were primed to look at that Chromosome and also they knew that DH had a balanced translocation on that gene, so that should have done more detailed tests on the chromosome antenatally, but they didnt.