I've been told today that DD's genetic blood tests show a problem...

[MaryPoppinsPenguins]

Is anyone around who can help me make some sense of this?

Her neurologist actually called me so I would get a shock when I got the letter with an appointment to see the geneticist at St Georges. He said its such a rare thing it doesn't even have a name, and that he could read it out to me but I wouldn't understand.

Is anyone a geneticist... Can anyone give me some info? Friday afternoon is a terrible time to get news.. !!

[Parietal]

without knowing the gene labels, I'm not sure any geneticist will be able to say much. research on genetics is getting so much better that now they find genes for things that 10 years ago would have no name and no one had any idea about it. but if it is very rare, then knowing the name of the genes probably doesn't actually change anything. Your child is still your child and needs the same kind of care, regardless of the name of the genes.

[Gingeete]

my DD has a genetic disorder which impacts hers and our life daily. We were expecting a diagnosis and although it's rare there are others in the country who have it. I am assuming your child has some problems which were being investigated? Hence the geneticist? There is a Facebook group called SWAN which is syndromes without a name but also really really rare syndromes which may have a name but means nothing to anyone else. Maybe have a look on there and ask some questions. Friday's are awful days for huge news.

[MaryPoppinsPenguins]

She has a delay of around 12 months and some behavioural problems. I just want to know what it is this means... I've got six lines of gobbledygook and Google is very unhelpful... I have no idea what to expect or what will happen. She had the blood tests such a long time ago, and she's been coming on in leaps and bounds. I'd convinced myself she was fine and would catch up... Since I had the call I feel such anxiety it's almost hard to breathe. O don't know how I'm going to cope until Monday with no information.

[MaryPoppinsPenguins]

Thankyou for the replies

[BoulevardOfBrokenSleep]

DS has something similar, and sounds like similar sort of problems? Developmental delay, some random 'autism-like' symptoms, low muscle tone and poor balance etc.

Unique www.rarechromo.co.uk/html/home.asp have been really helpful to us, they collect information on all the people that have a particular genetic thing going on so you know how other kids are getting on.

Like your DD, DS is currently only a little bit behind his peers which I find quite reassuring. He definitely has a section of DNA missing, but it's not affecting him too badly, sounds like your DD may be the same?

Did your letter have a code like 8p23 or something in it?

[fanjoforthemammaries7850]

She hasn't changed because you got the letter. She's still the same lovely child and will still come on in leaps and bounds

[beautifulgirls]

DD1 has a genetic problem and like you when we were told they wouldn't tell me what it was because it is "just a code". When I got the letter through with the report I was able to look up more information and at least for us there has been info available and active research in the UK and particularly USA into her specific deletion.

Facebook for us has support groups for others with the same issue and this has been a big help. Sadly the genetics consultant we saw after her diagnosis knew very little, handed us a printout from rarechromo that I had already found myself months earlier and left us to it from there telling us she could come back when older to discuss the risks of passing this on to her children when she is older. I know they cant be experts in everything but it was a fairly pointless meeting sadly. DD has 16p11.2 deletion.

[Gingeete]

If it is very rare they may only have a couple of any examples to compare. Just from experience of a friend of mine the fact it has a name, no matter how obscure is a good thing as its a "diagnosis" so in order for you to get assistance and help having a label opens doors. This won't help you over the weekend but will long term. Try to focus on how much they have developed and blown your expectations. It's not surprising you feel anxious, it would be more concerning if you weren't. My daughter also has developmental delay, learning difficulties and social/emotional issues but she has blown apart my expectations. X

[MaryPoppinsPenguins]

I've been reading the Unique website and I think I've found the code for what she has.. I'm not entirely sure what to do with it though?

[MaryPoppinsPenguins]

It's xq28 deletion

But a lot of other words / numbers / letters too... But this features a lot.

[BoulevardOfBrokenSleep]

You should be able to dig up some information about how other DC with that diagnosis are getting on? But with DS's deletion, there was such a range of possible outcomes that it actually wasn't that helpful and I've just decided to take each day as it comes, pretty much.

Having said that, our diagnosis was a relief really as his symptoms could have been muscular dystrophy or spinal muscular atrophy or other horrible things, I was worrying about those for the months we waited for the genetic results.

But having a firm genetic diagnosis was helpful because it allowed us to access NHS help (physio/speech therapy etc) without people just raising their eyebrows and implying maybe he couldn't walk because I stuck him in front of the TV all day or something. Thanks.