A gene-positive dad’s reflections on Huntington’s disease, parenthood, and the fragility of life

Our “miracle daughter” Bianca, who tested negative in the womb for Huntington’s disease in early 2000, recently turned 13.

As my wife Regina and I have watched Bianca transform before our very eyes into a teenager, I have contemplated the beauty and fragility of this miracle of life.

Bianca’s latest birthday was doubly special: she became a teenager, and we again quietly gave thanks for her gene-negative status.

Had Bianca tested positive for HD, she might now be facing the scourge of juvenile Huntington’s (JHD), a particularly cruel form of the disease caused when a gene-positive parent, usually the father, passes on a more severe form of the genetic mutation, causing onset to occur as early as the toddler years.

JHD strikes while a person is still developing physically and neurologically. JHD can cause considerable pain, and some patients require operations for problems such as deformed limbs.

Few JHD patients survive beyond the age of 30, and some die during childhood.

Whenever I witness JHD families’ terrible struggles, I breathe a sigh of relief that we as a family avoided such an immense burden on top of my race against the genetic clock.

Nobody’s exempt from life’s challenges

However, as a father striving to provide Bianca with a safe, stable, and promising upbringing, I know that freedom from HD doesn’t mean freedom from life’s other risks. Regina and I must still help her negotiate not only the successes, but also the many challenges that lie ahead – and to know when to step back and let her handle them on her own.

We’re also aware that each day illnesses of all sorts, genetic and otherwise, strike many teens and young adults. The other day I learned that a friend’s son faces an incurable, though partially treatable genetic disorder. My heart sunk when I learned of the difficulties that await this young person.

The HD community faces many tribulations, but so many others suffer, too. Understanding this helps Regina and me to put our family’s situation in perspective.

Genetics, families, and ethics

Child-rearing provides the key to understanding a major human purpose: propagating the human species and aiming toward a brighter future.

Today the study of genetics and the search for treatments for life-threatening genetic conditions such as HD constitute a new human purpose but also new, ever-more-nuanced definitions of conception and the family.

Regina and I faced the terrible possibility of bearing a child with the HD gene. In 1999, preimplantation genetic diagnosis (PGD) wasn’t possible. Today it helps families eliminate HD forever from the family line

In the Genomic Era, families can take advantage of new scientific tools, but use of these tools also forces us to confront new ethical and moral questions.

Best strategy: honesty

Regina, Bianca, and I rarely discuss HD as a family matter, but it does frequently come up in the context of my advocacy as a volunteer for the Huntington’s Disease Society of America (HDSA) and writer of this blog.

In 2012 and 2013 the three of us took part in the local annual HDSA Hope Walk to raise funds and awareness.

Kenneth (left), Regina, and Bianca Serbin with Allan and Jane Rappoport, the Serbin Family "Beat HD" Team in the 2012 HDSA-San Diego Hope Walk (photo by E. J. Garner)

Bianca has also read several articles from this blog.

Responding first to Bianca’s curiosity about my mother Carol’s illness and eventual death from HD in 2006, I have always answered her questions about HD with explanations appropriate for her age at the moment. In so doing, I have relied on my knowledge of the science of HD and other families’ experiences with its social impact – but also on my gut.

Seeing how denial, stigma, and discrimination tear apart HD families – including parts of my own – I have always adopted a strategy of openness and honesty in discussing Huntington’s with not only my daughter, but other members of my extended family and my “HD family.”

New vistas

Parenting never ends. It requires constant attention, patience, and spousal teamwork. Each stage in the child’s life is unique and demands creativity and receptivity on the part of the parents.

During our vacation in Europe last month, Regina and I made a special effort to open up new vistas to Bianca and become closer to her. She is striving to become independent, but, even though she may not admit it, she still needs and wants parental love and attention.

Now, as we prepare to return to the routine of school, I feel great pride in Bianca’s good health and accomplishments.

However, I also worry about the many challenges of the teen years, and I wonder increasingly about her rapidly approaching young adulthood. She is just five years from entering college!

Strengthening bonds

I feel extremely fortunate to have so far avoided the inevitable symptoms of HD. An HD-free life has allowed me to enjoy my HD-negative daughter and protected her from having to confront living with a symptomatic dad.

As I await potential treatment breakthroughs, I savor every moment.

With each passing day, I become ever more conscious of the fragility of life.

However, as long as I enjoy good health, I will work to the utmost to strengthen my bonds to my family and to share the demands and joys of parenting with my wife.

The Team Hope Walk: reinforcing the first line of defense against Huntington’s disease

In the fight against Huntington’s disease, hope begins at home.

That’s the message I took away from yesterday’s inaugural Team Hope Walk of the San Diego Chapter of the Huntington’s Disease Society of America (HDSA-San Diego) after my family’s team traversed the 3.1 mile route. It was the first time my wife, my eleven-year-old daughter, and I participated together in an HDSA event.

We walked to honor the memory of my mother, who succumbed to HD in 2006 at the age of 68, and my father, her “HD warrior” caregiver, who died with a broken heart in 2009.

Civic leaders Allan and Jane Rappoport, long-time supporters of HDSA-San Diego, joined our team. They are close friends and our daughter’s surrogate grandparents – an especially important relationship because her lone surviving grandparent lives in Brazil.

Below I’ve posted our team picture, another family milestone: it’s the first time I’m presenting a photo of my wife and daughter to the readers of this blog. I’m taking one more big step out of the “HD closet,” a long and emotionally trying process that began almost two years ago with my first public speeches about my family’s struggle with HD.


The Serbin Family "Beat HD" Team: Kenneth Serbin (left), Regina Serbin, Bianca Serbin, and Allan and Jane Rappoport (photo by E. J. Garner)

So often eroded by the fear, stigma, and denial that accompany HD, such togetherness at the starting line provides the love and strength that sustain families in the long, arduous journey with this fatal disorder.

The Team Hope Walk held special significance for me because I am gene-positive for Huntington’s. At 52, I have reached the age of my mother’s onset. Each moment without symptoms is a precious gift – and a beautiful reminder of how our daughter tested negative and can thrive as she approaches adolescence.

As I walked alongside my family and friends, I felt protected by my family and the Rappoports. All of us renewed our hopes that researchers would soon find effective therapies for HD.

Striking a balance between elite and grassroots events

In all, 34 teams and more than 200 walkers took part in the event.

In the 1990s and early 2000s HDSA focused on simple, family- and community-based events such as hoop-a-thons and walks. However, as the organization grew along with the demand for research dollars in the quest for therapies, its emphasis shifted towards elite fundraisers such as galas with expensive tickets and pricey auction items. In this respect, HDSA-San Diego excelled, bringing in several hundred thousand dollars some years with signature events such as the Celebration of Hope Gala and the Shoot to Cure HD.

For financial or health reasons, HD people and their families often couldn’t participate in the signature events.

Responding to grassroots accusations of aloofness and recognizing the need to draw families into the organization, HDSA now seeks to strike a better balance between big fundraisers and community-oriented events. (For background on HDSA issues, please click here. You can also learn more by listening to Melissa Biliardi’s March 27, 2012, interview with HDSA CEO Louise Vetter by clicking here.)

Since the inception of Team Hope in 2007, the walks have spread to 80 cities across the country. HDSA reports that these events have raised more than $3 million.

Bringing families under the umbrella

Yesterday’s San Diego walk raised nearly $30,000, well above the goal of $25,000. Presenting sponsor Vertex Pharmaceuticals donated $2,500, recruited a team of nearly 50 walkers, and staged a pre-event fundraiser at its San Diego facility. Elmcroft Senior Living also donated $2,500 and set up a large team. Elite Security contributed with an additional 48 walkers. A number of local businesses supported the event with gifts of raffle items, food, and supplies, and the Lawrence Family Jewish Community Center (JCC) provided tables, equipment, and other items.

Lundbeck, the title sponsor of the Team Hope Walks program, has provided a substantial educational assistance grant to HDSA at the national level.

Nan Pace, a JCC manager, served as event co-coordinator along with health researcher Misty Oto. Both women serve on the HDSA-San Diego board.

Above, San Diego Team Hope Walkers, and, below, walk co-coordinator Nan Pace (second from left) with friends (photos by Gene Veritas)


“The importance of this walk was to give Huntington’s disease families in San Diego an opportunity to express themselves not only visually but through their families, by contacting them and letting them know that there will be fundraising and also bringing awareness to a very important cause,” said Oto. “It was so surprising to see new families that we haven’t been in touch with create First Giving pages, fundraise, and participate. Now we have new families that are under the umbrella of HDSA because of this event.”

The dream of participation

“This is the very first time that San Diego has offered an event that all people of all abilities could participate in,” Oto added. “All of our events have been centered on marathons, bike rides, and races that were a little bit longer, and where someone with Huntington’s could not participate or someone who had a family member with Huntington’s felt that the fundraising goals were a little bit out of reach.”

Registrants paid just $25 to participate.

For HD-affected individuals who could not walk the course, HD activist Silvia Gonzalez provided a ride on her three-wheeled motorcycle.

Silvia Gonzalez gives HD patient Hank Hahnke a ride at Team Hope Walk (photo by Gene Veritas).

“That was such a huge thing, because not only did they get to participate in the event, but they got to live out the dream of riding on a motorcycle,” Oto pointed out.

Local HD families “know that they have a voice, that we are paying attention,” continued Oto, whose mother died of HD several years ago. Oto tested negative for HD but has a number of affected relatives.

HDSA has “struggled” with the need to strike a balance between research and families, Oto suggested. The Team Hope Walk “unified in one cause” three key aspects of its mission: research, fundraising, and awareness.

Team Hope Walk co-coordinator Misty Oto running the charity raffle (photo by Gene Veritas)

Preparing for the challenges ahead

The San Diego Team Hope Walk brought out the very large extended Huntington’s disease family of this metropolitan area: HD people, asymptomatic gene-positive individuals like me, gene-negative HD family members, other family members, friends, corporate and local business sponsors, and key players in the search for therapies such as Vertex and Lundbeck.

I believe that, with the proper planning and exposure, the Team Hope Walks can help inform and galvanize the HD community for a major challenge as researchers ramp up to clinical trials for potential therapies: recruitment of individuals for research studies and clinical trials.

Without such participation, scientists cannot test potential remedies for safety and efficacy, thus delaying or even preventing the arrival of treatments.

Ultimately, Team Hope involves families in the fight against HD. Families are the first line of defense – and the seed of hope.

Let’s turn grief for ‘HD Angels’ into new impetus for the Huntington’s cure

The Huntington’s disease angels are sending us all an urgent message: we must redouble the effort to find effective treatments and a cure for this devil of a disease.

In the past few days, two more HD angels – children who have succumbed to this disease – have passed on.

On January 11, nine-year-old Kathleen Edward died while surrounded by loved ones in her Wyandotte, Michigan, home.

Kathleen and grandmother Rebecca (family photo)

On January 15 another child, twelve-year-old Olivia Ruggiano, died in Philadelphia.

While HD affects people of all ages, the ten percent of cases classified as juvenile Huntington’s disease (JHD) wrenchingly dramatize the disease’s crippling effect. Children and teenagers afflicted with JHD never experience a normal life. As in Kathleen’s and Olivia’s cases, some don’t even reach adulthood.

Together with Kathleen’s and Olivia’s families, the HD community grieves deeply: two young lives ended hopelessly.

Their deaths provide a startling reminder of the lack of treatments.

These HD angels want us all to cry out for increased funding for HD research – including the understudied juvenile onset – and a commitment from drug developers to broaden and speed up the search for treatments and a cure.

Two brave girls

In life, both Kathleen and Olivia had received an outpouring of sustenance from the HD community and beyond.

In 2010 a hateful neighbor, upset over a misunderstanding about a children’s birthday party, started feuding with Kathleen’s family. The neighbor bullied Kathleen on Facebook by posting a photo of the girl positioned over a set of crossbones. Another photo showed Kathleen’s HD-stricken mother in the arms of the Grim Reaper.

News coverage of the incident spurred donations to the family and expressions of support from around the world. Thanks to many generous individuals, Kathleen had the opportunity to go on a shopping spree – but only after first choosing gifts for her family members. (Click here to read more about this incident.)

“Olivia was a normal child who loved to wear frilly dresses with dirty knees while digging for worms,” Olivia’s mother Jennifer wrote on a fundraising site for the Delaware Valley Chapter of the Huntington’s Disease Society of America (HDSA). “Strong willed but always ready with a smile, giggle or hugs. She began showing developmental delays at 4 1/2, a slight lisp, uncoordinated, tripping a lot, dropping things.”

Olivia and friend at HDSA fundraising walk

“Then the focal seizures came, the first one being discovered the last day of day care before starting kindergarten,” Jennifer continued, referring to how Olivia would lean back and prop up her head, and then let her head drop into her lap. “We thought she was just being difficult or having selective hearing. Then they developed into stronger more intense seizures. Late in December 2007, right before Christmas she went into status (non-stop seizures).... Since then she has been on a spiral downhill.”

On a Facebook page titled “We All LOVE Olivia Ruggiano,” supporters and members of the HD community left Olivia a constant stream of encouraging messages as she struggled against the disease. Jennifer and other family members read the messages out loud to Olivia and, holding up a laptop, showed her the pictures people had posted.

Words of support

At Kathleen’s funeral on January 14, so many mourners turned out that the funeral home ran out of the flags fastened to cars in the procession to the cemetery, Rebecca told me via Facebook. Kathleen was buried next to her mother Laura Edward, who died of HD in 2009.

The Detroit Free Press ran two articles about Kathleen.

“Those who knew 9-year-old Kathleen Edward will never forget her infectious smile, one seen throughout her battle with juvenile Huntington’s disease,” one of the articles began.

The paper quoted grandmother Rebecca: “She suffered with this disease for a while, and she never complained,” Rebecca told the paper. “She was always happy, always smiling.”

You can watch a tribute to Kathleen in the video below.




After the two girls passed, scores of Facebook members expressed their condolences.

“We are all in mourning over Olivia leaving us,” one HD activist wrote on Olivia’s Facebook page. “Heaven is rejoicing to receive angel Olivia where she can be closer to everyone’s heart.”

“Know that we are with you in spirit,” another supporter wrote. “It’s going to be hard, but as Olivia was strong, you are also. Smile thru your tears. She is free. Love to all of you.”

News of the girls’ deaths and condolences also went out on other HD Facebook pages, including two dedicated to HD angels, Rebecca’s page, and Olivia’s mother’s page.

Viewing of Olivia will take place at Stolfo Funeral Home in Philadelphia 7-9 p.m. on January 19 and 8:30-10:30 a.m. on January 20, followed by a funeral Mass at 11 a.m. at Stella Maris Parish. In lieu of flowers the family requests donations be made to the Philly HERO Trust, P.O. Box 18008, Philadelphia, PA 19147.

Remembering the Ruggianos’ fight

In a phone conversation last night, Jennifer graciously recalled Olivia’s and her family’s fight against HD.

Jennifer started dating Ron Ruggiano in 1994, the same year his mother died of HD. Jennifer and Ron married in 1996.

As in many HD families, the disease was “a taboo subject in his family,” Jennifer said. But his mother’s death alerted Jennifer to the existence of the disease in the family. She contacted HDSA and learned what she could about the disorder, including the fact that a male could pass on a far worse form of the disease than he himself has.

Ron had not been tested for HD, so the couple knew that having gene-negative children was “a roll of the dice,” with a 50-50 chance of their children inheriting the defective gene, Jennifer recounted. In 1997 they had a daughter, Rania, who has not demonstrated symptoms of JHD (but has not been tested). Two years later, Olivia arrived.

Ron started to show the behavioral difficulties that often occur in the early stages of HD. In 2000, he was clinically diagnosed with the disease.

An astounding level of disease

On that fateful last day of daycare before kindergarten when Olivia had seizures, “she was speaking gibberish and not making any sense at all,” Jennifer remembered. “It just mushroomed from there. She was clumsy. She would fall down and trip a lot.”

Nevertheless, Olivia entered elementary school, where she participated in a small life skills class for the severely disabled. She stayed almost through the end of fifth grade.

Olivia (family photo)

“Sometimes she didn’t want to go to school,” Jennifer said, chuckling, “but she went. Sometimes she would fake her seizures. She was a smart little cookie.”

In 2007 both Olivia and her father finally underwent HD testing at Johns Hopkins University in Baltimore. Whereas a normal huntingtin gene has only ten to 29 repeats, Ron’s had 50 – ten repeats beyond the level that causes HD. Olivia had an astounding 109 repeats – a number that doomed her to childhood onset and an early death.

Olivia’s joys

Despite this terrible fate, Olivia strived to live like any child.

“She loved to dance,” Jennifer reminisced. “She loved to sing. She loved to watch musicals: of course, the Wizard of Oz, Grease, any kind of musical, Hairspray, all the Disney movies.”

Olivia also loved to help her mother cook and care for the home. She wouldn’t miss a chance to play in the pool at her cousin’s house or visit the New Jersey shore with her family.

Olivia was a “little devilish” in everything she did, Jennifer said. And she had a fascination with bugs. “She could spot an ant ten feet away,” Jennifer said, laughing.

With Ron unable to work, he received Social Security disability payments. Olivia further supported the family with her salary as a legal clerk in the Pennsylvania courts. A heavy emotional burden also fell onto Rania, as she watched her mother pay ever greater attention to Olivia.

The family dealt with HD as proactively as possible, Jennifer explained. In 2008 doctors gave Olivia a feeding tube to keep her properly nourished.

Meanwhile, in February 2010, Ron entered a nursing home, where, at 43, he struggles against HD.

A turn for the worse

Olivia’s health worsened dramatically in December 2010. She spent nearly the entire month hospitalized.

Just ten days after returning home, she developed an infection. “That’s when I made the decision not to take her back to the hospital,” Jennifer said. She decided that Olivia would live at home until she died.

Olivia continued to decline throughout 2011.

“She was on so many medications,” Jennifer recalled. “She was taking 40 milligrams of valium every four hours.”

Along with Olivia’s nurses, the family kept Olivia as comfortable as possible. On Thanksgiving Day, for example, they dressed her up in a pink dress and sweater and placed a pink flower in her hair. “Her nurses absolutely spoiled her,” Jennifer said.

Olivia at home on Thanksgiving Day, 2011 (family photo)

Olivia’s legacy

I asked Jennifer about Olivia’s legacy.

“She’s just another bright light,” she said, “another child that just fought … and fought … and fought.”

As an HD angel, Olivia will inspire others to fight – and will also contribute to the search for treatments and a cure. Months after undergoing genetic testing, both she and Ron donated cells for research. As Jennifer explained, researchers were able to make the cells from Olivia’s forearm reproduce and are hoping to induce them into becoming stem cells. Olivia’s cells could eventually end up in labs around the world that focus on developing treatments for HD.

Time for treatments

After learning about Kathleen and Olivia, my wife and I became saddened and distraught. Once again we relived the painful moments of 1999 and early 2000, when I tested positive for HD and we subsequently tested our daughter in the womb.

Our “miracle baby” tested negative, but had she inherited the HD gene, my wife would now face the terrible prospect of caring for two HD patients.

I became angry and depressed that HD had once again victimized families, and I feared that my own symptoms might start soon, leaving my unable to work and to enjoy my own family.

I also felt the urge to fight back.

“We must find treatments and a cure so that no more children suffer with Huntington’s disease,” I wrote on Olivia’s page.

The angels have fought bravely, but our community wearies as it sheds yet more tears of sorrow.

We need treatments now.