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?!

Thanks for asking. Again a better day here.
I try to follow the "one thing at a time advice" and in this terms nothing has changed from last week. (Except my whole life outlook :-) )

1980 - this is good news isn't it? Or would a dx be helpful to you? Is at a condition that
can be detected via micro-array? If so, and if you want a dx, can you push for it? It's a very comprehensive and expensive test, but then you wouldn't have all the waits and uncertainty? And if it come back clear, then you can exclude many things.

How's everybody else?

Hi glimmer.. glad you're ok.

Re the micro-array test, for anyone else considering it, it is possible to get referred by community paed for it, I pushed for ages and was told no, but then we paid for one visit to a private neuro (expensive but i think less than cost of test - not sure?), who recommended it in a letter which I showed the community paed. That seemed to make it easier to get the referral. In case this helps anyone thinking of trying to get a CGH array done.

To add to JoMaman's comment:
The array cannot detect single-gene disorders, e.g. so it couldn't detect e.g. cystic fibrosis or celiac's desease. So for some disorders it might not make sense.

1980, hope you get some answers soon.

glimmer, pleased today has been better. Dd3 had the sweat test for cystic fibrosis I think, she had some really dodgy blood results that indicated all sorts of issues that didn't seem to fit the symptoms

so I'm a little confused, I thought cgh and micro array were 2 different tests?

Bigcar - I am fairly sure cgh and micro array is the same thing. FISH seems to be different. I am a bit confused. You have a dx, but you don't know where the problem lies exactly?
Yes, you can do other tests for single gene disorders, if you suspect them.

Glimmer, glad you are feeling a bit better today.

Blimey, it's really complicated isn't it. I'm afraid I know very little about micro array, but know they used the FISH test for ds. He has a tiny deletion (amazes me that such a teeny bit of chromosome causes so many problems!) of the 22nd chromosome. I'm pretty sure that it is just to test for known disorder though.

Oh I'm confused! Is going about could she explain things better?

Glimmer - I kind of think it as no news, it still could be this syndrome because they haven't done all the tests for it yet so I just feel we're another step along the journey. But it still doesn't as though we are any closer! I'd really like a dx, I don't think I can deal with years of this ahead, and apologies because I know that's what many of you have already done! To me it feels like like groundhog day, waiting for the post, diving for the phone every time it rings! Does it get easier?

I think the other cause for ds' suggested condition is a mutation so I'm not sure if that is picked up on the microarray?

Thanks bigcar

Hi 1980,

Am no expert, but a scientist, so getting info is one of my coping mechanisms.

I looked at the leaflet for AS (it's under
Robertsonian Translocations) at

www.rarechromo.org/

From what I understand it should be diagnosable beyond doubt with micro-array.

There is also a support group www.angelmanuk.org [email protected]

If you contact them or Unique, they will tell you for sure if a micro-array would detect it for sure. Might be worth an email and then you can push for what you need.

It's so hard to push when you are in need of support. That's why we are here.

1980 - Mutations will be picked up for sure.

Okay I will try to mimic going's allegory.
(Take it with a grain of salt - I might be wrong...)

The micro-array looks if every page of the book has the right sequence of words, but there might be spelling error in a particular word that would go unnoticed.

FISH looks if the letters in the words on a particular page are in the right sequence, but it only looks at one page at a time. So you have to know where to look.

So if you know on which page to look at, you wouldn't do a micro-array but FISH. But if you can't find anything on this page, you might want to scan through the whole book via micro-array.

My DD is one on her own and we don,t care!
the latest results took 3 years to arrive.
We have been put on the world wide web to see if there is anyone else.
There is no point in getting stressed whether you have a name or not the out come will be the same {smile}

Thank you glimmer - I think I'm beginning to get my head around it all! I have read a lot on the testing for AS and again I think I understand!!! Part of the problem is the information we are getting from the geneticist doesn't really match up with what we are reading so that is confusing us more!! Getting any information is such a battle, it's driving me mad!!

here and here

you may have already see these 1980 but they may be useful for others-obviously not re AS, but the tests work on the same principles.

Hi monstermansmum - I've seen both of those, the Australian site is excellent, I've even drawn my own diagrams out! But the terminology the geneticist uses doesn't match what we are reading which is why we get confused - we think ds has had a normal Methylation so next stage is the gene testing!
Thanks for the links and glimmer too for the explanation, sorry I feel like I'm taking over this thread!

No, you're not :-) I wouldn't dare come back if it weren't for you :-)

Push the geneticist to explain it to you! Also, different countries use different words, that doesn't help!!!

oops. looked at the webpages monster posted and it seems I was wrong wrong wrong.
Sorry. I thought I had understood this...

It's very complicated!!
We're going to write to/email the geneticist with our list of questions. We thought DS was having the microarray because the geneticist said they would be looking for deletions in general as he had nothing in mind, then the neurologist said he had an AS look so we contacted genectist again and asked was he considering AS he said yes and when pushed he confirmed that he wasn't thinking of anything else!
So is he not considering anything else because each test can only be done one at a time due to the expense? I found your comparison of the two systems very interesting Glimmer as the cost of these tests hadn't really dawned on me - of course they'll not order a whole pile of them to be done at once when they are so expensive!

What's next for your dd - you said she had no delay but does she need any other therapy or treatment? How is your dh finding things?

Bigcar - have you got the CF results or are you still waiting for them?

ethel I think you are right that there is no point getting stressed when you can't get a diagnosis, though that is easier said than done

However, it can help with the isolation to be part of a group that deals with a particular diagnosis, especially one that is big enough to run conferences and have medics with specialist knowledge etc.

However, my chief desire to get a diagnosis is so DS's siblings have some idea of how inheritable his condition is.

Someone said that you can't join Contact-a-Family unless you have a dx for your dc. I know I get regular emails from them and you can use their resources. If there is something we are excluded from, then perhaps they need to set up a section for undiagnosed kids since we make up such a large group?

dd3s syndrome was first dxed in the 1950s so before there were all these fancy tests available. It was known to be an uninherited genetic sydrome that was characterised by distinctive depigmented skin markings that follow a certain pattern with the person having a very vast range of other difficulties. Like goingroundthebends ds you collect a lot of different dxs until eventually someone clicks that is probably down to more than just bad luck so you get referred to the geneticist who is usually the first person to take any notice of the skin markings and often dxs on the spot.

as it is mosaic syndrome and not every cell is affected it's not easy to test for because you may not pick a sample with affected cells within. Brain mri and skin biopsies are standard, the mri usually shows malformation but typically the biopsy doesn't show a result.

as the mutation happens early on when the baby is only a few cells big, the point at which this happens is important. If the mutation happens at an early cell division then the child will be more profoundly affected, if it happens later then the effects will be much less and the person may just think they have some odd pigmented skin. So there may be a lot more people walking around with this that have no idea as it doesn't affect them.

current thinking is that when genetic testing gets much better they will discover that different people will have a different genetic cause and the syndrome will no longer exist in it's current form but be split depending on what gene/chromosome is affected. At the moment almost no one in the support group has a specific gene/chromosome identified to be the cause of their difficulties.

so the upshot of all that is that we have a dx but no definitive cause. Bet you're sorry you asked now

cf test was years ago now and was all clear

(drinking tea and trying to get my head around it all)

Sorry bigcar - misread the cf bit thought it was a recent test. So do you see the geneticist on a regular basis or are you part of other studies?

Donkey - I get regular information from CAF too but I wanted to get in touch with families in a similar situation but they wouldn't put me in contact until we had a definite dx and they didn't have anyone on their list with undiagnosed gdd. Didn't mean to make it sound like they were unhelpful because they were very good. But again highlights the importance of a dx which I would also like for all the reasons you have stated :)

How is everybody?
Bigcar - thanks for the explanation.
There is much I have to learn...

1980 Great you are having a list for the geneticist. Didn't realize that there are syndromes, that you can "sometimes" detect with the array and sometimes not. That must be along Bigcar's explanation line, that different genetic conditions are grouped together into the same syndrome?

I had another breakdown yesterday and am barely functional today. I am in the "why me" phase. My god 1: 200 000 000 and dd is the one.
Wouldn't be so bad if I had not been the 1: 1 000 000 before .... (Note to self - must play lottery)

The worst is that I have lost my innocence.
When DD does something unusual I immediately think:
this is the first sign. She has started to make this horrible sound when she wants something and I know I would react differently had I not a dx....
Sorry - I realize that for most of you a dx would be a blessing. But for me it's a curse right now... By the way, DD is developing probably below average, but she has met the official milestones so far. That's the straw I was holding on to. I am so worried that my changed expectations will be a bad thing for her...

How do you deal with this?

Hi Glimmer - all I can say is this and it's such a cliche but time really helps! When we first seen the geneticist, I cried non stop for a week, why us, why ds, it's so unfair.....! But then it became, well why not us? Lots of other families deal with SN and much worse but have happy, fulfilled lives! And ds is who he is and we adore him, ok so his future might not be exactly what we'd planned for him but it's just going to be different! I found the welcome to holland poem really helped me, I think I read at just the right time - others hate it so if you don't like it apologies!!
I completely understand the bit about the unusual! Everytime ds does something strange I'm like is this condition or is this normal toddler behaviour - the hardest thing for me is not understanding what ge wants or what is upsetting him, at the moment he seems to hate sitting in his pram, is he just bored, is he uncomfortable - I just don't know!
I think the things that have helped me are planning and researching - I'm doing a makaton course soon, got lots of SN books to read and of course MN. I've already 'met' online some lovely people who'd I'd never have got the change to meet if it wasn't for ds!
It's better this month than it was last month and i know we have lors of challenges ahead but we'll get there and so will you!

Excuse the typos - I can't seem to change mistakes once the post gets past a certain size on this stupid phone!

Glimmer, it is very early days for you. Yes, you will be noticing things and be attributing them to her diagnosis, but normal life will return. Truly it will.

Give yourself some time to try to come to terms with it all.

Echo what Sport says Glimmer.
My elder boy was just turned 2 at dx and I remember sitting in geneticists office while he sombrely told me my child would have a lifetime of severe disability and in laymens terms would never grow up!
I thought to myself 'ok so he'll be a typical bloke then'!
Bit different for me cos once we got his diagnosis we immediately had to get younger son tested which took months, so I kind of focused on that, then we had to get our girls tested for carrier status so that was our next focus.
But I do remember being completely numb- for quite a while.
Research into the condition focused my mind, learning about it, learning about how the children were likely to be affected, how we would etc.

Just remember she's still the same child after dx as before and will still have her own personality whatever her condition.