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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.

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


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.

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