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Old 1st Jul 2015, 09:06   #1
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Campomelic Dysplasia

Hi Guys

Bit of a strange one, our baby has just been diagnosed with the this condition. He isn't due until the end of October so a lot could still change (atleast I hope). Anyone here had to go through this? Anyone a survivor?
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Old 1st Jul 2015, 10:02   #2
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Not the news expectant parents want to hear! I hope rapid progress is made on the treatment front, for you.

My son has Muscular Dystrophy and we were talking to a couple in Southampton Hospital whose daughter suffered with CMD - they were sounding quite hopeful for progress in some Stem Cell research being carried out iirc. At least I think it was Stem Cell research. - it was a couple of years back.
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Old 1st Jul 2015, 10:12   #3
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That is really **** mate. Never heard of it until now and on reading up on it I wish I had not. Really feel for you and your missus mate.
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Old 1st Jul 2015, 11:10   #4
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It's a living nightmare, I'm struggling to get my head around it all but its my wife that has it the hardest. As soon as he is born he will need to go onto a ventilator as it's highly unlikely he will be able to breath.

We had a meeting with the consultant on monday and he made it quite clear that our baby stands very little to no chance of surviving. Last night our daughter who is 6 was telling me how excited she is to be having a baby brother and how she wants to get him a spider man suit.
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Old 1st Jul 2015, 11:54   #5
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Oh sheesh dude, that's just a big ol' bag of stinking sh*t.

Certainly done my share of hospitals with my girl but that's nothing compared to what the four of you are going through.

Your little guy could easily get a lucky break or two, so all you can do is hope for the best but prepare for the worst as best you can.

There's hope to be had, how tightly you grab hold of it is all up to you.

I follow the "It'll be hard, we'll hardly sleep, we'll cry for days but everything will work out okay as we'll do our best" approach. Knowing "I couldn't have done any more" is the best you can work with at times.

I research, I read, I talk to the docs but I trust my instincts and those of my gf first and foremost. We go with what feels right, having medical staff you can trust really helps with this.

Above all else, remember that no matter the hard times ahead (and the hard bits won't be a walk in the park) you'll be 'okay' and get through it. You've got no choice to be anything else but okay, but that too is okay as having to be okay is part of the contract of being a parent.

And with her ma and pa at her side your little girl is going to be okay too. She already loves her little bro, so no matter what, if she wants to get him some spiderman gear, then when the time is right help her get him some.

You already know this is a 1000 tonne unwanted freight train that's coming smashing through your live. One you didn't ask for and don't want. As I've said that sure is a big ol' bag of stinking sh*t.

For now, you research and you hope, but the best you can really do is bloody well learn to live with the train and live your life around it. It's a long train and it'll be around a while.

Good luck
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Old 1st Jul 2015, 12:44   #6
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Originally Posted by Guinevere View Post
Oh sheesh dude, that's just a big ol' bag of stinking sh*t.

Certainly done my share of hospitals with my girl but that's nothing compared to what the four of you are going through.

Your little guy could easily get a lucky break or two, so all you can do is hope for the best but prepare for the worst as best you can.

There's hope to be had, how tightly you grab hold of it is all up to you.

I follow the "It'll be hard, we'll hardly sleep, we'll cry for days but everything will work out okay as we'll do our best" approach. Knowing "I couldn't have done any more" is the best you can work with at times.

I research, I read, I talk to the docs but I trust my instincts and those of my gf first and foremost. We go with what feels right, having medical staff you can trust really helps with this.

Above all else, remember that no matter the hard times ahead (and the hard bits won't be a walk in the park) you'll be 'okay' and get through it. You've got no choice to be anything else but okay, but that too is okay as having to be okay is part of the contract of being a parent.

And with her ma and pa at her side your little girl is going to be okay too. She already loves her little bro, so no matter what, if she wants to get him some spiderman gear, then when the time is right help her get him some.

You already know this is a 1000 tonne unwanted freight train that's coming smashing through your live. One you didn't ask for and don't want. As I've said that sure is a big ol' bag of stinking sh*t.

For now, you research and you hope, but the best you can really do is bloody well learn to live with the train and live your life around it. It's a long train and it'll be around a while.

Good luck
^^^ What she says.

Just because it is likely to be a short life, does not mean it isn't going to be any less meaningful or important. Love him all that you can and whatever happens, it will be OK. Every journey counts.
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Old 1st Jul 2015, 15:29   #7
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We only had our Asher for a day short of two years, but we'd do it again in a heartbeat.
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Old 1st Jul 2015, 15:34   #8
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We only had our Asher for a day short of two years, but we'd do it again in a heartbeat.
Hey Kayin

I remember the post you put up after you lost your son and it brought me to tears. I'm not at that point yet but but I don't think we are going to get that much time with him. In a way that maybe a blessing as there won't be time for to build up a strong bond and a history of memories.

One thing that is clear to me is that I'm just a passenger in all this and have absolutely no control over anything.
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Old 1st Jul 2015, 16:36   #9
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Hey Kayin

I remember the post you put up after you lost your son and it brought me to tears. I'm not at that point yet but but I don't think we are going to get that much time with him. In a way that maybe a blessing as there won't be time for to build up a strong bond and a history of memories.

One thing that is clear to me is that I'm just a passenger in all this and have absolutely no control over anything.
Grasping for a positive spin on this, I'd say you have control over how you share your time with him. It's easy for me to say this, not being in your position, but do not let fear of inevitable loss temper your affection and bond. If memories are all that will remain, make them as memorable as possible.
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Old 11th Aug 2015, 12:39   #10
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We had another meeting today to discuss what we need to plan for in the future should our baby survive. It's a bizzare scenario but we would have to decide what gender to raise the child.

Anatomically our baby has female genitalia but genetically the baby is a boy with XY chromosomes. The testes have kind of formed inside but must be removed. The level of surgery involved to create male genitalia would be pretty complex and with out testes lots of hormone treatment would be required.

If we stick with a girl very little surgery would be needed. My head is spinning with this and I just don't know what to think. What do we do 16 years down the road and our child wishes we had chose differently? Some thoughts would be appreciated
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Old 12th Aug 2015, 08:31   #11
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I really don't think the the words 'What if' should have a place in your decision process at at the moment. You have to think what is best for the baby now not at some hypothetical time in the future. If I had to make this choice and thank god I am not, then going with a girl has to be the right way to go. Surgery is hard enough for us adults and we have some understanding of what is going on. This little baby has not and in all honesty I could not subject a baby to what you say will be a complex procedure if you decided to go the boy route.

Wish you all the best at what must be a really shi**y time.
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Old 12th Aug 2015, 09:08   #12
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Quote:
Originally Posted by Pookie View Post
We had another meeting today to discuss what we need to plan for in the future should our baby survive. It's a bizzare scenario but we would have to decide what gender to raise the child.

Anatomically our baby has female genitalia but genetically the baby is a boy with XY chromosomes. The testes have kind of formed inside but must be removed. The level of surgery involved to create male genitalia would be pretty complex and with out testes lots of hormone treatment would be required.

If we stick with a girl very little surgery would be needed. My head is spinning with this and I just don't know what to think. What do we do 16 years down the road and our child wishes we had chose differently? Some thoughts would be appreciated
Your baby having female genitals despite the XY chromosome is not unusual in this condition. Up to two-thirds of affected XY genotypic males display a range of disorders of sexual development and genital ambiguities, and some even develop as normal phenotypic females. Thus it is very likely that the baby's brain will also develop along the female path. Basically, your child will feel and experience herself as a girl. It will also physically develop as a girl (XY phenotypic females are indistinguishable from XX females), but from puberty oestrogen hormone treatment may be required to make up for the lack of ovaries.

Scientific evidence (and some tragic case histories) has shown that the gender of a person is not based purely on chromosomes or external genital appearance-- the brain has a gender too. Your child will feel what gender it is long before puberty kicks in, and considerations of hormone treatment and genital reconstruction becomes an issue.
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Old 12th Aug 2015, 15:33   #13
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Thanks Nexxo, girl it is then . On a more serious note it doesn't matter to me or make any difference. I just need october to hurry up so we can finally face this.
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Old 12th Aug 2015, 16:29   #14
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Basically, you have no control over this, but conversely that means you don't have to make any choices either.

If the child ended up feeling male after all (possible but unlikely), genital sexual realignment surgery could not happen until he was an adult in any case, because a constructed penis will of course not develop and grow with the rest of the body. At which point he'd make an informed decision for himself anyway.
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Old 12th Aug 2015, 16:50   #15
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Honestly, as someone who is intersex (XXY, klinefelter's) I would highly suggest you don't have any surgery done until she develops her gender identity and decides who she wants to be. There is actually a big push by intersex groups to ban genital surgery on intersex infants, so far only Malta have banned the practise.

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Old 6th Oct 2015, 19:40   #16
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Had a pretty stressful day today, we were booked in to go to derriford hospital so we could begin the inducing process. While the initial prechecks were all clear and it was looking like we were good to go, we were then hit with the news that there were no NICU cots available.

So now we just have to wait untill tomorow morning to see if we one becomes available. On the upside at least jelly bean is safe and sound for another night.
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Old 7th Oct 2015, 15:08   #17
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Pookie, all the best, however it turns out.
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Old 8th Oct 2015, 10:46   #18
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Well they called this morning and we are going in on monday!
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Old 8th Oct 2015, 10:47   #19
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Fingers crossed!
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Old 8th Oct 2015, 10:56   #20
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Hope all goes well.
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