Here some suggested organisations that offer expert advice on SN.

Chromosome disorder thread

(87 Posts)
Bluebirdonmyshoulder Tue 06-Nov-12 08:48:16

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.

bigbluebus Tue 06-Nov-12 09:27:56

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.

cjn27b Tue 06-Nov-12 09:30:35

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.

MommyUpNorth Tue 06-Nov-12 10:28:09

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. smile

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

Bluebirdonmyshoulder Tue 06-Nov-12 10:38:18

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!

2old2beamum Tue 06-Nov-12 10:40:32

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

bigbluebus Tue 06-Nov-12 12:58:33

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.

Bluebirdonmyshoulder Tue 06-Nov-12 13:05:11

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.

hazeyjane Tue 06-Nov-12 13:33:44

Hello BlueBird, glad you have set up this threadsmile

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!)

hazeyjane Tue 06-Nov-12 13:35:46

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.

Bluebirdonmyshoulder Tue 06-Nov-12 13:59:19

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. sad

beautifulgirls Tue 06-Nov-12 14:25:12

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!

BeeMom Tue 06-Nov-12 14:54:26

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.

2old2beamum Tue 06-Nov-12 15:10:32

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

BeeMom Tue 06-Nov-12 15:32:19

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.

EllenJaneisstillnotmyname Tue 06-Nov-12 21:07:17

Bumping out of the twilight zone for you. wink <spooky music>

Btw, I searched for bluebirdonmyshoulder.

SallyBear Tue 06-Nov-12 21:07:38

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....blush

Bluebirdonmyshoulder Tue 06-Nov-12 21:08:29

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

SallyBear Tue 06-Nov-12 21:08:57

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

Bluebirdonmyshoulder Tue 06-Nov-12 21:09:24

oops x post, thank you EllenJane

EllenJaneisstillnotmyname Tue 06-Nov-12 21:10:50

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

Bluebirdonmyshoulder Tue 06-Nov-12 21:24:15

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

Hope everyone is ok tonight.

Cheers wine

messmonster Tue 06-Nov-12 21:37:32

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 smile. 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 grin

Best wishes to you all. x

messmonster Tue 06-Nov-12 21:39:58

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

Bluebirdonmyshoulder Tue 06-Nov-12 21:56:18

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.

messmonster Tue 06-Nov-12 22:18:35

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 sad. 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 grin

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

auntevil Tue 06-Nov-12 23:01:58

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 Wed 07-Nov-12 01:17:33

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 Wed 07-Nov-12 19:21:07

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 Wed 07-Nov-12 22:34:57

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 Thu 08-Nov-12 16:01:50

hello everyone smile 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 <touches wood>

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 Thu 08-Nov-12 18:22:48

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 smile. She loves school (unlike her older sister....!)

Bluebirdonmyshoulder Sat 10-Nov-12 09:40:28

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 Sun 11-Nov-12 13:50:56

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 Sun 11-Nov-12 13:56:05

Waves at proudmum was just about to message you about this thread smile

proudmumto6 Sun 11-Nov-12 14:05:10

I was being nosey and spotted it lol :D xx

messmonster Sun 11-Nov-12 19:35:37

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 smile

Bluebirdonmyshoulder Sun 11-Nov-12 20:17:50

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 Sun 11-Nov-12 20:40:46

Hi Bluebird. Possibly a vested interest here grin, 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 Sun 11-Nov-12 20:56:53

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

Bluebirdonmyshoulder Tue 20-Nov-12 09:12:44

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? sad

auntevil Tue 20-Nov-12 17:24:40

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 smile

cantbelieve Tue 20-Nov-12 17:53:44

Can I join too sad 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 Tue 20-Nov-12 19:31:46

So sorry to hear that cantbelieve, bluechick has a v rare deletion too and her worst case scenario sounds similiar to your DS. sad 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. blush

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. thanks

TheNinjaGooseIsOnAMission Tue 20-Nov-12 19:50:11

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 <touches wood> 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 Tue 20-Nov-12 21:42:44

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 Tue 20-Nov-12 21:45:21

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 Wed 21-Nov-12 02:22:41

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"

This video proves at least part of that wrong

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 Wed 21-Nov-12 10:43:08

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 Wed 21-Nov-12 10:57:29

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 Wed 21-Nov-12 11:42:36

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...

auntevil Wed 21-Nov-12 17:39:11

Absolutely love the 'Christmas Expose - Bee style' grin smile . I always knew Mater was special - just not that he was 1 of the 3 kings!
My paed - who I have very little faith in - did write a very interesting report once with the word 'continuum' frequently used. I think it describes most medical conditions well. Drs can tell you points on this continuum - highs and lows - but they don't know where your child will fall on the continuum. You may also find that the position on the continuum changes over the years. Nothing in life is certain or guaranteed.

cantbelieve Wed 21-Nov-12 21:29:08

Reached a new low tonight couldn't even make it round morrisons shopping without bloody crying, life is a bitch and I dont think I can do this sad

Bluebirdonmyshoulder Wed 21-Nov-12 21:33:45

sad

No words cantbelieve just saying I'm here and I know what you're going through. I'm not sure I can do this either.

Can you go to bed and just leave it to DH tonight? You're still in such early days, everything you're feeling and thinking is normal. What real life support do you have? Can you get to see your GO tomorrow?

cantbelieve Wed 21-Nov-12 22:21:43

Hi bluebird not alot of real life support as no family on my side and my OH and his family are all 'thinking positive' (read total denial) my GP gave me sleeping tablets which are pointless. My best support so far has been my oldest son who at 8 is amazing and is always there for me with a hug when Im bawling. Will try and sleep and hope for better days for us soon x

BeeMom Thu 22-Nov-12 16:27:44

Cantbelieve, first of all - it is OK to have days where you want the world to stop, to swallow you up and make this all a messed up dream - we ALL do.

There is a difference between thinking positive and being in denial. I think positively, in that I get up every day, and then I start Bee's preparation for the day. This is a positive because, at that moment, she is still with us, we are at home, and we have to take the good where we can find it. Do I enjoy the hours of "extra" work every day that is unique to Bee and kids like her? Hell no! Do I accept it because it is what keeps her with us? Absolutely - I have no choice.

Thinking positively is what has a parent sitting with a blind child and "showing" them things, the same positive thought has a parent reading to a deaf child with the child's head on their chest, so they can feel the vibrations. Positive thinking parents buy shoes for children who are not supposed to be able to walk, and give their child opportunities unlimited by what they can or can't do.

I think positively in letting myself think that Bee is not a "typically developing 7 year old girl" but is a darn fine Bee. She picked up the nickname (we actually DO call her Bee at home) because of the bumblebee principle: aeronautical science and engineering have proven time and time again that the size of a bumblebee's wings in proportion to its massive body should make it totally unable to fly. The bumblebee, having never been told this, flies anyway. We let her guide us - once she begins to show the tiniest emergence of a skill, we grab it and follow her, supporting it along the way. She has learned to read, and she can almost count... pretty fine for a child who would "never interact with her environment".

But... next door, we have a little girl who is 6 months younger than Bee, but is so far beyond her developmentally that I am constantly reminded of the difference. Thankfully, she likes to play with Bee (the trampoline in our garden has really helped with the kids' social lives grin ) but no amount of positive thinking will make the ever-widening gap between Bee and her peers go away. I think positively (and appear positive) in public and when I am alone, usually in the shower or in the dark late at night, that is when I lose it. I will admit to occasionally having one glass of wine too many when there is a nurse here to care for Bee, eating a bit too much (or too little), and well... the eyesight issues I am having right now are directly stress related, so clearly I am hardly an authority on taking care of myself.

I can't imagine myself seeing her off to University, her daddy giving her away at her wedding, even her being able to leave the house unattended - we live in today with Bee because I can't imagine a future.

Denial is not healthy, but neither is denying yourself the right to grieve. You may be familiar with the "stages of grief", but when the thing or person you are grieving is still right on front of you, it takes on a decidedly surreal twist... I wrote something a couple of years ago that is how I see the emotional handling of our lives, because traveling through grief for us is entirely different... here it is, if you would like to read it

In the meantime, if you are not sleeping, please DO use a sleeping tablet, at least if your daytime fatigue is getting overwhelming. Don't rely on them every day, because you will find that there is no sleep without them, but there is no shame in needing to take care of yourself once in a while. This is still very new to you, and no one can predict the future. Right now, you are still reeling from the diagnosis and what it could mean for the future. You have a million questions and no answers.

I promise you, it WILL get better (or at least not sting all the time). I may be in Canada, but if you really need to talk, I can buy a long distance phone card and give you a ring.

cantbelieve Thu 22-Nov-12 20:55:48

BeeMom I take back what I wrote in your other post your not just an amazing lady, you are a f**king amazing lady and thats some of the most real and heartfelt advice I have heard so far in this crappy journey. Sending my love across the water to you x

StillinMyPJs Fri 23-Nov-12 13:23:10

BeeMom Thank you so very much for your beautiful post. It was just what I have been needing to read. I am on this lonely road a second (and third) time with my 6 month old twins. They both have the same incredibly rare genetic disorder that DS1 has. Until I read your post I would have said that all my positive thinking had been taken away with the diagnosis of the twins and I have really struggled with that. I can now see that I am positive in my actions with all three of my beautiful children. I feel a bit better now smile

BeeMom Fri 23-Nov-12 13:46:46

StillInMyPJS I am flattered. It is so easy to get SO stuck on a rough day (or time, or moment) that we can't see what we have done to get where we are. As our own worst critics, we can be VERY harsh and judgemental indeed.

Seriously, I'll bet all of us know (or know of) another family who has faced similar challenges - even if it is not the same condition or even the same family of conditions, we'll know someone who is dealing with a similar outcome (same therapies, similar struggles etc.). How many of us have looked at the mum from this other family and said "wow, she is doing an exceptional job considering all the challenges they are facing" .

The problem is... how many of us can even consider looking at ourselves and our families and saying the same thing? How many of us can say "this is not what I planned, but considering what we are facing, I am doing a brilliant job"?

I know I can't - and when others tell me I am doing a good job, I can't accept the compliment. They tell me that I am doing well, and immediately in the back of my mind, I start with the "if only you knew how messed up I am" talk.

Listen to me, and believe me - you are doing an awesome job. Your children love you, you are faced with exceptional challenges and you are rising to meet them.

Most importantly, you'll be OK.

messmonster Fri 04-Jan-13 15:41:04

Hi all. Thought I'd resurrect this thread to catch up with everyone and to see how Bluebird and cantbelieve are getting on.

I've hit a low point having had a very depressing Ed Psych report over Christmas. I'm desperately trying to hold onto the advice I always see on here that DD hasn't changed, she's still the same as she was pre-report, but it's hard smile

We have my DDs annual review this month which is being hosted by the school we'd like her to attend in September - I'm concerned about their reaction to the Ed Psych report too.

Anyway, that whinge wasn't my reason for posting. Hope everyone else is doing OK!

messmonster Sat 05-Jan-13 20:28:19

Bumpety bump

cantbelieve Sat 05-Jan-13 22:10:18

Hi messmonster, we are doing okay Ive decided the future is too bloody scary so I live one day at a time and claw onto all the happiness we can get day to day. Im on antidepressants now and they help take the edge of it, I cant believe Im on them as Ive always said I never would but its funny how life turns everything upside down. My little man is happy and thats all that matters and his smile is amazing.

Sorry to hear about the crappy report, I really hope you can fight your corner at the review coming up to gets whats best for her.

Take care all x

2old2beamum Sun 06-Jan-13 17:36:47

Hi all
We are still here things are on the up. Since DD4's colostomy dx of immune deficiency now having weekly infusions of gammaglobulin. Now I can do them at home so no probs smile
Hope you are all well and a happy new year to you all. Keep your chins up!

countydurhamlass Sun 06-Jan-13 20:10:46

hi, i have just seen this thread.

my ds has a deletion, 22q11. there are over 180 anomolies to it, everyone is different and no one has all of them. ds is very lucky seems to be mildly affected. we have had lots of hospital appts over the years however and 2 cleft palate ops. We found out due to genetics testing done when he had his first op as the hospital were doing research into cleft palates and links to medical conditions etc. his main issues are/have been his immune system, cleft palate (and associated problems), learning difficulties. he has to have routine and know everything about what is going to happen that day. he repeats the same questions over and over again, has slight OCD and autistic traits and there is a risk of him having mental health issues when older.

thought i would say hi

2old2beamum Sun 06-Jan-13 22:42:26

Hi countydurhamlass My DD 7 has translocation/deletion 22q11 (Emanuel Syndrome) She has repaired cleft palate,auto immune probs rectovaginal fistula. Your LO seems brighter she has no speech but does understand a fair bit I am certain she has autistic traits. She is under GOSH where they are talking about doing research.

Sleep well hmm

Bluebirdonmyshoulder Mon 07-Jan-13 01:33:19

Hi everyone. Thanks for resurrecting the thread, I've been hiding away recently.

Just about to go to bed but will check in tomorrow.

hazeyjane Mon 07-Jan-13 09:14:04

Hoping everyone is ok, be good to hear how peoples dcs are getting on.

We have had a hiatus from nursery and therapy and appointments, with christmas and various illnesses. But we have opthamology, cardiology, a paed appointment and a meeting about ds starting preschool coming up, so the year starts back with a vengeance!

auntevil Tue 08-Jan-13 17:25:47

Just got our 1st genetics appt through - finally and it's next week. I think they must have got bored of me keep asking where they were on the list grin
What are the must have information to take with me?
Any advice welcome as well.
I had some from Ninja Goose as it will be the same consultant. She said that the Dr looks very intently at your features while she talks/listens but doesn't look at you in the conventional way.

BeeMom Tue 08-Jan-13 18:23:32

Take a day and email ALL members of your and your partner's families and ask them about all the medical issues (not accidents/contagious illnesses) that they can remember in themselves and other family members. Take all that information and put it into a table, print it and bring it with you.

The one I assembled listed:
Full Name at birth (a LOT can be discovered by that - for example, my mother's maiden name was a big clue - one of the conditions in my family, malignant hyperthermia, is quite rare, but there is an enclave of people from the eastern part of our province with her surname where the incidence is much MUCH higher
Date of birth (approximate, if that is all you have)
Date of death if appropriate (or age at death, if that is all you have)
Any medical conditions (common like cancer/heart disease too, you might find things that surprise you in their responses)

Start with your DC's Siblings, if they have any, then you and your siblings, your parents and their siblings, and your grandparents and their siblings. Do the same for your partner. Then, at the end, list any odd things that don't fit in that category (for example, nieces and nephews, or cousins... so on). If you get everyone to contribute, your work will be more assembling the information. Bring copies of the responses, too, so you can refer to them if the doc asks.

Bring photos of your dc from birth and every few months until the present. This can show more subtle facial features that might be less evident as they grow, covered with hair, or perhaps your dc is less than cooperative and will not allow the geneticist to look closely.

I also brought a chronology along... with developmental milestones and medical issues both identified on the same document.

Now... none of this is mandatory. For my DH's side of information, at Bee's first genetics appointment I was able to only give what we knew of him - he is adopted. I spoke to his mum about his early years, and asked him what he could remember, but we really only had 1/2 of a picture. Sometimes geneticists have nothing to start with, and have to make educated guesses.

All the best - remember, nothing in genetics moves quickly, even if the geneticist is almost positive they know what the issue is, they will not diagnose until there is genetic proof. This is frustrating... BUT... there is a reason behind it. Once the geneticist says it is X, all other consultants take it as law, and no one will look further. In our case, Bee has been diagnosed with several different things, and for others, because the specific genetic markers cannot be located, she remains undiagnosed. Bee's geneticist is positive that there is a genetic link to all her challenges, but it has not been identified yet. Until then, she remains without an umbrella diagnosis.

auntevil Tue 08-Jan-13 19:36:34

Weirdly, I'm the adopted one in this family - so a similar situation of not having the full picture.
DH's side is like getting blood out of a stone. I have tried to make gently probing questions in the past. FIL gives the same answer about all relatives who have died when I ask what was the cause - answer; "lack of breath". Helpful - not.
MIL is slightly better. I have explained what we are doing and why it is important. Will have a nice long chat with her this weekend!

cantbelieve Tue 08-Jan-13 19:46:36

We didnt see genetics until after we got the results of the microarray stating ds has fox g1 syndrome, so our appointment was a bit pointless, he took photos of ds and got us to give blood so me and dh can be tested for any abnormalities, but we have no history on either side, so he said its most likely a de novo ie new mutation, and its just one of those things that happen, nothing we did or didnt do caused it and that even though ds has a label he is still unique as all kids within any syndrome vary in symptoms. Good luck.

TheNinjaGooseIsOnAMission Tue 08-Jan-13 21:44:08

auntevil, that is fab news grin leave plenty of time to get there, especially if driving, parking is a nightmare, plus finding the right place to be ain't easy! Also pregnancy history in detail as well as the family history, I couldn't give much family history due to no one being available to ask. She wanted a blood sample from dd3 at the appointment so maybe be prepared for that, have bribes ready. Do chase her up if she runs/promises tests/referrals. And good luck, let us know how you get on smile

auntevil Wed 09-Jan-13 17:12:12

As you know Ninja - the chance of anyone that drives going to the appointment is zero biscuit - so it will be taxi to the front door.
The rest of us will be going though - me and 3 DS. The appointment starts after school.
I'm going to get the info all ready as per BeeMom - and try to remember pregnancy history. Amazing how vague each pregnancy is. I remember little bits, but forget which happened with which birth blush
Bribes will be at the ready too!

TheNinjaGooseIsOnAMission Wed 09-Jan-13 19:08:33

oh no, take some unflattering photos, it's the least you can do grin

StillSlightlyCrumpled Thu 10-Jan-13 10:22:04

Just coming on to say hi & special hello to countydurhamlass. My ds2 has 22q1 deletion too. He is 9 now & doing fairly well.

countydurhamlass Thu 10-Jan-13 17:28:18

stillslightlycrumpled, hi there. i am presuming you meant 22q11?. my son is 9 now also and after years of various hospital appts we have managed to narrow it down to a handful of check ups each year! however, on the school side of things he is slowly falling further and further behind the other children in his class (currently mainstream at the mo)

goshua Thu 10-Jan-13 23:06:44

Confused my Grand children were diagnosed (pre adoption) foetal alcohol syndrome were classic. Were re diagnosed chromosome disorder's for adoption, will both need lifetime support.

StillSlightlyCrumpled Thu 17-Jan-13 19:07:28

county yes, sorry I do mean 22q11 smile.
He was diagnosed when he was four, it was a relief to know what was wrong as he was tested for so many life limiting illnesses that this seemed a bit less scary.

Not bad here at the moment although winter & DS2 are not a good mix, though apart from scheduled surgery, he has avoided any hospital admissions smile.

Bluebirdonmyshoulder Tue 04-Jun-13 11:16:10

Just bumping this to see how everyone is doing. smile

Bluechick is nearly 1 and doing well in some ways and less well in others. We now receive DLA and carers allowance which helps.

I have mainly good days now but still get a fair sprinkling of days where I can't believe what has happened and want to rage at the world. When does this feeling go away?

BeeMom Tue 04-Jun-13 15:07:05

blue - I have to be honest with you... it doesn't. It will recede into the shadows, sometimes for a very long time, but with life events, or transitions, or just for the hell of it, it'll come flying back.

We are struggling with a few of the "harsh" reminders right now, I try to look beyond it and feel confident that we will come through - after all, we have before - but for the "now", it stinks.

Some time ago, I wrote a couple of blog posts around these ideas - dealing with the grief and reality , trying to wrap your head around change and optimism/pessimism and realism. I know this is a lot of reading (and don't expect you to read it) but I thought I would share the perspective of someone who has been doing this a little longer.

In the meantime, here's some wine. I am sure it is 5 o'clock somewhere...

cantbelieve Fri 07-Jun-13 18:12:00

Hi there, I haven't been on here for months and I pop in and here's this thread :-)

My little dude is now 18 months and we are right in the middle of statementing so he can start special school nursery next jan when he is 2. The reports are crap to read (profound and multiple learning difficulties- ouch) but Ive gone beyond letting it get to me, he is a healthy happy little dude and on his own journey and if its different to everyone else's we will deal with it, and anyone that can't deal with it can get stuffed to put it politely !!!!

Dont get me wrong we still have good and bad days, heck I do with my older 2 but we are getting there.

My biggest stress is work currently as they are being pigs not letting me take unpaid leave over school holidays and trying to find childcare for a son like mine just doesn't seem to exist so how the hell do we cope for 6 weeks every summer ????

Hope everyone and their little uns are doing well xxx

Bryzoan Sun 09-Jun-13 21:11:11

Hello - thought I would jump in and join you all if that is ok.

We received DD1s official diagnosis of Kabuki Syndrome this week - we were expecting it but it was still somehow a shock. She is doing really well but has up and down days... BeeMom I'm off to read your blog posts, even the titles resonate.

We're just starting statementing now too can'tbelieve - dd is 2.9. We're looking round schools at the moment. I am on maternity leave at the moment with our 6 month old ds (who seems very healthy) but have decided to leave work rather than go back - I just can't see any other way of keeping up with all dd's appointments!

BeeMom Sun 09-Jun-13 23:31:26

I have a friend in the US who has a son with Kabuki. I understand there is a very good support group online for families who are dealing with a KS diagnosis.

I hope some of my writing is helpful for you. I don't write on that blog a lot now - life kind of got in the way somehow. In fact - the most recent post is nearly a year old. I really should update it, but where to even begin?

The best (but quite cliche) advice I was ever given and pass on often, is remember that this journey is a marathon. If you approach it as a sprint, you'll exhaust yourself. You are in it for the long haul, and when you think you can't do it, give yourself permission to crack a bit, then get out the glue, mend the crack, and keep on going.

Bryzoan Mon 10-Jun-13 04:24:37

Thanks beemom. I have found a couple of great facebook grps. That is good advice too - I am rather inclined to face most things as a sprint so will remember that one.

hazeyjane Mon 10-Jun-13 11:30:31

Quickly popping in to say hello.

Good to read your post, can'tbelieve, I remember your posts earlier when you had just received a diagnosis, it is good to hear how your ds is getting on, and hear you sounding so positive.

We are going through a good phase with ds - after a bloody awful and prolonged bout of pneumonia and worries over oxygen levels. His chest problems are under investigation at John Radcliffe so hopefully we will get some answers there.

He has started preschool with a full time 1-1 (and me there too) and is getting on ok, albeit with teeny tiny steps. He has also just started with a GoTalk communication device, which he loves, hopefully it will be the start of him learning how to use a communication app as he gets older, as he has made no progress at all with verbal speech.

We are seeing his geneticist on Friday, it is a new one, so should be interesting, although we have had no word back from the Kleefstra syndrome study that he is part of.

Hope everyone has a good daysmile

hazeyjane Sun 30-Jun-13 14:14:02

Just giving this a bump.

We saw the geneticist, she was fantastic, really easy to talk to and seemed engaged and interested in ds.

She wants to test ds for a couple of other syndromes, alongside the Kleefstra study. She wants to look at the X chromosome, and syndromes to do with macrocephaly. She is also going to put him forward for the DDD study. Fortunately they can use samples they already have rather than taking any more blood.

Hope everyone is doing well.

Smurf1 Tue 03-Jun-14 12:27:33

This week is the first ever international Rare Chromosome Awareness Week 2-8 June.

We want to tell the world what rare chromosome disorders are, how they affect our families and how Unique can help.

Throughout the week we will be sharing messages by email, press, Facebook and twitter, through work places, schools and hospitals.

Lots of families are also sharing pictures of their children via Facebook, Twitter, Flickr etc. to celebrate Awareness Week.

The aim is for greater understanding and support for families affected by the many challenges rare chromosome disorders bring. We also want to create a better understanding of the great love and joy we feel for our children and adults with rare chromosome disorders and the strength we gain from other parents and families like ours.

If you would like to support the work of Unique in helping families through diagnosis, linking them to similar families, publishing our guides to individual chromosome disorders and raising awareness through events like this week, please consider making a donation. Please visit www.rarechromo.org/html/DonateNow.asp to donate online. You can donate in various currencies, including Pounds Sterling, US Dollars and Euros.

If you are in the UK, you can now also donate by text message direct from your mobile.
Just text UNIQ11 plus the amount you wish to donate up to a maximum of £10 to 70070. So, to donate £10 you need to type UNIQ11 £10 and text it to 70070. Remember to leave a space between UNIQ11 and £10.

Best wishes from all of us at Unique.

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