Hi,
My mother began to show signs of some type of degenerative brain disorder around 1978. Several neurologists looked at her during the early 1980's and determined that she had HD. She was put in a nursing home in 1986, it was an awful thing to happen to anyone, and the case semmed to be closed. Until I got older. I was about 3-4 years old when she began to come down with this, and as I got older it was explained to me what happed to my mom. Now that I am older, I have been able to do some research on my own, and it doesn't sound like HD, but almost nobody in my family will talk about it, and can't find anyone to take a look at her. Yes, you heard me right. She began to have symptoms in 1978, and she is still alive in 2000. That was one of the first signs to me that it might be something else. From what I understand, the disease usually takes about 10-15 years to go through its course. It has now been 22 years. I also am the genealogist in the family, and that yields some interesting facts. You see, we have one generation in the family that all died from...something, we don't know what. The concensus for some time in my family was that it was HD after my mom was declared to have it. However, the family history goes against this idea. In my grandmother's generation, there were/are seven siblings. Five brothers and two sisters. At least four of the five brothers (maybe all of them) and my grandmother came down with this disease. Now from what I know of it, each child of a parent with HD has a 50% chance of inheriting the disease. However, out of the 23 cousins that my mother has (from the seven siblings in the aforementioned generation), she is the only one who has come down with the disease. That does not sound like 50% to me! I also thought it was odd that my mother developed this at the age of 37, and my grandmother, her mother, developed it at about the age of 83. That is no mis-print, the age of 83. I can discuss my mothers' spacific symptoms if you want, but I would like feedback on what I just told you. Thanks.
Josh

Hi Josh - welcome to HDAC!

They have a blood test now that will confirm whether or not she has HD. HD symptoms can run all over the map but I agree with you that if it IS HD, your family history seems to be at the extreme ends of the bell curves. The 10 to 15 years is an arbitrary number usually given from the point of diagnosis and is generally agreed to be an unreliable number when used in reference to an individual diagnosis.

My wife had indications of HD since childhood but since HD was unknown in her family until her father died 10 years ago she wasn't actually diagnosed with HD until seven years ago at around the age of 37.

Also remember, 50% is the average for overall HD community. A single family may be blessed by the children not inheriting it at all or hurt by every child inheriting it. Your family may very well be on the lucky side.

Those are my thoughts for what they're worth. I sure hope it's not HD.

Steve

We are working on getting her tested with the blood test right now. It keeps on slipping my dad's mind on getting it done. He has sort of gotten the run-around over at the UCLA Medical center. Nobody returns his calls. Anyway, we are hoping that we can get that done by the end of the year. A relative of mine who was a doctor (now retired) believes it is a form of Familial Alzheimer's disease. His father had it, and apparently folks at the University of Indiana Examined the brain after his father died, and because of that, they listed our family as being an HD family. That was several years ago, and years later, they re-opened the case, and reversed their conclusion. However, all of this was before the blood test was available. So who knows. I got in touch yesterday with the doctor who looked at my mom during the 1980's to see if I could get any of the records from them as well as talk to someone who has looked at my mom. He has not been back in touch with me, so the waiting continues...Also something I did not mention yesterday. With my family history, we see nothing like this until that one generation. In fact, the parents of that generation both lived until old age and did not died of anything odd or unusual. Both of them died at the ripe age of 74 of natural causes. In the generation before them, there is nothing as well. This sort of just popped up in my family. All very wierd.
Josh

Josh,
Your story sounds all too familiar. My mother was diagnosed 3 years ago. The first and only one in her family with symptoms.
I have tried to research her past only to find she is from a family
of long livers.Her father died in his seventies and mother in her ninties. Before her diagnosis she had seen many Drs. and
had tried to commit suicide. We had to kidnap her from a psyciatric ward and take her
a Well Known Hospital and BEG for help. The blood tests told us
Hd. Mom now lives in an Assisted Care Facility (Dad left- didnt
want to be bothered by HD anymore). Good Luck to you, I
too hope it isnt HD.
Lynne'

If HD does not skip generations, then how can we not see the kind of pattern you would expect to see in my family. How would it just spring up? It doesn't quite work like that, does it? Arrrrrrrr, I'm very frustrated.

While the gene mutation does not skip generations, the disease might. There are families in which late onset occurs. When members of the family die at earlier ages without being tested no one knows whether the next generation is at risk.

There are links on this site connected to the FAQ page which explain the significance of the CAG repeats. The HD gene contains an abnormal expansion of these DNA instructions. The normal gene has 29 or fewer CAG repeats. If someone gets the HD gene and has 40 or more repeats, they will eventually get the disease.

However, some people fall within an intermediate ranges of CAG repeats on the mutated gene, 36 - 39. In that range, some people will develop the disease and others won't but they can pass along a gene with a further expansion of repeats, to 40 or more, and their offspring will develop the disease in that case.

In the range of 30 - 35 repeats, the gene is unstable in transmission to the next generation. The person won't develop HD but could pass on an expanded number of CAG repeats so that offspring might get the disease.

In my husband's family, my mother in law is the only one of five siblings to be diagnosed with HD. Both of her parents died in old age of other causes. Since she has a CAG count of 40, we think that one of her parents had a mutated gene with repeats under 40 but that an expansion occurred with her. She did not develop the classic symptoms of HD until her late sixties although she had psychological problems much earlier.