Had MRI Scan, Pitutiary Gland check, now endocrines and genetics referral

[Bumblelion]

My DD2 (third child, but second daughter - never knwo if she is DD2 or DD3!) has global developmental delay. Been for lots of referrals/appointments - synotosis at GOSH (hasn't got it), MRI scan (March) - results normal, pitituary gland check (she is on the large side - very tall, with size 10 shoe - her brother (on the small side) who is 7 only has a size 12 shoe) - normal, dna blood test - normal, chromosone blood test - normal.

They are now referring her to genetics (as she is loose limbed - double jointed - in all her joints, very, very flexible, has deep bedded fingernails (whatever that means) and fused teeth.

They are also referring her for a endocrine (hormonal) check as she is so big - my other two were normal/on the small side.

Has anyone's child been referred to genetics or for an endocrine test and what do they do?

we are having gentic counselling atm bumblelion. They basically look for 'syndromes' that may be causing your child to be delayed. We have been down the same route as you with all the tests and are now at the genetic route (if that makes sense) They just want to find a cause so that we as parents know what we are dealing with and what the future holds, also whether it would affect subsequent children.

We firstly saw the genetic nurse who mapped a family tree and asked about any illness's or learning disabilities in the family. The ask whether the pregnancy was normal and the birth and have a chat about how your daughter developed and when did she start having problems. The nurse explains to you the procedures of when the genetic doctor sees you and what might happen. For example the genetic dr might 'know' the diagnosis for your child just by looking at her.

Secong appointment was at the hospital with the genetic dr. She observed our daughter for a good hour and asked loads of questions. measured her and measured us. She then took some photos of her and asked us to forward on photos of other family members at her age. We have only had this appointment to date so this is all I know atm. She did write to us saying she couldnt see any evidence of a syndrome and was looking into whther the birth could be a factor.

It is quite stressful I found and was very worried about the appointment beforehand. The dr was lovely though and really put us at ease.

HTH if you have any more questions I will try and answer them tamum is the expert though !

Thanks for that Fio2. Just wondered what genetics involved - in one way it will be nice to get a diagnosis but on the other hand a "label" doesn't change anything, apart from the fact that they might be able to help her in other ways apart from that help she is currently getting.

Seeing an educational psychologist tomorrow morning which should be interesting.

how old is she now bumblelion? I agree that diagnosis won't change things, but often people say that's when things started to make sense. how are you by the way?

Thanks for asking Bundle. DD is now 2 years and 9 months (3 at the end of October). She goes to nursery (because I work) 2 days a week but is coming on so well that my local borough council pay towards her nursery fees as they can see it is so beneficial for her development. On Monday have got a daycare review meeting with the nursery, the daycare advisor, the portage worker and my SALT.

I am fine, thanks for asking.

gosh, that's flown by. do update on the ed psych, I'm sure it'll be interesting

We've also seen the geneticist a couple of times with our dd2. It was very similar to how fio describes. He did pick out a couple of syndromes which he thought might be relevant and dd's DNA was sent off for testing. Results can take quite a while to come back.

Hello caroline Have they still not got the results back yet?

Hi fio! Not sure, but we haven't heard anything, so assume that's good news! We've got a review meeting in a couple of weeks, so hopefully we may find out then. Not holding my breath though! How are you?

ummmmm sort of fine! I hope its good news too I think it will be because if it was bad they would have contacted you quite quickly I would have thought