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Here are some suggested organisations that offer expert advice on SN.

Hi, can I join you. Feeling utterly stunned by recent diagnosis.

(29 Posts)
Bluebirdonmyshoulder Wed 31-Oct-12 15:57:09

Hello everyone. Just here for some handholding and support. We recently found out that DD aged 3 months has a chromosome disorder.

We had no inkling of anything being wrong during the pregnancy and this has hit us like I don't know what. We are really struggling if I'm honest.

Also it wasn't immediately apparent that anything was wrong after she was born, we got the diagnosis several weeks in.

Have some great friends and family who are all saying what they perceive to be the right things but this is so so hard.

zzzzz Wed 31-Oct-12 16:01:13

Welcome,and welcome to the world bluechick.

No wise words, but I'm guessing you get quite a lot of those anyway wink

Bluebirdonmyshoulder Wed 31-Oct-12 16:07:06

Thanks zzzz yes, lots of wise words well meant. But no-one really knows how we feel do they.

Does this get easier?

auntevil Wed 31-Oct-12 16:08:07

Hello bluebird and bluechick.
It doesn't matter when you get a diagnosis, it's hard to get a handle on.
Just remember that through good times and bad times she will always be your beautiful DD. Your love is her constant.
Oh, and remember to stock up on salt, because you'll be needing to take large pinches of it at more than half of the advice you will have foisted given to you grin

starfishmummy Wed 31-Oct-12 16:57:27

Hi bluebird and welcome.
Just dive in here, no need to stand on ceremony. We can be here to listen with hugs and honks at the ready.

Sleepstarved Wed 31-Oct-12 17:56:46

My DD was diagnosed with a chromosome disorder a little while ago, she is now 20months.
I guessed about 5 months something was wrong but there was lots of 'waiting to see' from professionals.
It is so so hard and I have cried a lot but DD's condition is not that bad considering and she is wonderful, just taking life at her own pace.
I don't know what else to say other than, it will get better, your baby is still the dearest thing to you ever and this is just a part of what makes her who she is.
Get any support she might need in place early and post on here, they have helped me enormously.

Bluebirdonmyshoulder Wed 31-Oct-12 18:10:28

Sleepstarved it's funny, she was in SCBU for a couple of weeks as was 8 weeks premature so surrounded by professionals. However there was nothing obviously wrong. It wasn't until they found a heart murmur and resulting heart issue that we were recommended to have genetic testing.

It hit us like a lorry, we were so unprepared. We don't know what's going to happen, physically she's not bad at all, it's the development we're mainly concerned about.

It was made worse by the fact I had PND (only mild) and was just getting over that when we had the diagnosis so I feel I haven't fully bonded with her yet.

Sorry for your DD and thanks for your support. Thank you to everyone else too.

Bluebirdonmyshoulder Wed 31-Oct-12 18:17:13

Sleepstarved do you know anything about the charity Unique? It's been recommended to us but other than look at their website I'm not sure I want to get involved yet.

SallyBear Wed 31-Oct-12 18:55:28

Hi Bluebird. Welcome to SN board. My DD has a craniofacial syndrome and I remember being given the leaflets when she was born, but it took me a long time before I was ready to talk about the impact of her condition or reach out to Treacher Collins support groups. The fact that you've contacted us here for hand holding, hugs and honking will make a difference.

Most disorders share a few similarities with each other in the respect that there may be reflux issues, breathing issues, developmental delay or hearing issues to name a few. Lots of things that some of us on here will hopefully be able to support you with, be a sounding board or just an outlet for you to vent.

I had undx PND with DD and her twin DS. They were 5 weeks prem and she was 5 mos in SCBU. It took me a long time to bond with her as there was such a lot to take in, and SCBU is an artificial existence in so many ways. Anyway. We are here for you. smile

used2bthin Wed 31-Oct-12 19:58:59

Hi and welcome to the board! My DD who is six was diagnosed with a genetic disorder at ten days old, it was shocking and sort of sank in gradually. I also think I had PND looking back, and was worried about being alone with dd to start with as she'd been at risk of being so ill.

I remember posting on here about some of the well meaning comments(some family members seemed to not want me to say anything negative at all about it all). IME it helped to talk to others in the same boat and it definately did get better.

messmonster Wed 31-Oct-12 20:05:10

Hi Bluebird and welcome to the board. I'm really sorry that you've had this news, I understand how you may be feeling. My DD was diagnosed with a rare chromosome disorder at 2 weeks old, with the actual disorder ie the affected chromosome confirmed about 5 weeks later.

I can only speak from my own experience but post-diagnosis I felt utter grief that the child I was expecting to have was not the child who had arrived in the world. I had no idea how many unspoken, subconscious hopes and dreams I had for my unborn DD until she arrived, was diagnosed and I realised that many of them were just never going to happen. As I write that, it sounds so horrendously negative but that is honestly how I felt at the time.

I too was on the receiving end of lots of well-meaning platitudes from people who meant well but who really had no idea what we were feeling. My sister did the whole "special children are given to special people" speech which didn't help smile

With regard to Unique, I would highly recommend them when you feel ready to make contact. I totally understand your reluctance - I wasn't ready for about a year or more to make contact with anyone else with an affected child but, I have to say that right from the start - literally 3/4 weeks in Unique was the single most important source of information for us.

If you know the nature of the chromosome disorder Unique produce leaflets that give you lots of information about others who have the same or similar condition. You need to be ready to have that glimpse into the future and to see what might be ahead. I say might because my DD has a very rare disorder with only one other UK child having the same thing on the Unique database - when we met the other child, the outcomes for the 2 children had been fairly different even though the condition was the same.

Feel free to PM me any time if you'd like to ask me anything (or post it here) smile

Wishing you all the very best and sending you a supportive virtual hug - it's truly shit where you are right now but it does get easier I promise - I never believed it could but it really really does.

lisad123 Wed 31-Oct-12 20:07:11

Hello and welcome to the board. Hope you find all the support and hand holding (as well as wine passing) you could need x

hazeyjane Wed 31-Oct-12 20:21:25

Hello BlueBird (I love your name).

My ds is 2.4, he has been tested for a variety of genetic conditions, and although they have all come back negative, he is about to be included in a study for a particular condition of which he has a lot of the features. His paediatrician says to treat this as a working diagnosis. This has all happened in the last few weeks, and whilst we have been aware of his issues since he was a baby, it still all feels shocking an overwhelming to us.

It is very hard going to baby groups and seeing other babies, especially at the beginning. I second whoever said about trying to find a sn group. The people I have met on this board and my one rl friend who has a ds very similar to mine, have saved my sanity. Do you have any other children? I have found it very hard with my friends who are the parents of my older dcs, as we all had our 2nd/3rd children around the same time, and yet we have been on such a very different journey to them!

The world of sn, and accessing the support and therapy for your child is a huge learning curve, and places like Unique and the mn sn boards are wonderful places for advice and support. I found printing off the leaflet from Unique about ds's condition helpful to give to our gp and therapists (none of whom had heard of it). There is also a facebook page, and it is useful to see how other families cope, and what issues their dcs face (although it is often a wide spectrum), is there something similar for your dds condition.

Anyway I hope she and you are doing well, the first 3 months are hard enough anyway! Take care of yourself.

Firsttimer7259 Wed 31-Oct-12 20:49:18

Hi Bluebird, welcome here and sorry you must feel like you've been hit by a truck. Theres a huge amount of info and support out here, but it can be overwhelming too. Trust that you will work it out in time becuase somehow you just do, but it is a lot to take in. And it hurts like hell some days.
Reading threads, blogs, joining SN groups helped me, time helps too. Sorry you are going through this. Take care of yourself and give your little girl a big kiss.

saintlyjimjams Wed 31-Oct-12 23:11:27

I can understand your reluctance at getting in touch with Unique, but in the early days post dx I found meeting other parents going through the same thing at the same really invaluable. Some of those people from that time are now my best friends - they 'get it' in a way others can't really.

Bluebirdonmyshoulder Thu 01-Nov-12 12:08:56

Thank you all, I'm glad I posted.

I have also had the "Ah, she's just even more special now" comments from a few people and one family member said "It doesn't matter, she'll still be loved". Trouble is it DOES matter and I don't want a special child, I want a bog standard one with normal chromosomes. (I hope that doesn't offend anyone, hopefully you know what I mean).

Some of our close friends have been brilliant and we've been able to say exactly what we feel and they've not tried to make light of a shit situation.

We're in a better place now than we were when we first got the diagnosis. I really questioned whether I even wanted her. Possibly that was a bit of the PND too. But she is lovely and we do love her - we just absolutely hate her condition. It took me a while to make that distinction.

messmonster I may PM you at some point, thanks for the offer. DD's condition isn't quite as rare as your DD's but not a million miles off. You just think 'why??' all the time don't you.

I can only speak from my own experience but post-diagnosis I felt utter grief that the child I was expecting to have was not the child who had arrived in the world. I had no idea how many unspoken, subconscious hopes and dreams I had for my unborn DD until she arrived, was diagnosed and I realised that many of them were just never going to happen. As I write that, it sounds so horrendously negative but that is honestly how I felt at the time.

That is EXACTLY how I feel. Thank you for your honesty, it really helps.

Anyway, thank you all of you and here's hoping I can laugh again one day.

StillinMyPJs Thu 01-Nov-12 12:11:49

Hi there. It is so very hard to receive a diagnosis when your baby is so young and for me it took a lot of the new baby shine off life for a while. After 4 months I am still struggling.

Things do get easier as time goes on although I do find it hard to relate to other new parents as they are wrapped up in a world where their major worries seem so small in comparison to mine. This is where chatting to other people in the same position really helps.

All I can advise is to take every day as it comes and try not to spend too much time worrying about the future (easier said than done).

At least with a very early diagnosis, bluechick will have the best possible chance with early intervention if it is needed.

Bluebirdonmyshoulder Thu 01-Nov-12 12:15:59

Am loving her name bluechick by the way!

cestlavielife Thu 01-Nov-12 12:54:34

contact unique they very helpful
and plug into local support groups for babies and under fives .
ask hv or you might be referred to specialist hv

hazeyjane Thu 01-Nov-12 13:00:46

Bluebird, have you started a thread about your dd's condition on mn sn? Maybe someone here has a dc with the same condition?

spiritsam Thu 01-Nov-12 14:42:29

Hi Bluebird my DD of 4 and half years has a genetic disorder among a list of other things . Just wanred you to know your not alone x

ethel1 Thu 01-Nov-12 21:18:59

Hi Bluebird just take each day at a time just because you have a special child it does not mean life has to stop. you just do things differently and they take a bit longer. (well prehaps quite a bit longer) But we certainly don't have a dull life. In fact its a lot more exciting then we would like sometimes.
My dd is 19 with funny chromo's and we haven't had a diagnosis ,we've been told she is one in a million by our geneticist and its great .

Bluebirdonmyshoulder Fri 02-Nov-12 10:11:08

hazey no I haven't, don't want to say what it is as it would probably out me. Is there a chromosome disorder thread?

ethel1 not that it's a competition but bluechick is even rarer than that! May I ask how your DD is doing now that she's an adult? Is she able to live independently? Our big fear is that bluechick will need lifelong care and what happens to her after we're gone.

hazeyjane Fri 02-Nov-12 10:40:49

That is fair enough, Bluebird. When ds was being tested for Kleefstra syndrome, I googled mumsnet and Kleefstra, and found 2 people on mumsnet whose dcs had Kleefstra, and pm'd them. They were lovely and emailed me back about their dcs, it helped to hear about older children with the syndrome. As far as i know there isn't a chromosomal disorder section.

I try and put worries about the future in a cobwebby corner of my brain, and deal with what is upcoming, thinking about anything further ahead just stops me in my tracks.

Sleepstarved Fri 02-Nov-12 12:51:20

Sorry not to have been back sooner.
I have to say I didn't find Unique that helpful. DH and I found it scary.
DD's problem is rare, nothing on Unique matches her and we found looking at disorders that affected the same chromosome, but not her exact problem, was just too haphazard.
The spectrum of problems was so wide and DD is hopefully nowhere near as bad as most of them, so it gave us a massive list of things that may or may not affect her without actually giving us any extra information.
Try not to think too much about the future, what life will be like for her as an adult ect, she will change so much in the next few months.
None of the doctors, Unique or anyone else can predict what will happen and how your DD will develop, you just have to let her do it, and she will surprise you in so many ways.
It is hard when all the normal babies around you are hitting their milestones so effortlessly and you and DD are struggling with the basics but she will progress and those little moments are all the more precious for it.
Everyone on the SN board has been there and understands that and I found that more helpful than loads of slightly mismatched information about the chromosome itself.
Our physio said 'it doesn't matter what the diagnosis is, you treat what you see in front of you' and that is so right.
There are plenty of children who will have struggled with gross motor skills, or speaking, social skills, or all of these and people on here will have experience of that, even if their DCs have different diagnoses.

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