I was right to be pushy - we finally have an appointment at the Genetic Clinic

[mehgalegs]

Cons paed has been telling me she'll refer DS4 for over 2 years now.

I finally got round to making a few calls, slightly pushy, and low and behold we have an appointment next month.

Prof Patton from St Georges, any one know him?

What's next? I understand they ask about family history and DS4 will require a blood test. Prof wants to confirm it's not Angelman's Syndrome ( I think it is - place your bets)

St George's SW17?

Glad you got your appointment- hope all goes well, whether he has it or not.

(Don't have any experience of St George's- our friend attends M/cr.)

Yes, St George's Tooting although our local hospital here in Sussex runs a monthly clinic so the appointment is down here.

We saw someone from George's who came to our local hospital (not the person you mention). It was as you said lots of family history and a blood test for DS1. We got no answers (DS is deaf) but we knew that unless he had a couple of very specific conditions it was unlikely. We were recomended to put our siblings in touch with them if they went on to have kids and the blood will be kept for reference as more genetic causes of deafness are discovered.

I haven't had experience myself Meghalegs, but I work there, so will see if I can find out anything for you. (Dd1's care is mainly there too)

Thanks Geogteach - there is alot of dyslexia dyspraxia type stuff on DH's side of family (my side is of course perfect in evry way )so I'll consult MIL for full history.

PP - that's v.kind. I used to live in Balham so had all my ante natal care with DS1 at St George's.

The only bit that worries me is the blood test. DS4 has terrible veins, it's always stressy, although being oldernow he might be more easily distracted and comforted.

I have convinced myself that he does have ANgelmans as he fits the profile so completely, especillay the fascination/obsession with water (apart from the seizures but they can be late onset or not present at all in 20%).

The paeds at SGH are great for bloods - my dd had a shunt revision in Aug, and having been an ex 27 weeker her veins are tiny and shot to pieces from early intervention. The Paed Registrar was fantastic at getting the bloods from dd1. Hope that reassures a bit maybe?

I remember first being referred to the geneticist (at St. Helier, my local hospital) and feeling relieved that we/I might finally get an answer for my DD.

She was nearly 3 and the geneticist we saw thought she knew 'what' she had and called in another geneticist who speciaised in this other condition. This 'specialised' geneticist diagnosed my DD by her visual appearance.

Luckily they had blood stored from my DD so didn't have to take blood again, but they did take blood from my (ex) husband and myself to make sure we were not carriers.

I remember leaving the hospital with the verbal diagnosis (whilst waiting for the blood diagnosis), I then read all about the syndrome (Sotos) and for once recognised my daugther.

When we finally got the results through, I was a bit upset seeing it in black and white but wasn't really shocked.

Within 2 weeks of getting the verbal diagnosis, I joined a charity that helped and supported Sotos Syndrome (Child Growth Foundation - deals with overgrowth and undergrowth in children) and I attended a conference that same month. The geneticist that verbally diagnosed my DD did a talk on the condition and she was so specialised, I realised that if she had diagnosed my dd visually, then she more or less definitely had Sotos (delayed development and overgrowth).

I am now off to the CGF conference again this weekend in Northampton (I live in Surrey). This will be my 4th conference (missed last year as was on holiday).

For me, finally seeing the geneticist finally crossed all the t's and dotted all the i's (if that makes sense).

Hope you get the answer you are looking for, if it is answers that you want.

Yes Bumble, we'd definitely like some answers. He has had several blood tests before so I hope they may still have some of his blood stored (fingers crossed).

I still realise that we may never get a dx but getting this appointment at last has made me hopeful again.

Getting a dx (if we get one) will be another of those bizarre madly mixed emotion things, happy to finally know what your child "has" but sadness that they have to have it. A sort of sad relief.

Dd3 sees the geneticist at St Georges, not that one though. The lady we see is lovely. She asked LOADS of questions about both sides of the family and spent ages staring at our faces whilst talking to us. Dd3 was diagnosed on the spot, but I don't think that's overly common! They decided she needed an mri scan, a skin biopsy and bloods which was thankfuly all done at the same time under ga a few weeks later. I think what tests they run depends on what they think the child has.

You can ask them to store blood so that you don't have to go back each time they want to run more tests. We've also found that blood results can take a couple of months to come back sometimes.

Is your appointment at St Georges? If it is, the parking there has got a lot worse than it used to be, as well as more expensive! I think we were there for about an hour and a half for dd3s first appointment.

Hope you get some answers.

(Bumblelion, you must be near us, Queen Marys is our regular stomping ground!)

Hi Meghalegs, feedback is he is the top bod, and he is very good and very nice. So good luck.

Agree re parking, the main entrance is being redone at SGH, so parking spaces have been removed, including blue badge ones. The main car park is quite big, and you can use blue badges there (take the badge with you, and get the ticket stamped and validated at the window by securityinside the hospital on ground floor) otherwise it is around £2 per hour. I was told that spaces in the roads around the hospital are cheaper.

Sorry I mean SOME parking spaces have been removed - not all!!!

PPS If your appt is on a Tuesday please come and meet me!! I work Tuesdays at SGH, and 1 other day from home.

Hi can i just poke my head in here and ask a few questions.

Our DS has GDD and our paeds have done tests for mosaic downs which came back negative she now wants to do genetic testing because his siblings are normal. Now the thing is he is adopted so does that mean that they will need to contact his birth parents and take blood of them as well, becuase it could be tricky for us.

Megalegs i would also love a diagnosis just to make life a bit easier for us.

Hope it goes well for you all/

PS am just applying for DLA do you think we have a chance of getting it with just a diagnosis of GDD or not.

Thanks for helping me

Thanks for all the info - glad to hear Prof Patton is top bod.

We don't haveto come up to St George's the local hospital here does a clinic every few months.

mummtwhereareyou - re the DLA. DS4 receives middle rate care and we are waitind to hear about mobility. Deffo apply. The forms are a bit harrowing, you have to really emphasise your child's problems so it canbe hard. I agree with FioFio, get someone to help you fill them in, we had a lady at the CDC who helped us, she was great, knew the lingo etc

mumwhereareyou, My daughter has GDD and we get middle rate care and low rate mobility.

Also when my daughter had her genetics test they didn't take blood from us but asked questions on family medical history.

Cerebra do an excellent guide for filling in the DLA forms.

We have genetic tests done - they took blood from DS1 but not from us. They are not looking for similarities to biological parents.

Mumwhere are you - agree with Fio. You do not need any diagnosis - just a set of reasons why child needs significantly more care or supervision than than an average child of the same age. Cerebra have a good guide for filling it in.
Genetic test are done (If I have understood correctly) for 2 main reasons - first for the affected child diagnosis (childs blood tested), the second is for the wider genetically related family (ie to understand implications for planning more children) in which case tests on other family members may be requested. HTH

I never thought of that Magso but then we're not planning more children !

mehgalegs - best of luck with your appointment. You've probably researched this already, but there are several types of angelmans syndrome - with different tests required. The most common is deletion, then mutation and UPD. It may be worth pushing for as many tests as possible to avoid dragging things out. My DD has angelmans syndrome so let me know if you have any questions.