I am putting together a GAN registry for the Sames Famiy. Will you please send me all of your contact info. name, numbers, email, home address, full name of GAN patient and birthdate, and mutation if it has been sequenced. Mirko's info. also
hi Madis
i have GAN too
and i´m from southern germany too
you look to someone i saw a long time ago mhhhhh
and you look like my brother, and the name is the same too - strange
now i know - you are my brother LOL
Mirko
Hi. My son Lottyn was diagnosed by a mutation analysis. His blood was sent to Dr. Kevin Flanigan and over 6 weeks was analyzed. It is very important that all GAN patients have this done. It is very important that we know the different mutations. There is a doctor in England and Dr. Flanigan that do it. Have you had a mutation analysis?
Hi. Welcome to the forum. Please tell us a little bit about how you were diagnosed, (symptoms alone, biopsy, blood test), at what age were you diagnosed?
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Profile Information
About Me
GAN Adult
About Me:
Hi to all!
My name is Matthias. I am 31 years old and i have GAN.
Do you want to know more about me eMail me
Do you have very curley/kinky hair?
Yes. At the moment I have short hairs.
What were your first symptoms?
worse Going.No more upstairs without helper.
What is your status currently?
Im a wheelchairdriver
Are you wheelchair bound?
Yes
If so, at what age?
Since 8 Years
At what age did you need a walker, full-time?
When I was 13 years old
Do you have upper body mobility?
Nothing anymore
Can you speak? Can you swallow, or do you need a feeding tube?
I can speak. Normaly swallow.
Can you control your urine and bowl movements?
In summer Yes in Winter when legs cold No
Have you ever had a seizure?
Yes
If so, at what age did they begin?
The last one when I was 8 years old.
Do you have loss of mental function?
No
Dementia?
NO
How was the diagnosis or GAN determined?
Have you had a nerve biopsy?
Yes on the left leg.
Has your blood or skin fibroblasts (taken from a skin biopsy) ever had DNA sequencing to analyze your mutation and actually confirm GAN diagnosis? (This is critical because another disease called Charcot Marie Tooth (CMT) also has "giant
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Magaen Bates (magaenbates@yahoo.com)
i have GAN too
and i´m from southern germany too
you look to someone i saw a long time ago mhhhhh
and you look like my brother, and the name is the same too - strange
now i know - you are my brother LOL
Mirko
good to hear from you your the oldest person i know with GAN.
hope your well and keep up the good effort.