Sunday, December 18, 2011

Kate's untested baby (Huntington’s disease and abortion – Part II)

Kate Sandbulte, a 20-year-old woman who lives in Iowa, long lived life to the fullest.

Her mother, Tara Hansen, recalled that Kate was “was always doing ten different things at one time.” For example, as Tara has written, Kate was a “very fast learner and was able to capture the hearts of anyone who crossed her path. She learned to walk at nine months of age and was speaking in full sentences by the time she was a year old. She grew into a feisty little girl.... She was very smart and was often found to be a peacemaker and could be found defending anyone who was hurt or sad” (click here to read more).

Kate loved painting, played basketball and the clarinet in junior high, and adored the 1960s, from Janis Joplin and heavy metal to peasant blouses and flare jeans. She helped raise three half-brothers.

“She’s always been the kind of kid who can roll with the punches,” Tara added with pride. “She never gets too upset about anything.”

Two big blows

However, Kate has faced some of the biggest blows that life could possibly level. For the past five years, Kate has had juvenile Huntington’s disease. Now she is pregnant with an unexpected child, who has a 50% chance of being gene-positive.

Although Kate could test the first trimester fetus for HD, she has decided not to. She plans to have her baby, even though both she and the child might not live beyond their mid-30s, and she and the baby’s father do not plan to marry. Fortunately, Kate can rely on her mother, who’s still in her 30s and has pledged to do all she can to take care of Kate and the child.

“She was on two forms of birth control, and it was not planned,” Tara told me in a Facebook message after I had seen her November 26 post announcing Kate’s pregnancy. “She always said that if she had HD, she didn’t want a baby because of the chance of passing it on. She cried for a week after reading the pregnancy test. She worried just as any mom would about the baby’s health and the effects of the (HD) meds she was on.”

“But then she saw the heartbeat of the baby,” Tara continued. “She cried tears of joy and is now taking better care of herself and now has hope for her baby. She said, ‘Perhaps this child can offer you comfort when I am gone, Mom.’ She knows God gives life for a reason. And no matter what – HD or not – this child will be loved, just as she is.”

Kate (left) and Tara at the HDSA national convention in Minneapolis in June (family photo)

Personal thoughts

Kate’s decision to risk passing on juvenile HD represents the other side of the coin of the wrenching decision made by the Wright family of Florida to abort their gene-positive, premature infant son and donate his brain for research towards treatments and a cure.

The first of this two-part series on HD and abortion – my article on Christina, Michael, and Timothy John Wright – provoked the most heated reaction by readers since the blog’s inception some seven years ago. (Click here to read the article and reader comments.)

Both families cited deep religious convictions as guideposts for their decisions. The Wrights are Catholic, and Kate and her family belong to a non-denominational Christian church that stresses love and the equality of all people.

As I interviewed and wrote about the two families, it stirred difficult memories of my wife’s and my decision to test our daughter in the womb in the winter of 1999-2000, just six months after I had tested positive. Luckily, our “miracle baby” tested negative. She is a thriving sixth grader now applying to college-prep schools.

I told the Wrights that I supported their decision.

I also support Kate’s decision. During my phone interview with Tara, I congratulated her and her family on the pregnancy and expressed my wishes for a healthy baby.

Kate can still talk but preferred that her mother answer my questions. HD has already compromised her ability to communicate clearly, Tara said. “I’m kind of like her safety net,” she added.

Along with the rest of the HD community, I sincerely hope Kate’s child is HD-free.

“Both stories need to be told,” Tara said. “They bring up a lot that people don’t want to talk about.”

Rejecting rigid views

My support for both families may appear contradictory to some with rigid or black-and-white views, but, as I pointed out in the previous article, “the disabling, ultimately deadly nature of HD further complicates” decision-making. As my wife put it, “Nobody knows for sure until they’re actually faced with the decision.”

Indeed, all of our stories reveal the tragedy of HD and touch on larger controversies about abortion, suicide, and mercy killing.

One participant in the debate over the Wrights subsequently recalled on Facebook the case of Carol Carr, a Georgia woman who in 2002 shot dead two sons who had been confined to a nursing home with late-stage HD. She was convicted of assisted suicide and released on parole two years later. (You can view a documentary about the Carr case by clicking here.) The Facebook commentator seemed to become less rigid in her critical view of the Wrights.

Dead at 33

Living in a small town, Tara and her ex-husband Jeff Sandbulte had Kate when they were, respectively, just 18 and 16. Jeff had told her that his parents had died. In reality, Jeff’s father was already in a nursing home with HD, Tara said. He would eventually die in his forties.

Jeff also had juvenile HD. “We started dating,” Tara said. “I got pregnant with Katelyn. I didn’t know a whole lot about the disease. I had never even heard of it.”

Tara didn’t perceive Jeff’s symptoms at the time, but in hindsight she now understands that he clearly had HD. “Knowing what I (now) know about HD, yes, he did show signs, like lack of impulse control, losing weight, sleeping a lot, and loss of temper,” she said.

Jeff and Tara married in 1993, but the relationship became rocky, and she left him a year later. According to Tara, Jeff went to prison for a number of years and had virtually no contact with Kate and Mikey, the couple’s second child. Mikey, in fact, only saw his dad once. The couple officially divorced in 1996.

In 2000 Tara, a veterinary technician, remarried to Mike Hansen, a cement truck driver. They have three children together, six-year old Landon, five-year-old Shawn, who has Asperger’s syndrome, and four-year-old, Gabe, who was premature but is now thriving. Tara also suffered a miscarriage of twins in 2007.

Jeff died in 2006 at the age of 33. Other members of the extended family have also fallen victim to HD, including a deceased cousin of Kate whose symptoms started at 14 and another cousin, now 30, who resides in a nursing home.

Struggling with risk

More than Kate, Mikey grew up worrying about HD, because of his biological father’s situation. She showed more concern for him than for herself.

“She was very supportive of him as he was going through it,” Tara said. “Her deepest fear was that Mikey would have it. He was sure he had it because his biological father had it.”

Even Mikey’s doctors thought they saw signs of the disease. (Untested, at-risk people often act out symptoms, as do gene-positive, asymptomatic people like me.)

Perhaps because he saw his future compromised, Mikey hung out with people who were bad influences and letting his grades slip. After he became addicted to pain killers, Mikey had to enter a treatment program, Tara said.

An HD-free brother

HD testing centers usually advise against testing minors for HD because of the severe psychological impact of the potentially devastating information. However, in Mikey’s case, the family decided to test him in July 2009, when he was 16, because the prospect of HD had subjected him to enormous psychological pressures.

However, the medical profession has not fully grappled with the need to provide genetic testing information with sensitivity and competence. As I pointed out in the previous article, the Wrights received their baby’s test results in an unprofessional manner. Mikey suffered a similar fate.

A staffer from the doctor’s office called the family and asked for “Mike,” not identifying him by his last name. But it was not Mikey Sandbulte who answered the phone, but Mike Hansen. He was abruptly told his test results were “negative. If you have any questions, please call.” The staffer then hung up.

“They didn’t even make sure they had the right person on the line,” Tara said with indignation, noting that the proper procedure would have involved visiting the testing center and meeting with a geneticist and social worker so that the information – even happy information like a negative test – could be processed in person. The social worker became “irate” when she learned what happened, Tara added.

Luckily, Mikey was still at the drug rehab clinic. The family took his girlfriend Andrea to the clinic so that she could break the good news.

“He hit the ground on his knees and kept saying, ‘Oh, my God!’ He said, ‘I can’t believe it.’ It was like this big weight lifted off his shoulders. His whole demeanor changed – everything.”

Today, free of the spectre of HD, Mikey not only went through rehab successfully but has remained drug-free.

Kate’s onset

Like her brother, Kate also showed symptoms starting at the age of 15. In her case, she wasn’t acting out.

“That’s when her personality changed,” said Tara. “When she turned 16, she went through a terrible weight loss. She was at 130, and she went down to 98 pounds in a three-month period. We as parents are thinking, ‘She has an eating disorder.’ She would eat all the time.”

Her family also noticed periodic tremors in her hands.

HD patients typically lose weight, as did Kate. Scientists suspect the cause stems from energy shortages in the body’s cells caused by the defective huntingtin gene, as well as chorea, the constant shaking and dancelike movements most patients develop.

Kate (family photo)

Kate struggled in high school and ended up attending an alternative school. She had difficulty remembering things, too. “Hindsight is 20-20,” Tara recalled, “but at the time we thought Kate was just an airhead.”

“I look back now and I can remember struggling in school and being angry that I could not ‘get it,’” Kate wrote in her blog. “We had meetings with my teachers and I would tell everyone I was trying. I was sleeping a lot and skipping school. I was trying but for some reason it just would not stay with me. I know I was mad about that. I got mad at Mom and Dad for not understanding. Up to this point I had been an honor role student in all but math.”

Still the same person

Just a few months after Mikey’s genetic test, Kate and her family braced themselves for another test.

In October 2009, at the age of 18, Kate received her results, which confirmed the symptoms she had been showing and pointed to an ominous fate. Whereas a normal huntingtin gene has only ten to 29 CAG repeats, Kate’s has 57, a number that most surely will doom her to an early death like her father, grandfather, and other relatives.

However, Kate took the test result in stride.

“‘Hmm. Thanks.’ That is all she said,” Tara recalled. “She said, ‘It doesn’t change anything. I’m still the same person I was yesterday.’ She was working part-time at a local gas station. She went into work. She said that her test had come back positive. They said to take off and go home to be with her family.”

As for the family’s reaction, “we followed Kate’s philosophy,” Tara added.

Experiencing life

It wasn’t that easy, however. Two weeks after her test, Kate lost her job because of her difficulties with memory.

Despite the progression of the disease, Kate graduated from high school.

“She walked across the stage and got her diploma,” Tara said with pride.

After high school, the family helped Kate move into her own apartment so that, in Tara’s words, she could “experience life the best she could” before the symptoms worsened. To avoid the chance of an accident resulting from the loss of coordination typical in HD, Kate started driving less. Yet she still enjoyed being a “typical young adult,” spending time with friends.

Shawn (left), Gabe, and Kate (family photo)

Kate and her family then moved into another home equipped with features that would facilitate future caregiving needs, including a large bathroom and wheelchair accessibility.

With the help of Iowa’s Center of Excellence for Family Services and Research of the Huntington’s Disease Society of America (HDSA), the family obtained Social Security disability benefits for Kate. She now receives a monthly payment of $426. Medicare and Medicaid cover her medical bills.

Failed birth control

At a town celebration, Kate met a 29-year-old man named Billy. They started dating.

“The average person wouldn’t know that she’s disabled,” Tara said, explaining how it was natural for Kate to relate to men. “She has chorea and twitches, and she’s terribly forgetful. Other than that, she’s just a typical 20-year-old kid.”

To avoid pregnancy, Kate took Depo-Provera, a birth-control shot. She also took a low dose of a birth control pill in order to help reduce cramping and regulate her menstrual cycle.

Then both Kate and her mother took note of a missed period.

“I pulled into Walgreen’s and got a pregnancy test as a joke,” said Tara. “I didn’t think she was going to take it. She came out of the bathroom. She said, ‘It’s positive,’ and she started crying. I gave her a hug, and we just sat there.”

Kate’s baby is due on July 4, 2012.

‘In God’s hands’

Kate, Billy, and Tara met with a genetic counselor. Tara mainly stayed “in the background,” letting the young couple experience the happiness and worries of first-time parents, she said. The counselor informed them of the 50-50 chance that the baby would inherit the HD gene, but he did not advocate a course of action. The counselor said there was “no right or wrong answer,” Tara recounted.

Kate made a firm decision against both testing and an abortion.

“Even if she did test the baby, she wouldn’t terminate the pregnancy,” said Tara. “It was a struggle at first, after learning of the pregnancy. Once she saw the heartbeat, it was okay.”

Tara reviewed the options with her daughter, including abortion. “I don’t hide things from her,” Tara said. “I tell her that with juvenile HD, it could come on stronger and earlier in the baby.” Kate told her mother she was being “negative,” but Tara responded by emphasizing that she was simply laying out the facts.

“We just leave it in God’s hands,” she continued. “I can’t control HD. We all wish we could, but we can’t. In dealing with my little boy with autism (Asperger’s syndrome), people ask me if I knew, would I terminate my pregnancy. I say no.”

As for how the family will deal with so many potential caregiving burdens, Tara said that “we trust in God. The baby may not have HD. Shawn is high-function and our goal is for him to be a productive member of society. We will deal with the issues as they come up.”

Avoiding another pregnancy

After the baby is delivered, Kate and her family will take decisive action to avoid a future pregnancy.

“Kate is going to be sterilized,” Tara said, explaining that her daughter will undergo a tubal ligation, a procedure Tara also had after her last child’s birth. “She asked for this, and the doctor and I both support her choice – and even agree with it.”

Tara stressed that Kate initiated this plan and was not manipulated in any way. In fact, before Kate got pregnant, the mother and daughter had already discussed this possibility, although Kate declined at the time to have the procedure.

“It’s a choice that she’s making, because of the birth-control failure,” Tara explained. “She doesn’t want to go through the stress again of worrying about another baby."

I wanted to know if, in Tara’s opinion, sterilization violated God’s will in any way. She didn't think so. On this point she agreed with the Wrights, who believe that medical technology and procedures are “instruments” of God.

‘Preparing for war, praying for peace’

I wanted to explore more deeply the risk Kate is taking by not testing the baby. I asked Tara: wouldn’t a negative test put your minds at ease? And, without an abortion, wouldn’t a positive test help Kate and the family provide the best care possible for a diseased child or teenager?

“We did talk about this,” Tara responded. “Kate asked, ‘What would you do to prepare? What would the father do to prepare?’ He said: learn more about HD.”

Tara met with Billy and his mother to discuss the pregnancy and plans for raising the baby, especially because he and Kate will not marry.

“We as a family group need to be able to support that child,” Tara told me. “I said, ‘It doesn’t make a difference if it has HD or not.’ The end result of caring for the child and loving the child is going to be the same.”

In August, Tara obtained legal guardianship and conservatorship over Kate. These legal powers will also allow her to make decisions for the baby.

“In the end, I could force the issue if I wanted to, as her guardian,” said Tara. “But I’m going to respect her. Katelyn had 18 beautiful years without knowing (about HD). Life was what it was. Even now, she doesn’t think every day, ‘Oh, I have Huntington’s.’ That’s the way she wants her child to be raised.”

She summed up their strategy with these words: “We prepare for war, but we pray for peace. We prepare for the worst, but pray for the best.”

A plea for togetherness

After posting the news of Kate’s pregnancy, the family saw messages of support, but also what they termed “unkind remarks.”

For example, the Wrights criticized Kate for not testing the fetus and exploring their options.

Tara believed that the Wrights were “judging Kate.” According to her, they thought Kate was “selfish and hateful to carry a baby to term without getting it tested, that Kate had no right to give birth to a child that may or may not carry the HD gene.

“Kate was angered and hurt, as I was, from the post. When the other lady terminated her baby at 20 weeks, we supported her. We offered our prayers and love.”

When the Wrights received harsh criticism for their decision, Kate and her mother still stood by them. “I don’t agree with their choice but I ask our HD family to show the Wrights the same love you do to those of us who have a child or children living with JHD or HD,” the mother and daughter wrote.

Facing such extremely difficult situations, Tara told me, each family should make its own decision. She felt sad that “people showed anger and almost hatred toward somebody, especially when we’re fighting this horrible disease. The disease affects us all, and we should stick together.”

“In the end, it’s nobody’s business,” she said. “At the end of the day, it is up to the families, and each family has their own set of beliefs and morals. It is really up to the families to make the decisions for their loved ones, with or without society’s okay.

“I just want people to know: there are other options (other than testing and abortion). Do I understand where the Wrights come from? No. But I don’t judge them.”

A special gift from Landon

Kate, Tara, and the rest of the Hansen family are now turning their attention to welcoming a new member. Tara reports that Kate is doing well, although she consults with an obstetrician-gynecologist specializing in high-risk births.

“We’re planning on Kate doing what she can and us helping out where we can,” said Tara of the family’s post-birth plans.

They also hope to raise awareness about the need to cure HD in order to end the suffering endured by Kate, the Wrights, and the thousands of families afflicted by the disease.

Landon, the "Button Boy Fighting Juvenile Huntington's" (family photo)

Yesterday an early Christmas gift arrived at my home from six-year-old Landon. Landon makes HD bracelets and key chains. He sells them, as well as buttons promoting the HD movement. Last June, he even joined Kate and Tara at the annual HDSA convention in Minneapolis. Since then he’s raised $1,500 for the cause.

Tara told me that Landon is determined that his dollars “will find the cure.”

Landon sent my family a box with a couple bracelets, about a dozen buttons, family photos, and pamphlets and business cards for his work as the “Button Boy Fighting Juvenile Huntington’s Disease.” (You can contact Landon’s family at tanyon_24[at] To donate, make checks payable to Landon Hansen and mail to 102 1st Avenue, Doon, IA 51235. All proceeds go to juvenile HD research at the University of Iowa.)

My daughter and I inspected the package’s contents.

“How old is he?” she asked incredulously.

“He’s six,” I responded.

She selected for herself a mini-button with the words “I Love Someone with Huntington’s Disease.”

“We have to spread the word,” Landon told his mother about his gift to us. “The more people understand, the better.”

Sunday, December 11, 2011

An angel fighting for the cure (Huntington’s disease and abortion – Part I)

Lying in a hospital birthing room, Christina Wright held her premature infant son Timothy John awhile in her arms and, after he died, handed his tiny body over for research that might help save her husband and thousands of others from Huntington’s disease.

On August 28, 2011, Timothy became an “HD angel,” yet another mourned but deeply loved victim of this killer brain disease. His brain was donated to a tissue bank at the University of British Columbia’s renowned research program on Huntington’s.

After the fetus tested positive for the abnormal gene that causes Huntington’s, Christina and her husband Michael prayed at their local church in Coral Springs, FL, and then decided to abort their child in the 22nd week of the pregnancy. Hoping all along that they might carry the baby to term, they had already given him a name.

For more than ten years, Michael has helped care for his 54-year-old mother Gail Suvino, now residing in a nursing home with late-stage HD. In October 2010 Michael himself tested positive for the disease. He is 34, and he worries constantly about when his own symptoms will start.

Christina and Michael Wright (family photo)

The ‘toughest decision’

Christina and Michael could not bear the thought of their son facing the threat of a life burdened with severe disabilities and ultimately cut short by years, if not decades.

“It was very hard for me,” Christina said with great emotion in a phone interview on December 8. “I didn’t know that he was going to be born alive. He was strong and a fighter and wanted to live, and that breaks our hearts.”

“He looked just like me when he was born,” said Michael, who had stood by Christina during the birth. “He had my big feet and chicken legs.”

“This was the toughest decision we ever had to make,” he continued. “I bring it up every day. A lot of people don’t know what this disease does to a family. It does massive damage to a family.”

A birth with a research goal

With medical assistance, a baby delivered at 22 weeks would have a 10 percent chance of survival, explained Christina, a pediatric nurse. Because this was an abortion, the medical team did not intervene to save Timothy. He died of heart and lung failure.

“I did not have a clinical abortion,” Christina said, noting that in a standard abortion the mother is put under anesthesia and the fetus terminated and removed in pieces with the help of forceps. Under those circumstances, the brain could not have been used for research.

“I went through the birth to be able to donate the brain,” Christina continued. “The doctors did insert pills into my cervix to induce my labor. I pushed him out. I delivered my son with the purpose of fighting this disease.

With great pain in her voice, Christina spoke of how she will miss her son.

“No one wants to hurt their child,” she said. “We loved him so much. We always will. Even if we have ten children, we’re always going to be missing one. He was our son and always will be. We have pictures of him. We have his ashes in an urn. He will live in our hearts forever.

“I feel like he’s fighting in a different place,” she added. “He’s my husband’s angel. My son can help save my husband. He’s a warrior. I couldn’t be more proud as a mom, to know that my son helped find a cure to beat this. Some moms want their children to be a doctor or a lawyer. Mine might help find the cure for a disease that destroys families.”

Painful memories of another test

When I read Christina’s Facebook posting about Timothy on August 29, I felt terrible. I decided immediately that I would soon write an article for this blog about their plight. This is the first of two articles about HD and abortion.

Never an easy decision, abortion is even tougher for people of faith like the Wrights and a pediatric nurse like Christina. The disabling, ultimately deadly nature of HD further complicates that decision.

Interviewing the Wrights was one of the most difficult moments in my 13-plus years as an HD activist.

Listening to them sent my mind reeling back to the winter of 1999-2000, when my wife and I tested our own baby for HD in the womb six months after I had tested positive for HD. As I told the Wrights, their experience closely resembled ours – except for the all-important fact that our daughter tested negative.

As I pictured Christina holding Timothy, I imagined what it would have been like if our daughter had died in her mother’s arms immediately after birth.

I can’t find the words to describe the pain I felt. I shared our family’s story with Christina and Michael. I told them that I supported their decision and thanked them for donating Timothy’s brain for such a worthy cause. “I appreciate that,” Christina said.

In recounting the interview to my wife, I explained how the Wrights had oscillated between continuing and terminating the pregnancy. I then recalled our own situation. “Nobody knows for sure until they’re actually faced with the decision,” my wife said. I agreed.

An HD-free child

I am immensely relieved that our “miracle baby” is HD-free.

On several evenings this past week she and I happened to watch a recording of The Heart of Christmas, a new feature film based on the story of Dax Locke, a toddler whose battle against a rare form of leukemia mobilized the community to support his family and celebrate Christmas early so that he could enjoy it one more time before he died in 2009. Thinking of the Wrights, I felt so privileged to share these moments with her.

Last Saturday morning, after we accompanied her to a testing center for a private school entrance exam, I reflected on her progress in life and her immense potential.

The most powerful drive in life – more than the sex drive or anything else – is the need to nurture and protect a child. No calamity wounds a family more than the death of a child.

An imperfect situation

The Wrights’ story reveals the tragedy of HD, the wrenching decisions it forces upon families, and the imperfect conditions under which they must make and carry out those decisions.

After meeting through and dating awhile, Christina and Michael married on St. Patrick’s Day of this year. Michael, a beverage merchandiser who had to quit college in part to help care for his mother, had revealed to Christina that he had tested positive for HD but so far had not symptoms. Christina witnessed the tough reality of HD by meeting Gail.

“A lot of people would run the other way,” Michael said. “She really loves me.”

Christina, now 38, had been told by doctors that she couldn’t get pregnant because of an irregular menstrual cycle since the age of 14 and, later, ten years of failed attempts to conceive in a prior relationship. She and Michael didn’t use contraceptives.

The pregnancy caught the Wrights completely by surprise. Thus they hadn’t had the opportunity to seek genetic counseling, nor could they resort to PGD (preimplantation genetic diagnosis), which would have allowed them to choose embryos without HD for implantation into her uterus.

Pondering the results

An amniocentesis was done on the baby at sixteen and a half weeks, the earliest possible moment. But the results of the HD test took three more weeks to arrive.

Michael’s abnormal gene has 42 CAG repeats, whereas a normal huntingtin gene has only ten to 29. Those extra repeats cause the disease. Timothy had 40 repeats. Statistically speaking, Michael, who is 34, will probably develop symptoms sometime in his forties or fifties. Someone with 40 repeats might develop them a bit later, although, according to Michael, Gail’s symptoms started around the age of 36 or 37, and she has only 36 repeats.

Although they are finding more clues, scientists still don’t know exactly how and when the disease starts. Anybody with 40 repeats or more will definitely develop symptoms at some point.

The Wrights had learned that the child of a gene-positive man has a much greater chance of developing juvenile Huntington’s disease, which can start as early as the toddler years. But that’s because the father can often pass on more repeats, whereas a mother usually passes on her number. In this case, Timothy actually had fewer repeats.

“I almost don’t want to know that, if that’s the case,” Christina told me after I explained my understanding of that connection between repeats and juvenile HD. “We very much wanted our baby. We feel that we gave him back to God, especially because we’re Catholic.”

‘We were bonding’

The process of learning about their child’s fate was awkward. The Wrights received the results of Timothy’s HD test from an on-call obstetrician, rather than from their regular doctor, who was out of town. No social workers or geneticists were on hand to help clarify the information, and it was the first time the obstetrician had ever advised a patient on an amniocentesis involving HD.

The Wrights faced additional time pressure because in Florida a fetus at 24 weeks is considered viable, Christina explained. Had Timothy reached that age, the couple would have had to travel to another state for an abortion.

“We were both crying and both devastated,” she said of the impact the news of Timothy’s gene-positive result. “It was very difficult for us. I didn’t think God would give us more than we could handle, and so I wanted to have our son.

“It wasn’t just a pregnancy at that point. It was our son. We saw his picture on the ultrasound. I was gaining weight. I could feel him move. We were bonding with him. We started picking names. It was just very hard.”

Medical advice

But the obstetrician told her that she “was being selfish and not considering the life of the child” if she went through with the pregnancy, she said.

Other doctors that the Wrights knew at the University of Florida in Gainesville – where Michael travels regularly to participate in an HD research study – couldn’t tell the couple when the symptoms would occur and how bad they might be.

“We wanted to consult with them,” Christina said, explaining that they spoke with these physicians via cell phone. “Their opinion meant more than an obstetrician’s. They agreed that it would be better not to have the child.”

She added that these doctors did not mention the relationship between the CAG repeats and the age of onset.

All of the doctors led the Wrights to conclude that they would have a “sick baby,” Christina said.

Timothy’s purpose

Sitting in a pew at their church, the Wrights prayed and cried for more than an hour. The parish priest appeared and asked what was wrong, and, without mentioning HD or a genetic test, the couple explained that they had gotten “bad news” at the doctor’s office and would have to deliver their child prematurely.

“He came into our room (at the hospital) and said a prayer and held our son and put some holy water on him and christened (baptized) him,” Christina said, adding that Timothy was probably dead at that point. “It was very touching for us.”

Timothy lived for about 90 minutes. The medical personnel needed to get his brain on dry ice in 30 or so minutes, and they shipped it to the University of British Columbia’s Huntington Disease BioBank. There scientists study tissue samples to understand “the way DNA changes associated with Huntington’s disease affect the actual physical characteristics and proteins of the brain and tissues.”

“That was one thing we were adamant about,” Christina said. “If we were going to lose our son, we wanted something to come from this.

“We’re not ashamed of what we did. We just want to help find a cure.”

The couple wants to share their story to raise awareness about Huntington’s and support the quest for a cure not just of HD, but other devastating neurological conditions such as Alzheimer’s and Parkinson’s, Michael added.

Timothy is now part of that quest.

“We felt that was his purpose,” Christina said.

Opinions on testing

The Wrights still want a child and are now saving to afford PGD, which can cost upwards of $10,000 and even twice that amount, depending on the circumstances. Their insurance doesn’t cover it.

They believe that PGD is “the responsible thing to do,” Christina said. She strongly disagrees with families that, when pregnant, choose not to test for HD via amniocentesis.

“With all that science has to offer, it’s (also) the responsible thing to do,” she said.

“Just think about the long-term effects if they don’t do the right thing,” Michael said. In using the latest scientific techniques, he and Christina aren’t seeking the “perfect baby, but a healthy baby,” he added. “You owe it to your family” to assure healthy genes, he said.

“God gives us these vessels, these instruments, this technology to guide us and help us along, especially in the medical field,” Michael said. “Don’t go through it blind-folded.”

More HD families need to “come out of the closet,” Michael continued. HD is “not something to be ashamed of. People look at Mom and think it’s a stroke. It hurts."

Learning from the Wrights’ example

In concluding the interview, I told Michael that he and I were “brothers” in the fight to stay healthy and support the cause for the cure. I told Christina that she was my “sister” in the cause.

I’ve been meditating on Timothy and his parents. I pray that others don’t have to face their terrible predicament, although many surely will until the medical community achieves greater awareness of the genetics of HD.

Ultimately, effective treatments or a cure would liberate people from this predicament.

We can learn much from Timothy John Wright. His parents gave us his brain for research – to serve the greater, common good. Understanding the bigger picture, Christina and Michael committed the ultimate act of human solidarity.

We in the HD community also need to see the greater good. Whenever possible, we need to participate in research. To do so, we must exit the terrible “HD closet.” I myself remained pseudonymous, in the closet until 2010, and in February of this year I came out by delivering the keynote speech to HD specialists from around the world gathered at a key conference in Palm Springs.

As Michael pointed out, we need to rise above the difficult feelings surrounding HD and gain heart from the fact that our participation in the quest for treatments and a cure is helping to create the dawn of a new era. Along with the scientists, we are taking a quantum leap in the study of the brain. We are the pioneers pointing the way to better brain health. We are doing something profoundly good and important.

From suffering to progress for all

In the past, many people – including my own family – have viewed HD as a matter of suffering. But today, with scientific progress, HD is about the human quest for a longer and more fulfilling life for all.

In the Bible, Abraham was willing to sacrifice his own son in a sign of complete commitment and love. Our collective human sorrow is captured In Michelangelo’s Pietà, with Mary holding the body of her son Jesus after his crucifixion.

Michelangelo's Pietà, in St. Peter's Basilica in Rome

The mini-urn containing Timothy's ashes (family photo)

We in the HD community are all Timothy John Wrights in our mothers’ arms.

Indeed, we in the HD community endure great suffering. “You think, ‘God can’t be that cruel,’” Michael said.

But, like the Wrights, none of us should feel ashamed. This community has lots of love – and it shows it just as the Wrights have done.

(The second part of this series will tell the story of Katelyn Sandbulte, a 20-year-old juvenile Huntington’s disease patient in the first trimester of pregnancy.... At this special time of year, please remember to donate to the Huntington’s Disease Society of America.)

Wednesday, November 30, 2011

The Holy Grail of Huntington's disease research: the gene-positive, drug trials, and treatments

Living in the gray zone between my genetic test for Huntington’s disease and the inevitable but indefinite onset of this devastating brain disorder, I frequently feel forgotten in the excited discussion about impending clinical trials to test potential treatments.

HD researchers want to include people like me in trials, but haven’t yet found a way to do so.

I am a victim in waiting, but without any of the noticeable, classic symptoms that would qualify me for participation in a clinical trial.

Because so much of the effort against HD is geared to helping the affected and the caregivers, I sometimes sense that we, the asymptomatic (or pre-manifest) gene-positive, have been relegated to second priority.

Emotional impact

I recognize that I am, for the time being, relatively fortunate, but the situation of perceived neglect, although unintentional, impacts me emotionally.

I wonder if symptomatic people feel jealous towards me – just as I have occasionally reacted with a furious inner jealousy when I learn that someone has tested negative. In other instances, I have briefly felt smug when I’m around or am thinking about people with symptoms.

In yet other instances, I feel compassion – and even profound guilt. I tell myself, “You have no right to worry! You’re not even sick! Your life hasn’t even been affected by the disease!”

Mostly, I just feel lucky to function normally and to have the opportunity to enjoy daily life.

But then I remember, “Yes, I have been affected by this disease. It took Mom’s life at only age 68, and it has robbed me and my family of so many dreams.”

I literally dreamt about my status last night as my mind worked on this article: a team of HD medical specialists put me through a series of exams to see whether symptoms had begun, and, as I awaited the results, I used a large red marker to edit this text.

Not coincidentally, it’s time to set up my annual checkup at the Huntington’s Disease Society of America’s Center of Excellence for Family Services and Research at the University of California, San Diego.

So far, those checkups have not turned up any of HD’s classic, outwardly noticeable symptoms.

But I am hyper-conscious of the fact that HD affects the brain ten or more years before those symptoms start. If an effective treatment isn’t found in the next few years, I will be doomed to follow in my mother’s footsteps.

Unable to reach the finish line?

The feelings of vulnerability and abandonment are magnified when I remember that no current or impending HD clinical trial includes participation of those of us who are pre-manifest.

In short, everything is currently focused on stopping HD already in progress. Nobody has yet developed a workable strategy for preventing the onset of HD.

Along with the scientists I have interviewed over the years, I am confident that a significant treatment or series of treatments will become available in the next decade or so to ameliorate the symptoms. Of course, I also hope for a “cure,” but scientists don’t use that term. They talk of controlling or managing the disease, because, of course, the defective HD gene cannot be removed from the body.

But I’m deeply worried that scientists will still take many more years beyond that to discover treatments for people like me, treatments that can stave off onset and/or minimize symptoms.

Ever since I tested positive in 1999, I have been racing against my own interior genetic clock to avoid symptoms and support the HD movement.

But the probability that my symptoms will start in the next few years leaves me with the sensation of the marathon runner who glimpses the finish line but ultimately cannot reach it.

Participation in studies

For now, pre-manifest people can participate in research studies. Whereas clinical trials aim specifically to test the safety, tolerability, and efficacy of a drug, studies seek to provide further information about a disease and/or strategies for treating it.

Studies can also include a test of safety and tolerability of a substance, as exemplified in the PREQUEL study, an investigation of coenzyme Q-10 exclusively in a pre-manifest group of 90 individuals. PREQUEL also aims to “assess the usefulness of certain markers of HD in the blood, which may help measure the rate of the disease progression or effects of medication.” Its coordinators aim to use it as precursor to a clinical trial of coenzyme Q-10, an antioxidant produced in the brain and that has led to the improvement of symptoms in HD mouse models.

Major studies involving pre-manifest people include PREDICT-HD, COHORT, and the forthcoming Enroll-HD, a new, worldwide HD database expected to start gathering information in early 2012. (Click here to read my previous article on Enroll-HD). Enroll-HD is sponsored by the CHDI Foundation, Inc., the so-called “cure Huntington’s disease initiative,” a multi-million-dollar effort backed by a group of anonymous donors.

Through the above-mentioned Center of Excellence, I have participated in a number of studies, including COHORT, MRI studies, research involving HD and the sense of smell, and an experiment with instruments designed to measure loss in mobility. (Click here and here to read more.) I have also given blood and, for many years, participated in cognitive batteries and a Dementia Rating Scale study. I also took part as the only pre-manifest individual in the Huntington’s Disease Drug Works program’s "treatment now" observational trial of supplements, a rare opportunity for someone in my situation.

A ‘long time’ to gene-positive trials

The federal Food and Drug Administration (FDA) will not permit pre-manifest people to participate in clinical trials until beneficial results have first been demonstrated in symptomatic patients. The FDA also requires that researchers come up with useful ways to measure benefits in the pre-manifest.

I became acutely aware of the challenges of designing a drug for the pre-manifest during a July 2009 interview with Dr. Frank Bennett, the senior vice president for research at Isis Pharmaceuticals, Inc., in Carlsbad, CA. Along with CHDI, Isis is planning a clinical trial of a revolutionary drug that, if successful, would attack HD at its genetic roots and slow or perhaps even stop the progression of the disease in the brain.

Dr. Bennett told me that although the clinical trial will focus only on symptomatic patients, he was “optimistic” that a way could be found to help the pre-manifest, too.

Exhilarated by the promise of a potential “cure,” I wrote several enthusiastic articles about Isis.

But privately I also felt somewhat desperate, because, as Dr. Bennett explained, finding a solution for the pre-manifest would take a “long time.”

“Identifying when to start treating those patients is going to be a little tricky, as you might imagine, because you don’t want to do it too soon,” he said. By the same token, Dr. Bennett added, waiting too long would miss the opportunity to protect brain cells, which, once damaged, could not recover. “This is not a short-term fix but it’s something that’s going to take a large number of years to figure out how to optimally treat these patients.”

Other path-breaking clinical trials face similar hurdles. Alnylam Pharmaceuticals, which is close to starting its own clinical trial for a similar attack on the disease’s genetic causes, plans to inject its drug directly into the heads of patients, but they must first undergo an operation so that a very fine needle can be inserted into their brains (click here to read more). Medically, scientifically, and ethically speaking, only symptomatic patients can undergo the many risks of such a trial.

As Dr. Bennett and others have noted, the FDA will display great caution with these new kinds of drugs as well as the highly invasive delivery systems. Isis and Alnylam are striving to minimize levels of risk and invasiveness.

Seeking the Holy Grail

HD researchers face a major challenge in finding a treatment for the pre-manifest. It’s really the Holy Grail not only for HD, but also for other neurological diseases such as Alzheimer’s in which brain damage occurs many years before symptoms appear. Ideally, researchers want to design medications that will completely prevent these diseases.

In a recent e-mail to me, CHDI President Robi Blumenstein elaborated on this point with an analogy.

“The purpose of a cholesterol-lowering drug is to prevent heart disease, not lower cholesterol for its own sake,” he explained. “Cholesterol-lowering drugs were tested on people at risk for heart disease. By analogy, we would like to test HD drugs on gene-positive people (like you) at risk of developing symptoms of HD to see if the intervention prevents the appearance of symptoms (that is, slows or arrests the progression of the disease).”

So, as researchers ramp up to clinical trials, this challenge is gaining greater attention. At the World Congress on Huntington’s Disease in Melbourne, Australia, in early September, several scientists revealed their research into areas directly related to this challenge, including a study of brain changes in the pre-manifest, the development of measurements from MRI brain scans to predict and track symptoms, and a report on how functional MRI scans can detect brain activity changes before brain shrinkage occurs. (For details click here.)

In his remarks at the World Congress, Blumenstein pointed out that researchers need both gene-positive and affected individuals to participate in research studies now in order to prepare adequate measurement tools for clinical trials.

“It would be a shame if we have potential drugs to test but lack the tools to conduct the tests to see if they are having the desired effect,” Blumenstein wrote to me.

“What the FDA will accept for regulatory purposes (i.e., to approve a drug) and whether we can satisfy ourselves that we are on the right track scientifically to modify the disease are two different questions,” he added. “We will need people like you to participate in studies and, yes, trials to establish the latter. When we are successful with that the former may require some education and lobbying of the regulators to convince them that new approaches to approving drugs for genetic diseases are appropriate.”

Waiting in the wings

For the beleaguered Huntington’s disease community, clinical trials of potential treatments provide a ray of hope.

Looking back to my mother’s diagnosis in 1995, I recognize that researchers have made stunning progress. But big hurdles remain, especially in developing preventive treatments for the pre-manifest.

I share the researchers’ optimism, but I temper it with a sober assessment of the complexity of the challenges.

For me, time is ever more precious.

Once again, it’s crystal clear that researchers ultimately rely on the participation of HD-affected families. Everybody can play a part – the untested at risk and the pre-manifest in research studies, and the affected in clinical trials.

The affected will bravely pioneer treatments by initiating the trials.

For the time being, however, gene-positive individuals like me must wait in the wings.

But we can assist immensely by supporting the affected, advocating for the cause, and, perhaps most importantly, taking part in the appropriate studies and experiments.

Together we dream of the day when we can all declare: “I’m HD-free!”

Today, being gene-positive for Huntington’s disease threatens the well-being of me and my family. But if the science continues to accelerate, it will provide hope that carrying the HD gene will become little more than an inconvenience.

Monday, November 21, 2011

An HD Thanksgiving toast

Thanksgiving is my favorite holiday.

Just when the year threatens to become frenetic, Thanksgiving intervenes with a hearty feast and family warmth.

When I was about twelve, I wrote a letter to my aunt Claralou praising her for the peaceful and welcoming atmosphere of her annual Thanksgiving celebration. She displayed my letter on her refrigerator door, and it appeared there again year after year as a remembrance of the true spirit of Thanksgiving.

My mother helped her and the other women with the turkey roasting in the oven for what seemed like forever, while my father, my uncle, and the other men drank beer, talked, and tended to us eight cousins stuffed into the house.

Nobody was a smoker, but on Thanksgiving my dad and my uncle would light up cigars and smell up the den where the football classics were playing on TV and I tried to learn how to use a nutcracker. One year they let us try a few puffs. I felt cool and manly.

Thanksgiving put the brakes on schoolwork, and, in college, when I spent the holiday on the East Coast, it saved me from completely exhausting myself.

I also like Thanksgiving because, of all the holidays, it has resisted commercialization the most. Aside from a trip to the supermarket for dinner items, the urge to buy is absent. (Black Friday is definitely not about Thanksgiving, but Christmas.)

Now in her 80s, Aunt Claralou still celebrates Thanksgiving in the same home, but, living in California with my own family, I haven’t had the chance to spend the holiday there.

My parents are gone – my mother the victim of Huntington’s disease in 2006 at the age of 68, my father, the “HD warrior,” dead at nearly 82 from a broken heart a little more than two years ago.

Ever since we learned of my mother’s diagnosis the day after Christmas in 1995, Thanksgiving has taken on a more profound meaning. For me, it really is a time to take stock of all the good in my life – even though I have lived in wait and dread of HD after testing positive in 1999.

Despite the enormous worries about our future, my family and I are thriving. My wife continues to work full-time as a teacher. Last weekend she ran her sixth half-marathon since taking up running in early 2010. Our “miracle baby,” who tested negative in the womb, is performing well in sixth grade and preparing to take the private-school entrance exam. And, as I look to my 52nd birthday in less than two months, an age at which HD had already stricken my mother, I have displayed none of the classic symptoms of HD.

Along with my wife and daughter, I have experienced the simplest yet profoundest joys of life (click here to read more). Last Saturday our daughter played her last soccer game of the season. As she played one of her best games, I doubled on the sidelines as the assistant coach and team videographer, and my wife cheered them on and made sure the half-time snacks were ready. Later in the afternoon we attended the year-end party, where I was moved by the girls’ unity and laughter and the realization that we parents were a team just as united in our devotion to our daughters.

I feel a special debt of gratitude to the many people engaged in the fight against HD: the members and administrators of the four organizations combating the disease; the HD people and their families fighting the good fight each day; the physicians and caregivers; and the scientists and pharmaceutical companies on a quest for treatments and a cure.

I am continually moved by the circle of close friends who pray for and support for me in numerous ways – especially Norman Oder, the editor of this blog and my “HD alter ego.”

I also want to thank you, my readers, for sharing with me the harrowing odyssey of living gene-positive for a condition described as “the devil of all diseases.” In posted comments, on Facebook, through e-mail, and even in phone calls, you have expressed your unflagging support for me personally and confidence in our collective fight to defeat HD.

Knowing that you are listening, challenging, and cheering me on provides me with an immense emotional strength, and hearing about your valiant efforts against HD inspires me.

As I share both a ham and turkey with our guests on Thursday, I’ll raise a toast of thanks to you.

Monday, November 14, 2011

Finding America’s passion: the NFL and Huntington’s disease

In a poignant night of football talk and appeals to combat Huntington’s disease, San Diego’s eleventh annual Celebration of Hope Gala put the National Football League (NFL) front and center in the campaign to protect the health of our most important organ: the brain.

NFL Commissioner Roger Goodell headlined the event, titled “NFL: America’s Passion.” Held by the San Diego Chapter of the Huntington’s Disease Society of America (HDSA-San Diego) on November 9, 2011, the gala attracted a record audience of some 600 people at the Manchester Grand Hyatt hotel, including sports celebrities and representatives of major donors such as Qualcomm.

Goodell, interviewed on stage by ESPN football analyst Chris Berman, addressed such controversial topics as recently “testy” player-owner relations and the San Diego Chargers’ quest for a new stadium. Perhaps most of all, Goodell recognized how the NFL must take the lead in making football a safer game for players and, I’d add, especially their brains.

Chris Berman (left) and NFL Commissioner Roger Goodell (photo by Mike Nowak)

“Part of our labor agreement was player health and safety and how we make the game safer,” Goodell explained about the recently signed accord between the owners and the players’ union. “I firmly believe the game is safer and more popular than ever, but I think we can do better…. That’s priority one.”

Goodell cited reducing physical contact during training camp, avoiding the creation of a longer season until the game becomes safer, and prohibiting techniques that lead to frequent injuries.

Goodell’s comments come as concern about brain injuries heightens in the wake of growing evidence about the dangers of concussions not only for the hard-hitting professional players, but the millions of youths who play at all levels.

You can watch the Berman-Goodell interview in the video below.

The football-HD research connection

Although nobody explicitly made a connection between research on brain injuries and HD, both fall into an area of inquiry in which understanding and treating one condition can bring benefits to sufferers of other conditions.

HD research sheds light on Alzheimer’s, Parkinson’s, Lou Gehrig’s, and a host of other brain conditions. Stroke and spinal cord injuries enter the mix, too.

So it’s conceivable that HD research – which has led scientists to plumb the mysteries of the brain – could suggest strategies for preventing and treating brain injuries such as those sustained by athletes.

Even without an explicit mention of an HD-concussion link, the gala drove home the point by bringing together Goodell, HDSA-San Diego, Chargers President Dean Spanos, and other leaders of the football world.

Berman’s lessons from the Johnstons

Prior to his conversation with Goodell, Berman, the gala emcee, underscored the tragedy of HD by recalling his long friendship and professional collaboration with Bill Johnston, the Chargers’ PR director and the husband of Ramona Johnston, who is in the late stages of HD.

“Being a PR director in the NFL is very hard work, but I thought that he was like me,” recounted Berman. “He had a very attractive wife and two very nice children. But I realized that, while that was all true, when Ramona came down with Huntington’s disease, I learned that he and the Johnstons were quite not like me. What I knew was only ten percent, maybe, of what he, Mona, and the children go through each day.”

To hear more of Berman’s remarks, watch the video below.

(You can read more about the Johnstons by clicking here.)

Introducing Ramona

Johnston was the prime mover behind the gala. Ramona was diagnosed with HD in 1999. Unable to care for herself, she has resided the past several years at Edgemoor Hospital, a public facility for people with HD and other debilitating conditions.

“It’s just a horrible, horrible disease,” Johnston explained. “Some have called it the devil of all diseases, because of the symptoms and how it affects people and families. It’s a brain disease that causes brain cells to die.

“And your brain controls obviously everything that you are, mentally, physically. Your brain is who you are, in so many ways. This disease robs you of who you are.”

The Johnstons’ son Jared and another young man then helped Ramona from her wheelchair and onto the stage. They held her in a standing position as Johnston continued his powerful and wrenching testimony.

“If Mona could talk right now, she would just say thank you – thank you for being here – and tell the world about this disease,” Johnston told the audience, his voice filled with emotion. “Tell anyone you can tell. Because you are here to make a difference, and you are making a difference.”

You can watch Johnston and Ramona in the video below.

The Johnstons and HDSA-San Diego

In 1999, I myself tested positive for HD. I vividly remember speaking with Ramona at a benefit walk-run co-sponsored by the Chargers. We commiserated with each other about our gene-positive status.

Ramona was still very lucid, though her symptoms had already started. As I watched her decline over the years as my mother also succumbed to the disease (she died in 2006), I knew that I would follow in their footsteps. Ramona is now 52 – just one year older than I.

Along with Johnston, HDSA-San Diego board members, and numerous volunteers, I have worked assiduously to raise the profile of HD. I attended dozens of board meetings at which Johnston was present. I’ve visited Edgemoor a number of times, several of them with Bill, to gather information and take photos for the HDSA-San Diego website and publications. He and I have exchanged literally thousands of e-mails about all aspects of the HD cause.

In October 2007, I arranged for Bill and Ramona to appear before the oversight committee for California’s multi-billion-dollar state stem-cell initiative to make a plea for HD research funding.

In all, I estimate that in the past decade the San Diego chapter has raised more than $2 million for HDSA.

Sharing the pain

At the gala, I commiserated with another emerging leader of the HD movement, Katie Moser. Katie supports the cause through her position as manager of advocacy and patient support with Lundbeck, the pharmaceutical company that markets Xenazine (tetrabenazine), the first federally approved drug for chorea, the dance-like movements and tremors typical in HD.

“Lundbeck has established a strong relationship with the HD community in the U.S. over the past two and a half years,” Moser told the audience. “I am fortunate to be a part of Lundbeck, because, as some of you might know, I grew up in a family affected by Huntington’s disease, and in 2005 I had the genetic test that shows that I have the genetic mutation that will cause the disease.”

As a sign of hope for the HD community, Moser reported on Lundbeck’s renewed commitment to finding treatments.

Gene Veritas and Katie Moser

I also greeted the Johnstons’ 23-year-old daughter Hayley, a co-chair of the gala and an energetic and highly focused board member who is at risk for HD but has yet to test for the condition. Several years ago her older brother Jared, now 26, tested negative.

Earlier I helped man an HDSA information table, where other volunteers and I solicited people’s e-mail addresses for our chapter database and asked them to sign a petition urging passage of the Huntington’s Disease Parity Act of 2011, a bill in Congress that would make it easier for HD patients to obtain their rightful federal benefits. Terry Leach, a 14-year-old stricken with juvenile Huntington’s disease and confined to a wheelchair, handed out blue HDSA “Care2Cure” wristbands.

At dinner I sat at a table with Hayley’s work colleagues from Qualcomm and also Lindsey Zan, an untested, at-risk woman and one of five people featured in a moving video screened at the gala.

Support from the Chargers

Throughout the Johnston family’s personal ordeal and the San Diego chapter’s collective efforts to raise funds and awareness, the Chargers organization has lent its support in numerous ways, including sponsorships and other donations totaling hundreds of thousands of dollars.

In addition to this year’s gala, Chargers President Dean Spanos and his wife Susie have attended and supported a number of past galas, and Dean’s father and team owner Alex Spanos has also donated to the effort. Dean and Susie’s two sons have also participated in a number of HDSA-San Diego events.

The family is well aware of the fragility of our brains. In 2008, Alex, at 85 and afflicted by severe dementia, wrote a holiday letter to his family lamenting his loss of memory and expressing his love for them. Susie’s father had Alzheimer’s.

In 2003, Dean and Susie Spanos were honored at HDSA’s annual Guthrie Awards Dinner in New York. At the 2008 dinner, Johnston was awarded HDSA’s Marjorie Guthrie Leadership Award. On hand were HDSA-San Diego board members, former New York Governor George Pataki and his wife Libby, the Spanoses, and Goodell.

A cerebral matter for everybody

The San Diego gala hit the mark in describing the NFL as “America’s passion.”

As I have written before, “the Sunday ritual of watching football has taken over as the national religion, a religion where people profess a belief in sports as the path to success in life.” Rooting for our favorite team also permits us to unleash our instinctual tribalism and the primordial exercise of violence.

From left to right, NFL Network analysts Marshall Faulk, Deion Sanders, Michael Irvin, Steve Mariucci, and Rich Eisen close out the gala with football banter and joking with the audience (photo by Mike Nowak).

But the gala transformed that passion from something primeval into a cerebral affair: first, in an intellectual sense, by discussing it a high level, and, secondly, in a literal sense, by recognizing the primacy of the brain.

Playing excellent football requires the utmost stretching of the brain’s powers as the athlete strives for perfect physical coordination and intelligent tactics and strategies.

Promoting brain health requires that we protect, nourish, and exercise our brains. This includes wearing a helmet during football, but it also means redesigning the game, gear, and rules.

Ultimately, I hope, the cerebral passion of the NFL will make brain research a national priority at a time when HD, Alzheimer’s, and other brain disorders are beginning to strain our resources with a massive caregiving burden. Goodell, the NFL teams, and the league hold great sway in our society and have the power to mobilize people in a grand cause.

As an HD-positive person praying each day not to become like my mother, Ramona, and thousands of other Americans who have fallen victim to HD, I fervently hope that the NFL will take the lead of the Chargers, joining the campaign to end HD and protect the brain.

Monday, November 07, 2011

Huntington’s disease in the news and entertainment media – Part II: A suicide on TV

I’m not going to die a slow death from Huntington’s. I’m not going the way my mother did…. It’s time, Amelia. I mean, I’ve had great food, great sex, great love in my life, and a great friend. I’m happy, and I’m ready. I need you to help me die.

With those words, 30-year-old Michelle, whose HD symptoms had recently started, asks her doctor to assist her in committing suicide.

Michelle and Amelia are fictional characters in the ABC television network’s evening drama Private Practice, but the scenes in which they act (broadcast on October 27, 2011) represent the stark psychological reality of HD patients, untested at-risk individuals, and gene-positive people like me.

According to a 2005 landmark study of HD and the risk of suicide conducted by the international Huntington’s Study Group (HSG), HD patients commit suicide an estimated seven to 200 times more often than the general population, although the data are complex because of the diverse scientific methodologies employed in the research. “Indeed, our current ability to predict actual suicide is poor,” the study states (click here to read more).

A 2010 article by Dutch medical school professor Raymund Roos reported that after pneumonia, the leading cause of death in HD patients is suicide.

Other studies have demonstrated that suicide risk increases around the time of genetic testing for HD (click here to see one example).

In the Private Practice episode, Michelle goes through with her plan, only to change her mind when an injection applied by Amelia leaves her unable to breathe. After her revival in a hospital emergency room, Michelle makes another attempt, this time alone. Amelia discovers her dead body on top of a bed with an open bottle of pills at her side.

Disturbing thoughts

This was an even more painful depiction of HD in the popular media than, as I described in Part I of this two-part series, the Dear Prudence column recounting the story of a young mom who learned just days after the birth of her son that her mother-in-law had HD. That news signified that the father and the baby were also at risk for HD, putting the dad and possibly the son in the difficult situation of requiring a genetic test. In the article I recalled my own anxiety-ridden process of decision-making, which led to my positive test for HD in June 1999 and, six months later, my daughter’s negative test in the womb.

Thinking about the Private Practice episode stirs up disturbing recollections of my suicidal thoughts in the years before and after my genetic test, although not at the moment of the test itself.

My mother had been diagnosed with HD in 1995. Distressed, I watched her revert to a childlike state. I remember vividly how, during one of her visits at our San Diego condo, she ate with her hands. She was also rapidly losing the ability to speak.

“I don’t want to be a gimp,” I remember angrily telling myself, fearing that I might have the HD gene and would become severely disabled.

A farewell ceremony

As a Catholic, I had grown up with the belief that suicide was a sin. As an adult, I still considered it wrong as well as a terrible waste of a human life, no matter what the condition of the person. Life was a gift from God, and only God could take it away.

But HD so relentlessly destroyed my mother’s humanity that I began to think differently about suicide.

On several occasions I declared to my wife that I would rather end my life than face HD symptoms.

I especially feared losing my ability to pursue my greatest passions, reading and writing.

I created a film in my mind in which I invited my closest friends and my wife to a farewell ceremony after which I would, like Socrates, drink a cup of poison.

With a mixture of fear and bravado, I even told my wife about this plan.

Whenever we spoke about HD, she would offer words of hope. However, she kept silent on the topic of suicide. I could tell by the look in her eyes that these declarations scared her.

A devastating option

On the day I received my HD test results in 1999, my wife and I entered a state of emotional shock. As I pulled my new Corolla out of the clinic parking garage, I became distracted and scraped the right fender against a column.

But I did not think of suicide.

I was angry – but also filled with a resolve to fight back. Testing positive for HD changed my life forever. It cast upon me a pall of fear and anxiety, but it also energized me to live life to the fullest.

In the next few years, thoughts of suicide lingered for a while but eventually left my conscious self.

The birth of our HD-negative “miracle baby” in June 2000 – just a few weeks after the first anniversary of my positive test – transformed my thinking about HD and suicide.

First of all, I was so overjoyed at her arrival, and then so busy helping care for her, that I had much less time for dwelling on HD.

Secondly, my fatherly instinct kicked in. With a family to love and support, and who unconditionally lent me their love and support, I began to see the absurdity of committing suicide – at least while I was still free of symptoms.

As I wrote a few years later, “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.”

Dredging up difficult feelings

So I buried thoughts of killing myself. I also channeled much of my anxiety into an increasing level of advocacy work for the Huntington’s Disease Society of America.

After my mother died in February 2006, I became paralyzed by the fear of onset. For nearly nine months, I did not write in this blog.

Yet I had no fantasies of suicide during that long and dark night, although I most certainly thought about death every day.

Since then, I have gained psychological stability and worked hard to avoid symptoms. Surely luck plays a part in the fact that I am approaching my mother’s age of clear onset without any classical signs of HD.

But watching and then reflecting on the Private Practice episode dredged up the difficult recollections I am sharing with you here.

Analyzing Private Practice

I tracked a debate among some members of the HD Facebook community about the pros and cons of the episode, especially regarding whether it accurately portrays the reality of HD people. A number criticized the program for focusing on suicide, while others welcomed the exposure HD received.

Private Practice is actually just the latest in a line of TV productions about HD stretching back to the 1960s. For a detailed explanation of that history, you can click here to watch a video of the keynote speaker at the 2009 HD research conference sponsored by the CHDI Foundation, Inc., the so-called “cure HD initiative,” backed by wealthy, anonymous donors.

The Private Practice episode uses HD as a vehicle to demonstrate the dilemma experienced by physician Amelia in her decision to assist Michelle with suicide.

To the extent that it portrays HD and suicide, I believe the episode is fairly accurate. I very much identified with Michelle’s fears of turning out like her mother. Like her, I frequently thought of planning a suicide for a moment in my life when I could still properly say good-bye.

Suicide as preoccupation

Cleary, as the HSG and Roos articles point out, thoughts of suicide preoccupy many HD people in the at-risk, gene-positive, and affected categories.

Based on a study of “suicidal ideation” in 4,171 individuals in the HSG database, the HSG study determined several critical periods for suicide in HD: the time leading up to diagnosis, onset and the start of early “soft” symptoms (when people can still actually plan a suicide), and the period in which patients lose the ability to perform such tasks as driving and become dependent on others for daily living.

In contrast with popular belief, the HSG report emphasizes that getting diagnosed actually reduces suicidal thoughts: “Receiving a diagnosis of a devastating fatal disease does not exacerbate, and may even alleviate, the risk of suicide.”

Dramatizing HD

We need to keep in mind that Private Practice is entertainment – not a documentary.

Clearly the creators of the program compressed Michelle’s experience into an extremely short period of time in order to dramatize the symptoms of HD.

All humans have a huntingtin gene with a series of components known as CAG repeats. Healthy people have ten to 29 repeats. Forty or more repeats signify that a person will develop HD. In general, the higher the repeats, the younger the onset.

My mother had 40 repeats, and so do I. Evidence demonstrates that this level of defect will lead a person to develop the disease roughly between his or her late forties and mid-fifties.

Michelle has 43 repeats and already has strong symptoms at age 30 – possible but unlikely.

She occasionally displays dance-like movements in her arms, a sign of the classic symptom of HD known as chorea. Amelia describes her as having “tremors, rigidity, seizures.”

Symptoms, but no hope

In debating assisted suicide with fellow physicians, Amelia points out that Michelle’s prognosis is not good. “What if you were seizing and drooling and losing control of your muscles, of your bowels, of your mind?” she says. “Would you want to stick around for that?”

Another doctor counters that Michelle is still “lucid” and “functional” and can get assistance from a support group and other HD services.

These symptoms appear to be accurate, at least in the long haul of an HD person’s existence.

However, as I observed about the Dear Prudence column, the Private Practice episode also fails to note the immense gains in research that would certainly give someone like Michelle reason to hope for a treatment or even a cure in her lifetime.

Ending a life

On the day of the incident, Michelle lies on a couch as Amelia prepares to administer the medications that will halt her life. Amelia explains that after Michelle dies, she will call the police. She warns Michelle she might end up in an irreversible coma.

“I don’t want to get you in trouble,” Michelle says with worry in her voice.

“I don’t want you to suffer,” Amelia responds sorrowfully but with determination to help her friend.

After the aborted first attempt with Amelia’s help, Michelle expresses doubt about her decision to die. She displays an apparently renewed desire to live, and even a bit of humor in a conversation with Amelia.

However, apparently still despondent about her situation, she ends her life.

Testing and planning for the future

The program and especially the research articles about HD can serve as an important starting point for the HD community to discuss openly one of the most difficult of issues: suicide. As the program illustrates, for an HD person and his or her physician, assisted suicide involves questions of health but also of moral values.

As I pointed out in the article on Dear Prudence, gene-positive individuals can contribute immensely to the quest for treatments and a cure.

After testing, I became “Gene Veritas,” the truth in my genes. If you are an at-risk individual, you can discover your own truth – and plan for it accordingly.

I believe that in my personal case, I would have had more suicidal thoughts had I not been tested.

Obviously, a decision to test is a highly personal one. But, with the increased understanding of HD resulting from research, it’s time for our community to see it in a new light.

Feeling mortal

At the same time, I admit that I deeply fear the moment of onset. I realize – from reading the HSG study but also in consulting my heart – that the fear of becoming a “gimp” could potentially lead me to act like Michelle.

We all deny death on a daily basis. Without that denial, we couldn’t function as individuals and as a civilization.

After my mother’s diagnosis, I was forced to confront the idea of a horrible, early death. I have learned to become especially skillful in my use of denial.

But how will I perceive my life when the inevitable onset begins? I dread that moment.

Watching Private Practice and writing about it have once again left me feeling painfully insecure – and mortal.

Monday, October 31, 2011

Huntington’s disease in the news and entertainment media – Part I: Stigma and genetic testing

Despite its status as an orphan disease unknown to many, Huntington’s disease occasionally comes into focus in the mainstream news media and the entertainment industry.

HD’s biggest exposure came March 18, 2007, when the Sunday edition of The New York Times featured a long page-one story on 23-year-old Katie Moser, who had tested positive for this devastating, deadly brain disorder and was confronting her fate.

On September 15, 2011, HD entered the discussion again in a Dear Prudence column titled “Deadly Family Secret.” Emily Yoffe, the author of the advice column for the online newsmagazine Slate, responded to a young mother who had just learned that her newborn baby boy was at risk for HD. (Click here to read more.)

The writer, who signed her letter to Prudence “So Devastated,” recounted how, a week after the birth, she learned that her mother-in-law had HD. Thus the young mother’s untested husband has a 50-50 chance of inheriting the disease, and, if he indeed has the abnormal gene, the baby would face the same risk.

That letter once again highlighted how stigma, denial, and ignorance plague the HD community (click here to read more).

Some sound advice

Yoffe provided some excellent commentary and advice, though, as noted below, I found other aspects quite frustrating.

As an HD-positive person, support group member, and 2011 Person of the Year of the Huntington’s Disease Society of America (HDSA), I completely agree with Yoffe that the mother-in-law should have informed her son about his at-risk status, especially given the fact that her own mother had died of HD.

The young mother and her husband are now racing to educate themselves about the disease and its consequences – an anxiety-ridden situation they could have avoided, or at least planned for, had his mother revealed the family history of HD in a timely manner. They could have arranged for PGD, or preimplantation genetic diagnosis, to assure that their baby would be born without HD.

From my own extended family’s experience with HD and my observation of many others in my 13 years as an HD advocate, I believe that full disclosure is always the best policy.

Yoffe recommended that the couple tap into the resources provided by HDSA and its network of support groups and Centers of Excellence for Family Services and Research. She also advised that they consult a genetic counselor to discuss genetic testing for the husband, adding that the wife should inform an at-risk, pregnant cousin about her aunt’s diagnosis. With that knowledge, the cousin can test the fetus for HD.

A deliberate decision

Also, I was deeply relieved to read Yoffe’s advice to the young father that “there is no rush about making that choice” about his own genetic testing.

My own experience with testing supports this approach.

After learning of my mother’s diagnosis the day after Christmas 1995, I wanted to get tested immediately. But after speaking with my mother’s geneticist and becoming involved in the HDSA-San Diego support group, I learned that I should not rush into testing. Testing presented enormous risks involving job security, insurability, and my psychological health. Ultimately, I waited until 1999, when my wife became pregnant, to learn my fate. In 2000 our daughter tested negative for HD in the womb.

The omission of research

However, I disagree with other aspects of Yoffe’s response.

She omitted, or perhaps didn’t know, that a man often passes on a worse form of HD, sometimes causing a gene-positive child to develop juvenile Huntington’s disease. Thus the mother’s failure to inform “So Devastated” and her husband presents potentially even more devastating implications for their new family.

While Yoffe properly described HD as a “particularly cruel” condition, she failed to mention the huge strides made in research to combat the disease. That research provides immense hope for people such as “So Devastated” and her extended family (click here to read more).

A skewed view of testing

As a result of this omission, Yoffe presented a skewed view of genetic testing.

In referencing HDSA guidelines, she wrote that “there is almost never a reason to test a young person for the disease, which tends to strike in middle age.”

Despite the highly appropriate caution about not rushing into testing, genetic testing does play an increasingly important part in the solution to Huntington’s disease. Simply put, scientists, physicians, and drug companies need at-risk, gene-positive, and affected HD people to participate in research studies and clinical trials in order to understand the disease more fully and to test the safety and efficacy of potential drugs. (Click here to read more.)

Testing for HD directly benefits the effort to find treatments to make HD manageable like diabetes or perhaps even to bring about a cure.

By getting tested, at-risk people provide hope – for themselves and for the tens of thousands of people around the world affected by HD.

Treatments ‘on the horizon’

Although many people in the HD community, as well as journalists, still have not perceived this message, it has now existed in the public domain for a number of years.

A prominent example came in September 2005, when Dr. Martha Nance, the director of the HDSA Center of Excellence at the Hennepin County Medical Center in Minneapolis, responded to my own deep fears about HD by demonstrating in a Washington Post article that “treatments for neurodegeneration [brain diseases] are on the horizon.”

Similarly, as I have illustrated with my own experience, at-risk and gene-positive HD people have given testimony regarding the importance of research studies and clinical trials.

Testing no longer just a personal matter

Yoffe’s Dear Prudence column on HD effectively personalized how a “deadly family secret” can devastate successive generations. It reminds us of the urgent need to end the stigma associated with HD (and, by extension, with other neurological diseases).

Rightly so, Yoffe points out the great importance of sharing the truth about a genetic test with other family members and taking advantage of the information and services provided by HDSA.

However, I believe that HD and genetic testing are no longer just personal matters to be interpreted and confronted alone. They involve and impact the entire HD community – including the mutually beneficial, inextricable ties between the researchers and the patients (and potential patients like me and that letter-writer’s husband and son).

To defeat HD, we can never forget the big picture of our quest.

(In Part II, I will reflect on a recent episode about HD and suicide on the TV show Private Practice.)

Friday, October 21, 2011

Huntington’s disease and the financial jitters

As I’ve written before, living with the deadly gene for Huntington’s disease is like a high-wire act. Fearful that HD’s terrible symptoms could start any time, I walk the tightrope while juggling job, family, HD advocacy and, along with my wife, our finances.

As I have described in a number of articles since beginning this blog in January 2005, HD is a killer of dreams. Although the threat of HD has caused me to grow in many ways and to enjoy life more fully, it has also led us to abandon many plans, including having a second child after we went through the trauma of testing our first baby in the womb. (She tested negative and today is a healthy eleven-year-old.)

If it weren’t for the specter of HD, which took my mother’s life in 2006, I could have advanced much further in my career. My wife and I could focus on saving for retirement rather than building up an “HD war chest” to compensate for the deep losses in income expected after the onset of symptoms forces me to stop working in the near future.

I’m almost 52, the age at which my mom already had symptoms.

Turning the crisis to our favor

The fear of HD has caused us to fret about our finances. We agonize over big purchases, and even bigger decisions such as refinancing our home turn into weeks- and even months-long discussions.

Our fears increased greatly in the recession that began in late 2007 and got much worse in 2008.

Like many Americans, we were reeling from the stock market crash, which eroded our savings. We were stunned at both the enormity of the crisis and the massive stimulus program, financed with borrowing from foreign sources.

But, hopeful about a recovery, we sought to turn the short-term crisis to our long-term advantage.

In 2009, during the early months of the administration of President Barack Obama, we took advantage of extremely low interest rates to refinance the mortgage, taking out extra money to build a swimming pool and carry out other home improvements. (I jokingly referred to the project as the “Obama stimulus pool.”) The risk was well worth it: the huge savings from the lower interest rate made the pool affordable, and I took up swimming again to bolster my brain against HD onset.

Economic pain

In a state with a real unemployment rate of more than 20 percent, we were thankful to have jobs.

However, we started to feel the economic pain not long after we took our first swim in the pool. For the first time in nearly two decades as a university professor, I received no raise during the 2009-2010 academic year. The next year my wife, a teacher in the San Diego school district, took a 3.7 percent pay cut that remains in effect. Like many others facing pay freezes and cuts, we’re also paying more for benefits.

To compensate for the lost pay, the school district cut five days off the school year and cut hundreds of millions of dollars from its budget. Now, with California sinking ever deeper into crisis and forcing additional school cuts of tens of millions of dollars, the San Diego district leadership may cancel even more classes. Last week, the superintendent declared that the district might need to declare itself insolvent. Teachers will likely face further salary cuts.

As we feared yet another drop in family income, my wife and I also worried about the quality of education our daughter is receiving in the public schools. We quickly became frustrated with the middle school that she entered in September. Class sizes are large (36 per class), and the school does not offer placement tests to ensure that all students have access to the proper level of instruction. It offers only a few honors sections.

Frustrated and convinced that the school crisis will last for many years, my wife and I decided that our daughter will apply to private schools.

Extending beyond our reach?

Annual tuition and other expenses at these schools could cost as much as $30,000. To afford it, we would need to forfeit all saving for retirement – the biggest portion of our HD war chest. Because we put pre-tax dollars into retirement, every dollar we stopped saving would be taxed at about a third. That would make the real cost of the most expensive private school closer to $40,000.

That was getting well beyond our reach, especially when we also need to save for our daughter’s college expenses.

Once again, we decided to refinance our mortgage in order to borrow enough money to pay for about half the cost of six years of private school (grades 7 through 12).

Because we refinanced for the pool, this time we must max out on the mortgage: we will be borrowing about 75 percent of the value of the home. We bought the house in 1999 and saw its value more than double during the real estate boom of the early to mid-2000s. Even in today’s depressed market, it’s still worth about two thirds more than the original price, thus allowing us to take out substantial cash upon refinancing.

In addition, interest rates have dropped to near historic lows. We’ll have a rate below 4 percent – a bargain when compared to forfeiting saving for retirement and the HD war chest.

Risk exposure

Nevertheless, unlike the pool project, this round of refinancing has left me with the jitters. Taking out such a big loan, with a mortgage payment of hundreds of dollars more per month, conjures up memories of how little disposable income we had after our first property purchase in 1994. That was before we learned that my mom had HD.

The future of our economy seems even more uncertain than it did in 2009.

And I worry about exposing the family to too much financial risk precisely as I progress towards the probable onset of HD.

In fact, as I write this article, it seems like sheer lunacy!

How will we pay for private school and a bigger mortgage, save for our daughter’s college and our retirement, build the HD war chest, and run the household if I must go on state long-term disability, which would pay, at most, only 65 percent of my salary (this income, at least, would be tax-free) and run out after age 65? I might be able to supplement disability with Social Security and Medicare benefits, but, as I wrote earlier this year, HD people struggle to obtain, and are sometimes even denied, those benefits.

Helping while I can

It’s a huge gamble – but one that we feel we must take.

It only makes sense when I remember that we are providing for one of the best investments in our daughter’s future: an excellent education.

Born HD-negative, she was our “miracle baby.”

But she is no longer that baby. She stands on the verge of adolescence – and is now only five years away from filling out her college applications.

She is HD-free, but could still feel the disease's impact because of the stark possibility that I could become disabled and therefore less able to support her during her high school and college years

I desperately await news of the key research breakthrough that will save me from the dementia and other devastating symptoms of HD. I want to see my daughter graduate from college and build a life of her own.

If HD prevents me from enjoying those moments, I will at least have done my part to help her get there while I could still help.