Undiagnosed Children's Day 25th Apr. Please read this article.

[hazeyjane]

Link here

Undiagnosed Children's Day is on the 25th April, if anyone is going through the painful, worrying process of trying to find a cause for your child's issues, then please have a look at SWAN UK (Syndromes Without A Name) undiagnosed.org.uk/here.

It is thought that around 50% of children with learning disabilities don't have a diagnosis. It can be a confusing place to be, more difficult to access support and frightening when there are so many unknowns.

My ds is nearly 4, he has no speech, learning disabilities, gross and fine motor delays, a heart murmur, problems with his lungs, reflux and has seizures. He has had scans and blood tests some of these to rule out life limiting degnerative conditions. At present it is thought he has a genetic condition called Kleefstra Syndrome, but he has no confirmed diagnosis. SWAN has been a great support to us through some very difficult times.

Thankyou.

Sorry link for Swan Uk should be here

I have read the article swan uk are a great organisation . I can't imagine how hard it is to be without a diagnosis

I hadn't heard of them until now. Shared on FB and read.

Thankyou for reading the article.

I have asked MNHQ to sticky this at the top of sn children, until the weekend. I think raising awareness of this is important to people who are new to the board, and at the start of the road of realising that their child has problems.

Thanks for sharing the article hazey. I read some of the blogs as well. I think it would be helpful to new visitors to the board.

I just read this for a friend. It Is thought that the ADHD for example, the diagnosis she is fighting for, is through a genetic drd4 gene. Does that means he could have a swan? :)

That is interesting zzzzz, because personally I believe that most of the difficulties our children face will eventually be found to have genetic cause or we will be able to find the neurological cause (which could also have a genetic root).

The condition that it is thought ds has - Kleefstra syndrome, is a very new condition, the genetic connections were only discovered in 2010 (hence ds having it as an onconfirmed diagnosis - as they are still researching novel candidate genes involved). Up until this time the people (children and adults) who now have this diagnosis would have been swans - they would have learning disabilities, lack of speech, dysmorphic features, autistic features, mental health issues at puberty....all these things are like mini diagnoses in themselves, and it would have been felt that there is almost certainly a genetic cause, but no unifying diagnosis where a chromosomal abnormality is pinpointed.

In the same way children pre 1866 would have been thought to have learning difficulties, heart conditions, dysmorphic features etc, and then John Langdon Down, noted the similarities and identified an extra chromosome and Downs Syndrome was discovered.

I find it fascinating to think of science to catching up with our children.

It obviously shouldn't matter what the diagnosis is, if the needs are there then those needs should bring the support, but practically and realistically it does seem to matter. On a very practical level, the hole in ds's heart wouldn't have been discovered if Kleefstra Syndrome hadn't been considered. And from a support point of view, the attitude, even with a 'likely diagnosis' is proving to be far less dismissive.

We have never received a cause/diagnosis for our daughter, who is 15 this year. We have every test going but all have been ear. She gas DNA stored at guys and adenbrookes to test for anything else relevant
She has
Sld, Asd, Epilepsy, severe scoliosis
Then a long list of other minor- moderate complaints and behavioural issues.

It does get easier with time not knowing the. I never think about it and it sld/pmld schools it's very common to not know, I have found

We were specifically told by our geneticist that although she was complex she also presented as non syndromic too!
No man's land :)

Hi, thank you so much for the link this has been very useful. My ds2 is 6 weeks old with a lot of medical problems (microcephaly, brain damage, respiratory problems, heart, eyes, hearing, liver and spleen.) we are currently going through the process of trying to get a diagnosis through the genetics team. But the waiting and not knowing is very difficult. Thank you so much again for the link. X

Bumping this for today - hopefully MNHQ are going to sticky it at the top of the board.

The day is called It's A Mystery and in honour, ds has dressed as Shaggy from Scooby Doo ( his favourite detective!)

If you have a disabled child who hasn't got a diagnosis, is undergoing testing, needs he in accessing support, or just need hand holds along the way - please check out SWAN UK here they have a very active FB page and have loads of info.

Also, please post here, there are so many wonderful friendly and wise people on this board who have provided me with more support than I could ever imagine. Ds and I would be lost without this place.

im a swan mummy too fab video x

Hello Sprouts

Just a link to a wonderful blog post from a fellow mumsnetter and Swan mum here

Zzz it was explained at a talk I attended that dxs can be 'bottom up' - where the cause is known (birth injury, chromosome deletion, Downs Syndrome) or top down- where the signs and symptons define the Dx (ADHD, ASD, LD, VI). Ds has lots of these second type of Dxs but no known cause. Genetic and other biomedical research means some Dxs have moved from the second type to the first type of dx such as Downs syndrome - where the diagnosis was originally a collection of signs to now having a scientific test to diagnose. Some dx can need both - the cause and the effects to be defined. I did not put that as elegantly as the lecturer!

Hi I think Rett syndrome is another example Andreas rett observed some girls with clinically similar symptons and in 1999 the specific gene mutation which causes Rhett's was found