The problems with being undiagnosed

[misdee]

My baby girl has a currently undiagnosed condition. It's been a year since this journey started with her. I have been fobbed off, been told to just wait and see. Can't access services as undiagnosed. Have had conflicting reports from various doctors.
I'm frustrated beyond belief.
Those with rare conditions or still undiagnosed please come and talk to me.

I have a thread of what's been happening so far, but it's rather long. www.mumsnet.com/Talk/special_needs/2557741-Dont-even-know-if-I-should-be-posting-here

I hear you. When my dd was 1-2 she was delayed in all areas and up all night, I was literally cracking up. We needed help but constantly got fobbed off.

Then at 3 she bloomed it a way I couldn't dream of... and got diagnosed with asd. Just before three she was discharged from everywhere, now she can access all sorts when we have less need. Shy or naughty became CAMHS help.

All I can advise is research the service you want, e.g. Portage and get hold of the referral criteria. Self refer if you can or get a GP or HV to do it with you. Many criteria are online or you can request them from a CDC. If she's in nursery push them for honest reports, I had a blunt chat where I asked for. Straight report without the fluffy bits. Suddenly it was very different once they knew I was neither in denial or going to get upset at them. "Can walk on a beam" became "can balance on two beams pushed together holding staff hands. Xxxx does this when others are not at the activity"...

Thank you.

My girl is 20 months old. She is verbally delayed. Didn't babble. She has a muscle weakness and abnormalities in her temporal lobes.

After almost a year of local doctors saying no concerns, gosh picked up the issues in her brain. I walked into that appointment expecting to be told yet again, no concerns. I left there with more questions than answers and feeling very upset. We have an appointment in two weeks time for genetics, metabolic tests, eeg and EMG. Been told she is unusual and not something they see often. But no idea what we are looking at really.

If it's any consolation, many of the children at my DD's school have SWAN (Syndromes Without A Name). DD1 is 11 now and we still don't have a name for her genetic syndrome. All we know is that her brain MRI is abnormal, she used to have epilepsy, and that it led to global developmental delay which is now moderate learning difficulty. Unfortunately, her lack of awareness of danger and her impulsivity will be her most disabling features in terms of long term independence.

I have the forms for swan UK, haven't filled them in as hoping for more answers next month

Hello Misdee, I have posted on your other thread in the past.

Ds is 6 and a half and still has no diagnosis, the agonising testing, and inconclusive results has become less agonising over time.....but I still get a flutter in my chest when I get an unexpected medical looking letter, thinking it could be results from one of the studies he is involved in. (this has literally just happened. - heart thumping, shaky hand....it was a physio report!)

It can be a struggle, but you can definitely access support without a diagnosis - ds gets DLA, has a raft of therapists and attends a sn unit in a mainstream school (with a full EHCP). He has additional needs,, and complex health issues - just because there is no hook to hang these on, doesn't meant they aren't there.

When you see the geneticist ask about participating 100,000 genome study - which would give your dd access to the latest genetic testing

Be warned though, even with extensive genetic testing (micro array, FISH etc), everything may still come back 'normal'. This has been the case for ds, but his geneticist still thinks there is a genetic condition behind his problems, it may just not have been discovered yet!

If you don't want to fill out the forms, have a look at SWANs Facebook page, their forum is very active.

Thanks Hazeyjane, that's reassuring that you have managed to access support. Most of the last year, aside from SALT, I have frequently been told wait and see. It's only recently that we leant her MRI in February was not clear. If I had that information back then, I feel we could be a lot further on that we are now.