My girlfriend was diagnosed this past week with HD. She has been showing signs of it ever since I met her 1 year ago. The surprising thing is that we didn't even think she was going to be tested for a few months from now. It was actually her first meeting with the neuro, and they asked her if she wanted to find out that day if she had it or not. No blood was drawn, and the diagnosis was given based on her symptoms alone. Is this normal? I thought that blood had to be drawn to determine the cag count, which ultimately gives the diagnosis. It has been a very hard week for us, and she is very scared of getting worse. I was hoping to get into the ACR16 trial, but apparently it filled the last few spots a few days before her diagnosis. I have a few questions that I will just list here. Thank you in advance for any feedback. This site seems like a very supportive and helpful.

1) I can't seem to get a clear understanding of whether or not creatine actually slows progression or not. Can someone give me their own personal experience with taking this?

2) If the trials are successful for ACR16 (Huntexil), what is a realistic timeline for FDA approval and the release of the drug?

3) Is there any possible way to get on a waiting list for the ACR16 trial in case someone drops out?

4) I hate that every site that explains the disease says the person will usually die 15-20 years after the onset of symptoms. Can it be argued, that with proper supplements and exercise, along with all the new knowledge of the disease, that this timeline is actually longer.

5) Are there any cases of someone actually beating this disease, to where it doesn't progress, or progresses slowly enough for them to live a long life after the onset.

Thank you very much.

dd

dd,

I've been taking creatine since I tested positive in 2003 (CAG = 40). There is a Phase 3 clinical trial going on now which should give a definitive answer. See [www.huntington-study-group.org]

Many people have reported improvement with creatine. The dose that seems to work is 20 grams per day - 10 in the morning and 10 in the evening. I'm still symptom free at age 63, so supplements and exercise are working for me. I've been a distance runner all my adult life and I'm sure that has something to do with it.

There is a poster named bobnetex who has only very minor symptoms at age 73, I believe. His CAG count is the same as mine.

She should get the gene test done to find out her CAG and to rule HD in, or possibly out. There are other conditions that can mimic HD symptoms.

Will

There is no timeline of Huntexil being approved. Or even if it will be approved. It does remain a promising treatment for symptom relief, but we don't know if it will hold back progression yet.

The reason it is explained that people who are diagnosed within 15-20 years succumb, is because that is generally true. No one has beaten HD.

Supplements are unproven, although there are anecdotal reports like Will, there is no completed trials to back it up. Not saying Will is right or wrong. Creatine is in trials right now so we will see. Other supplements will probably never be tested. I would still be proactive with them. It's just no promises can be attached to them right now.

Sorry to be so so blunt but those are sort of the facts right now, and why we have a support forum and orgs looking for treatments. If we were beating HD we would have a lot less issue with and about HD.

My husband was also diagnosed with only a neurological exam. I think it is common if the person is already symptomatic. We are sure he has it but may do the blood test at some point down the road to find out his CAG #. We also wanted to get into the ACR16 study but took the recommendation of a psychiatrist to put him on a med which was on the exclusion list of the study. I am far from an expert (like many others that post here really are) but from what I am reading it sounds to me like this drug will be approved in the next couple of years. In the last few months my husband has been taking blueberry, fish oil, creatine (so far just 10grams/day)... luckily he is already a healthy eater and loves to exercise but he is feeling better now about his cognitive functioning at work than he has for quite a long time. He also has less stress at work now so that may play a role...
Good luck...

Welcome, dd.

All four of my HD positive siblings were diagnosed without taking blood. I have always wanted to know what their CAG counts were, because i think it would be interested to know, but the neuro i tested with said that if the patient is already symptomatic, no blood will be drawn when i asked him if it could be done after the fact.

Eric is correct, that there is no proof that all of these things actually do any good with HD, but i think that trying it and seeing what works for her in the sense that she feels good, will improve quality of life, regardless. If that makes any sense...

Hugs,

Suzanne

I'm so sorry to hear your girlfriend has HD. But glad you're here and already getting some good answers.

5) To quote Patrick Swayze's wife, "There's always a first." There are plenty of people with borderline CAG scores (up to 39) who have beaten the disease. Perhaps Bobnetx and Will will be among the first with CAG of 40. And there's more and more hope for ALL of us every day. There were short-term small-group studies that showed no advancement over a 3-year period with a cocktail of supplements.

Here's that link and a few more:

Cocktail of Supplements ? results after 3 years (2007):
[hddrugworks.org]
Supplements & Links to Reasons (2004 Lighthouse, since then double creatine, CoQ10 is least popular b/c of bioavailability & recent findings):
[www.hdlighthouse.org]
?Running from the Devil? by Will Brown (he?s doubled creatine + added trehalose since)
[www.hdlighthouse.org]
Treatment Pipeline including explanations (HDSA ? Marsha Miller):
[www.hdsa.org]



Edited 3 time(s). Last edit at 05/10/2010 10:13AM by smiling sara.

Hi , welcome to the forum . There are some people with Huntington's Disease(pHD) that live very long lives . My Grandmother was 93 or 94 ; my Mom is still alive and is 81 and ahalf; I have had other relatives live into their 70's . But I would also had relatives who died at younger ages . All my best . db