Sunday, December 18, 2005

A Huntington's Christmas story: ten years of wondering

For the past ten years Christmas has come with a tinge of sadness in our family, as we remember the bad news about my mother.

It was the day after Christmas in 1995, and life seemed good. I was getting established in my career, and my wife and I were talking about starting a family. We were in our thirties and had few worries.

Then I opened a letter from my sister. “It’s a relief to finally know what Mom has,” it read.

This letter came as a surprise to me. For some time I had known something was wrong with my mother. My dad had mentioned that my mother’s legs were shaking uncontrollably at night. She and my father, who live three time zones away, had paid us a two-month visit earlier in the year. One day my mother was very depressed and angry, so I gave her a massage to try to lift her spirits. She said she felt better, but I sensed that there was more to the story than just depression or a quirk of personality. I urged my father to take her to a specialist. He did but failed to keep me fully abreast of the doctors’ reports.

I immediately called my sister. “What does Mom have?” I asked.

“You mean they didn’t tell you? Mom has Huntington’s disease.”

Huntington’s disease? I had never heard of it. I at first felt good that we finally knew what was wrong with my mother. My coaxing my dad to get her help had brought results.

Then my sister explained that Huntington’s was an inherited genetic disorder. She and I had a 50-50 chance of having it. And if we had it, our kids would face equal odds of losing their bodies and their minds.

My sister has three sons; in 1995, they were ages ten, eight, and six. What a terrible blow it must have been for her to learn that they were at risk for HD!

I rushed into the next room to tell my wife. One of the first things I said was that we might have to put off having children. We were devastated.

That same day I called one of my mother’s doctors to get further details on Huntington’s. I told him that I wanted to get tested immediately. He cautioned me not to do so, because of the risk of losing my job or not being able to get certain kinds of insurance. A person at the local chapter of the Huntington’s Disease Society of America gave me similar advice and invited me to attend the monthly support group meeting.

That fateful December 26 I felt gripped with fear as I lay in bed worrying about my mother and my own future. My wife hugged me as she had never done before.

And so began ten years of wondering.

How long will my mom hold out? She has experienced a steady decline to the point where she is now virtually helpless and living in a nursing home.

When will an effective treatment or cure be discovered? The HD gene was discovered in 1993 and literally scores of research breakthroughs have been made by some of the world’s most interesting scientists, but there is still nothing that effectively stops or controls the disease.

How and when will my own symptoms start? After living in denial for several years, I got tested in 1999 because we wanted to start a family. I am gene positive. Having this defect means that I will develop symptoms, perhaps as soon as in the next few years. As the years have gone by, I have become increasingly anxious. The worry becomes more acute at the Christmas-time anniversary. It’s also a few days before my birthday. Each year we’re reminded that time keeps ticking, and the probability of my illness increases.

Worst of all, this year Mom won’t spend Christmas at home for the first time in her 68 years. Instead my dad and my sister will celebrate with her at the nursing home.

This year there will be no gift of a treatment or cure. My dream is that I awake some December 26 to hear the news that Huntington’s disease has finally been stopped.

Friday, December 02, 2005

A Thanksgiving visit: a time to reflect on HD

My dad traveled to visit for Thanksgiving, bringing the stark reality of my mother’s affliction with Huntington’s disease into our household.

I have seen my father, now 78, become tearful only a few times. But he cried when he first talked about my mother, whom he left for the first time in 47 years of marriage in order to spend ten days with us. He has been doing a lot of crying since putting my mother, 68, into a nursing home in August, he explained.

“I ask God, ‘Why our family?’” my dad said. A devout Catholic who believes in accepting God’s will, he added quickly: “I suppose I shouldn’t ask that question.”

Later I decided to ask him: “Why do you think God would choose our family?”

“Maybe he’s testing us,” my dad responded.

“That’s quite a big test he’s putting us through,” I rejoined.

I asked myself that same question – “Why us? Why must I be at risk for HD?” – over and over again during his visit. I don’t discount the possibility that in some odd way there might be divine purpose in Huntington’s disease. But mainly I believe that our creator – whatever it may be – has placed us in a universal struggle for perfection and justice. Curing HD is just one of the great challenges that humanity faces. At-risk people like me who are fighting to ward off onset and striving to support those who research treatments are front-line fighters in that great struggle. We try to set an example for others, raising awareness about genetic diseases and pointing out the need for compassion.

I also don’t discount my father’s faith. Over the past fifteen years, it has helped him care for my mother day after day and to accept her gradual but inexorable decline into the infant-like helplessness HD causes.

“You’ve shown a lot of strength,” I told him as we went out for a drive one night.

“I didn’t know how much I loved your mother until these past few years, taking care of her and seeing how much she has lost,” he said.

The transition of the last few months – Mom into the nursing home and Dad living alone for the first time– has been tough. But that same strength is there. He visits her every day for several hours, taking her favorite fruits and talking patiently with her even though she can no longer speak.

For the first time since August, he and I talked to her together on the phone, because at my house we have two extensions. I have sorely missed these three-way conversations in which my dad and I did all the talking and my mom simply listened. Whenever I call her at the nursing home, I am at a terrible loss for words. I usually speak for just four or five minutes, telling her about her five-year-old granddaughter and other things in our life.

“Whenever I arrive at the nursing home, her face just lights up in a big smile,” my dad said many times during his visit. “That makes me feel so good.” He added, “I know I made the right decision putting her in the home. I know she’s happy there.”

One of the hardest parts of my dad’s visit was seeing him so frail. Seeing the man I might become has made me think a lot about my own mortality.

But I fear most my mother’s fate, because I, too, am gene positive for HD. More difficult than seeing Dad was looking at pictures he had taken of my mother at the nursing home. These were the first photographs I’d seen of her since the move. My dad pays a woman to do Mom’s nails and set her hair, but he still needs to coach the nursing home staff on how to use a shower cap to keep her hair nice. It was hard knowing that she can’t receive the same loving care that my father provided (but can no longer provide). There were also photos of her in a wheelchair and with the grimace HD people typically express.

My dad left me some of the pictures. My wife, my daughter, and I looked at them very briefly. My wife and I didn’t say anything, and we quickly put them away. I’ll let them sit a few days until I can collect my thoughts about the flood of emotions that came with my dad’s visit.

When I get the courage to look at them again, I think I’ll take out my favorite picture, the one in which Mom has that big smile that Dad likes to describe. Despite all that HD has done to her, it reminds me that she is still alive and human!

I think I’ll frame that picture.

Saturday, September 24, 2005

Dr. Martha Nance to do live chat on HD

Monday, Sept. 26, at 1 p.m. ET
Outlook: Huntington's Disease
Incurable Disease Looms Before Those With Gene
Dr. Martha Nance
Struthers Parkinson's Center and the University of MinnesotaMonday, 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 will be online Monday, Sept. 26, at 1 p.m. ET to discuss her Sunday Outlook article on Huntington's Disease.

Click on this link for more information: .

An uncertain journey along the genetic trail

This article about me is in the September 25, 2005 edition of The Washington Post. I will comment on it in my next entry.

An Uncertain Journey Along the Genetic Trail

By Martha Nance
Sunday, September 25, 2005; B03

There is, unfortunately, a painful lag between scientific knowledge and its benefits. As an expert in Huntington's disease, a degenerative neurological condition, I am keenly aware of this. We know how people get this disease, and there's been an explosion of new information about it, but we still don't know enough to treat or cure it.

Huntington's is caused by a genetic abnormality, one that is easy to test for. And if you inherit it from one of your parents, you will, if you live long enough, eventually develop the symptoms, which can include dementia, depression, involuntary movements and lack of coordination.

This knowledge about one's fate is not unique to the 30,000 sufferers of Huntington's. As genes relating to Alzheimer's and Parkinson's disease and breast cancer and many other medical conditions are uncovered, there is an increasing ability to look into the crystal ball and see which of your parents' fates might be yours. It may seem somewhat distant when it is a disease unfamiliar to you, but it hits you between the eyes when it involves your family or friends.

That came home to me recently when I received a note from a college friend. I hadn't been in touch with him since we'd graduated. He read about me in a publication of the Huntington's Disease Society of America (HDSA) and he sent me his story. He did not know whether I would remember him or what I would think of his plight. His only hope was that I would recognize his ordeal and find some way to help. And I was distant enough not to compromise his desire to remain anonymous; the stigma associated with Huntington's can harm a person's career and relationships, not to mention the ability to get health insurance. He said he felt he was leading "a double life" between his outwardly serene routine and his inner struggle. He called his account "Looking Into the Genetic Mirror," which he was willing to let me quote at length.

"My future began to slip away the day after Christmas 1995, when I received the jolting news that my mother had tested positive for Huntington's disease (HD). Finally I understood her shaking limbs and increasingly angry, childlike manner," he wrote.

He had a good understanding of the medical implications for himself. "I had a 50-50 chance of inheriting HD," he continued. "If I did inherit it, there was no escape, as HD afflicts all carriers of the abnormal gene. Symptoms usually strike in a person's prime, between 30 and 50. There is no cure, nor effective treatment. I was 36, and I could pass HD on to the children my wife and I hoped for.

"I wanted to get tested immediately to find out whether or not I carried the abnormal gene, but local HDSA support group members warned that at-risk individuals had lost their jobs and could not buy health or life insurance. All our dreams went on hold. That night, as fear overwhelmed me, my wife held me tight.

"Each encounter with my mom became a view into a nightmarish genetic mirror. I watched her body jerk, head bob, and fingers fret. One night I found her wandering around our house confused and half naked. Within a year she lost most of her capacity to speak. She ate clumsily with her hands.

"With my wife pressing me to start a family, in mid-1999 I discovered my genetic fate through an anonymous testing program. The doctor's words echo: 'You have your mother's gene for HD.' Stunned, I fell into a fog of acceptance, denial, and defiance.

"The next look into the mirror was even more excruciating, because my wife became pregnant. For four months we waited to find out the genetic truth about the new life growing in her womb. Daily we debated whether she could care for two HD people while working. We pondered an abortion. But the anguish gave way to our most joyous moment: our 'miracle baby' -- now 5 -- was free of the HD gene.

"Yet the mirror looms. My mom, today 68 and wheelchair-bound, cannot hug her granddaughter. When I call my parents, she just listens and barely ekes out 'I love you.' Because of her incontinence, my parents can no longer make the trip to visit us. Imagining herself pregnant, one day my mother took her feces to my dad and said she had given birth. In August, he finally had to put her in a nursing home. Death draws near as she loses her ability to swallow.

"Now 45, I agonize as I approach her age of onset. We put off having a second child and save to pay off our mortgage faster, preparing for the day when I will become disabled. I panic when I think of losing the ability to pursue my greatest passions, reading and writing. Will I see my daughter fall in love and go to college?

"Suicide would spare my family an exhausting, financially ruinous burden. I would not suffer like the HD patients I recently saw at a nursing home, writhing uncontrollably, wearing diapers, belted in a special chair or confined to a padded room. But a suicide would devastate my daughter.

"We shelter her, telling her that Grandma 'has a boo-boo on her brain.' Yet we may soon need to explain how HD will affect me."

I have held that same mirror up to my patients many times, and I know what his future holds. What he needs from me is hope -- no, more than that, what he needs is progress. He needs a glimpse beyond the genetic mirror. He needs to know the rest of what I know, that treatments for neurodegeneration are on the horizon.

Experimental research in HD began with the 1993 discovery of the gene responsible for the disease. This monumental breakthrough allowed scientists to create "laboratory models" of HD, by inserting the abnormal, slightly enlarged, gene into the eye of the fruit fly, the roundworm, the mouse or cells in test tubes. They could then design experiments to understand how the production of the abnormally elongated Huntington protein encoded by that gene causes HD.

Using these laboratory models, researchers have now begun to identify steps in the process of nerve cell degeneration. An enzyme called caspase cleaves the abnormal HD protein, and the fragments overwhelm the cell's natural garbage disposal, called the proteasome. Many cell processes begin to go awry as the proteins accumulate. The mitochondria, little engines inside the cells, suffer damage along the way. Eventually the abnormal proteins collect in blobs inside the cell. Scientists aren't sure at this point whether the blobs themselves do additional harm or whether they merely reflect a cell no longer able to carry out its usual functions.

Scientists are now scouring libraries of chemicals for compounds that block the formation of these protein blobs, enhance the function of the mitochondria or the proteasome, or block the caspase enzyme. Early trials of promising compounds are beginning in animals and even in humans. Some researchers are studying ways to block the defective HD gene from ever producing the abnormal HD protein in the first place, using a new technology called "RNA interference." Like chemotherapy for cancer, or the AIDS cocktail, a combination of therapies may one day successfully treat Huntington's.

As my friend knows all too well, it is possible to know in advance who will develop HD. We might therefore have the opportunity to try treatments for HD even before any symptoms become obvious -- just as we can treat breast cancer more successfully when it is a pea-size spot on a mammogram than after it has spread throughout the body. And a treatment that works for HD may also benefit people with much more common disorders such as Parkinson's disease and Alzheimer's disease, which share similar sorts of nerve cell degeneration. Since we do not now have a way to know in advance who will develop Parkinson's or Alzheimer's disease, HD research will likely pave the way for advances in these disorders.

It's only been 12 years since we identified the gene that allowed us to begin experimental research on HD, yet early clinical trials of treatments for HD have already started.

I can't promise that this will help my friend, who closed his story with the following reflection: "When my mother lovingly conceived me, she unknowingly passed on a defect that is now our shared destiny."

Unlike his mother's generation, though, my friend does not struggle alone. He and others who are confronting their diseases are pioneers who can help end the stigma and suffering associated with all degenerative neurological diseases.

Author's e-mail:

Martha Nance, a neurologist, is director of the Huntington's Disease Society of America Center of Excellence at Hennepin County Medical Center and medical director of the Struthers Parkinson's Center, both in Minneapolis, and a clinical associate professor at the University of Minnesota.

© 2005 The Washington Post Company

Tuesday, July 19, 2005

Planning for Mom's move to a nursing home

My family faces a moment almost as difficult as an impending death: My sister, my father, and I are about to make the wrenching decision to put my mother in a nursing home.

Mom has had HD for at least fifteen years, since she was in her early fifties. As a caregiver, my father has been saintly. However, she has declined rapidly over the past few years, losing the ability to talk and walk. Last year she broke her wrist during a fall, and earlier this year she suffered a large gash to her head after hitting a piece of furniture.

In just one day this past week she fell three times. Once again my dad had to call 911 for help in lifting her off the floor. She now has bruises on her chest and back. At 77 and suffering from a heart condition, Dad can no longer provide Mom with adequate care.

Over the past few weeks my family has experienced a whirlwind of plans and emotions. First my sister, Mom, and Dad met with a lawyer to prepare my parents' finances and legal matters for a Medicaid application. (I live in another state and could not attend the meeting.)

Nursing homes in their area cost more than $5,000 per month for a semi-private room. At that cost, my parents' savings will run out in a few months, leaving them no choice but to depend on public assistance. Before they can qualify for Medicaid, they must spend practically all of my mother’s savings and about half of my Dad's.

My sister and I have had emotionally draining phone calls about the legal, health, and logistical aspects of this big change in our lives. Just talking about HD reminds us of the disease’s threat to our families. Like me, my sister has a 50-50 chance of having inherited the disease from Mom, and she has three sons who could also be at risk. Mom’s departure will disrupt my parents’ lives and deeply sadden all of us. As I thought of my mother's illness, I saw our family's history pass before my eyes, from the time Mom used to smile at us children to the cruel cognitive loss that has stolen her ability to speak. I was gripped with anger, confusion, guilt, and doubt. How could this happen to my mother? Are we doing the right thing for her?

We have no experience with nursing homes and are learning as we go. The process feels utterly haphazard. There are so many variables involved, and each time we speak new ones arise. What's better, a big facility or a small one? What are the nurse-patient and aide-patient ratios? Do we put her in a private room, a semi-private one, or a quad? Which home would be most convenient for my father to drive to? What kind of physical therapy will be available? How will Mom interact with the other patients?

And the biggest questions of all: how familiar is the staff with HD, and will they be able to adapt to the unique disease profile that HD has characteristically produced in my mother? Will they be able to keep her from falling and injuring herself without having to strap her down or drug her? Most nursing homes do not have staff trained specifically for HD patients. In fact, some reject HD patients because of prejudice or the perceived difficulties in caring for them.

"If we were millionaires," I said to my sister, "we could build a special home for Mom and Dad with all the necessary protections for Mom, and we could hire around-the-clock help to make sure she didn't fall any more. But we are not millionaires. The only choice we have is to put her in a home."

The other night I cried as I realized that Mom's transition to a nursing home will leave an emptiness in all of our lives. I imagined her and my father separated for the first time. I thought of her being alone for many hours without anybody to love her. I felt a premonition of the shock I will experience when I visit her there for the first time. I wondered about the impact on my five-year-old daughter of seeing her grandma in a place with many old and disabled people.

And I remembered that I myself run the risk of ending up in the same lonely circumstances as Mom.

The hardest part of this decision is convincing Dad that the time has come to move Mom. He is dedicated and stubborn – and afraid. Whenever I broach the idea, he changes the subject. The weather, meals, his tomato plants, the birds and animals in his yard, the church bazaar – anything is easier to talk about than a nursing home.

A couple days ago I put the matter directly to my mother for the first time. HD makes it impossible for her to converse but she can listen, and I wanted her to start getting accustomed to the idea of living away from my father. As I said, I want them to have to a heart-to-heart conversation about this.

"It's not easy to do this after you've been in a good relationship with a person for almost fifty years," Dad said.

Our whole family is starting a new phase. The transition to the nursing home is just the start. We will have to be vigilant about her care. Each visit will generate new emotions. The most important thing we can do is to make Mom feel as comfortable as possible and to continue to show our love in the final years of her life.

Thursday, May 05, 2005

Preparing for a lonely day

One of my deepest fears about Huntington’s disease is knowing that there could come a day when my wife cannot take care of me. If I follow in my HD-stricken mother’s footsteps, I will need help starting in my mid-50s. My wife and I have had several conversations about this.

I want to stay home as long as possible. I don’t want to go into a nursing home or similar facility. I have seen HD patients in such conditions, and it frightens me to see how they receive so little attention or stimulation.

At one place I saw a woman belted to a special chair. She writhed uncontrollably. I wonder: “What kind of life is that?”

Other patients lived in cubicles. One had a padded floor on which the patient lay.

I am hoping that caregivers can be hired to take care of me at home. Our insurance would likely cover only part of the costs, so we’re saving to try to cover the difference. But this might be only during the day. Who will take care of me in the evenings?

My wife points out that she will not be able to work full time during the day and then take care of me during the evenings, when she will have to be managing the household and helping our daughter with schoolwork and other things.

The day my wife told me that I’d have to go to a care facility when home care was no longer possible, I felt abandoned and utterly lonely.

Sometimes I tell my wife that I prefer suicide to going into a nursing home. In fact, suicide rates among HD people are higher than average. In a notorious 2002 incident a Georgia mother shot her adult sons, who had advanced HD, to help them escape their misery.

I need to plan now, while I’m healthy, to make sure that I can stay at home as long as possible. I must find professional caregivers who know about HD.

That’s a difficult task, as my family has discovered with my mother. So few people know about HD, and many doctors have never seen a case of it. The lady who cares for my mother a few hours per week mainly bathes her, does her hair and nails, and helps clean the house. She has no HD-specific training and cannot give my mother the physical and psychological stimulation she needs. I am convinced that, if my mother had gotten better help a decade ago when the disease first struck, she would be better off today. Sadly, our health care system fails to train people to work with HD patients.

To me, life is action. I want to be cared for by people who will recognize the remnants of that impulse in me once HD has erased many of my faculties. Struggling with HD is not just about ameliorating symptoms. It’s also about building a support team that can preserve the patient’s humanity as much as possible.

Monday, April 25, 2005

The ups and downs of waiting for a cure

Waiting for news of an effective treatment or a cure is one of the most nerve-wracking aspects of living at risk for Huntington’s disease.

When I first learned of my mother’s illness in late 1995, optimism flowed in the HD community. Just two years before, scientists had discovered the HD gene. That monumental achievement made a simple and definitive test for HD possible. It also opened the door to new avenues of research. Within a few years, for instance, researchers identified the protein produced by the gene known as huntingtin.

I remember reading an article stating that it would take only a couple more years to begin human testing for a drug designed to stop the protein from plying its harmful effects on brain cells. My wife and I felt confident that a cure would come before my symptoms ever started.

In the ensuing years new discoveries came not on an annual basis, but almost on a monthly one. But as time went on, the predictions of a quick solution to HD disappeared. The disease and its causes were proving to be far more complex than anybody had imagined. Initial hypotheses were overturned. For example, scientists long believed that clumps found in the brain cells of HD patients were the main culprit in cell death. Most recently, however, researchers have demonstrated that those clumps actually protect the cells.

One of the most disheartening comments came in 2003, when an article in a Huntington’s Disease Society of America ( publication stated that a successful treatment was still a decade off. That statement angered me and others in my local HD community. Maybe something might arrive around the year 2012, but what about the many at-risk individuals (like me) who had been waiting so many years for the key breakthrough? I was now convinced that I would become ill before a treatment arrived.

It was about that time that I and others began paying attention to Huntington’s Disease Drug Works, an alternative organization ( HDDW does not deny the value of long-term research but also emphasizes a “treatment now” approach using existing medications and dietary supplements demonstrated to be safe in humans and effective in slowing HD in animals. But this is not the cure we have all been waiting for.

Scientists have now identified numerous substances that can arrest HD in test tubes or animal models. Several firms and researchers have done so by focusing on a way to stop the huntingtin protein. This approach was the “magic bullet,” the way to stop the disease before it could harm brain cells. But research is still a long way from getting those substances safely into the human brain.

Then in 2002 came a stunning discovery called RNA interference (RNAi), a naturally occurring process. Simply put, this technique can regulate and turn off harmful genes. Late last year scientists already began testing RNAi in human patients suffering from an eye condition called macular degeneration, a potential cause of blindness.

Just this month researchers at the University of Iowa used RNAi to reduce the levels of huntingtin in transgenic mice ill with HD (click here to read more). The levels of the toxic protein fell by about 40 percent, and the mice demonstrated nearly normal movement and less neurological damage.

Given these developments, it appears that a cure must come! But over the years, as I have swung between optimism and pessimism, I have come to appreciate the many nuances of the HD disease process and the intricacies involved in trying to stop it. I am encouraged, even electrified, when I read about such breathtaking developments as RNAi. But I am also sober after so much waiting.

And, at the end of the day, after doing all that I can to help raise awareness about HD, waiting is all I can do. Being at risk for HD, I am humbled, patient, and aware that my fate lies in the hands of those dedicated scientists putting in long hours in the lab.

And when I awake the next morning, I start thinking again about how to help raise funds to accelerate their progress.

Friday, March 25, 2005

Seeing Mom (Part II): a family's emotions

I previously wrote of the terrible difficulties resulting from the way Huntington’s disease has immobilized my mother. During my visit to my parents many other aspects of HD also came into play, producing strong emotional repercussions for the entire family.

A heart patient, my father will soon turn 78. The strain of caring for a person with HD puts him at increased risk for suffering a health crisis. My mother’s continued decline will only make the situation worse. My father is a stoic, but even he is moved to almost crying when my mother falls.

I was the one who ten years ago urged my father to take my mother to a specialist. It took him months to do so. That process led to her diagnosis with HD in 1995, just two years after the discovery of the HD gene made a definitive test for the disease possible. After my father’s emergency triple bypass operation in 1998 I forced him to consider getting part-time in-home help for my mother. After much angry protest at my perceived meddling, he agreed. This visit I once again took the lead by calling an emergency family meeting and getting my father to focus on obtaining additional help in the home or moving my mother to a nursing home.

I could tell that my mother’s worsening condition has softened his resistance: this time he did not protest what could be the biggest change in his life since their marriage in 1957.

The trip once again drove home for me that my mother’s fate could be my own. Looking at her is like looking into a genetic mirror. It is a chilling experience. I especially noticed that her chorea – uncontrollable movements – had worsened since I last saw her in January 2004. Because of my fears, I didn’t get too close to her. The only way I could be in the same room was to deny my own at-risk status and the deep fears associated with it.

As I returned home, I felt the added burden of taking on a new leadership role in the family. From a distance I will need to help with finding the best legal and medical help for my parents. I am inexperienced, and the task feels daunting. The prospect of my mother living alone deeply saddens me.

The visit brought an unexpected reunion with my sister, my only sibling, who had cut off contact with me because I insisted that our family deal more openly with Huntington’s disease and that she help more with my parents, who live nearby. After three years of silence between us I called her to join my father and me in the meeting about our mother. In contrast to our last conversation, which she ended by hanging up on me, my sister thanked me for helping to press my father about our mother’s health. The damage from our falling out may never be repaired, but we now at least have the potential for a businesslike relationship regarding our parents.

The most important, most touching moments involved my daughter’s perceptions of her grandmother. Now four-and-a-half, my daughter consciously hugged her grandparents for the first time. She had fun being with them, and I was happy to see the joy that she brought to them. One time I asked my mother to hug her granddaughter, and, in a gesture that can be considered nearly miraculous for a person at this stage of HD, she moved her hands and arms down and over my daughter’s back.

But more often than not, it was clear HD has devastated my mother’s mind and body. During meals, as I coaxed my rambunctious daughter to eat by spoon-feeding her, across the table my dad cut my mother’s food for her and spoon-fed her too. As my daughter was progressing towards greater social awareness and responsibility, my mother was regressing into a deeper dependence on those around her.

My daughter carefully observed the many ordeals that both her grandparents experienced as Grandpa helped Grandma with feeding, walking, and going to the bathroom. Later she asked about her grandmother’s illness, which I had described as a “boo-boo on Grandma’s brain.” I was deeply proud to hear my daughter’s intelligent inquiries, but I answered her slowly and with great measure.

“When did Grandma get a boo-boo on her brain?” she asked.

“She got it when she was born,” I replied.

“How did Grandma get a boo-boo on her brain?”

“Sometimes people are born with a boo-boo on their brain because things did not go right when they were still inside their mommies’ tummies.”

“Why didn’t Grandma get sick when she was younger?”

“Sometimes a boo-boo takes a long time to develop, to come out.”

“Grandma is going to die from the boo-boo, right? We need to pray so that Grandma gets better. When Grandma dies, there will just be Grandpa.”

“Yes, we need to pray for Grandma.”

“Mommy and Daddy won’t die for a long, long time!” she said to reassure herself.

Luckily, the moment has not yet arrived for my daughter to learn that I, too, am at risk for HD.

And, of course, there were my mother’s emotions. Nobody can know what she really feels and thinks, because HD has stolen her ability to converse. But deep inside her being she struggles to express her desire to be human. If someone smiles at her, she can still smile back. She can also get out some light chuckles. On close contact with my father or with me, my mother uttered one of the few phrases that she can still eke out: “I love you.” She said this about two dozen times during the four days that I was with her and my father.

I asked her, “What do you think of your granddaughter?” She was able to muster a response: “I like her.” For all the sadness and tension that this visit generated, I will at least have this memory of a grandmother admiring and loving her granddaughter.

Thursday, March 24, 2005

Seeing Mom (Part I): falling down

My mother cannot walk anymore.

That was one of the stark outcomes of Huntington’s disease that I witnessed during a four-day visit to my hometown to see her and my father.

When I visited in early 2004, she could still shuffle her way for a few yards. But this time my father had to help her with every step. Each movement was painfully deliberate and slow. Sometimes she used a walker, but it did not help much.

When my father, my four-year-old daughter, and I went to another room for just a minute, my mother got up from her chair. We heard her fall and rushed to check on her. My father nearly broke into tears in a fit of anger and frustration as he bent over her and asked why she had tried to leave the chair on her own. Silenced by HD, she could not explain. She wanted, of course, to be near us. A few seconds later she nearly fell again as my father maneuvered her to a couch.

The next day my father was helping her out the door of a restaurant. Her 160-pound body went twisting to the ground. My dad and I had to help her up and into the car.

The strength and coordination have completely left my mother’s legs, now flimsy as rubber. She can no longer stand on her own two legs, that most basic part of humanity. I had to help my father get my mother in and out of the car and in and out of her wheelchair. Every couple hours my father asked my mother if she needed to use the bathroom. My dad asked people to stand guard at the bathroom door while he and I guided her in, took off her coat, and positioned her in the stall. It took my mother a long time to understand that she should put her hands on the grab bars.

As I looked at my mother, I feared the terrible impact this scene was having on my daughter. I worried about my dad, who struggled to maintain his patience as he gave instructions to my mom in the way he might speak to a child. I was angry and horrified at her total dependence on others for the simplest tasks. She could not even do what a two-year-old could.

Last year my mother broke her wrist after a fall. A couple months ago my mother fell during the night and hit her head on a nightstand. With blood running from her scalp, my father called 9-1-1. At the emergency room she received seven metal staples.

All of this immobility and falling convinced me that next time my mother could die. I had planned this trip as a vacation for my daughter to see her grandparents. But it now took on a different character. I immediately called an emergency family meeting to discuss my mother’s situation. My sister and brother-in-law, who live nearby, and I gently but firmly told my father what was obvious for us but unthinkable for the man who has spent nearly a half century at her side: the time had come to hire full-time help or to put my mother in a nursing home.

The next few months will bring a huge transition in my parents’ lives. First will come the quest for help, so difficult to find because of the lack of awareness about HD and because so many nursing homes are believed to charge exorbitant fees without caring adequately for their clients. Then the financial burden will become enormous as my father, my sister, and I try to figure a way to pay thousands of dollars per month in fees. My mother does not have long-term health care insurance, and Medicaid will not be available until my parents spend a good chunk of their assets. Finally and most serious of all will be the emotional adjustments both of my parents will have to make, either to having strangers in their home or to living separately.

As I said good-bye to them, I realized that it would probably be the last time I would see my mother at home. I imagined seeing her bed-ridden in a cold, impersonal institution, living her final years alone, misunderstood and unloved, away from her husband and no longer able to talk to the son she bore with such affection. The next day the sadness and apprehension about my mother’s future caused me to have several dizzy spells. Huntington’s disease, which has been slowly killing my mother, was victimizing the rest of our family too.

Saturday, March 12, 2005

What is wrong with Grandma?

Because my mother has HD and is incontinent, she can no longer travel on an airplane to visit me and my family. So next week I’m taking my 4-year-old daughter to my home state to see her grandma.

This trip will not be easy.

My mom knows she has a granddaughter, but she cannot talk to her. She cannot play with her or take her to the park or teach her how to sew (an activity she thoroughly enjoyed in her better years). She cannot even hold or hug her.

When we saw my parents in January 2004, my mother spent a good part of the time in a wheelchair. As my daughter romped around the museum and arboretum we visited, my mother simply sat and looked into the distance with the sad stare that seems like a slumber she cannot awake from.

We had to plan our outings based on my mother’s immobility and inability to spend long periods away from home. Moreover, getting in and out of places can be a serious logistical challenge. At the museum my daughter seemed intrigued at the fact that Grandma had to ride a special elevator alongside the stairs. As my daughter watched silently, I wondered what kind of meaning this image was leaving on her impressionable mind.

My daughter has not yet been too inquisitive about my mother. Until now I have simply explained that “Grandma has a boo-boo on her brain.” She understands.

But lately my daughter has been asking big questions. “Why do we have policemen?” she asks. “Why are some people bad?” No longer a toddler, this time my daughter will want to interact more with her grandparents and learn about their lives. I am bracing myself for even more difficult questions about my mother such as “what is wrong with Grandma?” or “why does Grandpa have to feed Grandma?” or “why can’t Grandma play the game with us?”

I don’t want to alarm my daughter about HD, but I also don’t want to shelter her from it. Someday she will have to learn that her very own daddy is at risk for the disease. I’d rather gradually accustom her to the idea than spring it on her suddenly when she’s a teenager.

So as our trip approaches, I am preparing myself to have my first serious conversation with my daughter about HD. It will be particularly wrenching for me because whenever I see my mother, I see what my future could very likely hold for me. I am thankful that for now I won’t have to tell my daughter that her dad could follow in her grandmother’s steps. But I also know that her intelligent mind will continue to form new questions about her family and life. My hope for now is that she can bring some joy to a grandmother who can no longer express such a feeling. And I would like her to have good memories of this trip.

It’s all such a big lesson for such a little girl to learn. And it’s equally hard for her dad to think of how he’s going to help her with it.

Tuesday, March 01, 2005

HD's financial devastation

HD is not just a threat to my health. It colors practically every decision my wife and I make about our finances.

The other night an acquaintance who is a real estate agent suggested to me that we take advantage of the large amount of equity in our home to buy another property, travel, or do anything else that we’ve wanted to do for a long time. My wife and I are still pretty young and in the long run could handle the extra payments on another loan.

It all made sense, I told her, until you factor in my at-risk status. If I become ill in a few years, disability insurance will cover only part of my income, and then only until I reach my mid-60s. The enormous loss in income would put a triple burden on my wife: handling the mortgage in the present, saving more for retirement, and finding money to help pay for my care. In addition, she would be supporting our daughter throughout high school and college. We’re already spending extra money on added insurance to cover my expected illness. And we donate a sizeable amount to HD research each year.

So instead of spending more, each month we pay off an extra $500 of the mortgage principal. We’re thinking of increasing the payment by several hundred more. Our financial advisor, who doesn’t know about HD in our family, urges us to stay in the market for the long haul. But if the stock market rises again, we have vowed to put take the profits out to pay off as much of the mortgage as possible.

Our dream of buying a vacation home has remained just that – a dream. We take short, modest trips. We’ve scaled down our current project of home remodeling.

A couple years ago we turned down a chance to co-sign a loan on a very promising business venture because we feared losing our good credit rating. The more my risk for HD approaches the probability of symptoms, the less we expose ourselves to financial risk.

Whenever we think of money, the question inevitably rises: “What if HD kicks in?”

“If it weren’t for HD” is a regular part of our vocabulary.

HD is like a big “no!” that screams at us every time we think of being adventurous.

Before I learned about HD I had always imagined myself working until well into my 60s and maybe even into my 70s. Now I will consider myself lucky if I can reach age 55. That’s a decade or two of lost income – about a quarter of my working life.

HD is medically –and financially – devastating. We were fortunate enough to learn of my risk early enough to plan for the future. Even so, the consequences are not bright. For families with less warning about HD or with multiple members affected by the disease over one or more generations, financial ruin is a harsh possibility.

Monday, February 14, 2005

To go – or not to go – public

Should I go public with my at-risk status?

That’s a question I’ve thought a lot about since I discovered nine years ago that my mother had HD. The prospect of going public leaves me excited about the new ways in which I could help the quest for the cure, but it also makes me nervous about the many perils my family and I would face.

The other night my wife and I once again debated the pros and cons of my revealing my status. I always raise the topic and advocate my coming out.

I could give talks to local organizations such as Kiwanis that might be able to donate money or help the cause in some other way. I could write newspaper op-ed pieces in which I use my family’s experiences with HD to describe the disease’s horrors and its terrible social impact. I could openly invite acquaintances and friends to attend fund-raisers or to assist the campaign against HD in some other way. I could finally wear a “Cure HD” button for the whole world to see.

In short, I could do my small part to take HD out of the Dark Ages and give it the public prominence it needs and deserves. At last I could end the secrecy and be true to myself.

If and when I became sick, I would be able to look back on my efforts knowing that I struggled with every inch of my being.

My wife tends to see the broader implications of going public and urges caution and patience.

Do you want to give up your chances at career advancement so soon? she asks. What happens if you lose your job or if your employer uses your at-risk status to get rid of you? Will others interpret every tiny slip or miscue in public as the onset of symptoms? What happens if we lose our insurance and I am excluded from a new plan? A public declaration of my at-risk status will tinge every decision others will make about me.

My wife asks: will I be able to live with unmet expectations of going public? Most of our friends and acquaintances will at first show sympathy, but then how will I feel if they don’t have the time or money to support the cause? What if my hopes for increasing donations do not materialize? Could the excitement and promise of going public later lead to depression?

And what about the impact of going public on my daughter? Insurers will want her to get tested. Employers might balk at hiring someone potentially at risk. There are numerous other ramifications as yet unimaginable.

I am always left in a quandary after these discussions.

I insist to my wife: if not now, then when should I finally go public? We have been dealing with HD for nearly ten years. As my potential age of onset approaches, the urgency of a treatment increases. I want to be able to fight for one while I still have all of my faculties.

You’ll know when the time comes, she says.

Like the onset of HD itself, that moment is inevitable but can never be precisely known. Just as we have faced HD together from the start, the decision to go public will ultimately be one based on what is best for the family as a whole.

Saturday, February 12, 2005

At risk, but not alone

It’s hard to be optimistic when writing about Huntington’s disease. The immense suffering and stress caused by this malady weigh heavily in the lives of at-risk individuals and their families. But sometimes a ray of hope brightens my day.

The other night I left a meeting of HD activists touched and energized by the commitment of the numerous people who attended.

When I arrived, a group was wrapping up a discussion about a local fund-raiser. I could feel the excitement as these people put the final touches on an event months in the making and already guaranteed to bring in thousands of dollars for HD research.

I took part in a second session about other fund-raisers and other HD-related issues. Although everybody around the table had put in a long day at their regular jobs, we worked late into the evening with the liveliness of the morning hours.

This group puts on a half dozen events every year. Each requires attention to hundreds of details, networking throughout the community, and finding fresh ideas for attracting the public and donors. The smooth and timely execution of these events and the teamwork involved rival much of what I have witnessed in both the non-profit and business worlds.

All of this comes on top of the group’s array of other activities such as sponsoring a HD support group and educating the public about the disease.

The most impressive fact is that everybody is a volunteer.

But my admiration doesn’t end there. Some of the volunteers have family members affected by HD. They live the triple burden of breadwinner, householder, and caregiver. I am relatively lucky: I still have my health and can work and help my wife with managing the home.

Many members of the group have no connection to Huntington’s disease. Some of these not only work full-time but also have families and significant commitments to church and other activities. These individuals truly sympathize with the plight of families affected by HD and are drawn to the challenge of conquering a seemingly insurmountable disease.

As one activist put it, there is something special about being part of a grass-roots effort to stop a devastatingly cruel disease that doesn’t get the same amount of dollars and publicity that so many other diseases receive.

Many nights I lay down distraught about HD. I would prefer another life. But facing HD has also revealed a world of caring and dedicated people. I am at risk, but I am not alone.

Thursday, February 03, 2005

Giving up my dreams

Huntington’s disease hits people in their prime. Knowing that the genetic defect is harming my brain and that I need to prepare for the day symptoms will strike, I have sadly relinquished many dreams.

One of the most difficult to let go is my career. Considering the pressures, I still turn in a solid performance at work. But I no longer have the energy or the time to strive for the top of my field. Like most professionals of my generation, I grew up desiring success and recognition. But as my life has become dominated by the drive for the cure and the need to take care of my health, my professional ambitions have waned. A wonderfully fulfilling part of me has disappeared for good.

The time I used to put in at night for my job I now spend reading on HD.

Professional gatherings are tough to attend, because I resent successful colleagues who advance without the burden I carry. I always rush home early to spend time on HD issues or with my family.

I only apply for jobs that are near adequate care facilities for HD people. Every application turns into an excruciating discussion with my wife about a move’s impact on our planning for HD.

I sometimes think that moving ahead professionally will somehow help me in the cause to stop HD. But I’m probably deluding myself.

More often I tell myself that career is irrelevant without good health. Better to spend time exercising, resting, and eating well than worrying about a better job.

The threat of HD has changed me for good. Even if the cure comes before I fall ill, I will have lost a large chunk of my life wondering about HD.

I used to define myself as a seeker of success. But HD has killed my passion for work. Now I am mainly a person living at risk.

Thursday, January 27, 2005

Overcoming HD's tyranny of time

It’s been more than two weeks since I’ve written here. The reason I’ve taken so long to return is, quite simply, time.

After death, time is the thought that most frequently comes to my mind when I’m worrying about HD.

How much time do I have before HD strikes?

Will I have enough time to accomplish all that I had planned for my life?

How can I manage my time more efficiently to get all that I want out of life? And how do I prevent the striving for efficiency from tyrannizing my life?

How do I balance the many commitments that demand my time – commitments compounded by volunteering in the campaign against Huntington’s and writing here?

Last Saturday night my family and I went to a dinner party. It was supposed to be a relaxing evening, but all I could think about was leaving early so that I could get to my HD volunteer activity.

This hyper-awareness of time often saps the joy out of my life.

What terrible decisions I often have to make! Should I play with my daughter or do something to save my life, like volunteer work or extra exercise or writing about HD?

I occasionally used to ask myself: what do I want to look back on when I’m on my deathbed? It’s a question that I now ask myself more often to help me put things in perspective and use my time more wisely.

Wisdom, I’m discovering, does not necessarily mean greater efficiency. In the process I’m starting to learn to give up things that I’ve held dearly for so long. For years I’ve strived to be at the top of my profession. But as I become more deeply involved with the fight against HD, I see that work is no longer so important. (Read more on HD and career in another entry to be posted here soon.)

I’m also struggling to learn how to enjoy the moment.

I must learn that time is not my master.

As a Vietnamese Buddhist put it so well, all time is our time if we choose to see it that way. Whatever we are doing at any particular moment is our own experience, whether it be some great and courageous action in the fight against disease or something as simple as helping my daughter learn to brush her teeth.

I look forward to a time when HD will be conquered. I hope it comes in my lifetime. I would love to experience once again the freedom of not thinking so much about time.

Tuesday, January 11, 2005

Learning about HD

This blog is mainly to be a chronicle about my experiences in living at risk for HD, and a place for people to share their thoughts about their own at-risk status.

In the coming months you will come to read in great detail about the ways in which HD affects the lives of individuals and their families.

If you are interested in learning about other aspects of HD, such as basic and medical research, advocacy issues, self-help guidance, and ways to donate towards finding the cure, you can visit the following sites:

An excellent source of daily news about HD is Dave's blog at This was the first HD blog to appear on the internet. (A special thanks goes to Dave for being the first site to mention my blog.)

One of the most comprehensive sites about HD is at

A good listing of resources for dealing with all aspects of HD is available at the website run by Jean Miller,

To learn more about advocacy issues, personal testimonies, and research, visit

There are four organizations in the U.S. dedicated to finding treatments and a cure for HD. You can visit them at:,,, and

Another very helpful site is at

This list is by no means comprehensive. There are many local organizations and individuals with sites dealing with HD. You can find them by searching I hope to list more sites in the near future.

Monday, January 10, 2005

Huntington's disease: an early date with mortality

My name is Gene Veritas and I am at risk for Huntington’s disease.

I have been thinking of starting this blog for some time. Something happened last Friday evening, January 7, 2005, that helped me put things in perspective and finally pushed me into sharing my story with the world.

I was having a beer with an old friend who happened to be attending the same professional convention as I. We go back twenty-five years and hadn’t seen each other in more than a year. We talked about writing and publishing, our passions. We had only thirty minutes to talk, because I had to catch a plane back home so that I could get in some volunteer work in the campaign to stop Huntington’s disease.

Our conversation quickly turned to HD. My friend wanted to know how my health was. I explained that I had just started taking a dietary supplement that is part of a new “treatment now” HD program that aims to cut through the bureaucracy and lethargy of other HD organizations. I told my friend that I would be taking additional supplements, all over-the-counter or FDA-approved, in the coming months, including creatine, for which I will have to get blood tests to make sure it doesn’t damage my liver or kidneys. Just thinking about this scares me, but I feel I have no choice.

My friend wanted to know what my psychological reactions to living at risk for HD. He especially wanted to know if I was angry.

No, I am not angry, I told him. It’s been nine years this December 26 that I learned of my mother’s diagnosis with HD. I have come to accept HD as part of my life.

I think a lot about death, I continued. I don’t know exactly when HD will strike. It could be as early as in the next five years, or it could take twenty years. I’m trying to squeeze as much life into my days as possible before I starting living life as a “vegetable,” I said.

“I envy you,” my friend said. “I feel immortal. I don’t believe I’m going to die. But you know you’re going to die, and so you can live your life more fully.”

The conversation shifted to God. My friend is a non-believer. Recently my wife, my daughter, and I resumed attending church. It is one of the supports we feel we need to get through our daily struggle with the impending onset of HD in our lives.

I rarely have the kind of conversation that I had with my friend, not even at HD support group. It hit me how fast the nine years living at risk for HD have gone by and how profoundly it has affected my life and the life of my family. I’ve thought a lot about death in the last nine years – so much, in fact, that I am now almost calm about it.

My finger twitched the other day and I showed my wife. Was it HD? We don’t know. I was only happy that it was not painful. If this is HD, I can take it, I told myself.

But will I be able to take the cognitive loss that afflicts all HD people? I have an accepting attitude now, while I’m healthy, but how will it feel when I can’t write or publish or stand at the bar with a friend and have a beer anymore?