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.

DD has a chromosome disorder, which although relatively rare, does have a national support group. When we got her diagnosis at 3 days old, they were the 1st people we spoke to. I still remember the conversation I had with the lady on their helpline to this day and DD has just turned 18.
We meet up with the support group every couple of years, which is great, but the syndrome is so varied (DD being at the severe end) that not all the info we get is relevant. I have found that local knowledge of parents of children with all sorts of different disabilities is often just as relevant - as the biggest challenge is finding out what is available locally, and how best to negotiate 'the system'.
We had no idea before DD was born that there were any problems, so naturally we were devastated to get the diagnosis - although it was obvious at birth that there were serious problems, and I can still visualise the panic that went on in that delivery suite all these years on!
As there was no Mumnsnet Special Needs in those days, I think the best support I got was from the Special Needs playgroup which was run by our local Child Development Centre, where the staff were extremely supportive and many of the other parents I met there, I am still in touch with now, as their DC's have gone through the same SN school as DD - and we are now helping each other through the maze called 'Transition' into Adult Services and Further Education.

Would love to watch this thread, but not sure we can offer much info.

DS1 has a chromosome mutation that was maternally inherited (from me, and me from my mother) which has never been recorded elsewhere. None of us have any idea if this disorder actually means anything. DS1 has an ASD diagnosis. I am dyslexic. My mum never was diagnosed as anything and no one has ever suspected anything. We've been told sometimes chromosome mutations can have implications for one person, while not be active in another. So all in all, we really don't know what any of it means and our genetic counsellor has left us not much wiser?!

Our genetic counsellor tells us science is moving at a great pace and it won't be long till we probably know more. In the meantime, this is a topic we like to follow. Thanks for setting the thread up.

DS (nearly 6) has a rare chromosome syndrome. He had his diagnosis when he was 2. We've found that it's not so much the 'services' that we've come across, but certain people that really keep us going.

We had a brilliant pre-school home visiting teacher who opened a lot of doors for us & always believed in what we were saying & ds's abilities.

Now we have a really wonderful P1 teacher (in a special needs school) who is more like an extension of myself to DS. :)

We are also part of an online support forum/FB group & have attended a Unique study day for ds's particular syndrome.

Welcome to the thread everyone.

MommyUpNorth - it's still very early days for us but already I agree with you re the people rather than the services. Most of the medical profession we've dealt with in the last few months have been great but a couple of people we see regularly have been truly wonderful, my health visitor included.

Did you find the Unique study day useful?

DH and I have been offered a test to find out if one of us has abnormal chromosomes which would explain DD's condition. We're in two minds about whether to go ahead - I'm worried we'd feel that we were to blame if so. On the other hand, if it is one of us then we run the risk of having another child with the same problem.

I don't think we have a choice, just being cowardly and putting it off!

Hi may I join. Our DD 7 is adopted and has Emmanuel Syndrome. She was diagnosed shortly after birth and inherited from the maternal side. She is not typical of the syndrome as she has other problems thrown in for good luck.

On the plus side despite having a myriad of health problems has a delightful
personality and is very popular at SS.

We too have joined Unique very helpful

I understand what you say about testing for you and your DH. It is difficult as you don't know how you will each respond if the results show that one of you is a carrier. However, if you intend to have more children (although appreciate it is probably not on the immediate agenda if your DD is only 3.5 mths), then it will be important to know one way or another ....... if it would make a difference to your decision to have more children or not.

DH & I were tested, but neither of us are carriers of DDs defective chromosome, it was just what was described as a 'sporadic event'. We were told that it was unlikely that any subsequent children would have the same condition - but never say never. And of course there was always the risk that subsequent children could have a different condition as we were still at the same risk as the rest of the population.

So to be tested or not is entirely a personal decision and depends on what future decisions you may or not make based on those test results.
I still had a CVS test done at 11 weeks in my 2nd pregnancy, as DDs difficulties are quite severe and I don't think I could have coped logistically with a 2nd child with similar problems. Having said that... DS turned out to have HF ASD so is in some ways more difficult than his sister at times...... so life is never boring.

Good luck with whatever you decide. Have you seen a Geneticist yet to talk it all through? We were very lucky as our regional geneticist just happened to be visiting our area when DD was 2 wks old and had an appt free.

Yes, we've seen a geneticist who was excellent. He explained all about what she had missing and what it might mean for the future.

We will definitely have the test if we decide to have another child but we're not really sure about that at the moment.

If we don't have another one then I want to be very clear as to the benefits of being tested as I think we'd be even more devastated if it came from one of us.

Hello BlueBird, glad you have set up this thread

Ds (2.4) is part of a study for a rare disorder, which his geneticist believes he has. I knew from birth that something was not quite right, but he wasn't assessed until he was 6 months old, but still seemed like a newborn baby. he has had a raft of tests - mri, blood tests, scans etc. Now we are part of this study, his paed describes his disorder as a working diagnosis. For us the feeling of limbo land and not knowing has been one of the hardest things, and has made it more difficult to access certain areas of support.

He sees a SALT, physio, occupational therapist, hydrotherapist and a portage worker. We also attend a special needs nursery, and although he is going to attend a mainstream preschool, we are looking into a special school for when he starts primary.

Sometimes I feel overwhelmed by all the people involved in our lives, and the sheer amount of organisation it takes to get the right support, and sort out appointments etc. On the other hand it is good that the days are so full and life is so hectic, because it stops me worrying about the long term future, there is too much to deal with now, and what is coming up next! The people that have been most helpful to us are portage (really advise you look into this, as it is a wonderful thing in the early days) and our gp, she has been a rock to me and is always happy to see ds with any worry that I have.

Dh and I are about to have a blood test so that our dna can be part of this study too, although the disorder is usually de novo. I am am keen to have this done, partly because I would like to reassure our older dds, if ever they decide to have children, also because I know there is a history of a variety of issues in my family (learning disabilities and mental health issues) but also because if I put our personal involvement with the world of genetics to one side, I find the whole field fascinating (have Genetics for Dummies on my bedside!)

I meant to add - as if that wasn't a long enough post already! that some of the best support I have had has been on here, I have made some genuinely fantastic friends, who I can talk to in a way that I can't with many people in rl. It is also a great way of getting advice on the best way through the maze.

We have portage scheduled for when DD is 6 months old. I guess the advantage of an early diagnosis is you get early intervention which can only be a good thing. I know what you mean about the number of appointments etc but I do believe they're all useful and I'm grateful that we're already in the system and don't have to fight for things.

I do feel overwhelmed if I think about the future. I still can't deal with the fact that my beautiful little girl may not have the life I envisaged for her. Not sure there's an answer to that.

DD#1 (8yrs) has a 16p11.2 microdeletion. We are waiting currently for results from blood tests from myself and DH to see if she has inherited it from one of us or not. She has ASD, APD, verbal dyspraxia and fine motor skills issues. We only found out about her chromosomal issue in May after several years of looking for answers, and then only because I pushed for genetic testing after finally getting her autism diagnosis. Seems the consultant who gave her the ASD diagnosis was more surprised than us when the genetic test picked up an issue. She does have some subtle markers with face shape, finger shape etc so perhaps that was why I was less surprised?

We are waiting to see the genetics people in December to learn more about this particular issue, but it seems that the internet has a fair amount of info too and sites like Unique and SimonsVIP have been great as well as a couple of facebook support groups I have found too. Depending upon our results when they are available we may have to test our other two DDs as well, but no signs of ASD for either of them at least, though I'll reserve judgement on DD3 as to whether she may have some issues (she is only just 3yrs now). She has been through her own problems last year anyway with her health but that is another story!

Hi from across the pond.

We are a family with a chromosome disorder. Bee was the first diagnosed, then they tested me. The condition is maternal inheritance and 100% of the offspring have it but it varies in expression - DS and I are proportionally very mild and would never have been diagnosed if not for Bee.

For her, the diagnostic journey started early... she had a stroke before she was 3 weeks old, but it took several years of new, odd things popping up for the docs to finally put them all together and realize the stroke was a symptom, and not the cause, of her other issues.

DS is doing well for the most part medically, he has some milder issues, but they have not stopped him from becoming a strapping young man (5'10" at 14). I am definitely seeing progression myself, but nothing overwhelming aside from muscle weakness.

I avoid groups associated with the diagnosis - they either seem to be some sort of hero worshipping cult for particular doctors or consist of a high proportion of "my kid is sicker, deteriorating faster, closer to death and more deserving of your sympathy than yours is". The condition is degenerative, and in many cases terminal, but the "woe is me" tends to come from those on the milder end of the severity spectrum.

BeeMom totally agree with your comment "my child is sicker than yours" those whose child is really closer to death keep silent.
Am watching across the pond with interest today. Will be 'phoning DB in Houston later

We're not in the US... I am a bit north of there (although whatever happens will affect us significantly).

As for the "my child is sicker" comment... there is a disturbing trend on several message boards to list diagnoses like a laundry list, and when those don't seem enough, then they add all the medications a child is on, all the "equipment" and interventions they receive and so on. This is all rolled happily up into a signature file and posted under EVERY SINGLE THING they write in the board.

Bumping out of the twilight zone for you.

Btw, I searched for bluebirdonmyshoulder.

The genetics thing is always hard to deal with. The endless waiting while they look in the "usual place" for a genetic marker, only to come up empty and to therefore stick with the clinical dx. Hard stuff.
The endless appointments, then the huge amounts of surgeries to fix things or to give a better quality of life. All exhausting. The stares, the questions, the pitying looks, the shock on faces. All very tough to deal with, but you get use to it, you get harder as a mum and you learn what works best for your child and you become an authority (with well researched opinions) on your child. You become more empowered the further along you are with this. We have two children with the same syndrome. It has been an emotional rollercoaster that has opened our eyes to a different reality, but we are still here, still smiling, and still fighting our corner.

I really shouldn't have had that second glass of wine....

test post as this thread seems to have disappeared from the board

No it hasn't. I've just replied!

oops x post, thank you EllenJane

Definitely was missing, there's more missing between 11 ish and 5 ish.

Feeling good tonight as had an encouraging appointment today. In some respects bluechick is doing much better than expected!

Hope everyone is ok tonight.

Cheers

Found you! Thanks Bluebird for starting this thread and EJ for bumping it out of the twilight zone.

My DD is 4.9. She has extra material on chromosome 9. There are other factors that make her condition v. rare but when she was first diagnosed it was the information on duplication of chromo 9 that we were given as most closely matching her karyotype.

We were told when she was 2 weeks old that she had a chromo abnormality and it took another 5 weeks or so for us to be given the detail of the affected chromosome and then a few months before we saw the geneticist for the karyotype. The waiting and Googling I did in the interim were hideous.

My DH and I were tested straight away when DD was 2 weeks old. Looking back we didn't even hesitate because we didn't think it through, we just did it. In our case that was prob because we already had an older DC (NT) and were unlikely to have any more children although as I say I didn't consciously think it through at the time.

We were devastated by the diagnosis and I must admit that I grieved for the baby I thought I was having for a very long time. I remember DDs first birthday - it should have been a celebration of her life and all that she had achieved - but for me it was just a reminder of the day our lives changed forever and we stopped being a "typical" family.

I hope that's not disrespectful to anyone on this thread, I obviously don't mean it to be, it's just how I felt at the time.

Now, with DD 4.9 I can say that I'm definitely through the worst (about time!). DD makes us smile and laugh and is a happy soul who loves us and her DB with an innocence that is very humbling. She also causes us untold stress and worry . I've had to train myself not to let thoughts wander too far into the future because I am prone to looking on the bleak side.

DD has achieved more that I dared hope she would back in the dark days of first diagnosis. We are hoping that she will start MS school next September with a 1:1 (we deferred her for a year).

I would agree with others that MN SN has been the most useful resource for us latterly with Unique being the most useful and supportive in the very early days - Beverly the CEO was very generous with her time answering my emails.

Anyway, sorry for the long ramble - just a bit excited that there's a thread specially for our DC

Best wishes to you all. x

X-post with you Bluebird whilst I was writing my epic post! So glad to hear you've had a good appointment today.

Welcome everyone and sorry that you 'qualify' to be here. It is so devastating to find out your DC has something wrong and it seems to me that the rarer the condition the crueler it seems. "Why me / my DC?" x 1,000,000,000.

We were devastated by the diagnosis and I must admit that I grieved for the baby I thought I was having for a very long time. I remember DDs first birthday - it should have been a celebration of her life and all that she had achieved - but for me it was just a reminder of the day our lives changed forever and we stopped being a "typical" family.

I can relate to this. I feel immense guilt at my feelings towards bluechick and the fact she's not the baby i dreamed of. And yet I love her so so much. I feel my heart is breaking several times a day, even on good days like today.

Bluebird I haven't any words of wisdom to ease the pain you're feeling right now. What I can say is that I think you're doing much better than I was at 3.5 months. I'm not sure that I could have said I loved my DD at that point . I felt protective of her absolutely and did absolutely all I could for her but I didn't feel the "rush" and overwhelming love that I had with DS. I found DD v hard to relate to, she didn't smile or react the way that NT babies do and it took a pretty long time for the bond to grow. But it did.

I love my DD with all my heart now. Would I change her chromosomes? Yes, in a heartbeat. Would I be without her? Never.

Am I being too honest here? Heart on sleeve, that's me

You are doing so well already and with time, it will get easier. You're entitled to grieve and you're entitled to feel how you feel right now. Be kind to yourself, it's only been such a short time x