I have a 48 yr old brother who was diagnosed with Fahrs Disease several years ago. He has gradually deteriorated and is now very unsteady on his feet and has poor articulation of speech. He is on no medication and only gets a 10 minute checkup once a year from a neurologist. We have been told there are only a handful of cases in the U.K and as a result our family feels very isolated and at a loss as to what the future holds.He lives with my elderly parents and is becoming increasingly depressed and isolated. Is there anyone out there with experience of the condition?Is there any research underway? Any help gratefully received.
Although its well known that its an autosomal dominant as well as a sporadic type of disease, BUt I always cast adoupt on a diagnosis of a rare disease like this esp if only one member of the faily is affected (keepin in mind that ~40-50% could be asymptomatic and I also know about the degree of penetrance of an autosomal disease could vary from one generation to another in a family)...but has other causes of calcification was ruled out by an endocrinologist? esp all the types of hypoparathyroidism?
Is the calcification is typical "Bilateral almost symmetric calcification involving striatum, pallidum with or without deposits in dentate nucleus, thalamus and white matter"?
If you want to find out about any research about Fahr's please try contacting
1-National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
Bethesda MD 20892-2540
Phone #: 301-496-5751
800 #: 800-352-9424
Home page: http://www.ninds.nih.gov/
2-Parkinson's Disease - Movement Disorders Group
New York NY 10032
Phone #: 212-305-5779
800 #: --
My husband has been diagnosed with Fahr's by a highly regarded specialist. We went hrough a year of hell trying to get a diagnosis from a neurologist who never would/could.here are ery specific things from the symptoms to the CT/MRI/PET pictures of calcification in the basal ganglia and cerebral cortex of the brain. I have not been able to find any support groups yet. Just know that you are not alone. It is far better to know than not. My husband was tested for every feasible variability beyond any shadow of a doubt. The syndrome is rare, and there are no positives on how to control rather than treat symptoms if necessary. My only advice is to be sure and eat a balanced diet, excercise, read, etc. Have found husband is very sensitive to metabolic changes therefore am hypervigilent about quality of food/drink intake. You are welcome to write me if you like at ***@**** )pls just note desease name in topic so I don't delete as spam.
So sorry I haven't written earlier. Been bogged down trying to get disablity benefits for husband, which has been like banging my head against a wall. But finally with help of contingency-based lawyer, the long debacle is over.
Ironically we lived near you in SF until late 2005. Moved up to Oregon to be near husband's family. Knew something was wrong but hadn't a clue what/why & where to seek help...etc.
My husband is 60 now. We started going to a Neurologist in 2007...and the issue was really beyond this MD's knowledge. Finally found a specialist in 2008 who put together the CATs, MRIs, & PET, plus neurophychological exam/symptoms, and had no doubt it was Fahrs.
It has slowly developed over at least 10 years or more, like you. He also has considerable problem with pronunciation/enunciation in the morning, but it gets better as the day progresses. He is unable to work, and has been for many years because of the accumulation of symptoms. Complex thought proceses are a issue, but probably like you he is very bright and sometimes his memory and insights are so sharp, it is hard to understand the illness. One thing our doctor showed us via the PET scan is that because the calcification in the basal ganglia & cerebral cortex was so intense, his brain has been making connections other ways in an attempt for the various neurons and receptors to function. he is missing the main manager and the brain/s oter active areas are working doubly hard.
You are right, there is nothing one can do that I know of. This is such a new thing. It is possible in anoher 2 generations, it may be as commonly identified as Alzeimers..who knows.
For us, it was important to keep brain tempeature normal...like don't take elongated hot tubs, or get assistance if at all possible if you have a fever. No one bothered to tell us that this was an issue until it was too late, and we went through a couple very trying times. My husband's abiity to problem-solve /think clearly is deeply affected by elevation of brain temp.
You also said you were not having metabolic sensitivity which is great....we found when Dave's food wasn't healthily balanced or he had much alcohol, it would throw off his bloodwork, He doesn't have thyroid problems, but now tends towards low blood preassure like you (strange since he had a personal and family history of high blood preassure although not overweight).
Have left you a voicemessage with my phone number and email address. Please feel free to contact me if you want to talk. It is hard for my husband to talk about, but he'll be happy to connect me to you. I told him I was writing you. (I think you are much more cognizant of the impact this syndrome/disease has had on your life, and want to understand....he often just wants to pretend its not there and I don't blame him)
My husband was finally diagnosed with Fahr's. After the possibility was given to us in 2008, it took until now to get confirmation from a neurologist. He was diagnosed with hypoparathyroidism in 2003 when he just collapsed one day while working three jobs and helping his mother trim trees. He got on disability right away and still is. It really bugged him that he could not work. He has always had poor articulation of speech due to mild cerebral palsy. But his father also had this condition, and was deceased by his 50's. My husband feared the same fate. Fahr's can create a conditon of hypoparathyroidism or low calcium levels in the blood stream. If it drops too much, it can affect the heart. My husband's heart has been checked because his was seriously low still. But, his heart is o.k. He has had multiple bone density scans. I guess this disease takes the calcium out of the bloodstream and puts it in the brain instead of the bone. His bone density scans say that he is twice as likely to fracture in his hips. He walks with a shuffled gate, and I have noticed some slight tremors. Classical identification also is the hands will look a little clubbed at the knuckles. His is. They also will have a mask like facial appearance. I just thought he looked serious all the time when I first met him.
One thing to really watch for is seizures. If there bone density is weak like his is, then a seizure can cause multiple fractures in the hips and shoulders, etc. Ask your neurologist to do a 48 hour home EEG. My husbands came up abnormal, but he has had a history of seizures before the disease. He has not had any since we have been married in 2008.
When there is a fever, do not leave a person with this disease alone. It took 3 days with clockwork of Tylenol as prescribed on the bottle to bring his fever down. With this disease, they are at greater risk I believe to having fever seizures. If you work, you may have to do like I did and stay with friends who can watch the individual until the fever breaks or find an adult day care center.
If you have medicare, you can have a nurse help at times, but then the individual cannot drive or work.
The neurologist told us that it showed abnormal because of brain irritation. He has severe moodswings. He does not want to go see a psychologist for testing. I asked his neurologist. He said it could be from brain irritation making him moody. Some of it is learned behavior as well.
I am constantly reminding him of things. I have him make lists. Also, you want to get the vision checked. My husband may have calcium deposit behinds his eyes. A person with this disease will often complain of it being dark and will prefer natural sunlight or want to have every light on in the room. Since the eyes are attached to the brain, calcium deposits can build up behind the eyes.
Try to keep the individual with the disease mobile or active. Find things that they can still do. This will help their self esteem as well as help the muscles not to atrophy sooner. They will complain of muscle aches, but they will feel productive. My husband still works at a major department store pushing carts. We are trying to move him inside as the heat is not good for this kind of disease. He often complains of a dry mouth and drinks excessively. He is not diabetic.
I have heard that some patients may be able to get a parathyroid shot. This would restore calcium balance. Also, my husband is taking Calcium plus vitamin D twice a day. His levels have come back to normal.
WARNING! My husband's doctor has been researching this case and tried to get the calcium to be absorbed into his bones. For many doctors this is the first or second case that they have had. Make sure you have a doctor interested enough in doing research and giving referrals. His doctor tried him on Fosamax for a while. It was doing his job, but too well. His calcium levels dropped seriously low.
We had to move to Dallas to do so.
Now lastly, I will say this. I do not know what your faith is. Ours is Christian. We strongly believe that by Jesus' stripes, my husband is healed. Shortly after we agreed in prayer, he was able to go back to work part time. He has had injury to bones that have healed without casting. He is not having seizures like before. His parathyroid level was in the normal range. His calcium deposits have not increased from 2008 to 2011. I encourage you to pray and trust in the blood of Jesus. Doctors may not know what to do, but God does. You can email me at ***@****.
Hello,I have been trying to find any and everything that I can about this disease. My father was diagnosed with disease about a year ago and he now lives me. I really just want some answers to the many questions that I have. I am so lost and never thought in a million years that I would be 32 years old having to care for my 55 year old father who I feel like has gone back to his childhood and it is hard. Please give any advice that you have about this disorder.Thanks
Hello my husband was diagnosed with fahrs about 3 years ago ., after lots of tests and scans For about ten years we could see something was not quite right with him ,he changed in front of us..We went to doctors and neuroligists thinking he might have parkinsons or maybe a nerve problem but all tests came backclear. He is the only person in Ireland, with this disease.Tumshie my husband had a lot of the symptoms you mentioned he was put on the parkinson!s drug Sinnemet and it helped a lot with his speech and walking maybe this would help you It is a dreadfull illness and it has an awfull effect on the whole family. As the disease progresses my husband can do less and less for himself.soon he will be in a wheelchair full time Now he has a carer to help get him up in morning and assist in wash and dress we are afraid to leave him aloneHe is 57 years of age
I have Fahrs Disease, along with a lot of my friends on facebook. I would love to communicate with others. In May of this year an article came out about finding the gene. I'll send the link after this. But the gene doctors found is called the "sodium dependent phosphate transporter." I will update and answer any questions I've found with anyone who wants. I'm not sure if this site here is for "Inspire", but if it isn't I can be reached at Inspire, here, or on facebook. My name is Darlena Berkman.
I to was told i had Fahrs at the age of 33 im on alot of medicines to which nothing helps i reached out to national diseases to see if they had any studies im depressed my life has been stopped and passing me by im a mother of two girls 17 year old soon to graduate and a 5 year old next month will turn 6 i have a fiance living with me will as of last night his only here for his daughter ya screwed up i have 160 hours of care and really my lifes a mess so i dont see the care i was told that i had no back bone , i cant take my daughter out side i cant even dress her my oldest will be leaving to university and i dont want to stop her i cant ruin her life i know i need her and i will be alone but i want answers i get so tired from 4 steps , my speech as if i was drunk , and my body is as if someone else is dancing in it. Im my own prisoner i wanted the same as any other i wanted a marriage, a house , and someone to love to me but with fahrs its complete nightmare i do feel his pain at times i love my girls but i just want it to end who am i if i cant even feed my self , shower my self . weird thing is i have identical sister and she has systoms of the diease . I cant pull my own weight like my fiance would have wanted he doesnt understand the pain in which im in the imparrasment im in when we go places and he doesnt understand why im tired , to him i do nothing and i suppose his right what i can do is my best but its not good enough thats for sure i dont think anybody with this diesase should have no cure its just not right if any body knows of any studies being done please do let me know please. Sharen
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