Deciphering signals from Huntington’s disease brains in the search for treatments

From coast to coast and around the world, scientists like Andrew F. Leuchter, M.D., and Michael Levine, Ph.D., are engaged in the quest for Huntington’s disease treatments.

During May, Huntington’s Disease Awareness Month, I want to call attention to the critical work of Drs. Leuchter and Levine on the West Coast. They exemplify the partnership of scientists and physicians with the HD community, aiming to advance potential remedies into crucial clinical trials.

Drs. Leuchter and Levine, faculty researchers at the renowned Semel Institute for Neuroscience and Behavior at the University of California, Los Angeles (UCLA), are collaborating on a project that could ultimately lead to new drugs. In the near term, they aim to understand more fully the electrical signals that naturally but abnormally emanate from the brains of HD patients and presymptomatic carriers of the HD gene mutation like me.

“Most of the brain’s energy goes to creating electrical gradients – electrical impulses – but we haven’t been very good at using that for diagnosis and treatment,” Dr. Leuchter said during a March 20 interview in his office at the Semel Institute. He and Dr. Levine aim to “decipher the signals that are coming out of the brain.”

The Semel Institute for Neuroscience and Behavior (photo by Gene Veritas)

Measuring brain energy

A psychiatrist specializing in depression and Alzheimer’s disease, Dr. Leuchter (pronounced LUKE-ter) frequently employs quantitative electroencephalography (quantitative EEG) to measure the energy emitting from people’s brains. One example: a group of 27 HD subjects he and others observed for a study published in 2010 and funded by CHDI Foundation, Inc., the nonprofit virtual biotech dedicated exclusively to the discovery of HD treatments.

Allan Tobin, Ph.D., at the time the head of UCLA’s Brain Research Institute and a senior scientific advisor at CHDI, had asked colleague Leuchter for assistance in finding HD biomarkers, signals that reveal the progression of the disease and/or the effectiveness of a medication.

As the number of HD clinical trials expands exponentially, the search for useful biomarkers has become one of the hottest areas in Huntington's disease research. (Click here to read about one new potential biomarker.)

As Dr. Leuchter pointed out, neurological and psychiatric disorders are “much more limited in diagnostic tests for the organ that we are studying than any other branch of medicine.” Cardiologists insert catheters into the heart, and gastroenterologists use scopes to view the stomach and intestines.

“If you’re a psychiatrist, we talk to people, which is great, but we don’t have physiologic tests that guide decision-making,” he added.

Scientists and doctors rarely put electrodes in living human brains or take biopsies of brain tissue. However, they have been measuring brain energy with EEGs for more than a century, Dr. Leuchter explained.

As he demonstrated in his lab (see photo below), today patients undergoing testing wear a cap with 35 separate EEG electrodes, or contacts, that touch the head. The attending researcher stretches the cap over the patient’s head. In contrast with the traditional EEG, which involves one-by-one placement of the electrodes on the head, this method is quick, efficient, and less burdensome to patients, he noted.

Above, Dr. Andrew Leuchter points out the electrodes on the EEG cap worn by research subjects. Below, he explains digitized EEG readings displayed on a computer monitor. (photos by Gene Veritas) 

“We find that this helps to standardize our measurements of brain activity, and that we can place the electrodes in about 15 minutes,” Dr. Leuchter said.

EEG is inexpensive, convenient, and easy to administer. Additionally, it does not expose patients to radiation or require them to lie inside a machine such as an MRI scanner, he noted.

“You can tote it wherever you like,” he said of the EEG device.

The brain’s pacemaker

As they had hoped, Dr. Leuchter and three other UCLA researchers discovered abnormal EEG readings in HD patients with just mild symptoms.

“But the really intriguing thing there was that, even in people who were gene-positive but premanifest, we could see differences in brain function estimated 15, 20 years out from diagnosis,” Dr. Leuchter said, referring to signals of future decline. “So we thought this could be something that could be useful for treatment development.”

As Dr. Leuchter explained, “the brain like the heart has pacemakers.” Healthy brains produce lots of high-frequency waves. Brain illnesses commonly result from changes in the firing of the pacemaker, resulting in a greater quantity of low-frequency waves.

“What we found is that years before people start to show symptoms with Huntington’s, they’re producing more low-wave energy,” Dr. Leuchter said. “So it’s a very subtle indicator that the pacemaker of the brain is starting to slow down.”

Scientists cannot predict the actual onset and progression of symptoms from EEG signals. However, as noted below, they did discover a correlation between the severity of genetic mutation and EEG readings.

Clear genetic impact on the brain

Furthermore, the team observed that, in contrast with healthy brains, the distribution of different types of waves across the different regions of the HD brains became more uniform. “The regions of the brain start to look more similar than different,” he explained.

Researchers have not yet discovered what this phenomenon means.

“We know that the brain has enormous functional reserve and that people call on every cognitive and emotional resource they’ve got to try to keep everything functioning at optimal efficiency,” Dr. Leuchter continued. “I don’t think we know what’s compensatory and what’s an early sign of illness.”

Reflecting on another facet of the research, Dr. Leuchter explained that, in general, brain function tests do not correlate with genetic factors.

However, he and his team did find a correlation between the degree of HD genetic mutation and the severity of the changes in the EEG readings.

“Nobody had seen that,” he recalled. “We got excited about that, and that’s what we’ve been trying to follow up on.” These findings will contribute to the search for biomarkers and treatments, as explained below.

Examining brain tissue

A neurophysiologist and veteran basal ganglia researcher, since the late 1960s Dr. Levine has studied these deep, inner parts of the brain that control such actions as voluntary movements. He began to study HD in the 1990s as genetic mouse models with HD-like symptoms became available. His lab has published more than two dozen papers about these mice.

The nuclei of the basal ganglia are significantly compromised in HD, especially in the striatum. Specifically, Dr. Levine has examined how neurons communicate with each other in the cortex and striatum at cellular and molecular levels using tissue from the HD mouse models.

One of the latest techniques for studying the cells in the HD mouse models is optogenetics, in which specific types of brain cells are stimulated with light.

“I can look very closely at mechanisms,” Dr. Levine explained. “I know which types of neurons I am looking at and how they change at a very mechanistic level.”

Michael Levine, Ph.D., veteran HD researcher (photo by Gene Veritas)

Two key goals

Melding approaches, and with the expectation of CHDI support, Drs. Leuchter and Levine now seek to answer two important questions.

The first involves comparing EEG data from both mice and humans to refine the search for biomarkers. Researchers have already made the key discovery of EEG signals common to mice and humans.

“It’s actually pretty uncommon in science that you can see a very similar signal across species, that you can see something very similar in the brains of humans and the brains of animals,” Dr. Leuchter said.

If the Leuchter-Levine project confirms the degree of that similarity, that could mean  potential drugs tested in mice could ultimately be used for human clinical trials, Dr. Leuchter observed.

The second question focuses on the testing in HD mice of a CHDI-developed compound aimed at lowering the amount of mutant huntingtin protein, the major culprit in the disease.

“If we do see a link between lowering of mutant huntingtin and change in the EEG biomarker, this could be used to develop a number of therapeutic agents,” Dr. Leuchter said. “A whole line of research could develop out of this.”

From molecule to the whole brain

Drs. Leuchter and Levine estimated the project will take two years to complete.

As Dr. Levine put it, researchers hope the CHDI-developed compound will restore the EEG signals in HD patients to normal.

Dr. Leuchter reflected on the significance of the project and his collaboration with Dr. Levine: “The fact that in something like Huntington’s disease you’ve got a protein that is affecting how the nerve cells are functioning and altering the way they produce and utilize energy – it’s really a gateway to understanding the connection between what is going on at the deepest molecular level of the cell and what we’re able to see with the brain waves the individual is putting out. We can actually potentially link everything going from the level of the gene all the way to whole-brain function.”

In another potential future project, Dr. Leuchter would like to obtain EEG readings from asymptomatic gene carriers over two to three years to better measure the changes in signals over time.

Drs. Leuchter and Levine (photo by Gene Veritas)

Participation and a positive attitude

Both researchers expressed gratitude to the HD community and fellow HD researchers for their dedication to the cause.

“There are not that many people with this illness, so people get asked a lot to participate in different studies where they’re poked or prodded or scanned,” Dr. Leuchter said. “We are very grateful to those who are so generous with their time, because without their help we could not conduct these research studies.”

Dr. Levine added that he is impressed with the “very positive and sharing attitude of the investigators who do research in HD and who are looking to help the patients.”

While interviewing these two researchers, as an individual racing against the genetic clock of HD, I was once again moved to witness the creativity and enthusiasm of scientists engaged in the quest to save affected families from the devastation of Huntington’s.

(Later this month: from the East Coast a report on Yale School of Medicine researcher Doug Rothman, Ph.D., and the mystery of the mitochondria in Huntington’s disease. Please remember during HD Awareness Month to donate generously to the Huntington’s Disease Society of America or the HD cause of your choice!)

The Huntington’s disease community can’t afford to lose momentum

The Huntington’s disease community can’t afford to lose momentum in the quest for treatments for this incurable disorder.

As I noted in my last article, fatigue can set in for advocates and family members. This is understandable, given the tiring demands of caregiving, the frequent feelings of hopelessness in the face of the “devil of all diseases,” and the immense challenge faced by scientists – and the population needed to participate in drug trials – in devising revolutionary drugs that reach the brain and prevent its cells from dying.

Interrupting my own momentum in writing a book in my field as a Brazil specialist, I summoned the strength to once again focus on HD. I traveled coast-to-coast twice in a little more than 72 hours to give a speech about a crucial upcoming HD clinical trial and to interview a prominent scientist engaged in the search for treatments. It was an intense time.

My trip on April 10 began inauspiciously, as a late departure from San Diego caused us to approach Atlanta as thunderstorms struck, leading the flight to detour to Birmingham, AL. Arriving in Atlanta close to midnight, I had missed my connection to Providence. After finally finding a hotel 20 miles from the airport, I could only sleep four hours. The morning flight to Providence also left late, because of tardy pilots.

Travelers do face such stresses, especially as service in the airline industry declines, but as a carrier of the HD gene mutation concerned about disease onset, I especially need to avoid them.

As it became clear that I would miss my 9 a.m. keynote talk on April 11 in Norwich, CT, Laura Kokoska, an advocate for the Connecticut affiliate of the Huntington’s Disease Society of America (HDSA-CT) whose mother has HD, helped me via cell phone calls and texts to calmly consider alternatives. She and another advocate, Val Kim, whisked me from Providence to Norwich, serving me lunch in the car. We arrived in time for me to speak in the last slot of the day.

The audience of some 30 was anxious to hear me provide an HD family member’s perspective on one of the most significant steps towards treatments since the discovery of the huntingtin gene in 1993: the Roche/Isis gene-silencing trial, set to start this year at several sites in Canada, England, and Germany.

HDSA-CT education event participants (from left to right): James McGann, Debbie Pausig, Gene Veritas (aka Kenneth Serbin), Laura Kokoska, Holly Broadbent, and Sue McGann

A historic attack on the genetic roots

I first explained how my mother’s demise from HD and my positive test for the genetic mutation in 1999 led me to delve into the science of Huntington’s disease. Then I described how since early 2008 I have tracked the program by Isis Pharmaceuticals, Inc., to stop HD at its genetic roots. In 2013 Isis partnered with the pharmaceutical giant Roche to prepare for a gene-silencing clinical trial in HD.

“This trial is a historic trial,” I said. “It’s a big moment in the history of our community, and also in the history of science.”

Isis and Roche aim to test a drug known as an antisense oligonucleotide (ASO). “That’s a fancy term for basically saying it’s an artificial piece of DNA,” I continued. “That is [a] ‘laser-guided missile’ that is supposed to go into the brain cells, and it will block the production of the huntingtin RNA and the protein.[…] The protein is what is causing the problems in the cell. They’re also thinking now that the RNA is also causing problems within the cell, that they want to cut down the amount of the RNA, too.

“This clinical trial […] is the first time that someone is going after the genetic roots of the disease,” I stressed. “That is an immense motive for hope in our community.” And that’s why I’m so excited about the project and follow it so closely.

Being realistic

I showed PowerPoint slides of photos of the Isis facility and the company’s scientists, including Frank Bennett, Ph.D., the senior vice president for research and the head of the HD project. I also noted the important support for the project from CHDI Foundation, Inc., and the lab of Donald Cleveland, Ph.D., at the University of California, San Diego.

I reminded the audience that enthusiasm must be coupled with patience: the HD community must recognize the time it takes to develop drugs and also brace itself for failures in the quest for treatments. This year Isis and Roche are initiating Phase I of the trial, aiming only to test the safety and tolerability of the ASO.

Potential Phases II and III would examine the drug’s efficacy. In all, it could take five years or more to complete all three phases.

“We have to be realistic,” I said. “Ninety percent of drugs that go into clinical trials do not make it to market.[…] It takes a lot of shots on goal before you finally get a goal.[…] We have to keep in mind that it’s a slow, painstaking, and deliberate process.”

You can watch my speech in the video below.

Hope for Huntington’s Disease Families: The Isis/Roche Gene-Silencing Clinical Trial from Gene Veritas on Vimeo.

Returning to Yale

After the event I rode to New Haven with Debbie Pausig, a marriage and family therapist, grief counselor, and HDSA-CT support group leader. Debbie recently published An AffaiR Worth Remembering With Huntington’s Disease: Incurable Love & Intimacy During an Incurable Illness, a memoir of her relationship with her late, HD-stricken husband. Debbie capitalized the “r” in “affair” – and it’s reversed on the cover of the actual book – to emphasize the many unusual twists in her story.

Later I visited the campus of Yale University, my alma mater, and ate pizza at an old haunt. It was only the fourth time I’ve returned to Yale since graduating with a B.A. in history in 1982. In 2012 I visited Yale to interview a number of scientists working on HD (click here to read more), including the preparation of clinical trials.

“Felt like an undergrad again walking through freezing campus,” I texted an old classmate while watching the students and remembering the exhilarating possibilities of youth.

In my hotel room, mixing in baking soda and Epsom salt from a care package put together by Laura, I relaxed in a hot bath. As Laura put it, the bath would help my body recover from the traumatic plane trip.

Gene Veritas (aka Kenneth Serbin) outside Wall Street Pizza (formerly Naples) in New Haven

A science tour and lunch with old friends

The next morning I took a tour of Yale’s Magnetic Resonance Research Center with its long-time director, Doug Rothman, who received his Ph.D. from Yale in 1987. A professor of diagnostic radiology and biomedical engineering at the Yale School of Medicine, Dr. Rothman is one of the world’s leading pioneers in research in MRI, magnetic resonance spectroscopy, and quantitative neuroscience with magnetic resonance.

A future article will detail my interview with Dr. Rothman about his research into key questions about the mitochondria, the powerhouses of our cells, and their role in HD.

I lunched with classmate Paul Bass and his wife Carole (Yale 1983), two former colleagues on the Yale Daily News and accomplished journalists in New Haven. The Basses have long served as confidantes.  

Paul’s innovative online community newspaper, the New Haven Independent, was one of the first sites to link to this blog, and Carole blogged for the Yale Alumni Magazine about my definitive exit from the HD closet in 2012.

I welled with emotion at seeing my old friends, hearing good news about their lives and young adult daughters, and sharing my joy at having remained asymptomatic beyond my mother’s age of onset.

Paul and Carole Bass (photo by Gene Veritas)

Supporters of the HD cause

That evening in New York I dined with another Yale friend, Norman Oder (class of 1983), and his girlfriend Maryanne. A journalist, editor, and founder of the watchdog blog Atlantic Yards/Pacific Park Report, Norman urged me to start this blog and has edited virtually every piece since its inception ten years ago.

During my 24 hours in New York, Norman and I had several deep conversations about my future health, the destiny of this blog, and numerous aspects of the HD movement. He is my “HD alter ego.”

On April 13, I had lunch with yet another classmate, Adam Glick, a businessman and philanthropist who has generously supported the HD cause. Adam’s real estate company owns the Parker Palm Springs, the hotel in Palm Springs, CA, that expertly hosts the annual, CHDI-sponsored HD Therapeutics Conference when it takes place in the U.S.

I gave Adam a rundown of the 2015 conference, which I attended. We also discussed the “nocebo effect,” the idea that the expectation of illness can bring on symptoms even though a person is not ill.

I told Adam that last year two major supplements – coenzyme Q10 and creatine – thought to have potential for treating HD were proven ineffective. I speculated that my belief in these supplements’ efficacy might have contributed to my lack of symptoms.

Quiet resolve

At Maryanne’s suggestion, I visited the Museum of Modern Art (MOMA) to view the special exhibition of Jacob Lawrence’s series of paintings about the great migration of African-Americans from the rural South to the urban North in the mid-20th century.

This significant event in our nation’s history is forgotten by many. As a professional historian, I was both intrigued and moved by the tempera paintings depicting the hardships of African-Americans in the South and the brave decision by millions to uproot themselves to find a better life.

My teenage daughter, a first-year high school student, had asked me to take photos of murals in New York. I didn’t have time to search for murals, but Lawrence’s paintings are mural-like and tell a vast story. I will soon show them to her.

Visiting MOMA gave me a break from the HD-laden aspects of my trip. Yet I could not help but draw a parallel between the quiet resolve of the migrants and the yearning of the HD community for liberation from the yoke of Huntington’s disease.

Through such resolve we can maintain the momentum necessary for defeating HD.

The African-American South-North migration of the mid-20th century as depicted in one of the paintings of Jacob Lawrence (photo by Gene Veritas)

(I wish to thank the individuals and organizations that organized the conference and sponsored my trip: Sue McGann, HDSA-CT, and the Wireless Zone Foundation.)

(Disclosure: I hold a symbolic amount of Isis Pharmaceuticals stock.)

Hope of clinical trials creates new, proactive outlook on Huntington’s disease

A diagnosis or positive genetic test for Huntington’s disease has always meant a terrible, prolonged death sentence. However, the vast, growing body of knowledge about the disease and the genuine hope of clinical trials have opened the door to a more optimistic, proactive outlook on HD.

That’s the message I’ve transmitted in recent speeches, including one titled “Genuine Hope for Huntington’s Disease Treatments: New Ways of Thinking about HD,” the keynote for the event “Living with Huntington’s: An HD Education Day,” held by the North Carolina Chapter of the Huntington’s Disease Society of America (HDSA) on May 12.

“It was a very, very hopeless situation,” I told the audience in describing my mother’s diagnosis with HD in 1995 and my positive test for the condition in 1999. We in the HD community kept hearing that there was no “effective way of stopping Huntington’s.”

In recent years, however, the increase in research and the promise of potential treatments have brought about “the transition from hopelessness to hope.”

Read on for a summary of the speech’s main points. You can also watch it in the video below.

2012 North Carolina HD Talk from Gene Veritas on Vimeo.

Our lives are not lost

I drove home the idea of hope by discussing the worldwide effort to end HD and the imminence of potential trials, including the one aimed by Isis Pharmaceuticals, Inc., to silence the HD gene and expected to begin by late 2013 or early 2014, and, if successful, to result in a drug perhaps by 2020.

“These are real people in the labs,” I emphasized, showing a photo of Isis scientists at the company’s Carlsbad, CA, facility. “We think of scientists as people in these white coats, maybe wearing really thick glasses, or having really pointy heads, sitting in a lab. But they’re everyday people just like all of us, and they want to see the treatments.”

“It’s time for a new outlook,” I continued, recalling the HDSA slogan “let’s make this the last generation with HD.” “That seemed like a dream ten or 15 years ago, but now I think we’re closer to that becoming a reality.”

Rather than slip into the old, depressing notion that HD is untreatable, we now must embrace a new phrase: “HD will be treatable.”

“It’s more and more a question of not if, but when this is going to happen,” I said, noting that scientists are now “genuinely optimistic” about potential treatments. “We need to tell ourselves everyday: there is hope, and my life is not lost.”

A more proactive view of genetic testing, self-care

Because of the hope provided by research, fear of genetic testing “can and should diminish,” I observed. Gene-positive people can plan for the future by maximizing their physical, emotional, and spiritual health and putting in order matters related to insurance coverage, career, finances, and family planning.

They can and should also participate in current or future trials requiring gene-positive, asymptomatic participants, I said.

“You can give back to the community at large by participating in the search for treatments,” I added.

“So yes, testing is scary, there’s no doubt about it,” I said. “But I think now testing is ultimately proactive. I think we need to turn around the way that people think of testing as something so intimidating and scary, a life-ending experience.”

Overcoming denial, spurring participation

I began and ended the presentation with a reflection on the roadblocks to our success.

“We know that there are a lot of HD families that could not make it here or didn’t want to be here today,” I said. “Part of the reason there aren’t more people in the room is because we struggle in Huntington’s with a terrible stigma, and along with that stigma comes shame, fear, and one of my worst enemies of all, denial.”

Denial affects all of us because it discourages the participation in clinical trials and therefore hinders scientists from effectively testing potential treatments.

To engage others in the process, we cannot preach or harass, but must pursue a gentle approach. Most importantly, we need to live by example, to keep telling our personal stories, “opening your heart to others” and educating them about the trials.

“We need to live optimistically, on a daily basis,” I concluded. “Yes, HD is a terrible cross to bear. But I think that knowing we can be part of the solution, that we can help the scientists, help the doctors find a treatment, this is something that gives us a sense of purpose, gives us a sense of being part of something larger than ourselves. It’s not just me, it’s not just my family. It’s people around the world who are affected by Huntington’s, and other conditions.”

(For additional thoughts about the new outlook on HD, please click here.)

SuperTerry destroys the evil monster Huntington’s disease

Fifteen-year-old San Diegan Terry Leach wants to destroy Huntington’s disease, the condition that has devastated him since his toddler years and threatens to take his life very soon.

Terry’s story deeply moved San Diego artist Lee Ellingson to imagine a different outcome. In Lee’s Superman-like comic-book-style rendition (below), Terry has overcome HD by becoming “SuperTerry.” SuperTerry knocks out Huntington’s and saves the world from the ravages of the deadly disease that afflicts an estimated 30,000 Americans and could devastate as many as 250,000 more Americans who live at risk.

SuperTerry is vigorous, powerful, and triumphant. He beams with the joy of restored health and newfound happiness that the real-life Terry – along with every other victim of HD and juvenile HD – hopes for as scientists seek effective treatments and a cure.

“Wouldn’t it be great if this Huntington’s disease was like some kind of monster and Terry had super powers and could defeat the monster?” Lee told me in an interview. “That was my idea. It just kills me that a kid like Terry can have a disease like this at such a young age.”

Lee recently learned of Terry because of his own son Arnold’s struggle to live. Terry and Arnold attend the same after-school care program for disabled children and teens.

Arnold, who turns 13 later this month, was born hydrocephalic, a condition once known as “water on the brain.” He had an emergency operation immediately after birth to insert a shunt that drains fluid from the brain. He has had 23 more operations to adjust the shunt. Arnold also has autism and cerebral palsy.

Although Lee has made drawings for Arnold, SuperTerry is his very first piece illustrating a disease. He was shocked to learn that HD can affect children.

“He’s aware of what’s going on, but his body doesn’t do what it should be doing,” Lee, whose work includes background layout for the 1990s TV series Attack of the Killer Tomatoes and pieces for the San Diego Museum of Natural History, said of Terry. “That’s what’s especially heartbreaking for me. He’s a normal 15-year-old kid inside.”

Lee imagined the monster by thinking of the horrors of HD.

“He’s kind of like a blob,” Lee said. “He’s transparent and green. Slimy! I just wanted him to look real mean.

“I’ve always been pretty religious, but seeing all these kids really tests your faith,” Lee continued. “Kids like Terry and Arnold are the closest things on earth to an angel. Terry will never steal or cheat or rob or hurt anyone.”

Lee made the illustration based on photographs. On August 2 the two met in person for the first time at a fundraising event for the San Diego Chapter of the Huntington’s Disease Society of America (HDSA-San Diego). Lee presented Terry with the illustration.

“Terry was very appreciative of the picture,” his mother Angela told me. “He liked it a lot.”

Lee Ellingson (left) and Terry Leach

A feeding tube, operations, and looming death

SuperTerry HD treatments are needed now.

HD patients constantly struggle to maintain weight because they burn large amounts of calories and suffer from severely hampered swallowing. In 2010, in an end-of-life measure, the real Terry started taking meals and water through a feeding tube connected several times each day to a surgically produced hole in his abdomen. Before the operation, he weighed only 67 pounds. He now weighs 100, enough to help extend his life but still way below the average of 126 pounds for a 15-year-old male.

Terry’s body reacts to the hole as if it were an ulcer, causing him to produce large amounts of saliva that he wipes away with a towel constantly at hand. Doctors will inject botox into his salivary glands to diminish their output. He’s also gotten botox in his arms and legs to relieve pain.

Terry has undergone leg and foot operations to further relieve pain and tightness, correct deformities, and allow him, with assistance, to occasionally leave his wheelchair and walk. (For further background on Terry, please click here and here.)

Terry 

Because he can’t talk, Terry partially communicates through a language program on his iPad, which allows him to interact with people as the device’s speaker pronounces words and phrases that he selects. He takes regular classes at Madison High School, where he is starting tenth grade. Last fall he made the honor roll by carrying a grade-point average of at least 3.5. In middle school he received a number of other awards.

Terry loves computer games. During my visit to the Leach household, he played Club Penguin while I spoke to his mother for 90 minutes.

 “He’s always happy,” said Angela, a single parent who depends on Medi-Cal and other programs for financial assistance and, when she misses work because of Terry’s medical appointments and crises, the generosity of her employer, the San Diego Convention and Visitors Bureau. “He’s always wanting to give me a hug. And he’s so strong. He deals with everything and never quits fighting. He never complains, either. He’s always wanting to help. Everybody that knows Terry sees the light within him.”

However, Angela knows that, unless treatments become available very soon, Terry will die of HD. Recently a cousin of Terry’s with juvenile HD died at the age of 23. Other juvenile HD patients die in their teens or even childhood.

Angela Leach with the original drawing of SuperTerry (photo by Gene Veritas)

Raising awareness, saving the children

Knowing how little time remains for Terry, both Angela and Lee want to use SuperTerry to raise funds for HD research and increase awareness about HD and the difficult issues surrounding it.

Lee plans to expand SuperTerry into a comic strip and perhaps even a graphic novel about HD. Angela hopes to sell SuperTerry t-shirts in collaboration with HDSA.

“I don’t want any fame or glory,” Lee said. “I just want to help raise money. I want Terry to be the star.” As research progresses, science will also find ways to cure other diseases, too, he added. Such research could also benefit Arnold.

Above, San Diego Chargers football stars Philip Rivers (left rear) and Antonio Gates with Arnold Ellingson (left foreground) and Terry at HDSA-San Diego fundraiser in spring 2012. Below, friends Arnold and Terry enjoy Disneyland together.

Angela hopes that her and Lee’s efforts will help inform HD families about the option of genetic testing so that couples can avoid passing the disease onto their children through the use of preimplantation genetic diagnosis (PGD) or in the event of pregnancy – and depending on the couple’s personal and religious beliefs – early termination of the pregnancy. She wants SuperTerry to “save the children” from HD.

“I would never want another mother to go through what I did,” explained Angela, whose husband at the time (now an HD patient living in a nursing home in Indiana) did not tell her about the disease in his family until after Terry was born and the husband himself developed symptoms. HD families need to “get more proactive” about testing and family planning, she added.

“Terry’s life shows you what you face if you take a chance” by conceiving without all of the information, genetic counseling, and other resources available to HD families, she said.

“It would be best to be proactive to minimize that situation,” Angela continued. “It’s a lifelong situation. I’ve watched Terry grow up and deteriorate. There are so many challenges. We’re forever fighting.

“I don’t want his life to be in vain,” she concluded, recalling how an old friend’s son who had been in baby photos with Terry was now an imposing teenage football player. “I was happy for her, but it broke my heart. That could have been Terry. He could have been a football player. Or at least talk.”