Hi! My name is Sue. This message might be a long one (sorry for that) but it's hard to let you know where I'm coming from without explaining every detail of this nightmare my mother and I are going thru.

My mother lives in Canada and I live in NH with my husband and three children.

My mother has not been well for about 10 yrs. She suffered a stroke in 1990 (she was lucky--no damage) but since then her health has deteriorated on a yearly basis. Her neurologist has preformed MRI's every year since that stroke. The results every year has been that she has "small strokes" or "silent strokes", I guess they are called "Transient Ischemic Attacks". He would tell her that small parts of the right side of her brain would die everytime she has a "small stroke". For years now, my information has come stricly from my mother via telephone.
My recollection from the past years hearing events from relative in Canada is "Your mother is not well, losing weight, falling, moving her fingers constantly, seeming spaced out. But I assume things were being handle from her physician and herself. Mom never indicated to me of these problems.

Here is the story: In May I received a phone call from my uncle in Canada telling me my mother was hospitalized. She has a mild case of pneumonia. My relatives felt it was necessary for me to come home to Canada to see her. They were extremely concerned. At this point I am confused but make the 11 hour trip to New-Brunswick. Upon arrival at the hospital I was shock, she weights only 85lbs. skinny as a rail...(I had not seen her in two years). I took her home to her apt. and starting making telephone calls to her doctors to see what had happened to my beautiful mother, why is she losing weight, seems out of it and moves her fingers and feet now. Well, if I say The Canada Medical System it should be enough for you to understand that I did not get very far. So I returned home and place a call to her Neurologist on June 10. I introduced myself and said I realize my mother is having "small strokes" is this what is causing her problems.

His answer to me is when my whole world turned up side down.

He says: I believe your mother may have Huntington Chorea (Disease). Of course, I am confused (not knowing what this disease was at that time) He procede to explain that because she has severe chorea movements indicates to him the possibility. I listen (in fear) as he explains how he could arrange genetic testing for her and myself in Nova-Scotia (I live in NH). My head is spinning at this point so I kindly thank him for his time and tell him I will get back to him.

I faxed him a letter full of questions regarding statistics of HD and why all these years he has not indicated to mom the possibility of HD. My mother has 5 siblings who are older than she is (mom is 58 yrs old). They are healthy...my grandparents lived until early nineties. What are the chance of my mother developing this gene on her own?

Well, her doctor would not discuss these questions with me on the telephone or without a genetic counselor but when I went to Canada in August he was on vacation ( I was aware of the bad timing but that's the only vaca. time I had).

I know this is a long story...but I guess what I am trying to understand is what has happened.

Maybe someone can help me understand...if she has received MRI's on her brain all these years...would they have not diagnosed HD???

I have spend countless hours on the internet, at the library learning about HD. I'll admit she has a lot of similar symptoms of HD. It scares me.

I realized that if mom has HD, that my chance are 50% of having the gene. I'll admit at times I look at myself in the mirror and try to convince myself that I look like my father.

I guess I don't even know where or what to do. I have not told my mother of her doctor thought about HD. Because I don't feel she would understand the genetic stuff and what good would it do for her to worry about me and my three kids.

Well I have taking enough of your time and re-read my message. I know it a lot of rambling but understand I'm confused. Any input or questions please feel free to write.

Thanks for reading...

Sincerely, Sue

Dear Sue,

I could have written your letter myself. My phone call came in 1995 with the same information. I would love to talk with you.

I did get tested after five years of not wanting too. You have to make that choice yourself. The first thing that comes to mind is that your mom should be tested to confirm if indeed she has HD (Huntington's). Perhaps I didn't catch it in your post and she was.

Those moments when you see something in yourself are very comon for those who find out they are at risk.

I would love to talk if you would like to email me at the enclosed address.

Julie (Jvabean)

I too could have written your letter. Mine would have been dated May 23, 1999. My mom had symptoms for about 10 years, but no one ever diagnosed it until I asked a simple question on Altavista: What causes involuntary movements? and found a site devoted to HD. The symptoms fit her to a T, and when she was tested a month later, it turned out she did have it. We had thought she had had a stroke, but tests for that had been negative.

You should definitely make sure your mom is tested, to make sure of the diagnosis, and to find out her CAG count. (The number of CAG repeats, usually over 39 for an HD positive result.) My mom's was 41, and she was in her late forty's when her symptoms first onset.

There are lots of supportive people in the HD community. We've been there, and know what you're going through. In fact, Julie from the above post reached out and held my hand through cyberspace when I though my world was falling apart.

As for seeing symptoms in yourself, yep--been there, done that. I had 'em all, it seemed, and also could see symptoms in my daughter--but I tested negative. That's not to say that you're never a good judge of what's going on--just a caution against going off the deep end of despair.

Hang in there, and email me too if you need a friend.

Kathy

Dear Julie and Kathy,

Thanks for the support, caring and info. I know from searching the internet that there is a lot of support groups. I still have so many questions that are unanswered. If I could ask a couple of questions maybe history could help me understand.

I wasn't sure if I should email you directly or reply to the original post. (I'm still learning message boards, internet, etc....).

My first questions:

My mother has 5 siblings (3 brothers, 2 sisters).

My grandfather (mom's father) died at the age of 88 of old age, my grandmother (mom's mother) died at the age of 92 of old age.

My great-parents also died at a very old age.


To me it doesn't make sense that no one else in her family has HD. What are the chance of my mother developing the gene on her own? As indicated in my original post, her her symptoms seems to fit HD but the family tree doesn't. Could she possibly have MS? I read some info. on the internet about MS and a lot of symptoms are seem to be like HD. Maybe information that you know could help me understand.

My second question is how is the HD gene tested?. She has NOT been tested. Her neurologist feels she might have HD (because of her chorea movements in her hands and feet). He discussed this possibility with me via telephone in May. Because of where she lives in New-Brunswick, Canada...she would have to go to another province (Nova-Scotia) to be tested he indicated to me. As I said in my post I live in New-Hampshire. It's hard to communicate with her doctor. He won't answer specific questions on the telephone. But wants me to decide.

What is the procedure for testing for HD? and is there a cost?

I sincerely appreciate your input in this matter.

Thanks for the friendship!!

Sue
.

Hi, Sue,
To answer you first question: In my mom's family, her mother was diagnosed with HD (though without a confirming blood test) around the age of 75. I suspect she has a "borderline" case, with a CAG count in the gray area between 35 and 39. She didn't develop chorea until her 70s. I'm pretty sure the gene mutated in my mom, since her CAG is 41 and her symptoms are more severe and started in her 40s. She has 3 siblings, none of whom show signs of HD. (Her youngest sister is only age 43, so there might still be time.) However, a mutation, which I believed occurred, would not likely happen with all of the siblings, so they might have inherited the same gray area gene my grandmother has. Make sense? If your mom's HD is the result of a mutated gene, then her parents might not have had symptoms, but carried a "high normal" gene. And consequently, none of her brothers or sisters would have the disease.

This is merely speculation, however, since your mother hasn't been tested and she may very well not have HD at all. This brings me to your second question.

HD is confirmed through a blood test. The blood can be drawn in any hospital laboratory, and sent to one of a dozen or so reputable facilities for testing. Her doctor should be able to order the tests without her going anywhere else to have blood drawn. I would insist that he do this, especially if he is tentatively making the diagnosis. Is this a neurologist? If so, he should be well aware of the ramifications to you and your family if she were positive.

I've also heard of chorea resulting from certain medications. You could ask the neurologist about this possibility, particularly if the tests come back negative.

Hope this helps. I know it's frustrating to communicate with doctors; it's the same way here. My mom lives 1000 miles away from me, and her neuro is 100 miles away from her. Because she has no insurance, she must go to the state hospital which is free, but lacking in terms of treating patients like humans instead of mere lab experiments. Good luck, and let us hear how it goes.
Kathy