I am the DIFFERENCE

Katie and Mike were friends for years and then in college, something clicked. They fell in love. They had a daughter, and few years later, a son. Mike found his calling and became a Sheriff’s deputy. Life fell into place.

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Then Mike’s uncle called. Mike hadn’t been in touch with his father or that side of his family since he was very young and had moved to near Sacramento, CA. His uncle told him his father was dying from Huntington disease (HD).

“We didn’t know anything about HD, so I guess ignorance is bliss,” Katie said.

After Mike’s father died, he decided to get tested for the gene. Katie got the results that Mike was positive while he was at an officer’s funeral and wanted to wait to tell him until they were home. When she went to pick him up, he told her he was feeling positive about the results. He was sure he didn’t have it. Katie had to pull over and tell him because she couldn’t hold back the tears until they got home.

For a little while, life fell apart. Mike started behaving recklessly.

“Every HD family will tell you, you don’t know what the behaviors are from. You don’t know if the behaviors are from the diagnosis or from the disease,” Katie said. “Now I know it was the disease.”

It wasn’t long after Mike’s positive test that he started showing symptoms. It started with a finger that wouldn’t stop tapping. Katie didn’t recognize it as chorea at first because what she’d read about chorea was much more significant movements.

Realizing they needed more expert help than their primary care physician could provide, Katie and Mike started seeing Dr. Vicki Wheelock and the rest of the HD team at the University of California – Davis. There, they met Terry Tempkin, who was the clinical project manager. She was helping Mike to enroll in clinical trials, but his behavior was making it difficult. She told him he couldn’t do clinical trials and behave recklessly.

“I always tell Terry that she saved my marriage,” Katie said.

Mike’s behavior stopped, but his movements got worse. Thankfully, tetrabenazine had just been approved. It took three months to get the medication, but Mike was among the first to get it more than a decade ago.

Immediately, Katie turned to advocacy. Growing up with a brother with cystic fibrosis and a mother who worked tirelessly to make sure he got what he needed, Katie knew exactly how to fight for her husband and HD.

“Your power is to fight. You use your voice to tell your story for awareness and education,” Katie said. “You don’t know how strong you are until strength is your only option.”

Katie threw herself into advocacy, finding her way to Help 4 HD International. After years of exponential growth for the organization, she is now its president. Help 4 HD has taken on law enforcement education, ensuring officers understand HD and how its symptoms can put people with HD in precarious situations with law enforcement and how they can diffuse situations. Help 4 HD also fundraises for Juvenile HD, which is incredibly rare and gets little funding from private companies and the federal government. It is a communications partner with Huntington Study Group, helping HSG get the word out about its clinical trial opportunities. Katie hosts Help 4 HD’s weekly blog radio broadcast on topics ranging from long-term care and homelessness to basic science.

For her own family, Katie advocates participating in research. Mike has been in many observational and clinical trials, including ENROLL, Pre-CELL, CoQ10 and COHORT. And her kids have participated in HD Kids in Iowa. Katie said families are important for research and points to the polio epidemic.

“Can you imagine if the families didn’t fight it? AIDS, too. When you have strong advocacy, you can make a real difference,” Katie said. “What would research do without patient advocates? There would never be an FDA-approved drug.”

I am the DIFFERENCE

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By the time Chris O’Brien was born, his mother was already showing signs of Huntington disease (HD). He was the seventh and last of Alice and Dr. David O’Brien’s children, and like many of his siblings, he was born with a zeal for life.

In his junior year at Yale University, Chris and his father attended a medical meeting on HD, and it was there that he met Nancy Wexler. Dr. Wexler was working with a team of researchers trying to isolate the HD gene in a large family in Venezuela. Chris worked for her for a few summers at Columbia University, and he went with her team to Venezuela several times. On his last trip to Venezuela, there was a coup d’etat and everyone but Nancy left for safety reasons. Chris stayed to help and protect Nancy. “I never really get scared,” Chris said.

Meeting and working with Nancy opened up a whole other world of research to Chris.

“Nancy was my inspiration,” Chris said. “That’s when I decided I wanted to be an MD, PhD and be a neurologist.”

After the gene was isolated, Chris was tested and found out he had the HD gene. Eventually, the family learned that four of the O’Brien children had the gene. Knowing his fate didn’t change Chris’s plans. He was determined to complete his education and training, and along the way, he would also travel the world and climb mountains.

Halfway through medical school, Chris, his father, and his brother Mike climbed Mt. Kilimanjaro in Tanzania. Along the climb, the O’Briens, who are warm and generous people, became close with their young guide. The following summer, Chris went back to Tanzania, worked with the Peace Corps, and reconnected with the guide. At the end of the summer, he brought the young man back to the United States with him. He first stayed with David in the family’s home near Syracuse, NY, but after a few months, he moved to Philadelphia where Chris was attending medical school. (He has since married and has five children.)

That zeal for life also inspired Mike and Chris to hatch a daring plan to raise money for the Hereditary Disease Foundation, which Nancy Wexler’s father founded to help find a cure for HD. They decided to raise $100,000 by climbing Mt. Everest and becoming the first pair of American brothers to do so together. It was the last year of medical school for Chris, but he was determined to both graduate and meet his fundraising and climbing goal.

By the time the brothers made it to the mountain in the spring of 2005, they were still $85,000 short of their fundraising goal, but they were undeterred. Once they summited, they figured the money would come along with the publicity. Unfortunately, while climbing through the Khumbu Icefall, Mike fell into a crevasse. Chris rappelled down to try to save his brother, who was conscious for about 45 minutes but then stopped breathing. Chris and another climber performed CPR on him for two hours until a rescue team arrived from base camp, but Mike was already gone. The New York Times, and newspapers and newscasts all over the world covered the tragedy, raising awareness of their cause and topping their fundraising goal. In the end, Chris and Mike raised $350,000 for the Hereditary Disease Foundation from people all over the world.

Chris graduated from medical school and finished his PhD. He moved to Texas for his residency, but by his third year, in 2008-09, he couldn’t keep up anymore. The symptoms of HD had caught up to him.

“I didn’t think it would happen that early. I thought I would practice for a little while,” Chris said. But ever the optimist, Chris said that he wouldn’t have met his wife, Lili, if he hadn’t gone to Texas.

Chris continues to raise awareness of HD and attended the Huntington Study Group’s annual meeting in 2016, as a neuroscientist. He participates in HD research, having taken part in a trial for tetrabenazine and another for coenzyme Q, and he plans to stay involved.

“There’s always more to be done.”

I am the DIFFERENCE

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Early on in their relationship, Ann and David Nelson decided they would prepare as if Dave had the Huntington disease (HD) gene, but they would live as if he didn’t.

They travelled a lot. Greece, Italy, white water rafting in the Grand Canyon, camping, biking, scuba diving.

“Our friends used to say, don’t go on vacation with Ann and Dave because you’ll never get rest,” Ann joked.

And they planned. David changed his focus after medical school from neurosurgery to neuroradiology, lessening risk to patients, should he develop the disease. After a decade of marriage, they adopted a daughter, Claire, from China, instead of having biological children. Just in case. Three years later, they adopted Audrey.

It was about then that Ann started seeing signs of HD in her loving husband. She saw twitches in his fingers she never noticed before. At a family reunion, he stayed back in their condo the whole time. He didn’t want to be around the bustle and noise of the family. And he became irritable, a big change from his usually exceedingly agreeable personality.

Dave started complaining that his coworkers were out to get him. At first Ann was angry with them. Why would they be so awful to the hard-working 20-year veteran?

“In hindsight, they weren’t,” Ann said. “They saw changes that I wasn’t ready to accept.”

It got tougher for Dave to concentrate at work and his productivity declined. He had several negative interactions with his coworkers. In April 2007, he was given a choice: Resign or quit. Dave resigned and tried other, slower-paced jobs, but he just couldn’t keep up. Halfway through 2008, Dave stopped working all together.

The next five years of transition were difficult for the family. They had to adjust to having no income and with each new symptom or symptom progression, it forced the family through the cycles of grief again. Dave, like many people with HD, spent money he didn’t have. Once he bought a sports car, putting $20,000 on a credit card. He couldn’t even drive it home.

Audrey was very young when her father’s symptoms began. She doesn’t remember him without HD, which breaks Ann’s heart. But Dave doesn’t remember what he’s lost.

“That is part of God’s grace in this disease, and you have to embrace that and just move on,” Ann said.

The family has adjusted to their new reality. Routine is important, and after a terrifying incident at a New York City airport several years ago, Dave is judicious about taking his medication and seems content.

“He has let the cares of this world, fall away. In some ways, people who are able to do that, are lucky,” Ann said. “He’s not worried about being cared for. I’m here. We’re going to make it.”

Ann doesn’t dwell on what Dave has lost either. Dave isn’t in any pain, and for that she is grateful. When they were younger and so busy, Ann felt she didn’t slow down and enjoy the simple pleasures of life. She’s thankful she has the time with her husband to do that now, and she sets aside time to do that for herself too. She’s very active in her church, tapping into her faith for strength, and spending time with friends giving and getting support.

“I’m not chasing after the materialistic things that I used to,” Ann said. “There’s a richness to my life now that wasn’t there before.”

And she’s teaching those life principles to their daughters. Patience, love, empathy, always being there for your loved one.

I am the DIFFERENCE

No one talked about Huntington disease (HD) in Katrina Hamel’s house when she was growing up. No one told her that her grandmother took her own life because of it or that there was a biological reason for her mother’s anger.

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Katrina didn’t hear about HD until she and her brothers moved out and her mother, Allyson, moved from California to Connecticut with an abusive boyfriend. Katrina’s father told her that Allyson knew she had the genetic disease in her family, and she was sure she had it. Katrina couldn’t ask her about it because once Allyson got to Connecticut, she disappeared.

Years later, in 2003, Katrina heard her mother was back in California, pregnant and homeless. Although she was still angry at her mother, she wanted to help, so Katrina who was also pregnant, took in Allyson. Katrina had done some research on HD, but she didn’t find much. Her mother’s behavior was startling.

“It was a really crazy six months,” Katrina said. Katrina was working, running a household, parenting her daughter, and caring for her pregnant and ill mother. Katrina delivered her son, and two weeks later, her mother gave birth.

Allyson’s boyfriend came back and took her and Katrina’s half-brother back to Connecticut. Allyson was supposed to get in touch once they got back there, but like last time, her mother disappeared. Katrina decided to get tested, and she found she doesn’t carry the gene.

Six years later, Katrina, who had been searching for her mother for three years, found Allyson in a homeless shelter in Connecticut. However, the shelter couldn’t provide the level of care she needed. Allyson couldn’t shower or keep herself clean and the shelter didn’t have a medical bed. Katrina found out that her half-brother had gone into foster care and was eventually adopted. After several days of working with the shelter, Katrina connected with a retired airline worker there who volunteered to fly with Allyson back to California.

When Katrina last saw her mother, Allyson was functional and she didn’t have noticeable chorea. Most of her HD symptoms were behavioral and psychiatric. The formerly athletic woman was in a wheelchair when she came off the plane.

“She looked like a homeless person. Her hair was matted. She was emaciated. She smelled of nothing but urine,” Katrina said. “I couldn’t believe what was in front of me.”

Katrina took Allyson home and set her up in her older daughter’s room. She cut off the helmet of hair matted to her head, and to Katrina, her mother seemed happy to be back with her family. It took a couple weeks for the family to see the toll HD had taken on Allyson’s personality and her ability to withstand visits, noise, and spontaneous outings that come with living with a young family. She would get overstimulated and angry. They learned to keep things quiet and predictable.

Allyson was able to use a walker to get around in the house, and although she could feed herself, there was a lot of spilling. Her smoking habit got dangerous, setting her hair on fire several times. They moved to a larger house and gave Allyson a sunroom, which had a door that allowed her to go outside to smoke. Katrina lined the bottom half of the walls with plastic so they could easily clean up after meals. They covered her mattress to protect it from urine and set her up with a bedside commode.

Although Katrina worked in homecare, many of the safety issues HD presented were new to her. She waded through them, using trial and error to provide what Allyson needed. Even still, it was hard to avoid injuries, and Allyson refused to see a doctor. Katrina recalled that her mother once fell and hit the table, which was well padded, but it still cut her ear lobe badly. She wouldn’t go to a doctor and wouldn’t let Katrina call 911. Even if Katrina did, Allyson could refuse care.

“I was literally left with super gluing her ear back together,” Katrina said.

Katrina tried, several times, to call Adult Protective Services on herself, just to get some support and relief, but it never worked. “It was just me and my husband. I never had resources.”

Allyson got weaker and weaker. The happiest times for her was when her social security check would arrive and Katrina would take her to spend it. Allyson would get snacks and Jack in the Box and eat and eat and eat. But after an altercation while out, the police called in the mental health care team and took her to the hospital. Finally, Katrina had help. It wasn’t ideal, but it was help.

While staying in a nursing home three hours away, peppered with visits from Katrina and her family, Allyson dwindled away to just 80 lbs. Katrina, who was now running a hospice care home, knew her mother needed hospice. The hospice house allowed Katrina to sleep there and care for her mother. Allyson died, just 11 days later, with her daughter, two sons, son-in-law and grandchildren by her side.

“She struggled, the entire disease, she struggled,” Katrina said.

After Allyson died, Katrina’s older brother Kevin decided he needed to get tested. Katrina had been juggling so much with her mother’s care, her young family, and her career, she hadn’t seen her brother was already struggling. He was having a hard time keeping a job, his relationships kept blowing up, and he was easily frustrated over the simplest things.

When her brother’s test came back positive, Katrina bawled, but she was grateful that Kevin hadn’t seen the day-to-day struggle their mother had. And his course will be better. Because of Katrina.

Katrina knows home care, hospice, and through caring for her mother, she knows HD very well.

“I do believe some things happen for a reason. I feel like I was set up to be doing what I’m doing now,” Katrina said. “All of these steps led me to be able to take care of my family.”

And she’s not stopping there. While Allyson was still alive, one of the few places she was able to find support was with Help 4 HD. Since her mother’s death, Katrina has gotten progressively more involved in the organization and is currently the Vice President.

In addition, Katrina and her brother have both participated in research as a way to give back to the HD community.

“It definitely makes us feel like we’re contributing in a way we can at this point,” Katrina said. “We leave feeling like we’ve contributed to helping generations after this.”

CORY’S VOICE

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I came into this world a loving boy.

Ran and laughed and played with all my toys.

I was a normal kid until one day,

When my body and mind wouldn’t let me play.

As the days went by things got harder to do,

Just to eat, think and turn my head to look at you.

The one thing I want, but can not say, I love you each and every day.

As the clock on the wall Runs the time away,

I hear your voice fighting every day,

Find a cure for which my family has endured,

That one day we will find a cure.

I hear the scream and cries at night,

Take this away, we won’t quit the fight of the dreaded disease that had taken so much of me.

I am no longer in control, can you hear my pleas?

The strain on my body and my family alike,

We never give up the fight.

In hopes that one that we will find a cure,

And all the names of all the angels will do some good.

To rid this word of this strand of disease

The dreadful strand know as J.H.D.

-Written by Terry “Santini” Sargent Jr.
In loving memory of Cory William Sargent 2/16/94-12/12/15

I am the DIFFERENCE

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Theresa’s mother was in a car accident near her home outside Atlanta and doctors thought she might have had a brain injury as a result. Eventually, doctors figured out that she had Huntington disease (HD).

The adults in the family had a family meeting and decided they wouldn’t tell anyone outside the family. They turned to prayer for strength.

“It was confusing to us at first,” Rusty said. “We were caught off guard by the information and we didn’t have any idea what this disease was about.”

At the time, Theresa and her siblings didn’t have any desire to be tested. They’d all already had their children and, without a disease modifying treatment, they didn’t see the point in finding out whether they carried the HD gene. Rusty and Theresa’s daughters knew their grandmother was sick and had HD, but they didn’t talk about it.

“We kind of lived with that for a while,” Rusty said.

When Rusty and Theresa’s daughter Lacey was about 20, her two sisters started noticing movement issues in her. The family launched into gear. They went through genetic counseling and Theresa had the test done. It came back positive with 40 CAG repeats. Lacey got the test after her mother. Her test also came back positive, but her CAG repeat was 44.

“At the time that Lacey was diagnosed, she continued to work and she didn’t live with us,” Rusty said. “But as things progressed, she moved back home with us. She was still continued to work for a time, but then it became evident that she wasn’t going to be able to do that.”
By her mid-20s, Lacey progressed to the point that she couldn’t feed herself, stand or walk. But her smile is quick and her family is behind her.

“We have a lot of faith in our God and we both have family and friends and friends that are family that are praying for us, supporting us along the way,” Rusty said. They family is also pursuing all treatment options available for both Lacey and Theresa and trust their care teams at Emory and Vanderbilt.

In addition to a combination of medications to help with movement, Lacey also has a physical, occupational, and speech therapist to help her make the best of the abilities she has.

Theresa’s symptoms are very mild and she works in accounts receivable at a local hardware chain, where her coworkers and the owners are very supportive of the family. Rusty said he is blessed to be able to work from home. A caretaker is in the house during work hours to care for Lacey, but Rusty is nearby to assist, if need be.

“God’s taking care of us. We’re in this situation and He’s providing for us; He is walking through it all with us” Rusty said. “I know what we have had as far as people reaching out, praying for us, supporting us, I just don’t know how people without that can deal with it.”