Anxious mum

[Guest guest]

>

> Dear all,

>

> I haven't posted for some time & would like to wish everyone a

happy

> new year.

> It is almost a year since my son Jack has CWD surgery on his right

ear.

> He has coped really well and never complains. I however feel

> cconstantly anxious and worried and probably drive him mad asking

if

> he is OK all the time. How do other mum's cope? I think I have

been

> worse just lately because Jack is due to go for a check up next

month

> and I am terrified it has come back. Will the open cavity allow

his

> doctor to see if there is any recurrance or will he need 2nd look

> surgery?

> Also does anyone know if CTOMA runs in families as Jack's aunt

> recently had one removed.

> Is there any new advice available re prevention of recurrence?

>

> Regards

>

> Pat

>

hi Pat, My name is Jenine and I have been fighting ctoma all my lif.

started when I was 8yrs old took top Melbourne specialist 6 yrs to

get rid of the disease' I know my case is the most severe I have

ever heard of and it may interest you to know that there is a

definite pattern to my case,as I have had the disease twce 9yrs

apart then twice 6 yrs apart and am just getting over it again. each

time I get it it lasts exactly 9 months and makes me very ill,I am

concerned that i will get it again in another 3 yrs. I have had 6

operations and have opted since for natural treatments. I obtained a

bio frequency spectrum machine which are available from china, it

assists in killing the tumor and then I use onion poltices to

dislogde the tumor. I have successfully removed 3 tumors myself

without surgery. they cannot operate anymore as I would end up with

facial paralasis and no balance. I would love to share my story with

others but I dont know where to start, I feel that it is an

incideous disease but I have learned to manage it and enjoy a

relatively normal life. i lost my hearing in the right ear at 8

years of age.and am now 44. husband and family have been very

supportive.I feel very much for poor little Jack, and hope this

information may be of some help to you.I take much comfort in the

Bibles promise that under Gods Kingdom no one will ever get sick

again. Revelaion 21:4, Kind regards, jenine.

[Guest guest]

Hi all,

I have read a few posts, some heartening, some less so - the latter

is no criticism to those posting. It is good for me to know a lot of

the possible experiences so I can prepare myself and so I know what

to look for down the track when I am doctor-hunting etc.

My 2nd daughter, Hannah, is 17 months old and has only recently been

diagnosed with BPES. I don't know how it goes for people in other

places, but Hannah's diagnosis was clinical. There is no genetic

testing available in Australia for BPES. We are looking into the

costs and practicalities of testing in the US or Europe.

The geneticist I saw didn't know much about the condition,

particularly about the POF - how it manifests, what can be done,

etc. I have gleaned a bit of information from hunting the web, and I

am still pestering doctors. The geneticist said the ophthalmologist

made the diagnosis 2 months ago, but the latter said he would refer

me to a geneticist for a diagnosis, so communication is a bit

lacking. Is this a common experience?

Why am I posting? I'm not sure. What can I expect for my little

girl? How good is the surgery these days? Is it still the case that

the eyes don't close after surgery? Can the child blink? How are

the eyes kept healthy if not? If people can remember the surgery

when they were little ones, were they not anaesthetised?

I've read that ovarian tissue and/or eggs can be harvested and stored

for girls suspected of having type I. Has anyone done this?

Thankyou for any info.

Regards, Bree.

[Guest guest]

Hi Bree

Hannah is a gorgeous little girl, her pics are really cute. My 4yr

old daughter, Kirsten, has recently had genetic results back from a

lab in Belgium which confirm that she has BPES. I had a good chat to

the geneticist here in Leeds, UK.

To be honest, the test didn't tell me anything I don't already know.

You are right that the diagnosis of BPES is a clinical one. My

advice is not to worry if you can't get genetic testing done, it

isn't going to change the management at all. Also, genetic testing

just confirms BPES, it doesn't confirm which type of BPES is present.

The geneticist I saw recommended that Kirsten sees an

endocrinologist when she is about 15yrs old to discuss premature

ovarian failure. She said that freezing eggs is still only used in

young woman who undergo chemotherapy and there is only a 2% chance

of a successful pregnancy with frozen eggs. According to her,

transplanting ovaries is still experimental. So not all rosy here in

the UK in 2007. But time is on our side as our kids are young and

medicine may have more to offer when our girls are teenagers.

I haven't done much searching on the internet as far as POF is

concerned, will do as Kirsten grows up. So all of what I mentioned

is from 1 geneticist.

As for the surgery, Kirst is having her final (2nd) lid lift using

fascia from her leg on 3rd April. I am very pleased with the results

so far. She can close her eyes and she does blink. So far she has no

fear of white or green coats. She was rather nervous at her first

dentist appointment last week though! Didn't help that her older

brother jokingly told her the pain won't be too bad! Her pics are

under Kirsten Parsons.

Regards

Parsons

Harrogate, UK

--- In blepharophimosis , " breehills " <breehills@...>

wrote:

>

> Hi all,

>

> I have read a few posts, some heartening, some less so - the

latter

> is no criticism to those posting. It is good for me to know a lot

of

> the possible experiences so I can prepare myself and so I know

what

> to look for down the track when I am doctor-hunting etc.

>

> My 2nd daughter, Hannah, is 17 months old and has only recently

been

> diagnosed with BPES. I don't know how it goes for people in other

> places, but Hannah's diagnosis was clinical. There is no genetic

> testing available in Australia for BPES. We are looking into the

> costs and practicalities of testing in the US or Europe.

>

> The geneticist I saw didn't know much about the condition,

> particularly about the POF - how it manifests, what can be done,

> etc. I have gleaned a bit of information from hunting the web,

and I

> am still pestering doctors. The geneticist said the

ophthalmologist

> made the diagnosis 2 months ago, but the latter said he would

refer

> me to a geneticist for a diagnosis, so communication is a bit

> lacking. Is this a common experience?

>

> Why am I posting? I'm not sure. What can I expect for my little

> girl? How good is the surgery these days? Is it still the case

that

> the eyes don't close after surgery? Can the child blink? How are

> the eyes kept healthy if not? If people can remember the surgery

> when they were little ones, were they not anaesthetised?

>

> I've read that ovarian tissue and/or eggs can be harvested and

stored

> for girls suspected of having type I. Has anyone done this?

>

> Thankyou for any info.

> Regards, Bree.

>

[Guest guest]

Hi, I just wanted to say that I am a 30 year old female with Type 1 BPES. I suffered through POF without ever knowing that it was my BPES that caused it. I am thankful to know that you guys know about it for the sake of your daughters. Even if your daughters do end up with POF at least you will know why. I only discovered that POF was due to my BPES about a year or so ago. Your daughters, if they do go on to develop POF, will still grieve the loss as I did but I would rather know then to find out like I did. It gives them much more time to come to terms with it. Not being able to become pregnant and have biological children is something that you have to eventually just accept to be able to move on with your life. I wish I my parents had known so that I could have been much more emotionally prepared. My husband and I got married and wanted to start a family right away. We tried for several years and nothing

ever happened. Every month there was a huge build up. We were sure this time that I would be pregnant and then of course the huge let down when we found out that I wasn't. Everyone around us kept on having babies. Every where I looked everyone had babies. It was a very hard thing. I know that lots of people are trying to find ways to save eggs and ovary tissue but I wanted to let everyone know that there is adoption. My husband and I were faced with moving on to IVF and other fertility options or going the adoption route. We thought about it and came to the conclusion that when it came down to it that it didn't really matter where our kids came from that we just wanted to be parents. Now I'm not saying that you can help, encourage or explore having bio-kids or a pregnancy for a daughter who has POF but I just want people to not think of adoption as a last resort. Also we did our research and found that our money

was best spent on an adoption. With fertility treatments you could spend tens of thousands of dollars and never end up with a baby (much like my aunt and uncle who spent about 100,000 and never got a baby with IVF) where as with adoption you can almost be guarentee that you will at some point get a baby. We spent about $35,000 on 4 adoption attempts and in the end we did adopt two little girls. The infertility program that we looked at was going to be at least $30,000 and that was for just one chance. Another thought is that if I knew that my child may not be able to or could not have biological children I would set up some sort of account to save money to help them out with the expenses of either adoption or fertility treatments. My daughter has Sickel Cell Trait which means that she could possibly pass the disease on to her children. We are saving money for her so that if she wants to adopt or undergo testing or fertility treatments we

can help her out with it. I hope her having children is a very, very , very long way off as she is only 2 years old. Anyways these are just my thoughts on my life with BPES and POF. YOu can check out my myspace account www.myspace,com/love2adopt or e-mail me at love2adopt@... if you have any questions for me. I do check back here now too. <parsonsfamily108@...> wrote: Hi BreeHannah is a gorgeous little girl, her pics are really cute. My 4yr old daughter, Kirsten, has recently had genetic results back from a lab in Belgium which confirm that she has BPES. I had a good chat to the geneticist here in Leeds, UK.To be honest, the test didn't tell me anything I don't already know. You are right that the diagnosis of BPES is a clinical one. My advice is not to worry if you can't get genetic testing done, it isn't going to change the management at all. Also, genetic testing just confirms BPES, it doesn't confirm which type of BPES is present.The geneticist I saw recommended that Kirsten sees an endocrinologist when she is about 15yrs old to discuss premature ovarian failure. She said that freezing eggs is still only used in young woman who undergo chemotherapy and there is only a 2% chance of a successful

pregnancy with frozen eggs. According to her, transplanting ovaries is still experimental. So not all rosy here in the UK in 2007. But time is on our side as our kids are young and medicine may have more to offer when our girls are teenagers. I haven't done much searching on the internet as far as POF is concerned, will do as Kirsten grows up. So all of what I mentioned is from 1 geneticist.As for the surgery, Kirst is having her final (2nd) lid lift using fascia from her leg on 3rd April. I am very pleased with the results so far. She can close her eyes and she does blink. So far she has no fear of white or green coats. She was rather nervous at her first dentist appointment last week though! Didn't help that her older brother jokingly told her the pain won't be too bad! Her pics are under Kirsten Parsons.Regards ParsonsHarrogate, UK>> Hi all,> > I have read a few posts, some heartening, some less so - the latter > is no criticism to those posting. It is good for me to know a lot of > the possible experiences so I can prepare myself and so I know what > to look for down the track when I am doctor-hunting etc.> > My 2nd daughter, Hannah, is 17 months old and has only recently been > diagnosed with BPES. I don't know how it goes for people in other > places, but Hannah's diagnosis was clinical. There is no genetic > testing available in Australia for BPES. We are looking into the > costs and practicalities of testing in the US or Europe.> > The geneticist I saw didn't know much about the condition, > particularly about the POF - how

it manifests, what can be done, > etc. I have gleaned a bit of information from hunting the web, and I > am still pestering doctors. The geneticist said the ophthalmologist > made the diagnosis 2 months ago, but the latter said he would refer > me to a geneticist for a diagnosis, so communication is a bit > lacking. Is this a common experience?> > Why am I posting? I'm not sure. What can I expect for my little > girl? How good is the surgery these days? Is it still the case that > the eyes don't close after surgery? Can the child blink? How are > the eyes kept healthy if not? If people can remember the surgery > when they were little ones, were they not anaesthetised?> > I've read that ovarian tissue and/or eggs can be harvested and stored > for girls suspected of having type I. Has anyone done this?> > Thankyou for any info.> Regards,

Bree.>

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