Fahrs Disease

[paulapepper]

Originally Posted by a-mom

The National Organization for Rare Diseases has a good fact sheet about Fahr's Disease. Go to their website and search under Familial Idiopathic Basal Ganglia Calcification. My son has this disease and is being studied at NIH in the Rare and Undiagnosed Diseases program, so I'd encourage you to contact them, too.

Dear a mom,
You may not have to tell him for 50 years and then he will know himself.It is highly unlikely that he will have major symptoms until at least 40.In fact, I don't see how they can diagnose him this young. Paula (64) 510-526-4147

[a-mom]

Hi,

I hope it's OK to post this response (which I also posted on another thread) because it's a pretty exciting opportunity at NIH.

You can live anywhere and have your Fahr's studied at NIH. E-mail Rena Godfrey at godfreyra at mail.nih.gov (replace "at" with @) -- she's a physician's assistant working in the Rare and Undiagnosed Diseases program.

They are currently studying a group of about 14 patients and looking for more. Through them, I learned that there was a recent Chinese study that identified a gene for Fahr's, but none of the patients in the NIH group have the gene, so they are saying it's polygenic (more than one gene can cause it) in nature. Symptoms vary considerably by individual, so the (rather scary) information on the Internet may or may not be applicable to you.

Please do contact them. The more people they have, the more they (and we) will learn. Treatment is free.

A-mom

[paulapepper]

Originally Posted by Chas67

What is this besides it has something to do with the mind, I have been newly diagnosed.

Charles

It is calcium in the brain,primarily in the basal ganglia. Unfortunately, there are no treatments, except for symptomatic. You just have to accept it.

[paulapepper]

Originally Posted by paulapepper

Dear a mom,
You may not have to tell him for 50 years and then he will know himself.It is highly unlikely that he will have major symptoms until at least 40.In fact, I don't see how they can diagnose him this young. Paula (64) 510-526-4147

and my doc sent everything,too. You now contact From: Hipple, Cheryl (NIH/NHGRI) [E] <hipplec@mail.nih.gov>, not godfreyda.

[paulapepper]

Originally Posted by a-mom

Hi,

I hope it's OK to post this response (which I also posted on another thread) because it's a pretty exciting opportunity at NIH.

You can live anywhere and have your Fahr's studied at NIH. E-mail Rena Godfrey at godfreyra at mail.nih.gov (replace "at" with @) -- she's a physician's assistant working in the Rare and Undiagnosed Diseases program.

They are currently studying a group of about 14 patients and looking for more. Through them, I learned that there was a recent Chinese study that identified a gene for Fahr's, but none of the patients in the NIH group have the gene, so they are saying it's polygenic (more than one gene can cause it) in nature. Symptoms vary considerably by individual, so the (rather scary) information on the Internet may or may not be applicable to you.

Please do contact them. The more people they have, the more they (and we) will learn. Treatment is free.

A-mom

You now email Cheryl Hipple at NIH

[paulapepper]

Originally Posted by paulapepper

You now email Cheryl Hipple at NIH

You now contact From: Hipple, Cheryl (NIH/NHGRI) [E] <hipplec@mail.nih.gov>,

[paulapepper]

for a-mom to see

[paulapepper]

Originally Posted by a-mom

Hi,

I hope it's OK to post this response (which I also posted on another thread) because it's a pretty exciting opportunity at NIH.

You can live anywhere and have your Fahr's studied at NIH. E-mail Rena Godfrey at godfreyra at mail.nih.gov (replace "at" with @) -- she's a physician's assistant working in the Rare and Undiagnosed Diseases program.

They are currently studying a group of about 14 patients and looking for more. Through them, I learned that there was a recent Chinese study that identified a gene for Fahr's, but none of the patients in the NIH group have the gene, so they are saying it's polygenic (more than one gene can cause it) in nature. Symptoms vary considerably by individual, so the (rather scary) information on the Internet may or may not be applicable to you.

Please do contact them. The more people they have, the more they (and we) will learn. Treatment is free.

A-mom

and you can contact Cheryl Hipple You now contact From: Hipple, Cheryl (NIH/NHGRI) [E] <hipplec@mail.nih.gov>,

[paulapepper]

Originally Posted by a-mom

The National Organization for Rare Diseases has a good fact sheet about Fahr's Disease. Go to their website and search under Familial Idiopathic Basal Ganglia Calcification. My son has this disease and is being studied at NIH in the Rare and Undiagnosed Diseases program, so I'd encourage you to contact them, too.

How old is your son? I have sent in my discs and my neuro sent in the records. I was diagnosed in 08 but I have had speech issues for many yrs before that. That's why I got an mri in the 1st place. MY speech therapist was convinced that I had had a stroke. So, actually the radiologist diagnosed it. When I went back to the same neuro and the MRI, then she was able to diagnose it. But she couldn't w/out the MRI! Very interesting.
Paula