Support thread for Chromosomal/Genetic testing and diagnoses

[glimmer]

Hey all,

My daughter, 15 months, is currently tested for genetic abnormalities, because she is not gaining weight (failure to thrive). It will be a few months before we get the initial results back but my understanding is that this might just be the first set of test and the we might be in for assessment over the next several years. Is anybody else interested in a support thread for those waiting for results, those who have gotten them back and are adjusting to the findings and those who are willing to share their stories and knowledge?!

Hiya hazey,this is a hard one.I know when we were searching for a diagnosis we were so desperate to find the answer and even now when we are trying to get an answer to increased seizures the dr's say there is no quick fix to all this etc but of course we just want answers.I suppose the sensible answer would be to wait for the results for each test-easier said than done i know.But i suppose you could discuss your findings with the paed.Some take things that you say on board others don't but it would probably make you feel a little better as it will make you feel pro active iyswim.

Hi all, my name is lauren and i am the project coordinator for SWAN UK which is a support project for families with children with undiagnosed genetic conditions / who are going through the process of diagnosis. If you would like to be able to chat to other families in similar situations to you and access information about genetics please do come and find us on facebook under SWANchildrenUK or check out our blog www.swanuk.wordpress.com. You can also contact me directly on [email protected] or 0207 7043141.Take care and good luck, Lauren

you can also access information and support about rare chromosome conditions from UNIQUE, the rare chromosome disorder support group www.rarechromo.org

thought I'd give this a bump and see how everyone is getting on

dd3 has settled into her new ss really well, and has been a star with all the assessments she's had to get through. Finally feel like we may be on the way to getting her an education!

Hi i can't believe i missed this thread ! DD is 3yrs 6 months and has had a deletion of chromosome 22 come up on bloods and we see Geneticist Dec 13th .

Hi spiritsam, my middle son has the 22q deletion. He's eight now & doing really well. If you want to chat ask on here or feel free to pm me. Hope apt goes well.

Hi Slightlycrumpled
Thanks for the welcome . Glad your son is doing well :) What should i expect at first app and do they generally do further tests after please ? x

Hi Everyone!

Great news that DD is enjoying school Ninja.

How are all the ladies that are expecting? We have a few now don't we??

Hope your apt goes well Spiritsam, how did they discover the deletion - was it with a microarray?

Things are busy here - DS1 is due to start pre/pre school in Nov, yay! I'm nervous and excited. We've also just signed our DDD consent forms and sent them off! Have to keep reminding myself that we won't get any answers in the short term if at all!

spiritsam DS2 was diagnosed when he was just four, and we suddenly found ourselves in an even bigger whirlwind of appointments than we had before! The genetics apt though was quite straightforward with her explaining which piece of dna was missing and then taking blood from DH and myself to see if we also had it. Apparently people can have this particular syndrome and not know it, it is very rare for that to happen though. I think over 90% of the babies born with the 22q del it is just something that happened rather than any inherited link.

DS also had / has such poor speech I have never heard a child speak quite like him (& he is in a S&L unit), after the syndrome diagnosis he was seen by a maxiofacial consulatant who diagnosed a hidden type of cleft palate which he subsequently has had operated on a couple of times with huge improvements to his speech.

He was referred to an immunologist for a very thorough going over. At the time he was constantly unwell with frequent monthly admisssions. Again this was helped by a permanent prophalactic course of antibiotics.

There were other referrals to various consultants and to be honest getting the diagnosis meant that things changed dramatically for him, and to be fair for us as his parents. We were suddenly taken very seriously, if he is unfortunate enough to be poorly enough for an A&E trip, we no longer have to wait for hours as they now know how quickly he deteriorates. School has been another issue but one that is now sorted.

I do hope you are okay, I can remember the feeling of shock and sadness when we recieved his diagnosis even though we just knew something wasn't right from birth really. It's still a lot to come to terms with and accept but it does get easier, truly. The same goes to all the others on here going through it at the moment.

Hi 2011rwc am not sure what test it was but it came up when they were testing for Fragile X , Caeliaac e.t.c x
slightlycrumpled Thank you for sharing with me , my DD has poor speech too along with a list of other things :) I was shocked whed her Paed rang me a told me about the deletion as just did not expect anything to show up . Had never heard of these deletions e.t.c but have been doing lots of research and trying to get myself ready for anything that she has to go through . School is a nightmare for me at the min as trying to get ready for reception next year even thought about deferring . First c.a.f meeting next Friday and sent request for assessment for statement . Not found a school yet am happy with but more to look at x

Hi, I hope you all don't mind me coming on this thread, I would so appreciate any advice. DD is 2.9, and following referral by HV (not meeting milestones), we have been told she has developmental delay. I have just received a copy of a report following her multi-disciplinary assessment, which states that she has a carp mouth. I have googled (i know, bad idea), but I haven't really been able to find out much about it. Any references which I have come across relate to chromosonal disorders, which has left me a bit shocked as the doctor did not mention it during the assessment. I have requested to speak to the doctor to ask about it, but I was wondering if anyone here knows anything about this. Thank you very much

Marchduck - God I hate doctors when they do this - don't give you all the info or just send it out in a report afterwards when you've no-one to speak to and only Google to rely on. Grrr, it causes so much unnecessary worry and upset.

Anyway, try not to panic. Basically with all devel

Marchduck - God I hate doctors when they do this - don't give you all the info or just send it out in a report afterwards when you've no-one to speak to and only Google to rely on. Grrr, it causes so much unnecessary worry and upset.

Anyway, try not to panic. Basically with all developmental delays, there must be a cause, this can be a number of different reasons! One of which COULD be a genetic or chromosomal abnormality and often doctors look for genetic indicators which might help them look in the right direction - there are many...wide spaced teeth, low set ears, snub nose, large forehead, prominent jaw the list goes on. Carp mouth is one of these but don't forget that many of us also have unusual features with no developmental delay again this is down to our genes - we've inherited big ears or a big head from our parents. Unusual features won't always mean a chromosomal problem. Are they doing any tests?

Hi Spiritsam - have you joined Unique? I'm always interested with stage people get a diagnosis. Anyway, hope you are Ok - have you done anymore school hunting? It's all a bit of a minefield isn't. My DS is due to start SN pre school in Nov - I'm :) and :( at the same time!

Oops sorry about my half post!

2011RWC - thank you so much, I appreciate your advice. DD definitely inherits her wee snub nose and big forehead from me! The approach seems to be wait and see - DD has been referred for a series of six development intervention appointments, with a review again in six months. I asked the doctor at her assessment what might be the cause of the developmental delay - the response was that there are a number of causes. My sister is a GP and having read the report, she thinks that I should ask the doctor if tests would be appropriate - my sis isn't familiar with carp mouth herself, but then she'd be the first to say that paeds is a specialism. It's all a bit of a minefield, I don't want to come across as a pushy mum, but I want to make sure that I do everything I can for DD, she's the light of my life.

Marchduck sometimes you have to be pushy. When it involves our kids anyway!
Would your sister be able to back you up with pushing for genetic tests?

Hi Sport (waves) don't generally come on this thread, should do I suppose with the boys having Fragile X...I get daunted by the number of pages!
So apologies to Marchduck if your daughter has had the genetic tests, I only read this page!

It's great that she is having the early intervention apts - hopefully as part of these you will see a physiotherapist, occupational therapist and speech and language therapist all of whom should be able to give you exercises and ideas on how to help your DD with areas of development where she is behind and this is the most important thing at the moment - that she (and you) are getting all the help available. The cause is of course important but for now focus on the help and I say this as someone with a DS also with developmental delay and as yet no diagnosis.

The list I wrote of genetic indicators is by far not exhaustive in fact anything 'unusual' can warrant further investigation when it is grouped together with any other medical problem. Wide spaced teeth or cluttered teeth - small head/large head - prominent jaw/receeding jaw and so on. I think in the report referring to a Carp mouth was really just a descriptive term for the shape of her mouth tho. It may be worth asking for a referral to a geneticist, our Paed said that my DS had no obvious features yet the geneticist picked up on numerous ones within minutes of seeing him.

I do think tho that

Sorry pressed done again too soon.

I was going to say what unpa1d said it would be worth phoning and asking about testing. It may be that her delays are only slight and that with a bit of help she'll come on but no harm in getting the ball rolling so to speak.

2011, I'm so pleased you got your preschool place, that's fab news Is the aim of the DDD study to get answers for families or purely research?

marchduck, it's perfectly ok to be politely pushy, sometimes it's the only way to get things moving, in a system that is restricted largely by budgets it's often a case of she who shouts loudest gets. It could be something, it could be nothing but dr google really isn't your friend here, I think I can say we've all managed to scare ourselves stupid doing this, most of the time completely unnecessarily. I hope that doctor gets back to you soon, do chase them up if you don't hear from them.

unpaid it has got a bit long hasn't it?! When were your boys dxed?

I think it's both Ninja - to try to diagnosis 12,000 children with undiagnosed developmental delay and use this information to compile the most comprehensive database available on symptoms so that they can cross reference this with new cases of unexplained delays. Hopefully enabling future families to get a diagnosis much more quickly. They'll be using the latest microarray technology and also 'writing out' each child's genome code in an attempt to find the abnormality. Any abnormalities will initially be checked against parents to make sure that it isn't just a normal blip. I suppose they'll be hoping Yo get a greater understanding of what each gene is responsible for with their findings. Its going to take years tho!

Yes sorry Sport but I can only think of you as Sport!!! Sport suits you better haha.

Agree with Ninja; the squeaky wheel gets the oil. For the doctors its all just another day while you're sat there chewing your nails down to the quick...they don't have the sense of emergency or needing to know obviously (although i'm sure they would be different if it was their own child)

Ninja I got eldest DX'd at age 2.3- he's now 14 and a half. Youngest DX'd at 13 months.
And (Queue fan fare and marching band) my littlest bubs is 13 Today!
So it's quite old hat for me in many ways. Although i have 2 other daughters aged 20 and 22 i feel like i have only ever really parented children with FXS and it's been in my life forever IYSWIM.

Happy Birthday for yesterday! 13!! Wow - did you all do anything special to celebrate him becoming a teenager?
When does your DD hit the road?

unpaid, happy birthday to your ds Hope he had a good day. Dd3 is 5 and I too feel like I've been doing this forever as well yet 13 seems so far away, for dd3 anyway, dd2 will be 13 in january! The last dc of our sn baby group starts school this week, it just doesn't seem possible that they've all got so big.

2011, that sounds really interesting, hope you get some answers! We've got no further with dd3 but it doesn't seem such a big deal since we got the dx.

Thank you so much for all the advice, it is so appreciated. Hopefully I will be able to speak to the doctor sometime this week and ask some questions. DD's main delays have been assessed as receptive and expressive speech and language, attention and listening, and play skills. She does have widely spaced teeth and her head is small in proportion to centiles for her height and weight, so I guess this is worth asking the paed about. I had the initial referral by HV in Feb this year - it has been a surreal experience. Everyone loves DD, and I think for that reason some family members are a bit in denial about her development; "there's nothing wrong with her" "she'll catch up" etc. I am determined to hope for the best and be positive, but at the same time, I know that I need to be realistic and make sure DD has the best chances . Reading this thread, and getting your advice, has been enormously helpful and inspirational.