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Here are some suggested organisations that offer expert advice on special needs.

Original poster

The DDD Study

28 replies

SallyBear · 10/05/2013 14:59

We are now being included in the study as the three known genes for Treacher Collins Syndrome came back negative. Anyone else taking part in this study?

OP posts:
babiki · 10/05/2013 15:35

Yes, we are, have been for a year now.

fanjoforthemammaries7850 · 10/05/2013 15:51

Yes, we are too

Original poster
SallyBear · 10/05/2013 15:52

Any news? We've had blood in a lab in Germany now for three years, but they've not matched anything to the study that they're running so we are being put forward for the DDD Study and tested for Diamond Blackfan Anaemia. Interestingly there are links between Autism and some craniofacial syndromes.

OP posts:
fanjoforthemammaries7850 · 10/05/2013 15:53

No..nothing so far.....

babiki · 10/05/2013 15:54

No news yet...

LalaSalama · 10/05/2013 15:55

Yes we are also in it. We sent in the samples over a year ago.

LalaSalama · 10/05/2013 15:57

They rang after a year to confirm some details so doesn't look like a quick process!

Original poster
SallyBear · 10/05/2013 16:10

That has been my experience too! It takes forever if whatever they're looking for isn't glaringly obvious. I think that we've been included into this group as we don't fit with their original clinical diagnosis anymore.

OP posts:
lisad123everybodydancenow · 10/05/2013 18:06

This reply has been deleted

Message withdrawn at poster's request.

eminemmerdale · 10/05/2013 18:09

We are too! HAve been for around 2 years I think. Had a letter a while back saying they still hadn't found anything more out about genetic microtia but still working on it.

eminemmerdale · 10/05/2013 18:09

They don't really have a clue is the answer I am expecting Grin

Original poster
SallyBear · 10/05/2013 18:17

Eminemmerdale - we have Microtia here too, but its a marker for so many syndromes. They mapped DD's DNA last year but haven't written up the report yet.

OP posts:
MareeyaDolores · 10/05/2013 18:54

Is the Wellcome Sanger Institute called after Margaret Sanger?

eminemmerdale · 10/05/2013 21:08

it's an isolated condtion for us - we know each other through the fb page anyway Wink although I;ve left now - too mant reconstruction junkies for me :(

Original poster
SallyBear · 10/05/2013 21:11

Reconstruction is not for everyone.

OP posts:
used2bthin · 10/05/2013 21:29

We are in the ddd study . They are using dd's DNA that they already had as she would not do the spit tube, she can't bear stuff about her mouth even me telling her what to do made her gag. Had phone call in feb but heard nothing since.

lougle · 10/05/2013 21:37

We've been in the study since August 2011, so coming up 2 years. When I last phoned our Genetics nurse for the study, she said there's a huge delay and they're only just getting the first results in.

We were one of the first to be recruited in our area, so I suspect if you're just getting spit tubes, you'll be 3-4 years down the line for results.

eminemmerdale · 10/05/2013 21:41

sally no, but too many people wanting it with no thought for the children or being prepared to listen and I couldn't stand it anymore! (sorry OT)

trace2 · 10/05/2013 21:46

we on ddd study too have her back not found anything on first part but told us that it carries on till its finished

delllie · 11/05/2013 21:14

We sent our tubes off in July last year, haven't heard anything off them at all.

sioba · 13/05/2013 17:49

We are awaiting referral - it seems no one is getting results then? I guess I haven't yet entirely accepted that we won't get a diagnosis.

DisAstrophe · 13/05/2013 20:12

We're in. Sent the tubes off 8 months ago - not even heard that they received them (despite it saying in the letter that you'd get some sort of confirmation). Actually reassuring to hear that others eventually heard something.

Chiqita · 06/05/2014 22:10

Hope someone has now gotten some results? We set the samples off in Janiary this year and heard nothing... now understandable

Obstacles · 07/05/2014 22:18

We've sent off the tubes 20 months ago and have had nada back. On the ddd website it says your geneticist will be in touch if there are results of interest. Trouble is we have no on-going contact with our geneticist and he wasn't the best at keeping us informed even where we were under him.

lougle · 07/05/2014 22:42

We had a letter to say that there were no findings so far for DD1. We've been in the study since a few days after it opened in August 2011.