Hello,

I've been reading the message boards for some time, but this is my first post. I am so impressed with the amount of information available on this site, and, most importantly, the level of compassion and support you all provide.

I am a young adult novelist writing a book about HD; specifically, the decision to test or not. I will also be testing later this year.

I'm interested in talking with other people about their testing experiences. It's hard to find consistent information about testing protocol...I just got off the phone with one center who told me I could get a blood test today without any counseling or examination, which really surprised me. I was under the impression that testing involved a three month process of counseling, etc.

I am trying to gather as much information as possible. If anyone is willing to talk with me about your testing experience, I would really appreciate it. Thank you so much!

Evie

may I ask what country you are from ? It seems to make a difference on testing protocols . db

Hi db!

I live in the U.S. in California, and have found inconsistent info on how the test is handled from center to center. Is there one set of guidelines that is generally followed?

Thanks!

Evie

Evie: Here in California I think there is a difference in whether you are already symptomatic and are under a doctors care. My husband tested through his neurologist but he was already seeing a psychiatrist and we were not aware of a family history of HD. We found out about the HD through the process of elimination. Our daughter who wanted to get tested just in case, went to the COE at UCLA and was required to complete counseling before they would do the blood draw.(she's neg. by the way).

Marg

"The protocol" in reality is just a recommendation. My wife was tested by a small town neurologist who didn't say anything about protocol. He first did an MRI to determine if there was any brain shrinkage and when he received the result he had her do a blood test to confirm.

Some locations swear by it - others ignore it.

All of this was before I knew anything about HD. In retrospect I would have preferred more preparation and education - but I'm pretty sure we would have taken the test anyway. I don't recall any significant post testing depression or issues related to a positive test. There was some crying but she bounced back pretty quick.

Steve I

Thank you, Marg and Steve I. Marg- I'm very glad to hear that your daughter had a negative test! Steve I- I am amazed at your, and your wife's, strength to "bounce back" quickly. The decision to test or not is such an interesting dilemma to me, and it seems that there is no easy answer. But, I am an indecisive person by nature.

One physician I spoke with said that the neurologist would order a blood test, but no counseling was necessary unless I tested positive. It seemed odd to me, as I'm thinking that having some counsel prior to testing (or even deciding whether to proceed) would be really smart.

Again, I am curious as to what others' experiences have been, both good and bad, with the testing process. I think gaining information (and opinions) is a really good idea before making a decision like this.

Thanks again!
Evie

Evie, we have a testing section here. A number of readers have shared their stories. If you haven't read them, you might find them helpful, too.

[www.hdac.org]



Edited 1 time(s). Last edit at 01/10/2008 06:31PM by Marsha.

You have to realize the Centers of Excellence are not McDonald's with strict rules for them to be named a center. They receive $50,000 a yr from the HDSA for them to spend as they wish in the center. It may be a social worker salary or office supplies or whatever. It's not enough to tell the various universities how to interact or treat patients. That's up to the universities school's of medicine to watch that sort of thing. Most would as a general rule stick to the protocol in some form but for individual cases choose to bypass it for individual reasons as they see fit. A "center" is often not a place at all that is dedicated solely to HD but an office space shared in the neurology dept. and the Dr. will see other people 4 days of the week and HD patients one day. Most of the resources for the center comes from their own school.

Steve is right about the protocol... it's guideline of ethics and was written in the 1990's and is up to interpretation and some of the recommendations were based on the future fears at the time as predicative gene testing was new. Some of the protocol might be considered a little dated or overly rigorous compared to the realities of experience we now have. Others are very strictly adhered to such as testing children under 18 yrs. of age in non-symptomatic children.

Well, I have been through testing twice. Once for a brother and once for a test that I never finished.

Both times it was a three appointment affair. One for background and knowledge sharing, once for counseling- what plans do you have if you test positive, what plans if you test negative, who is your support, etc. The third appointment was blood testing results. Just my

Evie, I just resently went through the testing process in MI. I had to go through counceling, neuro-exam, and a psycological test before I had my blood drawn. My genetic councelor told me there was no other way. I am personally glad for that because it prepared me as much as possiable for my results.. Violet

Wow! Thank you so much for all the information. What I am realizing is that testing experiences are very diverse...despite what the books say. Eric- you are so right. Some COE's I've contacted have very rigid protocols. Others say if you can pay the fee, they'll take your blood today.

I guess I can't decide if the three-month process is helpful, or psychologically taxing. Maybe it's better to go to a center where one can get results quickly. Not sure.

Violet, I really hope that everything turned out okay.

Thank you again for your input, everybody!

Evie

Evie! I live in neighboring Oregon.

I tested at OHSU. When I called asking for a DNA test for HD - I automatically provided with a genetic counselor and a neurologist with experience with HD. Both were incredibly helpful and professional.

I also had the option of consulting a psychologist familiar with the disease. I did so, because it was covered by health insurance. I found him not to be helpful - but I certainly don't discount that as being helpful to others. I've benefitted from psychologists in the past.

To be truthful - they advised me to return at a future date before I had the blood draw. I eventually conviced tham that I had been considering the decision to test - and was fully aware of the consequences, due to having so much exposure to HD as I was growing up - that I KNEW beyond the shaddow of a doubt that I was prepared for the test.

I begged that they not make me make another 2-hour trip for a procedure I had already decided on, decades ago.

I managed to convince them - and so they directed me over to where I could get my blood drawn, right then.

It DOES take a few weeks to get the results back from the blood test.

Then they call you and you make an appointment to be given the results. Most professionals frown on giving such results over the telephone.

They told me before the blood test was run that they hoped I would bring someone with me when I came in for the results. Regardless of the results, people can be kind of blown away.

It was good advice. My good friend, Don, drove me to his place (where my car was parked) - and gave me all of the time I wished to stay there before I headed back home. I stayed overnight. I had coffee with Don under the towering Pacific NorthWest fir trees - and then drove home, far more calm and centered.

That was my experience.

Hi Evie,

I tested through a HDSA Center of Excellence in So Cal. I called and made an appt for my boyfriend at the time (now my hubby) and I to find out more about HD. We had approximately an hour conversation with several people - counselors, etc. Then at the end of the conversation they asked if I wanted to be tested that day. It surprised me because it was my first visit! I declined because I wasn't ready and after a few more months of calls to their center for advice & personal contemplation, I decided to get the test. I made my 2nd appt at the CoE and they swabbed my cheek. Then a month later I returned to the CoE for the results (bad news in my case).

Those are the facts surrounding my experience.. but there is a LOT more detail when it comes to the personal experience: emotionally, financially, physically etc etc.

There is a lot of detail about my experience on my website. You would be most interested in the links "A Personal Story" and "Testing for HD":
[www.hdfreewithpgd.com]

My email is stacybrook@aol.com and I'd be willing to share any information you need.

Thanks for what you're doing!
Stacy

I live in the same area as voilet, and our testing process was exactly the sme. I am greatful that this process is set in place here. i was def prepared as much as i could have been for my results
DCB

Evie,

We live in Colorado where my husband tested positive in 2007. The nearby COE insisted on following the suggested protocol, and rightly so. For personal reasons we only wanted the test, so we found a neuologist in private practice who generally referred to it but was willing to do the test without following it. They actually ignored the protocol so much that they gave me the results over the phone........something I wouldn't recommend to anyone!

HD wasn't new to us and we DID receive a limited amount of counseling after the diagnosis, but mostly just walked through the process as a family without any kind of depression or significant negative emotional impact. We made this decision based on our evaluation of our stage of life and mental/emotional stability. We certainly didn't go through it alone either, but had a solid support network of friends and family around us.

I would suggest finding a Dr. or COE who will follow the protocol. If and when our children choose to test as adults (now ages 15-21), we will strongly encourage (just short of insisting) that they choose an clinic or office that will follow the suggested protocol.

Laura

We had our results phoned in also. It's not for the faint of heart.

Wow, thanks again to everybody for sharing your personal stories. This is way better information than that provided in the literature!

It seems that there is a much wider range of testing experiences than I had originally thought. I'm particularly shocked by the fact that some centers give results over the phone. Shocked!

Not only do I have to decide whether to test or not, but I also need to consider WHERE to test. I think my mental health will depend on it.

Hope the new year is treating everybody well. I appreciate all your help!

Evie

Evie, I ws quite short in my response to you but you are right about finding the right place--my brother and I grew up in the same home and had the same experience w/HD {none},and we both live in MI. I tested through "protocal"
councling, gaining proper knowledge prior to my testing, and results--my genetic counslor, answered every question my hubby and I had and helped us though later diffilcult times------My brother, wnt to his dctr one day for some other blood work and said "while you are taking my blood can you test for HD" his dctr did {later apologized when he realized his mistake} but did call my brother and let him know his results. My bro and I are both Gene Pos, both found out about 4 months of each other. We could say it is our personalities that have made it possible for me to deal better w/my result, but I put alot of how I have dealt w/the status is that I was prepared as best I could be ---my brother still 5 yrs later buries his head, is over weight, and fights w/anyone who crosses him, but most of all refuses to face what is happening to his father who has HD.

I wish you the best in your search for answers

Hi Evie,
I live in the UK, and I am going through the testing protocol now. I had my blood drawn last week and I find out the results this week. How much would you like to know?
I have known HD is in our family for 28 years, and that I was at 50 pct risk for 15 years since my dad was diagnosed. My brother was tested in the US in the past couple of years. When he told me early last year, I was already thinking of being tested myself. Im 48.
In the UK, if you want a pre-symptomatic test, people go to their local doctor first and he refers them to the nearest genetics counselling/testing centre. Of course, things may happen differently if someone doesnt know anything about HD but is having symptoms.
My GP was very sympathetic and it was a bit of a case of me educating him, because I knew more about it than he did. In the UK, at risk people have three genetics counselling appointments before they get the test results. My husband and I have gone together for all three. You can take a friend but are advised not to take a relative.
We were sent preliminary information about HD and the testing procedure, and told we can stop at any time, up to the moment of finding out. There were several months between each appointment to let it all sink in, and give us a chance to mull it over, or get your insurance sorted out, that kind of thing. The doctors involved want to make sure you are being tested for the right reasons and are prepared to get a positive result.
We have been very fortunate to have a brilliant genetics consultant and her excellent assistant, a genetics counsellor, looking after us and talking with us at each appointment. They are always available on the phone and have followed up every appointment with a letter reviewing what we talked about.
I went for many years being happy not to be tested, but when I began to suspect my sibling had HD, I thought I would like to know about myself too, so I can plan for my future with my family and in my career. I have not changed my mind about this, I feel ready to know, and the uncertainty was troubling me as it never had before.
But the testing protocol has been the hardest thing Ive ever done. Ive found it very painful, because it rightly forces you to face the fact that you might have HD, and that is a very sobering experience. Ive felt quite depressed. I got super stressed between Thanksgiving and Christmas with all the extra demands at that time of year, and this looming.
It's very difficult to know whether to tell friends about the upcoming test because I have wanted the support, but then they are waiting with you and that means I feel a pressure to tell them the result. But if Im positive I think I will just need to sit with it on my own for awhile and not tell anyone -- maybe even for years for some people. I havent told anyone in my family and I might not tell them for some time, whatever happens. We told our teenagers that HD is in the family over the past six months, so it would not be such a shock to them if I am positive, but I did not tell them I am taking the test.
When I went for the test last week, I took the neurological part of the test (mostly coordination and reflex exercises) and was told I have no visible symptoms. They said that means if I am positive, that gives me about five more years when I will probably not be showing any symptoms, and up to 10 years when only I and maybe my husband will be aware of symptoms.
These two weeks of waiting are incredibly hard. I feel like I cant take any extra stress, because all my emotional energy is focused on this.
I hope this is helpful, and if there is anything else I can tell you I will be glad to try.
Best wishes,
Fleur

Hi Evie,
I live in the UK, and I am going through the testing protocol now. I had my blood drawn last week and I find out the results this week. How much would you like to know?
I have known HD is in our family for 28 years, and that I was at 50 pct risk for 15 years since my dad was diagnosed. My brother was tested in the US in the past couple of years. When he told me early last year, I was already thinking of being tested myself. Im 48.
In the UK, if you want a pre-symptomatic test, people go to their local doctor first and he refers them to the nearest genetics counselling/testing centre. Of course, things may happen differently if someone doesnt know anything about HD but is having symptoms.
My GP was very sympathetic and it was a bit of a case of me educating him, because I knew more about it than he did. In the UK, at risk people have three genetics counselling appointments before they get the test results. My husband and I have gone together for all three. You can take a friend but are advised not to take a relative.
We were sent preliminary information about HD and the testing procedure, and told we can stop at any time, up to the moment of finding out. There were several months between each appointment to let it all sink in, and give us a chance to mull it over, or get your insurance sorted out, that kind of thing. The doctors involved want to make sure you are being tested for the right reasons and are prepared to get a positive result.
We have been very fortunate to have a brilliant genetics consultant and her excellent assistant, a genetics counsellor, looking after us and talking with us at each appointment. They are always available on the phone and have followed up every appointment with a letter reviewing what we talked about.
I went for many years being happy not to be tested, but when I began to suspect my sibling had HD, I thought I would like to know about myself too, so I can plan for my future with my family and in my career. I have not changed my mind about this, I feel ready to know, and the uncertainty was troubling me as it never had before.
But the testing protocol has been the hardest thing Ive ever done. Ive found it very painful, because it rightly forces you to face the fact that you might have HD, and that is a very sobering experience. Ive felt quite depressed. I got super stressed between Thanksgiving and Christmas with all the extra demands at that time of year, and this looming.
It's very difficult to know whether to tell friends about the upcoming test because I have wanted the support, but then they are waiting with you and that means I feel a pressure to tell them the result. But if Im positive I think I will just need to sit with it on my own for awhile and not tell anyone -- maybe even for years for some people. I havent told anyone in my family and I might not tell them for some time, whatever happens. We told our teenagers that HD is in the family over the past six months, so it would not be such a shock to them if I am positive, but I did not tell them I am taking the test.
When I went for the test last week, I took the neurological part of the test (mostly coordination and reflex exercises) and was told I have no visible symptoms. They said that means if I am positive, that gives me about five more years when I will probably not be showing any symptoms, and up to 10 years when only I and maybe my husband will be aware of symptoms.
These two weeks of waiting are incredibly hard. I feel like I cant take any extra stress, because all my emotional energy is focused on this.
I hope this is helpful, and if there is anything else I can tell you I will be glad to try.
Best wishes,
Fleur