Here some suggested organisations that offer expert advice on SN.

Does anyone's child have severe difficulties but no diagnosis?

(13 Posts)
kelda Wed 09-Mar-16 12:19:23

That's what I am finding very hard at the moment, no hard and fast diagnosis. They have described him as having severe developmental disorders in all areas, - speech, language, motor skills, behaviour, learning, social and emotional. Tics, stims, aggression, very poor social imagination, but does not fit the presentation of ASD or Tourette. IQ is normal but severe learning difficulties.

They have said to consider him to be around 4 years old in behaviour, he is 7.

Motor skills and social skills have slowly regressed over the last year.

A ton of tests done, genetic, metabolic, MRI, CT, lumber punctures - nothing seen. Apart from a chromosomal difference, which may or may not be relevant, and they are investigating this further.

He does have epilepsy, which began in dramatic fashion with a long fit (hour+) and a stay in ITU.

I am finding it hard to cope with no diagnosis, and specifically, no prognosis. The regression concerns me.

Anyone in a similar position?

zzzzz Wed 09-Mar-16 12:40:08

ds had no dx till the end of last year (he is 11 now). I have to say that reading your OP I'm not sure what you mean by "no dx". Your son most definitely has a dx of Epilepsy, presumably tic disorder, social communication, developmental delay and learning disability??? Why don't these "count" as dx?

kelda Wed 09-Mar-16 15:14:31

They are currently being considered as symptoms of a bigger disorder.

zzzzz Wed 09-Mar-16 15:18:47

But they still stand in their own right.

kelda Wed 09-Mar-16 15:26:01

No actually they don't. They describe his symptoms, but his symptoms cannot be explained by the usual suspects DCD, autism etc. You don't expect to see regression (that means loss of skills) in skills very suddenly at the age of 7. A year ago he didn't have ADHD, ASD, DCD etc. So why does he have the symptoms of those now?

That's what the doctors cannot explain.

zzzzz Wed 09-Mar-16 16:04:16

Obviously I don't know but you do see loss of skills in epilepsy. Is he well controlled?

All school are just descriptors. They don't of themselves mean anything more than this patient displays this collection of symptoms (or doesn't)

zzzzz Wed 09-Mar-16 16:38:44

That should read obviously I don't know your child.

I do know that half of epileptics are idiopathic (like my dd3) and that I think it was lougle who said long ago that large numbers of kids in SS don't have a definitive dx (ie one in the manual) but have dx that are just a jumble of descriptors. It's frustrating because as parents what we are looking for really is prognosis.

kelda Wed 09-Mar-16 19:09:52

That's what we want, is a prognosis. Regression is a very worrying symptom and the neurologists cannot explain it due to the epilepsy.

zzzzz Wed 09-Mar-16 19:15:44

What meds is he on? Dd3 has regressed after major seizures and stalled on some meds. Ds1 (asd/language disorder) regresses before advancing but I'm guessing you mean something more profound. Does he still have seizures?

hazeyjane Wed 09-Mar-16 19:28:30

Have you seen the group SWAN UK? [http://undiagnosed.org.uk/]] for families who have a child with undiagnosed genetic conditions? It is thought that about 50% of children with learning difficulties do not have a diagnosis. The field of genetics is growing very quickly and so more and more conditions are being discovered, that give an over riding diagnosis when a child has unexplained difficulties (that seem to have a genetic cause - eg genetic markers, particular physical features, certain health conditions). Many of the children on SWAN are part of the DDD study (Deciphering Developmental Delay) or the 100,000 genome study - these studies are finding diagnoses because of the numbers of children involved and using the most current whole genome testing.

kelda Wed 09-Mar-16 19:59:39

Thank you hazeyjane, that's great. I'm not in the UK which is why I haven't come across it before

Mumoftwinsandanother Fri 18-Mar-16 19:38:57

Can't give you any practical help just wanted to send you some sympathy. I was also going to suggest SWAN. My son has developmental delay, has occasional regressions but doesn't really have ASD (traits though). He is currently undiagnosed and is referred to as a blended child (but the regressions are worrying). Ultimately if you can't find a diagnosis you just have to treat the symptoms you can (medication if appropriate for epilepsy, SLT, behavioural therapy, lots of modelled play for social imagination). I'm not sure much would change if you did have a dx (although it would be great to have a prognosis naturally). Best of luck with it all.

Tutak Sat 19-Mar-16 11:34:58

Hi •kelda• sympathies too from me, it is all very distressing and confusing - my son has 1 in 10 million genetic disorder, so at least I know its name and now have support group on Fbk. But I have noticed that even with his known single gene disorder, the outcome for those in the group (60+ members, all over the world) is incredibly varied - not everyone has the same problems/disabilities with it. So in my experience, even when you get a name for whatever it is affecting a child, it doesn't necessarily always give you an accurate prognosis. Certainly helps with what problems to look out for and which specialists to alert/monitor though. And agree with other posters that SWAN is a very useful organisation. Best of luck!

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