Think this may be making her worry more?

[pentaxpz]

As you all know about me and my beautiful partner.....

I think some of the worrying is to do with this......

I suffer from a rare condition called CMT... for short but cant write its full name!

Well it slowly kills off the muscles in the body!
it makes you weaker over time.

I was diagnosed at 12 but had it from birth! rubbish doctors!

Well Im a member of a support group....

and with the type of CMT I have...

if we have a girl she WILL have it and her children will be worse than her!
if we have a boy he WILL NOT have it or his children!

I think this is making her worry more than usual....

Its got so bad in me that a few years ago I had to give up racing push bikes as my heart was under too much strain as it had shrunk!
yes your heart is a muscle too!

 

[Serendipity_]

Aww, well I hope everything goes well tomorrow.

 

[babyblonde]

Sorry to hear about your condition and I understand why that must be stressful.

When you have a hereditary disorder you can go for genetic counselling where a professional will talk you through the likelihood of passing the condition onto the child etc. It might be worth asking about once you are a little further on.

 

[rusks]

aww sorry guys i am sure that is adding to your anxiety i hope you will have some answers tomorrow and your minds will be put at rest xx

 

[puddytat]

Hey rusks where in cornwall are you?
Me and my partner are both from cornwall too

 

[pentaxpz]

Me, my mum and dad saw a counciller but they didnt know sod all about it...
my condition is affected by 1 in 10,000! unlucky me?

well my grandad had it, my mum carrys it and I have it!
we think one of my litlle brothers may have it too!

I was told at 13 that by the time I was 20 i'd be in a wheel chair!
So I got on a pushbike and rode everywhere until I got the car.

I am now 24 and NOT in a wheel chair!
I still use the bike but not as much as I should!

 

[babyblonde]

Good for you hun!

That's crap about the rubbish support you have received.

 

[rusks]

Hey rusks where in cornwall are you?
Me and my partner are both from cornwall too

we from fraddon. another westcountry lass and lad!!

 

[pentaxpz]

Good for you hun!

That's crap about the rubbish support you have received.

What rubbish support?
the doctors I saw had never seen CMT...

So I joined the support group.. they are great and even gave me a big booklet on what CMT is and about having kids and stuff.....

 

[puddytat]

Hey rusks where in cornwall are you?
Me and my partner are both from cornwall too

we from fraddon. another westcountry lass and lad!!

cool... i dont think thats far from us

 

[babyblonde]

That's what I mean - rubbish support as in they were no help!

Glad you have a good support group though. I have worked with lots of people with a variety of progressive disorders and they very often find the support groups much more helpful than the medical teams unfortunately.

 

[pentaxpz]

cool so whats your work babyblonde?

I'd guess school or care?

yes as my condition is so rare that few doctors know much about it....

 

[babyblonde]

I'm a speech and language therapist but I work with adults - a lot of the progressive conditions like Parkinsons, MND, Huntingdons, MS etc lead to problems with speech, swallowing or both so you end up seeing a lot of it.

 

[buddabun]

Pentax. Firstly, sorry to hear of your news and the worry it is causing you over this pregnancy. If I am right in thinking CMT is Charcot Marie Tooth Disease (I studied it briefly at university) and you have the X linked/sex linked recessive type? If so surely if you have a daughter she has a 50% chance of having the disease and a 50% chance of just being an asymptomatic carrier (as us women supress one X chromosome as they are so potent). Please forgive me if I am wrong, just trying to help a little.

Have you considered genetic counselling or a test on the baby to see what you're dealing with? I might help put your mind at rest or help prepare yourselves more...?

Best of luck to you both for a happy healthy pregnancy and I am hugely impressed by your determination to stay out of a wheelchair. You must be incredibly proud of yourself

 

[rusks]

Hey rusks where in cornwall are you?
Me and my partner are both from cornwall too

we from fraddon. another westcountry lass and lad!!

cool... i dont think thats far from us

practically the other end of the county but not too far!!

hope all goes well today to you both x

 

[pentaxpz]

Pentax. Firstly, sorry to hear of your news and the worry it is causing you over this pregnancy. If I am right in thinking CMT is Charcot Marie Tooth Disease (I studied it briefly at university) and you have the X linked/sex linked recessive type? If so surely if you have a daughter she has a 50% chance of having the disease and a 50% chance of just being an asymptomatic carrier (as us women supress one X chromosome as they are so potent). Please forgive me if I am wrong, just trying to help a little.

Have you considered genetic counselling or a test on the baby to see what you're dealing with? I might help put your mind at rest or help prepare yourselves more...?

Best of luck to you both for a happy healthy pregnancy and I am hugely impressed by your determination to stay out of a wheelchair. You must be incredibly proud of yourself

WOW bang on the head!
yes thats what I have and yes your right...
a boy will be fine, but a girl will have it and possibly suffer from it too!

I know very little about it to be honest...
But we have just found out that we have lost our second baby too...
we feel like curling up and doing nothing at the moment....

 

[puddytat]

Pentax. Firstly, sorry to hear of your news and the worry it is causing you over this pregnancy. If I am right in thinking CMT is Charcot Marie Tooth Disease (I studied it briefly at university) and you have the X linked/sex linked recessive type? If so surely if you have a daughter she has a 50% chance of having the disease and a 50% chance of just being an asymptomatic carrier (as us women supress one X chromosome as they are so potent). Please forgive me if I am wrong, just trying to help a little.

Have you considered genetic counselling or a test on the baby to see what you're dealing with? I might help put your mind at rest or help prepare yourselves more...?

Best of luck to you both for a happy healthy pregnancy and I am hugely impressed by your determination to stay out of a wheelchair. You must be incredibly proud of yourself

WOW bang on the head!
yes thats what I have and yes your right...
a boy will be fine, but a girl will have it and possibly suffer from it too!

I know very little about it to be honest...
But we have just found out that we have lost our second baby too...
we feel like curling up and doing nothing at the moment....

i feel like that too... i just feel like going to sleep and wished it didnt happen

 

[ShineyHappyPeople]

Pentax. Firstly, sorry to hear of your news and the worry it is causing you over this pregnancy. If I am right in thinking CMT is Charcot Marie Tooth Disease (I studied it briefly at university) and you have the X linked/sex linked recessive type? If so surely if you have a daughter she has a 50% chance of having the disease and a 50% chance of just being an asymptomatic carrier (as us women supress one X chromosome as they are so potent). Please forgive me if I am wrong, just trying to help a little.

Have you considered genetic counselling or a test on the baby to see what you're dealing with? I might help put your mind at rest or help prepare yourselves more...?

Best of luck to you both for a happy healthy pregnancy and I am hugely impressed by your determination to stay out of a wheelchair. You must be incredibly proud of yourself

WOW bang on the head!
yes thats what I have and yes your right...
a boy will be fine, but a girl will have it and possibly suffer from it too!

I know very little about it to be honest...
But we have just found out that we have lost our second baby too...
we feel like curling up and doing nothing at the moment....

i feel like that too... i just feel like going to sleep and wished it didnt happen

I'm so sorry again you guys. Please look after yourselves and give it some time to heal.

 

[M&Ms]

So sorry to hear this news

 

[buddabun]

oh no that's awful I'm so sorry for you both

Just curl up and go to sleep if that's how you feel

Thinking of you