Re: G.A.N.

[Guest guest]

Jackie,

Most people who are thought to have G.A.N. are seen by physicians and their

symptoms generally include a sensory-motor peripheral neuropathy, absent

reflexes, fallen foot arch, ataxic gait, and typically kinky curly hair. When

G.A.N. is suspected, a nerve biopsy is generally performed and shows giant

axons. After it is confirmed by nerve biopsy there is one doctor here in the

U.S. and a few in other countries that do a gene mutation analysis on the blood

to find the particular mutation.

Our neurologist at Hopkins thinks that my son Lottyn is the only child with

G.A.N. that was not diagnosed with a nerve biopsy. We avoided the nerve biopsy

only because we found the expert in G.A.N. first. We had been to doctors since

Lottyn was about 2 until he was diagnosed at the age of 8. We were told so many

things. After our FA test came back negative, I had had it. We had been tested

for everything under the sun and still no diagnosis. I found giant axonal

neuropathy on the internet and went to my neurologist and said I think this is

what my son has and they said no way. He doesn't have seizures and he is not

mentally retarded. She just blew me off. After all the tests for CMT, FA, MD,

cystic fibrosis, etc were negative she wanted to send me to a mitochondrial

specialist to perform a nerve biopsy on my son to rule out several things and

hopefully find out for sure what he had. I was not comfortable with them

performing the nerve biopsy when they did not know specifically what they were

looking for. I went home and read more on G.A.N. and several articles had the

names Flannigan and T.O. Crawford on them. I looked up T.O. Crawford first

and found that he worked at Hopkins. I got his email off of the website and

wrote him a very brief email and sent him a picture of my son. He called my

within 5 minutes and said bring your son to me, your hunch is most likely right,

I believe your son has G.A.N. Two weeks later we went to see him and he drew our

blood and sent it to Dr. Flannigan (the other name I kept seeing). 8 weeks

later, our diagnosis was confirmed. We had G.A.N. He is the only doctor in the

U.S. that does the gene mutation for G.A.N.

Magaen

[Guest guest]

Magaen,

Interesting. I just moved from Baltimore and was seen by Dr. Dan Drachman at

Hopkins for many many years. I did have a nerve biopsy done in 1986, but I will

have to look that up to see specifically what was written.

I have had 3 genetic tests and all came back negative for CMT, but that does not

necessaril1y mean anything. They did look

for SMA and that came back negative I have all of the symptoms, except my hair

is curly not kinky (although it is common when you are Jewish!)

How is this condition treated, or is there no general treatment? What is

prognosis? Maybe I should read up on my own to answer my

questions!

Since my family still lives in Baltimore, I may try to get an appt with him next

time I come in town.

Thanks

Jackie

5:18 PM

[Guest guest]

Jackie,

Not a lot is known about GAN because it is so rare. But, of the people we do

know most are in wheelchairs by their teens early twenties. They have vocal cord

paralysis and end up with tracheotomies to open up the airway. They have

problems with a weak voice and are hard to understand. They generally have

problems with the extremities so it hard for them to use their hands. It is hard

sometimes for GAN patients to eat enough to keep up their caloric intake, so

they need to have supplemental nutrition.

Dr. Crawford is actually a pediatric neurologist.

Magaen

[Guest guest]

Magaen,

OH, I am so sorry to hear that. Do they have a treatment program?

Jackie

[Guest guest]

Jackie,

There is no specific treatment for GAN as of right now. You just treat the

issues that come along with the disease. The first ever GAN organization was

created this year www.hannahshopefund.org

This organization is raising awareness and money to support research efforts.

Magaen