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Familial Idiopathic Basal Ganglia Calcification

jschott
0 Recommendations

My father was just informed he has Fahr's disease. I began researching Fahr's disease and didn't find much--that's because it's really called Familial Idiopathic Basal Ganglia Calcification (FIBGC). Through my research I've concluded it is a very rare genetic disorder with no treatment and my siblings and I are at a 50% risk of being affected. I'm starting this discussion because I haven't found any communities devoted to this disorder. I think this would be a good way for me to start to figure out what to do next, for my Father, myself, and my family. Please, if anyone can share their thoughts and experiences I would be most grateful, Thank You.

Explore topics in this discussion:

Counseling Memory Depression Ataxia

9 replies

NORDGeneticCounselor

I am very sorry to hear about your father's diagnosis. A local genetic counselor may be able to provide assistance. If you need a referral please let me know what large city or cities are close to you and I will provide contact information.

NORD-RN

Dear jschott,

NORD has an up-to-date report on your father's disorder, written by a physician with great expertise in Fahr's disease (now known as familial idiopathic basal ganglia calcification). He has recently completed his postdoctoral training in the United States and has returned to his native Brazil.

We'll be happy to send you this report, along with the physician's email address in the event that you'd like to contact him for further information.

If you'd like to receive the report, please email me at rn@rarediseases.org. We will need your postal mailing address (held in strictest confidence), as we will mail it to you via postal mail.

I wish you all the best of luck and also wish to express how sorry I am to hear of this serious disorder that your father has developed.

Sincerely,
Stefanie Putkowski, RN
NORD

NORDGeneticCounselor

The following genetic counseling centers in Philadelphia see adult patients:

Albert Einstein Medical Center
Genetics Division
Philadelphia, PA
(215) 456-8722

Hospital of the University of Pennsylvania
Division of Medical Genetics
Philadelphia, PA
(215) 662-4740

The following genetic counseling centers in Baltimore see adult patients:

Harvey Institute for Human Genetics
Adult Genetics Section
Baltimore, MD
(443) 849-3131

Johns Hopkins Hospital
Genetics Clinic
Baltimore, MD
(410) 955-3071

University of Maryland
University of Maryland Clinical Genetics
Baltimore, MD
(410) 328-3335

kellyjoe

i would be willing to talk my husband was just diagnosed we have a 1 year old

kellyjoe

could we get a copy of the report on fahr's

NORD-RN

We will be happy to send you NORD's Fahr's report, but need your postal mailing address. We send these via postal mail. There is no charge. Please send me an e-mail at NORD-- rn@rarediseases.org (your contact information will be held in strictest confidence)

Stefanie Putkowski, RN
NORD

jschott

It seems your life path is that of caregiver. How's your husband doing? My father is OK, His motor skills are just a little slower, and his dicesion making skills are dull. I think he's in a depression over this also (he doesn't want to do anything but sit around and sleep). Search around this inspire site--I"ve gotten most of my info from here. There seems to be more people diagnosed with Fahr's than the research suggests. By the way we are from PA also.

kellyjoe

i was glad to here from you. we live in myerstown pa not too far from hershey my husband is doing alot of therapies the neuro doc thinks his problems arise from the chemical spill he had at work in sept. everything is so acute speech swallowing difficutty math problem solving cognitve decline balance off he told us he did not think all these symptoms was the fahrs but because he had the fahrs it allowed the chemical to go straight to his brain instead of just being in his respiratory system so becareful will any chemicals around your dad... everything has been such a whirlwind for me trying to keep up with everything and our daughter my husband cant work or drive and i only work every now and then as a school nurse sub i will be glad when workers comp kicks in we have to fight to get it they are claiming it was stoke like symptoms we have legal advice she has helped me alot we are also filing for ssi disabilty and ma it sounds terrible but i am sure i am not alone in all this i stay upbeat for everyone my husband laughs alot but he also cries sometimes 1st thing in the morning imagine going from being fine one day and working and having plans to buy a different home with your new wife and daughter and plans on getting the daughter a pony and my husband also enjoyed his motorclycle and then the next everything you planned on needs to change..yes well God only knows what might happen to any of us i pray for better days and recovery ...my husbands mri did show calcifications near his speech centers double whammy try to get over one serious thing to discover another..sorry if i sound a little down i needed to vent thanks for responding tell your father he is not alone other people care who dont even know him and God ultimatly cares for us all kellyjoe

pepper1

I, too, have Fahr's. I am 61 and have had ataxia of speech for 11 yrs. I have some balance issues, but so far no memory problems. 510-526-4147 in California

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