Re: Hi Kimberley and Lucy

[Guest guest]

Leah,

WE do have pictures posted in the Photos section of this site.

I cryed when I saw all the pictures the first time...so many faces

with the same eyes, the same feature, such cute little children!

They are in alpha order so you will find them in th M's.

It seems as though the available genetic testing is better in the UK

than the USA.

Keep in mind her developmental delays may be a totally different

problem that need special attention.

It's hard for us to separate the BPES from the Hypotonia - I

wonder " would she have been delayed no matter what "

and " what caused her low muscle tone " ?

We work hard to challenge her everyday and she is improving.

Sincerely

Kim Holmes USA

--- In blepharophimosis , " leara27 " <leara27@...>

wrote:

>

> Hi Kimberley and Lucy, Thanks for telling me about your families.

> It's lovely to speak to others who understand how you feel.

> I got a diagnosis soon after birth for Abbie. I was monitored

> through my pregnancy because Abbie was tiny and they did the

> genetics tests when she was born because they thought it might have

> been caused by a genetic problem. In the end they decided it was

> because I had bad pre-eclampsia but Abbie isn't catching up!

> Thanks for your information about Moorlands Lucy. I'm sorry

Holly's

> surgery had to be postponed. Abbies surgeon said they would leave

> the first operation until she was 3 or 4. Abbie has an appointment

> in August so I think I will check what experience her surgeon has

> but I'm going to ask to be referred to Moorlands. We live in

> Nottinghamshire but i don't mind how far if it's the best care.

> I've also decided to go back to her geneticist. I have a general

> paediatrician but I don't feel like anyone really is co-ordinating

> which specialists she should see. I suppose that's because BPES is

> rare so they are not used to managing it. Also, I'm so glad you

> told me about McKenzie, Kimberley - she sounds like a lovely baby!

> It's good to know that other parents whose kids have needs other

> than the eye symptoms of BPES are here too.

> Do you both have pictures of McKenzie and Holly on here? I'd love

to

> see them and I hope you'll keep posting how they are getting on.

> Thanks again for making me feel so welcome, Leah

>