The DDD Study

[SallyBear]

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?

[babiki]

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

[fanjoforthemammaries7850]

Yes, we are too

[SallyBear]

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.

[fanjoforthemammaries7850]

No..nothing so far.....

[babiki]

No news yet...

[LalaSalama]

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

[LalaSalama]

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

[SallyBear]

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.

[eminemmerdale]

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]

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

[SallyBear]

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.

[MareeyaDolores]

Is the Wellcome Sanger Institute called after Margaret Sanger?

[eminemmerdale]

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

[SallyBear]

Reconstruction is not for everyone.

[used2bthin]

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]

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]

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]

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]

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

[sioba]

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]

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]

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

[Obstacles]

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]

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.