Chromosome disorder thread

[Bluebirdonmyshoulder]

I'm told there's no dedicated chromosome disorder thread so I thought I'd start one!

I know some people (myself included) won't want to state the specific disorder that our DC is affected by as some are so rare it would 'out' us, but I think a lot of the effects of chromosome disorders are quite similar.

My DD (3.5 months) has a very rare disorder. She seems to have quite a few of the more minor physical effects and none of the serious ones thank goodness. As for the learning difficulties, time will tell.

We are in the process of joining Unique etc and have had her exact karotype matched.

So come and chat about your DC, how you felt when they were diagnosed, what services you've found useful, any particular groups etc.

[auntevil]

Can i mark my place?
GP has referred for genetic testing - so right at the start of what could be an interesting journey.
Messmonster - you struck a chord definitely. DH has extra on chromosome 9, but it has never been taken seriously by anyone - pre DCs or post.
Now it might have nothing to do with chromosomes, but when you have 3 DC with strikingly similar problems and physical dx, you start to get a bit twitchy as to whether it is genetic or not.

[MyCannyBairn]

Our dd has a very rare mosaic condition, and although there is a UK support group she doesn't share a lot of the more extreme presentations, but did have other problems which had to be fixed, I did float about other forums for the other individual problems but always felt a bit out on my own because most kids only had the one problem the forums were supporting, iyswim.

[Sleepstarved]

Thank you for starting this thread.
Waves at Hazey.
My DD has a partial duplication and fingers crossed seems to be on the mild end of the spectrum.
Nothing on Unique matches her and we have avoided reading about whole duplications of the same chromo ect as the spectrum is too wide and it's too upsetting to worry about things that may never trouble her.
She is delayed in her gross motor and speech, but is making good progress, attends mainstream nursery two mornings a week.
She had physio, but they are less worried now she can walk a little unaided and has portage once a week but again they are not sure they will need to continue next term.
No salt as yet, keep saying too young, but we may go private before long.
DH and I have both been tested, as I was pregnant again, and were negative as is the pregnancy.
We are hoping an NT sibling will help DD but totally get the fear of future stuff.
I just try not to think about it.

[Bluebirdonmyshoulder]

Welcome ladies, sorry you have the need to be here.

Bit of a milestone today - went to my first 'baby group' after hiding away from the world since DD was born. She has a couple of ususual features and I was terrified someone would notice.

Maybe they did but so what. It felt good to get out and be just another mum for an hour.

The fear of the future stuff is never far from my mind sleepstarved. I wish I had a solution for us all. I truly can't bear to think of what might happen to her in the future.

messmonster I think honesty is very good, no matter what you say. If we can;t be honest on this thread then I don't know where we can be. I fell out of love with DD when we got her diagnosis. She wasn't what I'd signed up for. I was like you, did what needed to be done for her and felt very protective but I couldn;t call it love. I love her now though and can't really pinpoint when that changed.

[TheNinjaGooseIsOnAMission]

hello everyone My dd3 is 6 and also has a rare syndrome, although they've not yet managed to find the chromosome causing it yet. We came at this a different way from some on here in that dd3 had issues from birth but didn't get a dx until she was almost 2, so actually the dx was a huge relief and actually helped pull everything together for us. Hers is de novo so none of the other dcs are affected, we have our ups and downs but things seem pretty stable for now

portage was probably my favourite service when dd3 was little, we didn't get 1:1 for ages as there was a huge waiting list but they also ran a weekly play and stay session at one of the childrens centres which I absolutely loved and met some lovely people too, some of us are still in touch now all our dcs are at school.

[bigwombat]

Hi all, my dd2 is now 11 and has an as yet unidentified genetic disorder. Her DNA (and mine and her Dad's) is currently in a study in Cambridge but not holding out much hope now that they will find what is wrong (we've been through quite a few phases of genetic testing, without outcome). She is doing well now, since she had a gastrostomy about 18 months ago, and is nearly walking independently :). She loves school (unlike her older sister....!)

[Bluebirdonmyshoulder]

I had a good day yesterday, went to a baby group for the first time. Was quite a big step for me as have been hiding away from the world. It went well and bluechick seemed to enjoy it. She's doing really well.

I know a few people on here have mentioned Unique but I wondered if anyone had joined another organisation, Chromosome Disorder Outreach. They're American and the website is www.chromodisorder.org/CDO/

Have a good weekend everyone.

[proudmumto6]

Hi all im new to mumsnet but just seen this i have 6 children 2 of my boys have 16p11.2duplication we found out 2 yrs ago about the duplication and 18mths ago i was told i carried it and had passed it onto them further tests revealed my mum also has it.. My boys are affected in total different ways but both have complex needs and require a lot of support,my mum also is affected and needs support yet im unaffected have few odd traits but nothing that needs support.

My 4yr old also has a very rare chromosome disorder 3q26.33-3q27.1 deletion hers is the only one registered worldwide atm and is de-novo she has given us a learning journey thats been interesting ,heartbreaking and amazing..

Then i have 2 others one is currently under the GOLD study at Cambridge where they looking for gene mutations as his micro array came back fully normal, and my youngest who has only recently become a cause for concern has been tested for 16p he doesnt have it and genetics are now testing him for his sisters 3q deletion there a 1% chance he has that i will be totally gobsmacked if he does!!

Im a member off UNIQUE and quite a few support groups on facebook

[5madthings]

Waves at proudmum was just about to message you about this thread :)

[proudmumto6]

I was being nosey and spotted it lol :D xx

[messmonster]

Wow proudmum. Total respect to you. I cannot imagine how you manage to support all of your children. I have 2, one NT and one with a rare chromo disorder. I cannot imagine being able to cope with what you have on your plate.

Am in awe. And welcome to the Board btw

[Bluebirdonmyshoulder]

Welcome proudmum and I'm rather in awe of you too!

Wanted to ask some of you on here actually if you thought learning about ABA would be valuable for a child with a chromosome disorder. There's another thread running about trying to set up a course. I know ABA is recommended for autism but I'm interested as some children with my DD's condition can display autistic traits. But I wondered if it had applications for development delay / learning difficulties more widely.

I'll ask on the thread but wondered if any of you had more knowledge.

Thanks

[messmonster]

Hi Bluebird. Possibly a vested interest here , but everything I've ever read on here is that ABA can work for anyone, any time! I just typed an explanation as to why that is but I'm not confident enough in my knowledge so have deleted it!

Please do post on the other thread and someone, probably Starlight will post what ABA is and give you a better idea.

What I can say is that we've been doing an ABA lite programme with my DD for the last 18 months and it's only because of this that we've seen the progress we have.

[Bluebirdonmyshoulder]

Thanks messmonster it sounds very encouraging. Will do anything to give DD every chance to hit her potential.

[Bluebirdonmyshoulder]

So DH and I have decided to have the genetic testing to see if we're the cause of bluechick's condition. Not sure what would be worse, finding out it's one of us or finding out just how rare the chances were of a new condition.

We've also found out that bluechick's condition may be a bit worse than we thought. Just feel so sick and heartbroken today, not sure if I can do this. Why did this happen?

[auntevil]

I have been thinking a lot about whether it is me or DH that might have passed on something 'dodgy'. The fact is that there is no way of knowing before conception, what might/might not get passed on, mutated etc. It's all % chance.
Does it do any good apportioning blame? no. Your DD is your DD and will be loved as she is. Yes, hard work might be looming, but I can honestly say that even the times that I could wish them further, I would never be parted from my DSs
Knowing what I know now, would I change my DSs - never. To me they're perfect and part of me

[cantbelieve]

Can I join too my 9 month old DS has just been diagnosed with a rare chromosome deletion syndrome, its not good at all, lists such as severe retardation, not walking or talking. We feel like our hearts have been ripped out. Is there anyone here in herts ? Could really do with a friend in a similar position as all my friends have healthy perfect kids and cannot understand. Thanks and hugs for all of you who understand and your amazing kids.

[Bluebirdonmyshoulder]

So sorry to hear that cantbelieve, bluechick has a v rare deletion too and her worst case scenario sounds similiar to your DS. DH and I also feel like our hearts have been ripped out. I'm not in Herts but not a million miles away, will be your friend if you want.

Feel free to PM me if you don't want to share identifying features openly.

Have you heard about Unique, the rare chromosome charity? We're in the process of joining but have delayed as joining makes it too 'real'.

auntevil it's comforting to hear your words but I'm not there yet sadly. But thank you.

[TheNinjaGooseIsOnAMission]

Hi cantbelieve, have you been in touch with unique or contact a family yet? They may be able to put you in touch with a family with the same deletion, if there's a name for the syndrome search for yahoo groups and facebook groups too. It's awful to sit there and read a list of things that will be different for your child, really awful, the list for dd3's syndrome is long and includes uncontrollable epilepsy, no walking or talking, deaf, blind, severe learning difficulties (just for starters!) but actually having been in touch with the support group I haven't come across anyone who has all of those things. These lists are usually all the things that could possibly happen but as with most things, there's generally a spectrum within that, some people may have more symptoms than others to a greater or lesser extent. Dd3 does walk, has some speech and also signs so gets her point across well, she has learning difficulties but not to the predicted level, so far no epilepsy, these lists are no guarantee of what your ds will or won't achieve, just a possibility. Be kind to yourself, have a glass or two of wine and come back and vent here whenever you like!

[messmonster]

Just to echo what Ninja has said. My DD has already achieved many of the things that we thought she might not manage in the early days. We had the not walking/talking potential prognosis too.

My DD is hopefully going to be attending a MS school next year. Albeit with full support, but even so, the fact that we think it's the best option for her at the moment, hopefully gives you some hope.

Bluebird and cantbelieve you really are in the worst possible period right now, where all you have to go on is the information about what might be when your DCs haven't yet had time to show you what could be. I promise it will get better but I do remember being where you are and just never believing that it would.

Not sure if that's helpful in any way but lots of empathy from me and virtual hugs if you'll accept them. I'm also near to where you are, so if meeting my DD would help in any way (now or in the future), please feel free to PM me. x

[messmonster]

Btw, I'm due to meet again with the other child on the Unique register with the same disorder as my DD this coming Sunday. He's 18 months older than DD and the first time we saw him, he gave me so much hope.

[BeeMom]

For those who have been given a "gloom and doom" prognosis... I would like to introduce to you my daughter - who we were told would require total care for her entire life.

"She will not walk or talk"

"She will never be a contributing member of the family"

Yes, her condition is degenerative... yes, she is under the care of Hospice now... but for those who said she would never be aware of her surroundings, let alone communicate - I say... go crap in your own sandbox.

No one knows what the future will bring, but if we honestly make what the "fortune telling" doctors tell us reality, our children will live down to our expectations.

Remember, there will always be people who will offer a shoulder along the journey - without them, it is a lonely path indeed.

[Bluebirdonmyshoulder]

Wow, what an inspiring video. I'm a big fan of your lovely DD beemom thank you for posting that. Whoever told you she wouldn't be able to communicate certainly can crap in their own sandbox!

messmonster thank you for the offer, I may take you up on that. It would be lovely to meet your DD and you. I am absolutely bloody determined that DD will exceed expectations, it's just so bloody hard to be positive and my heart breaks every day.

[cantbelieve]

Totally agree with bluebird, watching that video had me sobbing and hoping that my DS will defy his prognosis.

How do you just take each day as it comes, my fear is of the future, what he is like as a child, an adult, when we die etc etc and it eats me up inside, I think some seriously awful bloody thoughts.

[BeeMom]

I promise I will answer you in a little bit - it is 6:30 in the morning here, and the Bee's day officially starts at 7 - I have more to say than I think I can in the time I have without rushing.

Please know that your fear for the future is both healthy and to be expected. This is a wild ride, and when you don't know what is going to happen tomorrow, how can you feel secure that you can handle any further away than that?

We are with you...