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Need Diagnosis arrrgggghhhh...will it Help him... Probably not but me YES!!!!

(9 Posts)
Babblefish Sun 23-Oct-11 08:00:24

Have 3 kids DS1, DS2 and DD. DS2 is major pain in the bum!!!! He has had problems from birth. Unable to feed...failure to thrive...found heart murmur...severe reflux. Then as time went on things got worse...GDD.. Fixed Contractures in fingers....shortenend tendons in legs..floppy in trunk....fits with high fevers but not normal febrile convulsions..sits on sacrum and at 27mths still unable to walk. So far told both him and me has Ehlers Danlos type 3 which exlains a lot of his floppyness.
We have loads of treatments and therapists...OT, Physio, Portage, AFO's for legs, Lycra Gloves for fingers, Lycra Bodysuit for trunck and posture problems. Special chair for posture, standing frame. Seeing Geneticist who is doing in depth microarray which has been sent to Holland as the one we do in this country found nothing. He thinks have got good chance of finding something as DS2 does have key genetic features.

Just waiting and waiting and waiting....Did it help anyone getting a diagnosis? I have put so much emphasis on it now!!!

Tough week this week as we meet with wheelchair Services!!! Great!

Ah forgot to say DS1 is just 4 and DD is 6 months....so if one more person tells me i have my hands full....arrrggghhh!!!

lisad123 Sun 23-Oct-11 09:35:14

yes dx does help in some ways, so know your not crazy, cant explain it quicker to other proffessionals and family.
Its so hold to have to wait, but it seems like he is getting all the help he needs, which is the important thing.

To be honest with that much going on... a dx isn't going to make any difference to the services you need/get etc. I know that's not what you want to hear!

Thing is.. diagnosis helps you, because it explains the WHY and gives you something that emotionally you need.. a reason for the crap hand your DS has been dealt , but it makes not a jot of difference to the professionals on a daily basis because they have to treat your DS as he presents, not as a label. (eg if it were CP he could have been anywhere between profoundly incapacitated and mildly affected so you would never have a blanket approach) Also if he has something chromosomal and particularly rare.. then often there are no guidelines of what to expect so a diagnostic label is met with a puzzled look..

I work in a SS (as well as being a parent) and the majority of our children with very complex needs and abilities actually have no diagnosis. There are a few with known syndromes, Angelmans, Retts, Cohen's but the majority do not. It is harder for the parents but it makes no difference to the help that the children need and getsmile

Who are you seeing for genetics? The Oxford team are VERY good . Also , just a thought but having finger contractures flags up another thought for me.. the neuromuscular team should also be looking at your son..

Professor Muntoni and Manzur are the Uk's (and world) specialist neuromuscular guys..now based at GOSH I believe...and some of the nicest doctors EVER. If you haven't chased a neuromuscular referral do so (via your paed, or even the genetics team) because being floppy AND having contractures would definitely bring their attention and they are VERY thorough!

Sorry that turned into an essay blush
you have your hands full (ducks and runs.... grin

FanjoForTheMuahahammaries Sun 23-Oct-11 09:44:38

Genetic DX didn't really help us, but DD's issues are.more related to her ASD than her microdeletion, however if your DD has lots of issues it would be good to have a reason for those

Be warned though, I find noone knows what I am talking about when I tell them DD's dx

FanjoForTheMuahahammaries Sun 23-Oct-11 09:46:07

If your DS has issues, I mean, my phone changed it.

FanjoForTheMuahahammaries Sun 23-Oct-11 09:47:26

Yy to the 'puzzled look'..noone is recorded with my DD's deletion so they had no answers for us

Babblefish Mon 24-Oct-11 15:34:48

Medusa...yeah THANKS xxxx lmao

Not even been spoken to about Nuromuscular but is worth an ask!!

Consultant has called today and said DS does not have Carbohydrate Deficcient Glyco-protein thingy but is aenemic.

In WHATEVER mood today!!!

The other one is 'Have you not got a telly in your house!!'

hazeyjane Mon 24-Oct-11 15:49:50

Babblefish, I get a lot of the, 'blimey you must have your hands full' and have had the telly comment too! We have dd1 (5 1/2, dd2 4 1/4 and ds 15 months) Ds has GDD, gross hypotonia, problems with swallowing and silent reflux. We are waiting for an MRI, and ECG an EEG and a videofluroscopy. We had some initial genetic tests done to rule out Spinal Muscular Atrophy (which came back clear).

I feel as though we are hanging onto getting a diagnosis, but I am also aware that we may never get one, it is hard to explain to people why this is such a hard thing to deal with.

I find I have to compartmentalise my brain into the medical side - waiting for scans, panicking about medical issues as they arise - ds recently had a cold which led to a series of bad choking episodes at night, paed appointments - these bits are the horrible bits.

Then there is the therapy side - swimming, singing, sn nursery, physio etc - these are the constructive positive things that make me feel as though I am helping ds and enjoying him - these are the good bits.

We have been referred to a neuro muscular specialist at John Radcliffe hospital, seing him at the end of November, I am already feeling panicky and overwhelmed!

glimmer Tue 25-Oct-11 08:38:00

We got a dx right away and didn't even have to chase it, which I know is unusual.
To be honest, I have been suffering from the labelling a lot, because once you veer into the rare disorders, you have to look at the specific needs, not the general dx as Medusa sais. Now, I do admit it helps getting help and explain to others but it also limits what they see. Just my opinion.
Good luck.
:-) At the "hand's full". Odd, how it is often used almost as an accusation.
Have 4 and 2 year old and am 8 months pregnant :-)

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