[alwayslookingforanswers]

 I have 4 children the youngest 18 months she has lagged behind in most if not all milestones,she has generalized hypotonia,hypermobility she isnt yet walking but has just learnt to stand alone. 

although she does stand on the side of her feet and claw with her toes with a very ide based gait.

she has had eeg,mri and full blood count mri was normal except showed a probable artifact so may need tobe done again EEg showed frontal sharp waves.  and 3 blood results came back raised including ck.

Drs havent let on as to hats wrong hich is so hard,i am scared that we will never have a diagnosis..

she gets very tierd and crys like she is in pain at times and akes frequently through the night just wish there as something i could do for her.

well thanks for reading and look forward to hearing from anyone in similer postion.

[johnvb]

Hi

Welcome to the forum - hopefully we can help you feel a little less on your own. We have 2 children, one adopted, both of whom have a range of "difficulties" like your little one, and until a couple of months back we had absolutely no idea what was the cause of the problem. It wasn't that the doctors didn't want to tell us - they just didn't have any idea either! They went through blood tests, gene tests, EEGs, MRI scans etc but to no avail, other than to find that our son's kidney was full of kidney stones! This in turn let to a diagnosis of a condition called Cystinuria, but because this is not normally associated with learning difficulties etc we still didn't know what else was going on.

People kept telling us that having a diagnosis doesn't make any difference, but we didn't believe it. For a start when people ask about your child, if you have a "word" you can use then they don't come away thinking "he's just a bit slow" or "she's just naughty" which some people do. And it would make filling in those @!*@! disability living allowance forms a lot easier!

Anyway, the kids both recently saw a geneticist who arranged for a microarray test. It took quite a few months to get a result, but we now know our daughter has a very rare condition caused by a deletion of a small part of DNA. We also know that our son has an extra copy of some of his DNA, although it is less clear whether this is the entire explanation for his condition. But the point is, microarray testing wasn't available when we started our search, so just in a few years medical science has changed significantly in how it has managed to diagnose our children.

I don't know if you have seen a genetecist or not but it might be worth asking to be referred and to ask about a microarray test if they think the condition might be genetic.

Good luck and please let us know how you get on.

John

[alwayslookingforanswers]

Hi John,

Thats incouraging must be such a relief to have a dx for your children.
and

And it is so true that it hard to have people thinking that oh shes just slow,its just hard that drs havent even givern any idea as to what could be wrong,think they may have an idea trying to rule out epilepsy and a couple of incidents i have told them of have been described as less suggestive if she does have epilepsy? suggestive of what? we have been refered to neuro at gosh for an opinion. I am just driving myself crazy wondering all the things it could be. I just cant help it though.. guess there is nothing i can do till we go back to see paed in january feels like such a long way off.                                                                                                                                                                                                                       

[johnvb]

Hi again,

Unfortunately it can take quite a while to get through the system and see the right people, let alone actually get a diagnosis. In the meantime bear in mind that there are literally millions of conditions out there, and probably thousands that have some similar symptoms to your little girl's. We made this mistake a few times - to hear about a condition, look it up on the internet and think "gosh, that sound's like Michael", then read the list of symptoms and start panicking about all the problems he might have in the future. Of course we now know it is none of these but we didn't have the benefits of hindsight at the time.
Sometimes when the consultant says a symptom is "suggestive" they might mean it is the sort of symptom which could help to find a diagnosis, even if they have no idea what of. Our genetecist did a similar thing - identifying all the "interesting" things about our children which he believed to be part of a genetic condition, even though he had no idea what it was.

Best Wishes

John

[Speeds]

Hello and welcome.

I hope that you find out as soon as possible and also can learn how to help your daughter alleviate any poorly feelings she is having.

I think Doctors do try - it is like a double edged sword though.  We were "lucky" that our son was diagnosed pretty quickly after birth  - half of me wanted everythbing ot come back negative and the other half needed to get a diagnosis if there was one.

Stay on here and if it helps - do come and release.  It is frustrating and time consuming and with you having other children I bet it is incredibly hard to juggle everything too.

[alwayslookingforanswers]

Thanks guys,


Speeds i totally understand, whilst i dont want there to be something with my daughter I feel in my heart there is. but i am also scared that they wont find anything..and may never get a diagnosis.