Geneticist appointments??

[Linny]

Does anybody know or has anybody had an appointment with a geneticist in the UK?

I only ask because we are still waiting for our referral to speak with them and were referred 12 weeks ago! It seems so long, especially when you have so many questions....

 

[sequeena]

My son has only just been referred so I'm not any help but from what I've been told it does take a while.

 

[RachA]

The appointments do take quite a while to come through. I can't remember how long ours took. We were told anything up to about a year but in the end it was less than that-I'd say maybe around 6 months.
In our area the main clinic is in a different city but the geneticist comes to our local hospital ever few months. I was called to arrange an appointment but wasn't in and by the time I got home all the slots had gone so I had to wait until the next lot of appointments.

 

[Feathers]

We were told appointments can take up to a year but it took 4 months to see her for the first time. That was in January and we're still waiting for a follow up with any results although our Paed says she has some now and it will be soon. It's a slow process that can take years to give answers we were told.

 

[Linny]

Thank you all.

Do you know if you see them regularly after that or what it is they do at these appointments?? As my DD2 had bloods taken at a day old, we actually got the results at a neonatal follow up at 5 weeks old. We are just waiting on 'genetic counciling' so with little idea what that is, and still waiting to see the community paed, I'm assuming this means they will test us to see if we're carriers maybe??

 

[bananabump]

My son was referred at 6 weeks old and we had our first appointment when he was 7 months old so it definitely took a while! X

 

[Linny]

Thank you. I was just told at a different appt that in my trust I have to be seen within 18 weeks of referral or they get fined?? We shall see x

 

[Tor]

It took around 8/9 months for DS1 they took his blood and mine and his dads, they photographed all individual body parts hands/face from different angles/legs/feet/chest etc.

 

[Linny]

It took around 8/9 months for DS1 they took his blood and mine and his dads, they photographed all individual body parts hands/face from different angles/legs/feet/chest etc.

I wonder why they take pictures of body parts? Do they journal them maybe?

 

[Feathers]

certain syndromes have features on those body parts. our Geneticist told us she shows the photos at the meetings of them all to discuss cases.

 

[sequeena]

Yeah I was told they'd take photos (his paediatrician has already said he has dysmorphic features). It can be quite fiddly to do, Thomas has had loads taken of his ear and hand as he has congenital deformities. Be prepared for lots of distraction techniques

 

[Mintastic]

Sorry - I know it isn't really helpful since I am not in the UK but it took me over a year to get my first geneticist appointment in the US.

 

[Linny]

My DD has certain features that indicate a syndrome so I think that's why they tested her. Aw makes me sad they will be photographing all her 'abnormal' features!

 

[Vampire Mom]

US but it was 13 months before we had an appointment. Granted, EDS had been confirmed by Dr F in Baltimore (please don't make me spell her name) and her variants isn't found on a gene yet since it's straight hypermobility with minor skin laxity but no vascular involvement.

The geneticist just did blood work and muscle biopsies on Hannelore, and lots of photographs. He wants repeat photographs every 6 months, but our normal doctor or Dr F can take those. Confirmed she had NS versus Turner, no other confirmation for other issues that can yet be seen. He admits we don't know what we'll see. The NS has normal intelligence but gross motor delays and physical issues. The EDS makes her joints hyperflexible so even if she wants to stand, her joints don't let her outside her braces. Add in the seizure disorder and she is worried about falling, so she doesn't want to stand. Her arms and torso are strong because she's been pulling herself around so the muscles themselves are what keep her joints in place.

 

[Jencocoa]

I am in the US, so cannot help there, though we have seen a geneticists. Just wanted to offer support!

 

[RachA]

Our appointment came through quite quickly.
I think we were asked to have blood tests sometime March/April time. We then got the results in the May and we asked if we wanted to be referred. We said yes and had an appointment come through in the June and a second in Aug (the first we didn't realise we needed to take Esther with us as we'd just been told they lady wanted to chat to us about the results and what they meant). Initially we'd been told it could take up to a year to see them. Basically it's because they only do the clinic every few months at our hospital. They phone up a number if people on the waiting list and offer them an appointment. If you are not ind if the people called and everyone who has been called says yes you stay on the list until the next clinic. We were fortunate because a lot of people couldn't make the clinic on the specified day.