I read with interset regularly all the stories and concerns from other people.
Hd is relatively new to my family, we are only 5 months down the track of discovering that my mother has this disease, in fact that anyone in our family has this disease.
My mum was showing signs of something and as a last resort her doctor decided to test for Hd. Unfortunately it was positive.
My sisters (2) and i decided that we needed to be tested, all of us having children, it was of great concern to us.
Along with one of my sisters I got my results about a month ago. To our absolute dismay and shock we have discovered that our father was also a carrier of this disease. Dad passed away 19 years ago from heart disease, we presume his CAG was 35 since my mum was 41 and both these scores have turned up in both my sisters. That is correct, 2 of my sisters carry the gene in both chromosones.
I'm considered the lucky one I have a 35, while they carry a 35 and a 41.
Sometimes I feel lucky other times i feel so damned guilty i can hardly bare it.

What I want to know is, is there anyone else out there who carries this from both sides and how they handling it. What is the hope for people in this situation.
We are told that it doesn't mean an earlier onset or a greater degree of deterioration over a shorter period of time. Is this true, how can they know that, we seem like such a rare case.

If anyone has any information I would be truelly gratetful.
Thankyou to everyone who writes in, I feel better in some sense every time I come to this site.
Lesley

Lesley, I am so sorry to read about the bad genetic luck in your family. The hope for your family, however, is exactly the same as we all have in other HD families, that the there will be a treatment to delay onset and progression announced this year, followed quickly by other treatments and a cure or its equivalent.

People with two copies of the HD gene are rare in the United States and Europe but they are not rare in Venezuela. There have been extensive studies of Venezuelan HD families and that is how researchers learned conclusively that the course of the disease is no different with two copies of the HD gene than with one copy. More information about Venezuela can be found on the Hereditary Disease Foundation site: [www.hdfoundation.org]

HELP ME PLEASE!!

How can we help Ryan?

Marsha thanks so much for replying so promptly. What is the treatment that you speak of. You seem to be very much aware of what is happening in the medical field. We have been told to expect a treatment and hopefully cure down the track, but doctors here are saying in the next 10-20 years.
If you could give me some more information on what is expected to happen this year I would appreciate it. I know they have been doing tests on mice, and from one of your other replies, read that something with Q10 is expected. More detail would be great.
Thanks for your help.
Lesley

Marsha thanks so much for replying so promptly. What is the treatment that you speak of. You seem to be very much aware of what is happening in the medical field. We have been told to expect a treatment and hopefully cure down the track, but doctors here are saying in the next 10-20 years.
If you could give me some more information on what is expected to happen this year I would appreciate it. I know they have been doing tests on mice, and from one of your other replies, read that something with Q10 is expected. More detail would be great.
Thanks for your help.
Lesley

Hi, Lesley,
If you haven't already been to www.HDLighthouse.org, hop over there and read the latest HD research. Jerry, the lighthouse "keeper" is really diligent about posting updates on anything remotely related to HD. It was there the first news of EPA as a treatment was announced.

Several people have been buying EPA (in fish oil) and doing an informal study on the lighthouse site. Many are having amazing results. I've started my mom on it, and within ten days her husband reported some improvement.

Hopefully, the studies will be completed soon, and we'll have an effective treatment. Meanwhile, there is much you and your family cando to keep your neurons in good condition and hopefully delay onset. If you haven't read The Miracle Brain by Jean Carper, do read it. Though little mention is made of HD, there is a lot of evidence of neuroprotective supplements and such presented.

Good luck. It is unusual to have the HD gene from both sides. I got a 29 from my father, which is considered a "mutatable allele." It is conceivable that one of my kids could have a CAG count in the positive range, but not likely. (My mom was a 41 and 17. I got her 17, thankfully.) I think as time goes on, more genes mutate from "gray" to outright positive. I wonder if this is happening more frequently than in the past because of environmental factors? Something to consider.

Kathy