Frankie Butler
  • Female
  • Bexhill, East Suseex
  • United Kingdom
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Frankie Butler's Discussions

Is there any way of finding someone with the same deletion?

Started this discussion. Last reply by Frankie Butler Dec 30, 2013. 6 Replies

Wasn't sure where to post this question. My son has been newly diagnosed with Becker - in-frame deletion of exon 30 - and I can't find any info about that, or any way to further my understanding of…Continue

 

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Profile Information

About me:
I'm a single parent to Dash, 5, and his older sister Sophia, who is 8. I work from home as an art director and we live in Bexhill, East Sussex.
About my family:
As of today (4/12/2013) we are waiting on DNA testing results from GOSH. It's not easy, all this waiting.. we've had quite a journey thus far, first being sent to Kings College Liver Unit with high ALTs.. the professor there thought to test CK levels and they were found to be 1900. Large calves, tires out easily.. no other symptoms. Performed well in the physical, even won two races at sports day... baffling, frightening, tragic, horrible.

Update: it is now December 14th, 2013. On Monday, we've been called in to GOSH because they have Dash's results. Dash's Dad thought/hoped all of this had been caused by Lyme Disease (incredibly prevalent where we lived in New York) and he had raised this with the neuromuscular team. The only thing the nurse would say to me was "We have a definite result here. And it is not Lyme." But they didn't actually test for Lyme.
Name(s) of child(ren)/individual(s) with Duchenne:
Dash
Age(s) of child(ren)/individual(s) with Duchenne:
4-6
City:
Bexhill
State:
east sussex

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At 2:30pm on December 16, 2013, Daniel Ellis said…

Hello Frankie, Sorry for delay in responding. I had forgotten that I had signed up to this website as I haven' t  had any contact from anyone.... until now. My Son is now 6 and is diagnosed with Duchenne Muscular Dystrophy. Arthur was very young when he was diagnosed so its hard to remember what the doctors where telling us before he was diagnosed, all I can say that Arthur's symptoms presented quite differently from those of your sons so fingers crossed for you guys that its not DMD.

Horrible process to go through, Arthur's care is through The Evelina at St Thomas's London and again the way they handled the diagnosis and follow up treatment has been disappointing. How long do you have to wait to be seen?? I remember that when I got the call from the Dr. I insisted that he told me the diagnosis over the phone rather than waiting for the appointment in London- This gave us a chance to think of questions and compose ourselves.

I should add that Arthur is an extremely happy little boy, he is doing well at school and is coping well generally.

We are more than happy to chat further and might be able to give a little guidance on various systems etc...

All the best.

Dan and Alissa

At 8:30pm on December 3, 2013, Andrea Cleary said…

Oh, and one for yourself of course! Single mom's rock!

At 8:28pm on December 3, 2013, Andrea Cleary said…

Welcome Frankie,

Though I wish none of us had to deal with this, it is what it is. I hope the wait for the results is bearable, as somehow the waiting is worse than the knowing. Give Dash and Sophia an extra hug from us here in Canada :-)

 
 
 

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