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Original poster

Genetics Appointment

27 replies

Bumblelion · 22/09/2004 14:24

Have got my first genetics appointment tomorrow and was wondering whether anyone else had been referred to genetics.

Basic background - youngest DD (nearly 3), youngest of 3 children, has global developmental delay but so far no cause has been found for this delay.

Has had portage in the past - but that now seems to have taken a back-step as she is now having Integrated Pathways, sees physiotherapist, been referred to Occupational Therapist - still waiting appointment, not sure what this involves, had MRI scan, CAT scan, spine e-rays, been through Great Ormond Street - EVERYTHING COMES BACK NORMAL SO FAR.

Next step is Genetics. Both me and ex-husband (father of all children) have got to go tomorrow. The reason they are referring my DD is because (1) she is very big for her age (wears age 4 clothes, size 10 shoe), but me and ex-H are not on the large size - him 5 ft. 7 and me 5 ft. 4 (2) she has two teeth fused in the front (3) she is loose-limbed (double jointed), (4) walks on the outside of her feet (5) has large thumbs(?) and (5) has global developmental delay.

If anyone has had a genetics appointment, what do they look for. Do they start off with blood tests.

Sasha has had chromosone tests which all came back positive.

OP posts:
heartinthecountry · 22/09/2004 15:28

dh and I had a meeting with a genetic counsellor. Though by the time we saw her it was more or less obvious what condition dd had.

She basically just asked us lots of questions about our backgrounds - family trees etc. I'm sure they do go into a lot more detail than this eventually.

Fio2 and Caroline5 are prob good people to give advice here as both have dd's with undiagnosed development delays. Keep bumping this up.

fio2 · 22/09/2004 15:36

Hello Bumblelion Smile

We are going through the same aswell with our dd

she has undiagnosed global delay (mod/sev)
microcephaly
hypermobility
long sighted & squint
and valgus feet

First appointment was : we saw the nurse, she came to the house and mapped a family tree, asked about the pregnancy, birth, how dd had developed, when did I start having worries
asks about family history of delays/illnesses etc
and also explains what will happen at the appointment

Then when you see the genetic dr (where are you going btw?) they look at your child, ask loads more questions, measure them and you!, take photos of the child and yourself and usually tell you there and then if they think they know what it is (thats the scarey part!) basically they look for any genetic markers of syndromes, any behaviours that match a certain syndrome etc

We have only had one appointment and we have another at Guys at the begining of October. they are testing my dd for one metabolic syndrome but they feel it very unlikely she will have it

HTH

fio2 · 22/09/2004 15:37

also if you have any idea what you think it may be, mention it. They will either say yes or no or investigate further

Do you think you have any idea? Have any syndromes matched her symptons/behaviours?

bundle · 22/09/2004 15:39

fio are you seeing genetics people at guy's? i've met the primary care geneticist there, who's lovely.

fio2 · 22/09/2004 16:15

really bundle, i am Cat-ing you arent I, so i will tell you who!Grin

Original poster
Bumblelion · 22/09/2004 16:22

Have been under Great Ormond Street in the past - saw the cranio-facial consultant but that was when they thought DD3 had synostosis. That has been ruled out.

I don't have any idea of why she is so globally developmental delayed. She slept for 20 hours or so a day for the first 9 months of her life, so grew a lot physically but didn't develop mentally.

She is slowly catching up but is still behind a typical 3 year old. I know all children are different and develop at different speeds, but my lovely DD3 has not surpassed herself at any of the "normal" skills - was late walking, late talker, etc.

In one way, whatever the diagnosis, it won't change who DD is and what she could be, but I would like it if I could have a diagnosis. From what I am saying, you may not believe me, but I don't believe in "labelling" children for labelling sake, but if there is a something genetically wrong then obviously I am keen to find out.

It will be strange visiting the hospital tomorrow with ex-H (we are separated and living apart). He has never attended any of her various appointments (not even the GOSH one nearly 2 years ago when they thought she could have synostosis) but this appointment they have asked specifically for both parents to attend. Will be a bit strange but just hope he doesn't find some excuse why he can't attend.

The only thing I think she could have/be is dyspraxia because (1) my brother's son was verbal dyspraxic and (2) my ex-h's nephew had balance/co-ordination dyspraxia.

Am rushing off from work now (have to leave work 1 hour early to collect youngest DD from nursery as I have no-one else to collect her).

Will post more tomorrow (if anyone is interested) after I get in to work after having my genetics appointment.

OP posts:
tamum · 22/09/2004 16:25

Hi, I just popped in because of the word genetics and because MI told me to , but just wanted to wish you luck with your appointment. You've had lots of good advice already, don't think I can add much really, but I'll be interested to hear how it goes. Good luck!

bundle · 22/09/2004 16:30

do post, bumblelion, i'm sure we'd all like to know

fio2 · 22/09/2004 16:30

gawd she sounds like my friends ds. he is delayed and he sleeps ALOT. She thinks it is dyspraxia too.

Dont want to worry you but have they tested her urine for sugar? It always make me think diabetes if they are overly large and sleep alot (says dr fio who is no-where even near being as nurse/dr or whatever!)

I know what you mean about having a diagnosis. I would love for someone to put a diagnosis to dd, but as you say it is only helpful if it is the right diagnosis and useful. Which a genetics diagnosis is always helpful for the future

fio2 · 22/09/2004 16:31

oh yes second bundle, i always like to hear how your dd is getting on Smile

fairydust · 22/09/2004 16:48

we're also going through it all as well.

We've had our first appointment with the genetic nurses and are waitng to see the doctor -had an appointment for the 9th September but they cancelled.

So we'll just have to wait n see

Caroline5 · 22/09/2004 23:09

We saw a genetics consultant too in Cheltenham. Our dd2 has global developmental delay and microcephaly, and has some unpigmented patches on her tummy which they think are relevant. He did the family tree and measured our heads (!), asked lots of developmental questions and came up with a couple of possible syndromes, which came back negative. They are currently stumped and will see us again in a year or two - he said that sometimes things become clearer with time, but my feeling is that our gorgeous dd will remain a mystery to them! Good luck with your appointment Bumblelion

Original poster
Bumblelion · 23/09/2004 14:31

Got a possible diagnosis - Sotoes Syndrome (sp?) - a genetic disorder.

Am going to look it up now on google and will post more shortly, i.e. how our appointment went, etc.

OP posts:
bluebear · 23/09/2004 14:37

Spelling is Soto's syndrome (should help your googling)

Original poster
Bumblelion · 23/09/2004 14:37

Got it - Sotos Syndrome - reading up on this website - this is my first every link so lets see if it works

\link{http://www.well.com/user/sssa/whatisit.htm}

and everything they mention is my daughter. Gives me a bit of comfort having a "label" for my daughter (not that I need a label) but everything points to her having this syndrome.

Wow! I feel liberated at last after having been through various diagnosis routes.

Finally feel, after nearly 2 years of investigation, we are finally getting somewhere.

OP posts:
bluebear · 23/09/2004 14:39

Haven't got time to read whole thread but if they suspect Soto's and you were seen at GOSH they have probably taken a blood sample to have it tested.
(I work on the testing side)
Hope your appointment went well.

Original poster
Bumblelion · 23/09/2004 14:39

Try that bloody link again

Have a look at \link{http://www.well.com/user/sssa/whatisit.htm}

Why won't it work?

OP posts:
Original poster
Bumblelion · 23/09/2004 14:39

I give up on that link.

It wasn't GOSH that diagnosed us, it was my local hospital but I feel so liberated, just being able to google Sotos Syndrome and all of it points to Sasha.

OP posts:
fio2 · 23/09/2004 14:45

Bumblelion that is fantastic

what a great diagnosis to have! Smile

bluebear · 23/09/2004 14:48

Sorry about errant apostrophes I am typing fast..

I glanced at the link you had..it appeared to say that Sotos could not be tested for but some cases have recently been linked to a tiny part of one of the chromosomes missing (so small that you cannot see it by conventional chromosome testing). If Sotos is suspected then specific tests can be done to look at that part of chromosome 5 in detail and see if the segment is there or not.
I've been looking for a good reference paper to link for this but haven't found one yet.

bluebear · 23/09/2004 14:50

Oh, I keep cross-posting! Sorry. If you need any info on testing then CAT me...I'm not at work today so don't have any references on me though.
SO glad you've got a good diagnosis though

bundle · 23/09/2004 14:55

great bumblelion, hope your ex- was supportive!

lou33 · 23/09/2004 15:03

They thought dd1 had sotos at one point, but she had valproate syndrome instead. Ikwym about having a name for things.

Original poster
Bumblelion · 23/09/2004 15:19

What is Valproate Syndrome if you don't mind me asking.

Glad to say ex was supportive, for once. I think he got a bit stressed out when they had to undress S and try and measure her head, weight, height - she hates it. I always give her the option of complying but in the end sometimes just have to make her - doesn't sound nice but, for example, when she was having a general anaesthetic they had to know how much she weighed so they could give her the right amount of anaesthetic.

This is the very first hospital appointment he has attended and I think it was good for him to see what I have to go through every time I have an appointment.

One thing made me laugh - they said if we were to have any more children it is unlikely another one would be affected. I said there is not much chance of that, and the doctors (there were 3 of them) looked at J with a raised eyebrow as though to say "had a vasectomy then, have you?". I said that there would be no chance as we were no longer together. They then said that if either me or J had children with another partner (not going to happen for me and I sincerely hope not for him - I hope our 3 are more than enough for him) then it is unlikely they would be affected either.

They have taken blood from both me and J (and still have blood taken from S when she was referred for chromosones and dna) and should get the afirmative result before Christmas but after looking at various web sites it is just like reading about my darling beautiful S.

OP posts:
bundle · 23/09/2004 15:21

that look from the docs made me smile...you're right it's good for him to go through it. good for you