Transcript

Outlook: Huntington's Disease

Dr. Martha Nance
Struthers Parkinson's Center and the University of Minnesota
Monday, September 26, 2005; 1:00 PM

Today there are thousands of Americans who have had themselves tested for the gene for Huntington's Disease and know they will get it. They've seen a parent suffer with it or die from it. But there's still no cure. As genetic testing advances, more and more Americans could find themselves in similar positions, dreading an all-too-familiar fate. In an article in Sunday's Outlook section, Dr. Martha Nance , a Minneapolis neurologist who runs a Parkinson's Disease clinic and who is doing research on treatments for Huntington's, discusses the moving tale of one person who has the gene and the race to find a way to treat people like him.

Dr. Martha Nance was online Monday, Sept. 26, at 1 p.m. ET to discuss her Sunday Outlook article, An Uncertain Journey Along the Genetic Trail .

The transcript follows.

____________________

Arlington, Va.: Dr. Nance: Thank you for taking my question. I've received differential diagnoses from many doctors about my dad. He's been diagnosed with Parkinson's Syndrome and has severe delusions and memory loss, including having "forgotten" how to walk (biologically, he should be able to walk but cannot). These first came about after a stomach surgery, and he was diagnosed with Parkinson's a few months later. How common is it to have delusions as the first onset symptom of Parkinson's Syndrome?

Dr. Martha Nance: It would be unusual to have delusions as the first symptom of PD, but not impossible. Other possibilities include Lewy Body Disease, in which the motor features of PD are combined with hallucinations and dementia, or dementia (such as Alzheimer's disease) where delusions might be very common and loss of motor abilities could also occur.

_______________________

Fennimore, Wis.: Over the last few years there seems to be more awareness of Huntington's Disease, but Juvenile Huntington's Disease is not mentioned. For parents of these JHD children it is a nightmare that we live with with very little support or knowledge from the medical profession. This rare and devastating disease takes our children from us cell by cell. Will the future hold more research on the juvenile form of this disease? How can we as parents make the world more aware of JHD?

Dr. Martha Nance: Wow! All the juvenile HD parents are at the front of the line asking questions. I have written a book, published by the HD Society of America, about juvenile HD. It is also possible to network with other JHD families over the Internet, and that can be very helpful. As with adult HD, though, you will end up having to find out what resources you need, and what resources are available in your community. If you do not get enough support from the HD community, you may get support by banding with other parents whose children have other devastating neurologic diseases of childhood; the resources available will be similar whether it is HD or Tay Sachs disease or some other severe neurodegenerative disorder.

_______________________

Posen, Ill.: My husband tested positive in 2003 with a CAG repeat of 42..Does the Cag repeat represent any thing to do with the disease? He is 54 now..And I would say he is in the mid stages of the disease..How long is it before he gets worse? Thank you.

Dr. Martha Nance: In general, the larger a CAG repeat number is, the later the onset age tends to be, but the relationship is not firm, so you cannot predict exactly what age you will get symptoms just by knowing the repeat number. Once the disease begins, it progresses gradually over years, often twenty years or more. Some people seem to progress more quickly than others--

_______________________

Columbus, Ohio: Dr. Nance,

For the past ten years, one of my HD wife's chief complaints has been long and sustained hot flashes. She will constantly have the air conditioner, several fans and an ice pack on her (even in the winter).

It's a very miserable condition for her. Are there any remedies and is this a common complaint?

Thanks.

Dr. Martha Nance: Many people with HD seem to be metabolically "overactive", so that they are hot when other people are cool or comfortable. I do not know of a better solution than to dress as appropriate for how the person feels (but avoid dangerous things like going outside without a coat in the winter), use fans, drink adequate fluids. Some medications may contribute to "hot flashes", so check with your doctor about that. Finally, middle aged women can have hot flashes due to normal hormone changes, unrelated to HD.

_______________________

Clearwater, Fla.: Dear Dr. Nance

I am excited for all HD families that you have this opportunity, through The Washington Post, to educate people on Huntington's Disease! As you know, my only child, Kelly, died from the juvenile form of this horrific disease in 1998. Juvenile Huntington's Disease (JHD) typically is more insidious (if possible] then the adult version because an affected child's CAG repeats are in the higher ranges, therefore the duration of illness can progress at a faster rate.

There are thousands of children and young adults diagnosed with JHD in the United States, and even more living at-risk. The Huntington's Disease Society of America -HDSA Huntington's Disease Society of America , in recognition of my daughter's fight against HD, honors a family each year at their national convention who courageously bring awareness to Juvenile HD in their communities. As one of the adult advisors to the HDSA's National Youth Alliance -NYA- I know, first hand, the impact to these young people having the disease and/or living at risk who are trying to make theirs THE last generation of HD. So many of these same children are a part of the 1+ million children in the USA today who take care, or help take care of, a sick or disabled family member-.

The majority of current literature on Huntington's Disease indicates that the youngest known case of Juvenile Huntington's Disease -JHD is two years old. Today, we know of children as young as 6 months old being diagnosed with the juvenile form of HD. Yet, the world-at-large -not to mention so many of the neurologists and other physician's], remain totally unaware of the significant number of children and teenagers with this disease!

In light of this, my question to you is:

What is being done in research today to help us better understand Juvenile Huntington's Disease in hope not only for a cure or something to stop the progression of the disease, but to help these families provide the BEST quality of life and care to their children with JHD?

Thank you Dr. Nance and The Washington Post!

Warmest regards,

Jean E. Miller

HDSA CoE at USF

Patient Advocate

Clearwater, Fla.

HD Links: HD Links

-1 million U.S. children are caregivers

By Janet Kornblum, USA TODAY

URL: 1 million U.S. children are caregivers.

Dr. Martha Nance: Hi, Jean. Thank you very much for pointing out to all the importance of organizations like the Huntington's Disease Society of America!

You are correct that the main focus of clinical research in HD is on the adults who make up about 90% of affected individuals. However, one could argue that the mouse models of HD used in laboratories are actually models of juvenile HD, as the HD gene mutations put into their cells more closely resemble those of children with HD than adults.

Regarding care for children with HD, I am working with a committee of doctors and researchers headed by an HD specialist in Europe to introduce a worldwide effort to improve care for juvenile HD. Stay tuned over the next year or two as we increase our efforts.

_______________________

Fairfax, Va.: My son was diagnosed with Sandhoff's disease a year ago and has since had a stem cell bone marrow transplant at Duke Children's Hospital. Is this a possible treatment for Huntington's too?

Dr. Martha Nance: Stem cell transplants are not yet possible for Huntington's disease, although researchers are looking for ways to make this approach work. The cells that are affected first in HD are called "medium spiny neurons"--they are part of a "middle management" network of cells in the brain, and may be hard to convince stem cells to take on the characteristics of these type of neurons.

_______________________

Washington, D.C.: Hi Martha. My name is Libby Labash and I serve as VP of the Chesapeake Chapter of the National Ataxia Foundation. We have met at several of our annual medical meetings. My husband suffers from Ataxia which is a CAG repeat disease as I believe Huntington's is. Your article really hit home - I could really relate to your friend's comments. I've read a lot about neurodegenerative diseases coming about as a result of the inflammation resulting from these accumulating pieces of protein that cannot be recycled as they "fold" improperly. What work is being done to test the impact of "anti-inflammatory" drugs with these diseases?

Question 2:

My husband has suffered stoically from Ataxia for 20 years. We appreciate the research which is painfully slow but so yearn for something hopeful. It seems like every research article I read ends with "someday".

In the corporate world we typically put a timeline on getting results which I find beneficial. Is this an issue in the world of medical research?

Thank you for your continued support and your concern.

I have a an appointment today that will cause me to miss your live comments.

Best - Libby Labash

Dr. Martha Nance: Hi Libby! Yes, please insert the word "hereditary ataxia" wherever you saw the work "Huntington disease" in the article. The general ideas and thrust of research are the same for these diseases. A study has just begun looking at the role of ethyl-EPA (the active ingredient in fish oil) in HD--and the thought is that some of its effects may be anti-inflammatory.

It is hard to put a time-frame on research discoveries, but the HDSA has tried to create and fund a research structure that encourages the continuum of basic science to "translational science" through to drug trials, with some accountability and time frames, deadlines, etc. We will see how well that works--

_______________________

Dubuque, Iowa: What drugs do you recommend Hungtington's patients be taking, and what vitamins?

Dr. Martha Nance: appropriate drugs depend on the symptoms. There is no drug that you have to take because you have HD. Regarding vitamins, none have any proven effects, but the things people talk about include Vitamin E (with the recent report suggesting that doses >400IU/day can be harmful), multivitamins, which would cover any nutritional deficiencies, perhaps the B-vitamins, which are important for the brain, fish oil or omega-fatty acids--in standard doses, and Coenzyme Q10. There is a lot of research interest in CoQ10, although again no proof that it slows the course of the disease, and the doses that are being considered for research trials are very high--over 1,000mg/day. The decision about how much of what vitamin to take has to be made by the individual, knowing that there is no proof they will help at all! And do let your doctor know what you are taking.

_______________________

Baltimore, Md.: Dr. Nance,

Thank you for answering questions today. I was moved by your editorial. My mother was diagnosed with Alzheimer's at the age of 64. Four years later, the disease has taken a terrible toll on my mother and our entire family. In addition to constant worry about our mother, my siblings and I are terrified by the possibility that we will also get the disease. There does not seem to be hopeful research about preventing Alzheimer's disease. (Crossword puzzles? Exercise? Wine?) Current medication only prolongs a difficult disease. What can we do to further effective research into these terrible diseases? Thank you.

Dr. Martha Nance: Beat the drums and work cooperatively with the appropriate lay organizations. Write letters to your congressmen supporting scientific research (and not just research on your disease of interest--sometimes the most amazing breakthroughs come from someone who was originally working on a different problem or in a different area). Make your story known to people around you, and participate in research trials when they become available.

_______________________

Baltimore, Md.: Hi Dr. Nance, I'd be interested in your feelings about gene therapy as a potential treatment for Huntingtons, Parkinsons, etc....

Thanks.

Dr. Martha Nance: Gene therapy may more quickly be applied to HD than to PD or AD, because HD is clearly a genetic disease. A very exciting "gene therapy" approach under study today is the idea of "gene silencing" by means of "RNA interference"--a recently discovered cell mechanism that has the ability to stop a gene from being expressed. Delivering the interfering RNA to the brain cells at the right time is the trick--and proving that the interfering RNA only blocks the gene of interest and not any other gene...Stay tuned, it is an exciting possibility!

_______________________

Omro, Wis.: Why does HD affect kids so differently?

When will there be some decent studies of JHD children?

Dr. Martha Nance: Thank you to all of the JHD people for writing in. I mentioned earlier a plan to become involved with a European group spearheading a worldwide JHD initiative--stay in touch and we will see how that pans out...

_______________________

L'Anse, Mich.: Dear Dr. Nance,

My name is Jane and I'm 38. I'm a care giver to my youngest daughter Karli, age 9, and my husband Karl, age 44, both of whom have Huntington's Disease and both of whom are in mid stage. I also have a 12 year old daughter, for whom we are awaiting the gene test results, a 15 year old daughter at risk, and a 19 year old daughter who is away at college.

As you know our story is only one of thousands here in the United States alone. There are a multitude of issues I face in care each day. Due to the limited awareness about this disease (particularly JHD) much of my time is spent seeking information resources and support to try to ensure everyone has the BEST quality of life. I have had the privilege to meet many amazing people along the way, "everyday heroes" whose love, compassion and strength always amaze me. I've met a lot of people who find it within their hearts to want to help make a difference for families such as ours, many of whom aren't quite sure how to help and many of whom have been my hope for that moment.

Often while seeking out services weather it be for therapy services,respite care, counseling, intervention or whatever happens to be the need of the day I find that Huntington's Disease and or the multiple number of family members in my home afflicted with HD doesn't fall into any one category. Often I find that help is often based on being reactive rather than proactive. Often I feel like a pioneer navigating my way through unknown territory. I have always tried to be proactive out of need. My daughter and I have had the privilege to partake in the national ad campaign "The Many Faces of HD" and a number of other events to try and be proactive in generating awareness. We are hopeful this might be our last generation of HD and our experiences might help other families gain the help and support they need with less resistance.

My questions for you Dr. Nance are beyond generating awareness how do I proactively meet my families needs? How do I help our families needs fit the programs available? example:with HD/JHD therapy is habilitative in need rather than rehabilitative, however, the frame of thought can be to discharge a patient once they plateau. Is it possible to proactively manage my husbands symptoms including aggression, mania and paranoia prior to anything harmful happening to anyone when he is resistant to care? What resources are available to assist others in understanding or assisting others to help us help our loved ones? Is there a person or organization the specializes in helping to manage the multiple needs for a family as ours, to help ease care giver burden,and help provide more quality care?

Thank you Dr. Nance and the Washington Post!

With much appreciation.

Dr. Martha Nance: Hi, Jane! You and I share the use of the word "proactive" in describing what is desirable and hardly ever accomplished in HD. I would argue that this is to a certain extent a general problem in medicine, that we see patients in our offices because of a problem and then address that problem, and only in the context of general physical exams does it dawn on us to be proactive (and by the way, specialists like neurologists don't do general physical exams, we ONLY see people with problems). So part of the problem is changing the whole nature of the medical encounter. Or perhaps you work with your primary care doctor on the proactive aspects of your care (after educating that doctor about the particular disease you are dealing with). Or you have to teach your neurologist to think proactively, by asking questions like, is there anything we should be thinking about to plan for the future? Do you think we will need a wheelchair? in-home nursing? nursing home? etc etc.

Rehab therapies are only paid for by insurers for a finite period of time, although we all believe that continued exercise is a good thing. But medical insurers will not pay for "maintenance" therapy.

Wherever you go, you will find that you have to educate (and re-educate) the various care providers that your husband works with. I do not know of an organization that specializes in meeting the multiple needs of families with neurodegenerative diseases; organizations like HDSA and others help to provide information for you and for caregivers and health providers about the disease, and local MDs and social workers and nurses can help you access what resources are available in your community. The same questions and problems apply to people with PD and Alzheimer's and many other chronic diseases, unfortunately...

_______________________

Washington, D.C.: Dear Dr. Nance, I would like to know - given advances in gege therapy and stem cell research - whether it is possible for parents with HD to give birth to a baby without HD by removing the HD defective gene in the laboratory or by stem cell therapy of therapeutic cloning.

Dr. Martha Nance: Gene therapy and stem cell therapy are not here today for HD. However, it may be possible to have a child that is known to be free of the HD gene by using a technology called "nondisclosing preimplantation testing". In this technique, the woman takes fertility drugs, and the eggs are removed, the man's sperm are used to fertilize the eggs in test tubes, the embryos are allowed to develop up to about the 8-cell stage, and one cell is removed for genetic testing. Only an embryo free of the abnormal HD gene is implanted into the woman. This can be done without revealing whether the at-risk member of the couple actually has the abnormal HD gene or not.

_______________________

Clovis, Calif.: Dr. Nance, First of all, I would like to say thank you for your hard work towards treating and educating people about HD. With that said, I have a question for you. Even though I have been involved with HD for years as a caregiver for my loved ones, I can't seem to find a answer to what the standard vitamin/supplement standard is. I realize that because there seems to be no "proven" benefit, that it is just guess work. But, it seems if you ask 20 different people what they are taking or has been recommended by their docs, you will get 20 different answers. I know there's fish oil, Q-10, antioxidents, etc., but is there any general guideline for where to start? I am referring to both adult and Juvenile HD. Also, would these be a benefit to someone with Alzheimer's, as well? Thank you for your time!

Dr. Martha Nance: I answered a similar question moments ago. It is hard for doctors to be specific about what dose of a treatment with no proven benefit you "should" be taking, and the answer gets intertwined with the doctor's own views, beliefs, and opinions, as well as medical-legal concerns about "recommending" a treatment of no proven benefit. With all those disclaimers, things that people talk a lot about include Vitamin E (latest evidence suggests that >400 IU/day can be bad); fish oil or omega fatty acids, in usual doses; multivitamins in standard doses; B-vitamins, in usual doses (perhaps people with PD who take levodopa should take higher doses of folate, as you use up folate when you metabolize levodopa, but there is no proof that you live longer or better with PD if you take folate, and no clue what "higher doses" might mean); and Coenzyme Q10. With CoQ10, research has pointed towards the possibility that very high doses (1200mg or more) may have benefits, but definitive proof is lacking.

_______________________

Owings Mills, Md.: I am a 55 year-old male, diagnosed with HD, and part of Johns Hopkins Hospital Laxdale drug study for years. Coupled with an anti-depressant and decent exercise, I am feeling chipper. What gives? Thank you.

Dr. Martha Nance: If you are going to have any chronic disease, whether it is HD, diabetes, or Parkinson's, you will do better if you a) eat right, b) sleep well, c) exercise regularly (especially if you have a movement disorder), d) engage in activities that you enjoy or that make you feel good (which for some people includes participating in research), and e) have good spiritual health--acceptance without resignation. Congratulations to you on your good health, and pass it on!

_______________________

Fairfax, Va.: Thank you for your article, Dr. Nance.

Like many who are at-risk for HD, I have come to the conclusion that it is better not to know whether I have the gene until there is progress towards a cure. Of course, I'm encouraged that several lines of research are being investigated and that clinical trials are beginning.

Unfortunately, my sister knows she has the gene. How would she find out about participating in one of these trials? Also, if it turned out that I did have the gene, I would want to stop onset as soon as possible. Would it be possible or advisable for me to participate in a clinical trial even though I haven't been tested?

Thank you.

Dr. Martha Nance: PREDICT-HD is a research study that has almost completed enrollment, designed for people who have had a gene test but do not have symptoms yet. PHAROS is a research study that has completed enrollment, designed for people who have not had a gene test. COHORT is a research study coming soon to evaluate anyone and everyone from HD families. All three are "natural history studies", meaning that you are free to take any treatments you would ordinarily take while participating in the study. All three studies are being conducted by the Huntington Study Group, which has a Web site at which you can get more details about these and other HSG studies.

_______________________

Washington, D.C.: Hello Dr. Nance. This is Gene Veritas, the person about whom you wrote in your article. I want to thank you for raising the profile of Huntington's disease. I wanted to point out that people can read more about living at risk at my blog at http://www.curehd.blogspot.com/ . Or they can e-mail me at stophuntingtonsdisease@yahoo.com. My question is: it seems that curing HD could prove to be the Rosetta stone for curing many other neurological maladies. Can you comment on this observation and the need to have greater public support for HD research?

Dr. Martha Nance: Hi, Gene, and thank you for giving me the inspiration, actually--more than that--being the reason--for this article! You are correct that the answers to HD may in fact be, or may quickly lead to, much better answers for other more common diseases like PD, Alzheimer's, and ALS. Just as is the case for cancer, there are similarities (and probably some differences as well, but let us focus on the similarities for now) between different types of neurodegenerative diseases. So a drug that slows down nerve cell degeneration in HD may also slow down nerve cell degeneration in AD or PD too. There are likely also to be unique aspects to each disease, so there may be treatments that are special for one or another disease that would not work for the others.

In addition, if we want to start treatments very early in the course of the disease, perhaps even before the doctor can clearly diagnose the disease, then the best disease to study first is HD, as we have the ability to know in advance who will one day develop HD. We do not yet have that ability for PD or AD. But if a treatment slows HD in the very earliest stages, then maybe it would do so also in the other diseases....That is an exciting thought!

_______________________

Springfield, Va.: Dr. Nance,

My wife and I have a very close 25-year old niece who recently tested positive for the HD gene, which she inherited from her father who is in the mid-to-late stages of HD. I don't know the details of her test results as my knowledge of HD is limited. Our niece seems to be handling this news remarkable well (at least among her family). My question is how can we best support her through this?

Thanks.

Dr. Martha Nance: I would support her by emphasizing the importance of wellness. Now that she knows she will some day develop HD, she should pay particular attention to her overall health, her spiritual wellness, her physical health and stamina. It is also a good time to plan appropriately for the future--financially, logistically, becoming knowledgeable about the disease, and so on. For some, it is important to be involved in advocacy, research, etc, while for others it is much more important to live every aspect of their life BESIDES HD as fully as possible now.

_______________________

Washington, D.C.: Dr. Nance, please clarify whether parents in the 21st century can truly say they are "unknowingly" giving birth to a baby with HD? Can't the defective HD gene be removed in the laboratory so that the parent can give birth to a healthy baby without HD?

Dr. Martha Nance: the defective gene cannot be removed in the laboratory. Most parents at risk for HD do not undergo any type of genetic testing or treatment, but have children in the natural fashion, as is their right. Each child of a person who has HD carries a 50% risk of having inherited the gene and therefore developing the disease one day. One of the very difficult parts of the disease, though, is that people often have children at a time in their lives when they do not yet know whether they will develop the disease or not. The choice to find out one's own genetic situation before the onset of symptoms is a very difficult one, and the vast majority of people in the US do not undergo "predictive" testing to find out whether they carry the abnormal gene or not.

_______________________

Washington, D.C.: The part of the article that absolutely took my breath away was the person who, knowing they could be a carrier, had children without finding out if they were a carrier.

How could anyone take that kind of risk with their childrens' lives? What on earth are they thinking?

Dr. Martha Nance: Actually, one of the most anxiety-provoking parts of Gene's story was that he and his wife DID undergo genetic testing for their fetus, with the fears, guilt, and uncertainties that go along with that. The decision to undergo any kind of genetic testing, whether for oneself or a fetus, is a very difficult and personal one, and people's opinions vary widely on their use. The majority of people at-risk for HD in the US do not have predictive genetic tests, and the majority of at-risk couples do not undergo prenatal testing.

_______________________

Washington, D.C.: Dr. Nance--

I just wanted to say thanks for a terrific piece that captured the difficulty for HD families and their loved ones at risk.

I also wanted to alert readers in this D.C. metro area that there are 2 support groups nearby where people can go for questions, comments, and a shoulder to lean on. Both are run by the Washington Metro Chapter of the Huntington's Disease Society of America and bioth are run by social workers.

People should not hesitate to call our office with questions about the support groups or if they need other information about HD. The chapter can be reached at 703-323-1403.

Thanks for all the time and work you give towards fighting HD.

Dr. Martha Nance: Thank you very much!

_______________________

Owings Mills, Md.: I am a 55-year old male, diagnosed with HD by Johns Hopkins Hospital. I have been part of their Laxdale drug study for years. With Paxil and exercise, I feel ok until these type events come along. What gives?

Dr. Martha Nance: Keep up the good work and the exercise! Be happy for the good days, and don't sweat the senior moments...

_______________________

Washington, D.C.: My husband suffers from Huntington's but is in total denial. It is therefore difficult to try to get him help. Are there any treatments that improve the quality of life for Huntington's patients? Would it be of value to try to make my husband face the inevitable? Or can we try to address some of the symptoms without forcing him to admit that he has disease. Would a GP be able to offer any help or do we have to go to one of the local Huntington's center?

Dr. Martha Nance: A GP may well be able to help and may be less threatening to your husband than an "HD expert." I have had some patients whom I can never get to accept any kind of treatment, but others seem to have thinner layers of denial and allow discussion and treatment of their symptoms even if they do not acknowledge the diagnosis of HD!

_______________________

Fairfax, Va.: Dr. Nance,

Please announce this info.

For those, who live in the Washington, D.C. area desiring assistance/information on Huntington's Disease: The Washington Area Huntington's Disease Society of America Chapter help line phone number is 703-204-4634. There are two support groups meeting in the Washington, D.C. area, one in Kensington, Maryland and one is Northern Virginia, near Falls Church. Social workers attend each meeting. I am a care giver and have attended the Falls Church group for five years.

Thanks,

Dave

Dr. Martha Nance: Thank you!

_______________________

Anonymous: I think it's the larger the repeat the earlier the onset with HD.

Dr. Martha Nance: In general, larger repeat numbers are associated with earlier onset ages, but there are clearly other factors that play a role. We just haven't identified what those factors are yet. But you can't compare repeat numbers with your brother or friend and be sure who is going to get the disease earlier or later just based purely on the repeat number

_______________________

Springfield, Va.: My father had HD and died about 35 years ago. His onset was at about age 30. What are the chances that I, now 71, will also get the disorder?

Dr. Martha Nance: You can't help thinking your risk is much lower than the 50% it was when you were born, but if I were speaking to you in my clinic, I would emphasize the thought that we cannot ever be sure that the risk is 0. Some people chose to undergo a gene test at your age, just so that they can be clear to their descendants that there is or is not any risk at all to them.

_______________________

Washington, D.C.: Dr. Nance,

Your piece was fascinating and heartbreaking. I find it completely appalling that your college friend and others like him cannot even risk getting tested under their own names, without suffering significant prejudice including, but not limited to, the loss of their livelihoods and disability insurance.

Do you see any way around this?

Dr. Martha Nance: There are laws coming state by state to prevent health insurers from having access to this kind of information, but there is no way to prevent the potential personal stigma associated with genetic tests and risk. In fact, when we looked, we found that more men than women chose to undergo genetic testing for HD anonymously, and that their stated reason was more related to professional and personal issues than to concerns about insurance. If your boss ever knew that you and the other guy were both up for promotion and that you had the abnormal HD gene, who might get the promotion??

_______________________

Washington, D.C.: "Most parents at risk for HD do not undergo any type of genetic testing or treatment, but have children in the natural fashion, as is their right."

Ah yes, their "right" to bear children who will suffer and die young. Their "right" to condemn someone other than themselves to pain. Their "right" to create a child who will have to watch them die horribly and see his or her future in that death.

That's not something that a loving parent would do.

Dr. Martha Nance: On the other hand, music in America would not be the same had Woody Guthrie and his son Arlo not existed, or if my many patients who are successful doctors, lawyers, teachers, mothers, artists, children, etc etc etc not existed. One could even argue that HD is part of what gave Woody Guthrie his creative genius. This is a point that one can debate endlessly, and I would prefer not to continue the argument.

_______________________

Dr. Martha Nance: I thank all of you for your questions; please continue to ask questions, to demand answers, to support those around you who have HD and other neurodegnerative diseases, and to advocate for the support for research to find better answers to the problems posed by these diseases!

_______________________

Dayton, Tenn.: In response to "How can someone unknowingly pass on this gene?" My husband did not have a family history. We had not idea HD was in his background until he was finally diagnosed in his 50's. Our daughter was in her mid teens. Ten years later she has tested positive. I will not share more as I know every HD family has experiences that are unique and devastating. However, God has given us peace and hope while allowing us to have the presence of mind to begin planning for the future that may be. I thank him daily for the two greatest blessings of my life- my children. Thank you.

Dr. Martha Nance: thank you--

_______________________

Editor's Note: Washingtonpost.com moderators retain editorial control over Live Online discussions and choose the most relevant questions for guests and hosts; guests and hosts can decline to answer questions.


© 2005 The Washington Post Company