Here some suggested organisations that offer expert advice on SN.

DD has a genetic disorder so new it doesn't have a name yet!

(22 Posts)
Arabica Fri 10-Sep-10 14:51:38

Hi! DD (4) has GDD and functions at around the level of a 2 year-old.
She has slightly dysmorphic features and her geneticist had varous tests done in her first three years to see if she could come up with a diagnosis.
One of those involved sending a sample off to Holland where research was being done on the 9th chromosone. Initially her results were normal but now a tiny deletion has been found on a gene called EHMT-1 and the adjacent gene, and apparently she is one of just 4 cases known about worldwide! We are hoping to meet them one day when the study is published and more info can be released.

Preciousdaisybear Fri 10-Sep-10 16:54:36

Have you been given Unique's details? It is a organisation to support parents/carers/silbings and of course the children with rare chromosome disorders. Our DS2 has a partial deletion of the long arm of Chrom 6 that is only identified by a karyotype. Like your DD only a handful of children with the same condition are known about. Our DS2 is now 6 and we are still coming to terms with how all our lives have changed and the ongoing problems that his condition raises. However, life is good and his smiles are to die for...

bigcar Fri 10-Sep-10 21:08:33

oh Arabica, that sounds good smile Do you think you'll get input on the name of the syndrome then grin Your dd always reminds me a little of my dd3, how's she doing?

Arabica Fri 10-Sep-10 21:45:40

yes thanks, have been on Unique's website. DD is doing well, making progress according to her own timetable. She's v sociable and loves climbing, biscuits and Mr Tumble--often all at once.
Having a diagnosis doesn't change anything, of course, but it feels like now there's a club we can join, if you know what I mean.
Bigcar, how is DD3?

Arabica Sat 11-Sep-10 09:43:39

Have found out more information--it's not that she has a new syndrome entirely, more that she has been diagnosed in a different way, as only part of the gene is affected. It's known as Kleefstra syndrome and I have found a website from the US with lots of kids who look a bit like DD.
She has some other characteristics that the children on the site don't seem to share (unusual dimples on her shoulders and a bit of muscle wastage where the collarbone joins the shoulder) so maybe that's something unique to her.

donkeyderby Sat 11-Sep-10 10:11:13

I'm delighted that you have found a diagnosis and that more children are finally getting diagnosis thanks to better testing.

DS1 is 14 and has no diagnosis. I can't tell you how desperate I am after all these years, to get a diagnosis.

bigcar Sat 11-Sep-10 17:23:09

arabica, dd3 is a massive something special fan, it's the only tv she'll watch or rather can watch given her rubbish vision. She too plods along at her own pace, still waiting for some discernible speech but she manages to be sociable and get her point across which is pretty good. Know what you mean about joining the dx club, also makes form filling easier, just a couple of words to write instead of pages of symptoms grin

donkey, I hope the future brings a test for your ds1 that will give you some answers. Although dd3 has a dx, we don't know which chromosome is affected, could give us a better idea of the future if we did. She had a blood test called comparative genome hybridisation earlier in the year where everything gets broken down into much smaller pieces but it all came back normal again as all the others have done.

MommyUpNorth Sat 11-Sep-10 20:33:00

Hi Arabica! Can't really pass up this thread... ds (nearly 4) has Kleefstra syndrome (which was only named at the conference in April of this year). There is a forum hosted which a UK family has set up, and there are a few families over here. If you want any other details of websites, publications or anything, just let me know!

I'm glad that you have finally found some information about your dd's condition.

saggarmakersbottomknocker Sat 11-Sep-10 22:07:01

Arabica - hello you smile Good to hear dd is doing well.

Arabica Mon 13-Sep-10 01:30:33

Hi Saggars, are you still running? I just did a 5K, very slowly but great to be out there running regularly again.
Mummyupnorth, wow! I would love to know more about your son with Kleefstra. Could you email me at bergmann dot grainger at btinternet com?
bigcar, we are trying to get DD to like In the Night Garden but it's a struggle.

Arabica Mon 13-Sep-10 01:31:29

Donkey, i hope one day you get a diagnosis too

bigcar Mon 13-Sep-10 09:27:39

arabica, we tried itng with dd3, she likes the books but not the tv hmm She'll watch small bits of big barn farm as she's not long discovered animals but that's about it. Fantastic for you to have met mommyupnorth too!

saggarmakersbottomknocker Mon 13-Sep-10 18:10:04

I am Arabica but struggling with my achilles at the moment and more than a little frustrated. I need to run for my mental health as much as anything else as I find it a real stress reliever. Glad you've got back out - you never envisaged such a long break did you? smile

roundthebend4 Tue 14-Sep-10 04:58:24

Donkeyderby have you had a microarray done at all

it's a more indepth test where they take a chromosome apart and look to see if any changes within it as could be deletion between 2 points on a chromosome ds is having his done as genetics feel he has a chromosome problem on top of the other stuff

Arabica did they take blood from you at all been told that depending what shows up that they might have to then check that the gene is not just a nutrual family mutatio.n which is totaly unrelated to ds3 Kind like you I'm finally hoping to have a answer a name even if dos not change the treatments

Though he does want bloods from us all as found it unusrual to find whole family with EDS

roundthebend4 Tue 14-Sep-10 05:00:49

BigcAr ask about microarray it's one step further

Kaz01 Mon 25-Oct-10 21:49:55

Hi my 2 boys have kleefstra syndrome (9q34.3 deletion syndrome) with the lack of support we get from family members and social work we are finding it hard to struggle. we only got the diagnosis last year. and i have found out myself has mosaicism and 9q deletion.so its called mosaic 9q deletion. but i dont show any signs of a learning difficulty.

i find it really hard as we dont get counselling about it. and sometimes its causes me to go into depression. i dont need drugs i have a group to help me.

Kaz01 Tue 26-Oct-10 11:28:08

apart from me and mummyupnorth and arabica has anyone else of u have children with the kleefstra syndrome.

paigeysmummy Sun 23-Dec-12 07:41:35

Hi my 4 year old has kleefstra syndrome, I'm in the UK if anyone else is?

quaversaver Wed 20-Mar-13 11:16:31

Hi We have just had a diagnosis for our grandaughter of Kleefstra Syndrome, she was in hospital for 7 weeks and needed oxygen constantly, she is now only using it while sleeping (at home) We dont know to what extent her problems with be for the future. she is only 5 months old. We are in Manchester and would love to hear from anyone local

hazeyjane Wed 20-Mar-13 11:48:22

QuaverSaver, have you found the Kleefstra Syndrome page on facebook - they are very lovely, and have been a big source of support since ds started being tested for Kleefstra (the initial test came back negative, but because he has so many of the characteristics of the syndrome, Dr Kleefstra's team in holland have asked for him to be included into a study to see whether there are other candidate genes which can be included in diagnosis).

There are several families in England as well as other parts of the world on the facebook page.

There is also a very good website and forum here.

Oh and there is a meet up in Coventry in August of families affected by kleefstra syndrome, to which dr kleefstra is coming to do a talk ( the details are on the Kleefstra facebook page)

quaversaver Wed 20-Mar-13 15:48:21

Hi Hazeyjane yes we have joined the forum on facebook and hopefully will be going to Coventry in August. It is good for your son to be included into a study,

quaversaver Thu 21-Mar-13 11:48:40

does anyone with Kleefstra Syndrome live in or near Manchester

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