Handling the news

Angela F., author of the blog A Survivor’s Guide to Huntington’s Disease?, learned on November 8 that she had tested positive for the genetic defect that causes Huntington’s disease. She asked me: “I am curious about how you coped when you got your results. How did you pull yourself back together to get on with life again?” Angela was especially upset – as I was – that her geneticist had told her she could do “nothing” to avoid the onset of HD.

I had to face the news of Huntington’s disease tests three times in just a little more than four years.

First, on the day after Christmas in 1995, I learned the explanation for my mother’s decline: a positive test for HD. (Ever since then, the holidays bring the stark reminder of how the threat of this disease has penetrated into every part of our lives and all of our discussions about the future.) The news came as a complete shock – especially because I learned that I had a 50-50 chance of inheriting HD.

Like many people, I had no knowledge of Huntington’s disease. I immediately called my mother’s geneticist back in my hometown to get more information.

Considering the news

I told him that I wanted to get tested immediately. But he cautioned me to take my time and to consider all of the consequences, including the danger of being denied insurance coverage. I contacted the head of the local chapter of the Huntington’s Disease Society of America (HDSA), a woman whose mother also had HD. She further counseled against a rash decision about the test. I began researching HD, especially the news of potential treatments, and I attended the next HDSA support group meeting, where I met other people at risk and, for the first time in my life, saw a group of individuals severely affected by the disease.

For the next three and a half years, I attended as many support group meetings as possible. I heard one scientist give a presentation on coenzyme Q-10, a supplement thought to be potentially effective against HD, and I started taking it. I listened to at-risk people tell of their wrenching decisions to test or not to test. I volunteered for the local chapter of HDSA, helping at fundraising events and dedicating increasing amounts of time to other activities.

This was my rational side in action. It was my way of fighting back and answering that inner voice that kept telling me, “You must do something!”

Emotions take over

However, as much as I unconsciously tried to cover them up, my emotions began to take over. A complex mixture of overwhelming fear and powerful denial regulated my life in the first few years after learning about HD.

On the one hand, I felt my life changing forever because of the possible onslaught of dementia and chorea, the shaking movements of HD. One night not long after the news about my mother, my wife and I lay in bed discussing HD. She held me tighter than ever before.

On the other hand, I became reckless in my pursuit of professional success and pleasure. Over a year, I took a big professional risk by focusing on a project that would bring me more immediate satisfaction and a shot at glory. That project kept me from confronting HD more seriously. I devoted very little time and effort to other parts of my life, including my relationship with my wife. My passion for life ran wild, but often in the wrong direction. Instead of solidifying what was most important in my life, I tried to escape into dreams of grandiosity. Because HD loomed as a specter in my life, I wanted to pack in as many experiences as I could before falling ill.

Throughout this period I put the question of testing for HD in the background. At the HDSA support group and from my readings, I learned that ignorance could be bliss. Living without the knowledge of my status was better than having to face the rest of my life knowing that I would die a long and horrible death caused by HD. I preferred not to play the 50-50 odds that I might have the genetic defect. After all, there was no cure or treatment for HD, so why suffer beforehand?

Facing the inevitable

I probably would have remained untested if it were not for the growing pressure from my wife to have a baby. Because of our careers we had not seriously talked of children in the early years of our marriage. But in 1998 and 1999, after the new stresses of my at-risk status had complicated our relationship and further caused us to delay having children, she gave me an ultimatum: have a child or end the marriage.

Agreeing to have a child was like a cold shower of reality. My at-risk status meant that our child could inherit HD from me. We absolutely wanted to avoid this, because we did not think we could withstand the pain of raising a child at risk for this horrible disease.

It was an especially gruesome possibility because of a particular twist in the genetics of HD: in the process of conception a man, unlike a woman, can pass on a worse version of the genetic defect to the child than he himself has.

Because of this, in some HD families the children actually get the disease much earlier than the age of onset of their fathers. My wife stated unequivocally that she did not want to care for both a husband and a child stricken with Huntington’s disease.

Wanting to conceive

We began to steel ourselves for the possibilities. One was preimplantation genetic diagnosis (PGD), a new procedure in which an embryo is tested for HD in a test tube and is then implanted in the womb. PGD would have allowed us to have a baby without HD and, if I wished, I could avoid knowing whether I actually had the defect.

However, to obtain PGD we would have had to spend many weeks in distant Washington, D.C. and far more money than we could afford: $100,000. (PGD has since dropped to about one-tenth of that cost and is now available in other parts of the country.) PGD was out of the question, and there was no guarantee the embryo would develop successfully.

Another option involved testing the fetus in the womb. If the baby did not have HD, I could still continue with the ignorance of my own status. However, if it did have HD, I would know for sure that I too would get the disease.

The third option was logistically the simplest and cheapest, but emotionally the hardest: I could get the test before we checked the fetus. If I tested negative, we could forget about Huntington’s ever affecting our own family. However, if I tested positive, we would immediately have to deal with my results and prepare to test the fetus in the womb.

A tough choice

I decided on the third option. I was 39 and felt life passing quickly, and if I were ever to become a father, it would be then and with my wife. I also tapped into a reserve of bravery and stoicism that I inherited from my father. (He ultimately cared for my mother every day for more than ten years before she died on February 13 of this year.) And so I began preparing for the news of a second Huntington’s disease test.

It was the spring of 1999. A sense of calm and resoluteness overtook me. Most people go through counseling and a specific protocol for getting tested, but I skipped parts of this process. I had my own very effective therapist and, with my experience at the HDSA chapter support group, was already familiar with the issues involved in testing.

We also had a very intelligent, level-headed, experienced, and compassionate geneticist who carefully explained all of the details of the testing process and patiently answered all of our questions. Looking back on it, I think I handled quite well the weeks preceding my test results.

Gathering for the results

The day of the results began like any other, but as we approached the hour its momentousness weighed like a millstone around our necks. My wife, who was my official support person, and I drove to the office where we were to receive the results. We tried to keep an upbeat attitude until the very last minute. She and I sat together on one side of the table, holding hands on the table, while the geneticist and a counselor sat on the other side. My wife was convinced that I would test negative. One of my best friends thought so too. We were looking forward to a celebration and getting on with our lives.

The geneticist this day was very businesslike, objective, and maybe even detached. His job could be very unpleasant, this revealing of a person’s future in few sentences, as if he were reading someone’s palm or tarot cards. He needed to be professional and to maintain a respectful distance. He stated that we were gathered to receive the results of my test. Without pause he began to read the results rather quickly and without hint as to what the results would be.

In Huntington’s disease everything hinges on the number of CAG repeats that a person has on the gene called huntingtin. (CAG repeats refer to the sequence of three nucleotide bases – cytosine, adenine, and guanine, building blocks of DNA – on the DNA molecule.) Everybody has this gene, but it usually has only 20 or fewer CAG repeats. My mother had twice as many, and that is what caused her to start having symptoms of HD in her late forties.

When the geneticist read the results for the first allele (an alternate form of a gene, for example, alleles for eye color, hair color, etc.), which came from my father, it was in the normal range. I gained a great sense of expectation, and I could sense that my wife was beginning to let out a sigh of relief.

All we needed to hear was the number “20” one more time.

The reading for the second allele, which came from my mother, was …

…

40.

Everything changes

40. It is a number stamped in our memories and in every cell of my body, slowly but surely wreaking havoc in my brain cells and leading to the moment when I will become like my mother.

40. It’s part of the primer we give to people unfamiliar with HD.

40. It’s like a code for everything my wife and I have discussed and suffered over the past eleven years of dealing with HD.

40. Would the child we wanted also have to live with this number, or, because I was a man, an even higher one?

40. I was almost at that age, the prime of a typical adulthood, but mine was not to be that.

After hearing the results, we were speechless and suddenly drained of energy. It reminds me of the day my childhood best friend died in a car accident just days before his high school graduation. I collapsed in a chair and cried.

On that day in 1999, we were clearly shaken. I am a very careful driver, but as I pulled our new car out of the space in the parking garage, I unintentionally scraped the right front fender against a column. My wife became scared. We had just learned that I could die of a debilitating brain disease, and here, out of fear and anxiety, I was already acting erratically.

But we did not cry. We remained determined to move ahead with our lives and our plans to start a family.

Moving forward

The geneticist had helped a lot by leaving us with words he would repeat on other occasions: “a positive test is not a diagnosis for the disease.” I was gene-positive, but I did not yet have any noticeable symptoms. That phrase has often given me hope in moments of fear.

For the next few weeks we solemnly went on with our lives. Like a shaman trying to preserve the life of a patient, my wife filmed me as I spoke about the test results, my fears, and my hopes for the future.

My positive result required us to think about a third HD test. My wife was already pregnant, so we began to make plans for testing the fetus in the womb. In July, however, she had a miscarriage. It was a devastating experience, especially for her, but I have always looked back on it as possibly a fortunate one, because I suspect that baby was positive for HD.

By October of 1999 my wife was pregnant again. We met with the geneticist once again to map out a strategy for testing the fetus.

It was a very complex affair. For fear of losing health coverage in the future or jeopardizing the purchase of other types of insurance, we had not mentioned HD to representatives of my health plan.

A tragic irony

This is one of the great and tragic ironies of living at risk for a devastating brain disease. The insurance one pays for often cannot be used because of the deep fear and very real possibility of suffering discrimination.

Our geneticist worked with the local Huntington’s disease clinic but not our health plan. My HD test was done anonymously at that clinic. But the HD clinic could not conduct the amniocentesis necessary for drawing the genetic material to be used for testing our baby for HD. Luckily, two things worked in our favor. The geneticist had a contact at the health plan, and that person arranged for my wife to have a standard amniocentesis done to check for Down’s syndrome. The lab that tested for this happened to be the same lab where the geneticist worked and tested genetic material for HD, so when the sample came over for Down’s syndrome screening, the geneticist also prepared to test it for HD. The health plan would get the Down’s syndrome results, which were negative, but only we and the geneticist would learn the results of the HD test.

Working around the health bureaucracy was a harrowing experience, but nearly as much as what we now faced. My wife was already sixteen weeks into the pregnancy when the amniocentesis was performed. The HD test, however, would take place only several weeks later, after the lab had been able to grow the genetic material sufficiently so that a reading for Huntington’s disease could be obtained. The results would come when the pregnancy was already nearing the fifth month.

Facing abortion

And what would we do if our little daughter-to-be were positive?

My wife and I had started debating this question even before I received my test results. During the pregnancy it paralyzed her emotionally, because she could not fully commit to a baby whom we might abort because of a positive test for HD. Every night as I put my hand on my wife’s stomach and talked with her about the new life growing inside of her, a wave of fear and uncertainty overtook us.

We are both Catholic and do not like abortion, but we also believe in a family’s right to choose. My wife insisted again that she did not want to take care of two HD patients. If the baby tested positive, she wanted to have an abortion. I understood her concerns but wanted us to await the results first.

My result of 40 CAG repeats once again impinged on our lives. I argued that if the baby had 40 repeats like me, we should go ahead with the pregnancy. Why should we deny life to a child who would probably live as long as I had, then 39, without symptoms? Surely, I argued, treatments or even a cure would be found by the time she grew up.

But my 40 could become our daughter’s 41 or more. With each additional repeat, the likelihood of an earlier onset and a harsher version of the disease increased. For weeks we debated what number would become our maximum tolerance of risk. I would accept anything in the low forties, which was the likely outcome. But my wife kept worrying about the doubt that would exist about our daughter’s health.

The horrifying thoughts of the abortion itself traumatized us more than anything else. The middle of the second trimester was awfully close to viability. My wife would have to undergo an operation and spend at least one night in the hospital. We knew this experience would scar us for the rest of our lives, and maybe for eternity.

Living with uncertainty

We continued our lives as best we could, but HD once again dampened our holiday spirit. Each night my wife and I held hands in bed, and I kept my other hand over her growing belly. Very soon we expected the baby to start kicking.

To get my results we had traveled to the HD clinic. This time we wanted to be alone at home, so the geneticist agreed to call us on the phone with the results.

He called on the evening of January 28, 2000. I got on the phone in one room, and my wife got on the extension in the other room. This time I noticed his voice was more upbeat, offering a sense of anticipation.

“Your child has tested negative,” he said.

I thanked him more enthusiastically then I had ever thanked anybody before.

It is no wonder that each year we send him a family Christmas card.

As soon as we got off the phone, my wife and I fell into each other’s arms on the couch and cried with relief. Aside from the day of our daughter’s birth, it was the happiest moment of our lives.

She became our “miracle baby.” I would someday fall victim to HD, but she would not, forever wiping HD’s horrible legacy from our family tree. Now each day, as I watch her grow, I delight in my daughter. If I ever think about her and HD in the same context, it is not about her suffering, but about her seeing me become like her grandma.

Maintaining a positive attitude

To answer Angela F.’s question, there’s a lot we have done to pull our lives back together after Huntington’s disease entered the picture, and the stories I’ve related are just a part of it.

It is not true that there is nothing to be done. Every moment is a challenge. Big decisions are frequent. Along the way we have taken control over our lives as much as possible. HD is there, but at least we know our enemy and can try to fight it through activism, research, and maintaining a positive attitude.