Can you advise me?

[bsac15]

Hello.
I'm new, so please excuse the lack of abbrevs. (Ive also just re-read this - apologies for its length).

I've recently been told my 18 month old daughter has a chromosome disorder. But have been given very little information apart form the karvotype.

As far as i'm aware she doesn't have anything life-threatening but I also don't know what she may have.

Ive found an excellent organisation called Unique - who have been fantastic and given me any info they have.

I suppose I am writing because I'm scared.

Unfortunately, this 'discovery' should have been picked up at the begginning of the year, but no-one seemed to be too concerned that she wasnt reaching her milestones.
And we should have been told the test results a few months ago - but due to a hospital over sight, we were overlooked.

My daughter has seen a physio but only because I made a really BIG fuss. And the exercises we were given 3wks ago seem to be making a difference already.

I have been assured today that the relevant referral letters are definetly being posted out first class today.

My question is - how long should I wait before I start making a fuss?

i'm sure you'll get lots of great advice on here, but not from me because i'm thick.
but welcome to mumsnet.
you might get a better response if you bump your thread in the morning.

hi , just make a fuss whenever you feel the need, thats how i do these things.so far making a fuss has got dd4 peadi appointments brought forwards(sooner),got her a carer for nursery(teaching assistant ,just for her)and into prefered nursery(out of catchment).so go ahead ,make a fuss,if you dont ,you'll not get what you need for your little one! , happy xmas !

Lol Dragon, don't sell yourself short

I'll bump it for you bsac and it might just be there in the morning for the clever ones!

Hi bsac15,

it is appalling that you had to wait that long for the results and the little amount of information given. With the holidays in the way I would wait 'til the second week of Jan before checking at what stage the referrals are, but after I would ring once a week!

Well done to your daughter for having already made progress in 3wks.

Sometimes, a chromosomal disorder has no name and would be referred to by the karyotype.
The number followed by either a 'q' or a 'p' represents the number assigned to the chromosome (the affected chromosome). Numbers after q/p represent the particular point(s)-cluster(s)of genes-on that chomosome that are affected.
Autosomal means that typically there are two copies of that chromosome (named 1 through to 22). You can have conditions that are 'autosomal recessive',which means that both copies have been affected. or 'autosomal' dominant, where only one copy is affected.
Letters as X or XX,(Y or XY for boys)tells you the gender. But if the letters are XL,it means it is a X-linked disorder.

Have you tried to google the karyotype to see if you could get more info on the disorder?

I hope this helps a little.

My view is that it's never too early to make a fuss. Especially since you've had such a catalogue of errors by them in the first place. Make careful notes of every phone call and visit, every promise, every detail.

And welcome! Lovely people on here.

The info I was given was that that the earlier the intervention then potentially the better. So make a fuss! sadly I find I constantly have to kick off to get action in certain areas(n ot physio, ours is BRILLIANT and incredibly caring), mainly Social Services for respite.

Hope all goes well for you, welcome to Mn x

Thank you to all of you for responding.

I was a little tired and down in the dumps when I posted my thread last night.

Fava - I have spent alot of time on the web - inputting the karvotype code - not alot has come up. But I'm aware that each child is unique.
We have had more info from the Rare Chromosome Organization (Unique)than from the doctors so far.
Fingers Xd we get to see a genetist sometime very soon.

Ive become aware of how far my daughter is behind coz my 5 month old looks set to overtake her in the near future.
And Ive started making that horrible mistake of comparing children.

I will definately be making a few calls in early January.

I've been reading Mumsnet for about 2 months now - and I can tell from the posts that there are alot of lovely peeps supporting one another here!

Merry Christmas and may 2009 be kind to you and your families.

Hello and welcome to MN. Sorry you've had such a rotten time from the professionals so far. Agree with others - it's never too early to make a fuss. Also agree with the poster that said to chase up all the referrals in early Jan- and when you chase them up, find out the likely waiting list time.

Some things - you may want to consider applying for DLA - others will know more than me, but you would apply on the basis of your child needing more care than others her age. Some areas have specialist HVs for kids with SN, and many but not all areas have a portage service (people who come out to your house to help your child learn through play). If you've not got on the list for speech therapy then I would look at getting a referral for that as well.

Hello, welcome and Merry Christmas.
In my other life that I hope to return to this year, part of my job involves dealing and appointing referrals for clinics. My advice would be to wait till mid January to let the paperwork get where it should be and then start to make tentative phonecalls. Just introduce yourself, explain your VERY good reason for checking up that the ref has been received and ask roughly how long the waiting list is. If its 8 weeks, phone again in 7 and check where you are again (some people will jump ahead of you due to perceived urgency) if you haven't heard anything. Then ring weekly. Make it clear if you are available at short notice for a cancellation, or if you need notice to arrange care for other DCs for example.
I encourage people to phone me as often as they want to for updates. I'm on first name terms with many and have been known to bend a few rules wherever I can.
Even if you feel frustration getting the better of you (I know I do) be as nice to them as you possibly can. They will be a part of your life now (sadly) and tho they will understand, it is worth keeping them on side. I can recall names, addresses and arguments of those who have been extremely rude to me and never forget it. I won't go out of my way for them again! I keep that in mind now that the boot's on the other foot!
So, make contact and keep in touch sort of sums it up really.
And claim DLA too. Here's my favourite link again. I found it most helpful. Good Luck.

Told you the good advice would be along soon.
have a great christmas