geneticist and dd.

[hashtagwhatever]

Hi
I would be most grateful if anyone could help with what a geneticist will do for dd.

She is now six and has a diagnosis of adhd, sensory issues, hypotonia and hypermobility. She is also on the 99.9 percentile for height and scores low over all with her cognitive functioning.

She sees camhs, neuro disability, physio and ot plus ed physc. The neuro dr have taken bloods and referred her to genetics and kept some dna stored?.

They seemed to be most interested in dds height and the fact she has some brown patching on her skin. Whilst I know I can't be given a diagnosis via mumsnet I was hoping of someone having had been in a similar position giving me a headsup on what will happen next.

Dd was extra hyper at the appointment and I struggled to listen to the dr properly whilst trying to stop her bouncing around.


She also did have a mri and eeg as a baby mri showed a shadow which didn't seem of any worry and the eeg showed abnormal activity. They aren't in a hurry to repeat these as the dr thinks dds height will mean she will need alot of anesthesia to get her asleep for the mri.

I'm rambling I know. I just wish I knew what we are looking at and feel this could have been done much earlier.

Thanks for any replies in advance.

[2boysnamedR]

Hi - I have four kids. One has dyspraxia and some other stuff. Toddler is also a complex little thing. He had genetics where a duplication was found.

However this has raised more questions than answers. He inherited it from his nt dad. If anything genetics is found then even children with same thing can present very differently.

Not sure how about knowing about this genetics now. Hopefully it will mean more in the future.

[hashtagwhatever]

Thanks 2boys. I also have four dc, dd is the only presenting with special needs. She is the youngest.

How do they know which genes to look at would they already have an idea as to what they 'think' is a faulty gene

[choc0clock]

They will look at all genes. Geneticist explained it to us in detail how but it is difficult to explain in simple terms without a pen and some illustrations. Have a Google for microarray analysis.

we found out that Dd has a chromosome disorder which caused her asd. Other than that nothing happened via genetics (there is no cure or medication in our case).

[hashtagwhatever]

Thank you choc. I had a look very clever stuff really.

The blood that dd had taken already is that what will be tested? Or another lot taken when we see genetic dr?. Does it take along while to have some results.

Sorry lots of questions.

[choc0clock]

No idea if they will want new blood.
Results take time (we waited 5 months) but it might take longer than that. Its not a quick test.

[hashtagwhatever]

Gosh that's long but what I presumed.

Hope this doesn't sound odd, I'm scared for them to find something but also scared they may not and we will be none of the wiser. Whilst having a name/reason for dd's problems doesn't change the fact she has them. I feel it will help with understanding for her siblings and maybe easier to figure out ways to help dd.

[choc0clock]

Whatever the result, it probably won't change anything really but you might find people with
the same chromosome disorder which you mght find useful.

they might test you and.your DP to see if you are a carrier (which might have implications for your family planning). But I found it really useful to find out.

[hashtagwhatever]

Yes I hope to speak with others with dc similar to dd.

I wish I knew what they were looking for presumably there's an idea by symptoms.

[2boysnamedR]

They will do a full array and look at every chromosome. If they find a duplication or deletion on a known gene ( like us) you will get some answers. If they find something that a lot of others have then you might get a syndrome name and a lot of answers. In our case they found a small duplication on a gene used in neuron development linked to speech and autisum ( in rats - we are unique in real terms). Possibly a handful of other people have a duplication on this gene but no one has the exact location and size etc. plus lots of others with this duplication also have other duplications or deletions.

But I guess the only good of knowing is that I now realise I couldn't have changed his outcome. It was nothing to do with my parenting

[hashtagwhatever]

Thanks 2boys

Sorry you have got only some answers

[loismustdieatyahoodotcom]

Hi we've just been through this, nothing found at the moment. At the first appointment the geneticist did an in depth physical exam and took photos, this was as well as looking at development milestones and already diagnosed problems (hypermobilty). They then said they would do a specific test for a syndrome based on his attributes and a full array test. We waited 8 months go the initial appointment then a month or so for bloods ( which they have stored in case they want to test again) then another 16 weeks so quite a slow process really. Hope it goes as you want!

[hashtagwhatever]

Thanks lois.

8 months wow it's a slow process.
Dd had some bloods taken and some wereto be stored but this was done by a neuro disability paediatrician. We are being referred to genetics. I wonder why they've referred us and taken their own bloods.

[loismustdieatyahoodotcom]

Sorry I think I wasn't clear we had the first appointment with genetics at one hospital then our local paeds clinic took the bloods and sent them to genetics at the other hospital. It's was a bit around the houses iyswim.

[hashtagwhatever]

Oh ok I understand . So the way the paed has done the bloods beforehand doesn't seem as odd now. Thank you lois

[loismustdieatyahoodotcom]

We've also decided to enter into a DDD study I don't know if they offered this to you

[hashtagwhatever]

Thank you both, what is ddd?

Would the test's they choose to do first depend on symptoms the child has?

Like dd does have some brown spots on her skin which if I understand correctly is a symptom of neurofibromatosis. Or say another test I.e Marfans because dd is tall and has hypermobility?

[hazeyjane]

The DDD study is Deciphering Developmental Delay, all information here ds is involved in this study, and another study based in Holland relating to a specific syndrome which the geneticist thinks he may have.

The initial tests are quite broad, and if they don't throw anything up, then they can look more closely at specific syndromes and mosaicisms (where only certain cells are affected). Many children and adults don't get a diagnosis for years. The world of genetic science is constantly making new discoveries, but the in many cases the science hasn't caught up yet.

There is a group called SWAN UK ( undiagnosed.org.uk ) which supports families whose children have undiagnosed genetic disorders.

[hashtagwhatever]

Thank you both. Makes more sense to me now. I will definitely have a look at the link too