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SN children

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Original poster

Had letter from geneticist

17 replies

emkana · 12/05/2008 21:46

She's reviewed ds's file apparently, and has looked at his x-rays, and feels that there are a variety of conditions that they could test for...

but you know whereas in the past I was desperate for a diagnosis now I don't really want to go there.

Everything's going well atm, ds is doing great, I don't want them to suddenly throw some syndrome at me which might have scary implications!

Will have to do it in case there are implications for treatment...

OP posts:

Original poster

emkana · 12/05/2008 22:14

OP posts:

Arabica · 12/05/2008 22:28

Am glad to hear about DS doing well. And can relate to not wanting to know about any scary things they're testing for. DD has some results pending, for a very nasty life-limiting metabolic disorder. I have a horrible feeling it's been lost as I haven't heard from GOSH since we gave in sample, in February!

tortoiseSHELL · 12/05/2008 22:31

are you still coming down our way on Wednesday?

Original poster

emkana · 12/05/2008 22:33

Arabica, fingers crossed for you for good news!

tortoiseshell, I am, but haven't got a lot of time as it turns out now. Also have an appointment on the 6th of June, would you have time to meet up then instead?

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tortoiseSHELL · 12/05/2008 22:48

yes, june sounds good! Will prob be around then - there's a chance I might be away in the Lake District that day, but will know more later. hope Wednesday goes well for you, and good luck with the dippy receptionists!

yurt1 · 12/05/2008 23:11

Fingers crossed for you both.

That's crap Arabica. A friend had the same thing- tests at GOSH that took about 8 months for the results.

Arabica · 12/05/2008 23:49

I was warned it might take ages. Was also told she was unlikely to have the metabolic disorder as she has none of the usual symptoms, just some weird bits on her brain that children with this condition sometimes hve.

FioFio · 13/05/2008 13:29

This reply has been deleted

Message withdrawn

Arabica · 13/05/2008 15:14

That's true. You can never quite relax even when things are going well.

mm22bys · 13/05/2008 16:10

We're in the same boat. In the last month DS2 has had blood tests, and a lumbar puncture and muscle biopsy (and orchidopexy - he has been through so much). They told us it would take a while before we got the results.

WE got an email today saying they got the last of the blood test results back today, so the prof is going to ring this afternoon, and we heard that the results of the muscle biopsy will be in by the end of next week.

I wasn't thinking about it too much (it was a complicated procedure getting even the procedures / tests coordinated, and it's possible everything may still go stray), but now I'm getting nervous.

We have to see the geneticist next month, no doubt they'll want to run a whole new range too.

Good luck, thinking of you, it is a scary time,

Arabica · 13/05/2008 18:50

Let us know how you get on, mm. Whats an orchidopexy?

Original poster

emkana · 13/05/2008 21:00

Bl*dy hell the geneticist has brought the possibility of Jeune syndrome (scary type of dwarfism) back up again.

Had thought that was off the table since I had sent ds's x-rays to America.

OP posts:

TotalChaos · 13/05/2008 21:02

sorry you've got to deal with this again Emkana, really hope that the geneticist is mistaken.

Original poster

emkana · 13/05/2008 21:19

thanks TC

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olismum · 13/05/2008 21:23

hi ya,
i know what you mean about wanting to know but then not wanting to when the opportunity arises. after months and months of waiting and wondering we got a diagnosis last week of partial deletion of chromosome 13. the syndrome still doesnt have a name so still cant really research what that means but we are meeting the geneticist in a few weeks time to discuss it all. word of warning though, genetic testing takes months for a result.
hope things go ok for you all.

mm22bys · 14/05/2008 12:38

Hi Arabica,

An orchidopexy is done to fix undescended / retractile testes. It was the urologist who suggested that DS's problems may be due to a endocrine condition so he was referred to another endo (the local one has only seen him once) at GOSH, who has referred him to a geneticist.

How's your DD doing?

Arabica · 15/05/2008 00:36

Hi mm22, aha! I think you mentioned this before, brain like a sieve. DD is fine but very cheeky. She thinks mobile phones are for chewing, food is for throwing, and anything on a desk, table or chair that she can reach is for swiping on the floor!
emkana, sorry you are having to deal with scary Jeune's again, I remember when you first talked about it. How do they make a diagnosis?
Olismum, when DD's chromosones were being tested I visited this website for rare chromosone problems which has a lot of information, I had a brief look and it lists several chromosone 13 deletions.

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