Bethlem Myopathy / Ullrich Muscular Dystrophy

[Cath78]

Just looking for other people who have been diagnosed with this or whose children have been.

My daughter Chloe is almost 2 and was recently diagnosed with a collagen iv myopathy. There are two types of collagen iv myopathy's - Bethlem Myopathy / Ullrich Muscular Dystrophy. We still are not sure which one she has - even though most research suggest they are pretty much the same - Bethlem is just less severe.

Chloe cannot walk, sit from lying down, lift up her head while lying face down, bear weight on arms, can stand for short periods of time while leaning on something, cannot eat lumpy food etc etc etc!

Just after some people to talk to. I am coping better than the past but still find it hard to see other kids running around etc. Plus its genetic so other children we have have a very good chance of also having it (we are still finding out the exact odds). So I have pretty much resigned myself to the fact that she will be our only kid cause I can't go through it again and Chloe needs so much attention that its not fair to have another.

Anyway thats all I have to get off my chest for now

Cath

[HotI]

Hi Cath

I can't help you with experience of muscular dystrophy but there is a really supportive website where parents with children with neurological conditions write where you might find parents with similar conditions. if you google "braintalk child neurology", it is the first link.

Chloe is absolutely gorgeous, by the way.

take care,

Kate

[Phteven]

I hope you can find some other Mums to chat with.
Now that you have a diagnosis do you have a treatment or physical therapy?
She looks like a gorgeous happy girl in your little ticker pic.
Great name too

[MistyFying]

Hi Cath, I agree with the others, your princess has a gorgeous smile! I don't have any advice to offer, but I'm pleased you can use this area of BellyBelly to seek out support and get things off your chest where you need to

[peggy]

hey cath,
what a little cutie you have!
i dont know from personal experience about what you must have gone (and going) through, I do know that the people dealt the hardest hands are those who can deal with the situation they are dealt.
A very close friend of mine has muscular dystrophy, he is now 42 years old, and though confined to a wheelchair he has the most bubbly loving sense of humor of almost anyone i know!
I do know that in his family of 4 chidren his mother had, 3 were diagnosed with MD which is pretty high odds.
I can also say that his sister (the one not diagnosed with MD) has 2 healthy 'normal' children.
If you would like to know anymore about my friend PM me your email and i might be able to get him to email you as he is at hs computer often, im sure he'd love to have a chat.
I hope this is of some help!
kindest regards,

peg

[tan32]

Hi Cath,
just wanted to add my support, I am a carrier of deuchune Muscular distrophy, this condition only affects males, and they have a short life span, females carry the defective gene, I can remember at 18 having to go to hospital as part of a research program and was told i had a 1 in 4 chance of having a boy with md. My uncle had MD and sadly passed at 10 due to complications.

I have been very blessed with a happy healthy daughter and son.
Your daughter looks like a beautiful child.

Best wishes for future research on your daughters condition
Tan

[HotI]

Hi Cath

Have you seen a genetic counsellor yet? They should be able to provide you with a list of organisations/support groups for your condition. In Victoria, there is the Genetic Support Network of Victoria. They have a website www gnsv dot org dot au, and there are a list of support groups there too. The Muscular Dystrophy Association (MDA) might also be a good contact.

I have a rare medical condition, and know how useful it was for me when i found contact with others with similar stories.

Take care,

Kate

[Feathertop]

Hi Cath, good advice from Kate about the genetic support network.

I've treated people with MD, and I have to say I have found them to be some of the most interesting and mature people for their age regardless of their physical abilities. I can understand how hard it is for you to see other kids doing stuff, you would have envisioned your daughter doing those normal everyday things and would never have imagined she might not do them. Because her muscles don't work so well doesn't mean she can't be a high achiever or a success though. I sat on a steering committee for a project around disability with a girl who had a major brain injury at 16 after being beaten nearly to death by her boyfriend. Physically she can't do lots of things others of her age can - she uses an electric wheelchair, and she uses a device that she types into to speak for her. But she has been a great addition to the committee, and she has achieved so many things - recently she addressed the United Nations in New York about womens rights, how good is that for someone who is all of 19 or so???? She has personality galore and I sometimes forget she has a disability, she stands out from the crowd for her abilities so much.

Cath, I'm sure your daughter will stand out from the crowd too, and be an amazing person. Good luck to you all in this journey.

[Cath78]

Thanks everyone for your responses! i really appreciate it.

In answer to your questions we have started physical therapy. we actually have been having therapy since she was born so at least we were helping/treating her even though we didn't have an actual diagnosis. basically just treating her contractures (stiff arms and legs) and building up strength - plus she had a dislocated hip and had a hip spica cast and then a brace for 10 months.

we have being seeing a genetitist (sp?). we will see him again at the end of feb when we see the neuro again. hopefully we will find out the results of the genetic testing on the skin then...

and yes she is a gorgeous happy girl!!! she is very clever and constantly amazes us with her speaking etc. plus she is very friendly - she talks to every one at the shops!!!!

[Feathertop]

See, what did I tell you about being gorgeous, happy, friendly and clever???!!!!

[amejat]

Hi Cath and Chloe,

My name is alexandre. I am 30 years old and affected by a Bethlem myopathy. Moreover, I am a scientist working in the USA for the NIH on neuromuscular disorders.

I just wanted you to know that many progresses have been done to understand the mechanism of collagen myopathy (a mouse model has been generated in 2003, a first drug has been tested on mice in 2005) and positive results have justbeen published in scientific reviews indicating that at least two molecules could slow or even cure Bethlem / Ullrich myopathies.

So be confident !

Do not hesitate to contact me by mail to discuss about it:
personal email address: amejat@free.fr
professional email: mejata@mail.nih.gov

Wish you the best,

Alex

[amejat]

Cath,

I forgot to write that... I obtained a licence, master and PhD in Biology and my myopathy did not block me in my study. I obtained them in France and did not hesitate to leave for the US. So, be sure that Chloe's life can be almost normal ! Just maybe more mature and motivated than others

Take care

[Cath78]

Hi Alex

Thank-you so much for your reply!!

Sorry I haven't replied sooner but I haven't visited this section in a while (gave up a little)

It is so good to make contact with someone who knows something about this - let alone heard of it.

I would love to make contact with you to find out more - especially that research on drugs!

I have so many questions. My main question to all doctors is - will she walk? - no-one likes to answer. Our neurologist has just said "we have people that walk with this".

As for Chloe's mental health - i have no questions there! she is so clever - sometimes too clever!

Anyway have to run - Chloe needs a nappy change!! Hope to chat soon
Cath

[Pookie]

I have a son who was born December 2006 and has been diagnosed with Ullrich Congenital Muscular Dystrophy.
I am posting this note to say that you can contact me via telephone at any stage to discuss anything you want. I have been through the part of talking to others and have developed a relationship with another family in Sydney, Australia who has a son with the disease. I know how hard it was to make the initial phone call to a total stranger and open up about your problem so please feel free to contact me at any stage.
I live in Hobart, Tasmania, Australia and can be contacted on either 03 6249 9337 (home) or 0438 502 178 (mobile). Alternately you can contact me via email on my home email address mick_kylie@iprimus.com.au or my work email address michael.peters@hazellbros.com.au

Regards

[sleemiller]

Hi
My son is 10 & has Ullrich CMD. There is a group of us in the US & abroad whose children have UCMD/Bethlem's or adults who have it themselves. You aren't alone! We have a yahoogroup. Also, search CureCMD to find out more about what is happening w/ research, etc.
Susan

[wewillsurvive]

My son is 2 and was officially diagonosed with Bethlem Myopathy yesterday. I would love to talk to you!

Just looking for other people who have been diagnosed with this or whose children have been.

My daughter Chloe is almost 2 and was recently diagnosed with a collagen iv myopathy. There are two types of collagen iv myopathy's - Bethlem Myopathy / Ullrich Muscular Dystrophy. We still are not sure which one she has - even though most research suggest they are pretty much the same - Bethlem is just less severe.

Chloe cannot walk, sit from lying down, lift up her head while lying face down, bear weight on arms, can stand for short periods of time while leaning on something, cannot eat lumpy food etc etc etc!

Just after some people to talk to. I am coping better than the past but still find it hard to see other kids running around etc. Plus its genetic so other children we have have a very good chance of also having it (we are still finding out the exact odds). So I have pretty much resigned myself to the fact that she will be our only kid cause I can't go through it again and Chloe needs so much attention that its not fair to have another.

Anyway thats all I have to get off my chest for now

Cath

[Cath78]

hi wewillsurvive,

would love to 'chat'. my email address is cwaud@jtchs.woll.catholic.edu.au

hope to hear from you soon
cath

[sleemiller]

My son is 2 and was officially diagonosed with Bethlem Myopathy yesterday. I would love to talk to you!

Hi wewillsurvive,
please email me leemillers@comcast.net. We have a yahoogroup for Ullrich/Bethlem & there are other groups as well that will be of help. Looking forward to hearing from you.
Susan