Medical Hero Story: Jillian McNulty, Cystic Fibrosis Advocate

Born with cystic fibrosis, Jillian McNulty has spent her entire life fighting to stay healthy.

It was only during a clinical trial, when she tried a new medicine called Orkambi, that she met with success. Since then, she’s been fighting for other cystic fibrosis (CF) patients to have access to the drug too.

One of four children, McNulty’s oldest brother had cystic fibrosis and died when he was five-and-a-half. Her prognosis wasn’t good either. When she was born, doctors told her parents she wouldn’t live past her fifth birthday. She’s now 43 and jokes that she has geriatric CF, and is grateful to be alive.

Last hope
Over the years, McNulty has suffered from recurring pneumonia, and sometimes spent 8-9 months out of the year in the hospital.

“I didn’t have a great quality of life,” she recalls, noting her condition was at its worst in 2012 after her other brother, who had special needs, died. She was able to run a marathon before her lung function dropped from the high 50s (percent) to the 30s. She became dependent on IVs and antibiotics.

Fortunately, McNulty qualified for the Orkambi clinical trial, which required her to have lung functioning in the 40s and to not be hospitalized for four or more weeks.

She got emotional when she got the news that she qualified. “I can remember I cried my eyes out because to me this was my last chance, my last hope. Things started to turn after that.”

Though she struggled for the first four months of the trial, at six months her hospitalizations started to decrease. But things took a turn in 2016, when she contracted swine flu and influenza A at the same time. Her lung function was down to 11 percent. Things were grim, but McNulty pushed on.

Changing lives
“Orkambi brought me back from the brink,” McNulty says, explaining it took three months to recover.

She says the drug, which is manufactured by Vertex, works on the underlying cause of CF, a life-threatening disease that affects approximately 75,000 people in North America, Europe, and Australia.

“It’s not a cure but it tweaks the channels so our bodies respond better,” says McNulty, whose lung function is now at 42 percent.

These days, she spends only six weeks a year hospitalized. But now she’s struggling with end-stage kidney disease, another chronic condition she’s had for years, and needs a kidney transplant. But before that, she needs a lung transplant.

Still she’s optimistic about her future and the future of other CF patients.

“It’s all changing. People with CF are going to live so much longer,” says McNulty. “That’s incredible.”

The CF advocate
For the past 11 years, McNulty has campaigned for CF patients in her native Ireland, including lobbying the Irish government to make sure Orkambi and other medications were made available for CF patients. Her campaign was successful and she obtained “pipeline” approval for 10 years of promised accessibility to the drug.

“My friends were dying and I couldn’t stand by and say nothing,” says McNulty, who’s won three awards for her advocacy. “I needed people to see what Orkambi had done for me.”

She’s also been instrumental in campaigns related to the hospitalization of CF patients, helping ensure they get single-unit hospital rooms to prevent them from being exposed to other sick patients while their immune systems were so compromised.

Her advocacy continues on, and she urges patients with CF and other conditions to participate in clinical trials: “It’s worth the chance, it’s worth the risk. It has the potential to transform your life in ways you can’t imagine.” 

To search for medical conditions in a specific location visit our Search Clinical Trials page.

To stay informed about clinical trials, visit our Resources page.

 

Medical Hero Story: Shauna Whisenton

Shauna Whisenton was once an individual living with sickle cell disease (SCD). Now she’s an advocate for better therapies, a cure, and better under-standing of SCD.

Whisenton, now 41, was born with SCD, a painful, inherited disorder where red blood cells are misshaped, restricting blood flow and oxygen to parts of the body.

“It was all going pretty well until I had my third son,” she says. “Then my health started to take a turn for the worse.”

While nursing, she was admitted to the hospital every few weeks and, despite best efforts, was not replenishing enough fluids for her body to function properly and had major organ complications.

Her doctor asked her to consider a bone marrow transplant clinical trial to cure SCD.

Whisenton didn’t believe she could be cured and some members of her family were unsure if she should undergo the treatment. For many in the minority com-munity, there is a fear that medical testing may exploit patients instead of helping them. However, clinical trial oversights ensure safety during participation.

After consulting an SCD patient advocate, she realized, “Although a cure is not guaran-teed, this could be an amazing opportunity. If that is not possible for me, researchers could learn something from my participation to save others.”

Finding a donor

The best chance for a donor match would be a family member. Whisenton lost her parents when she was a child and her sister wasn’t a match; but her 9-year-old son, Dorian, was a 50-percent match.

A successful transplant meant a better life for Whisenton and her family.

“I felt like my children had suffered enough watching my pain,” she says.

Whisenton’s son had marrow extracted from his pelvis bone. It was a one-day procedure for him but the start of a two-year ordeal for his mother.

 
Journey

Whisenton’s journey was tough. She was hospitalized, received anti-rejection medications, and had to undergo was an important part of procedure preparation and recovery. This included coordinated care to provide relief from the symptoms of her disease and the transplant, including pain and detoxing from opiates, but also the physical and mental stress from the procedure.

“It’s important to equip someone who’s received a curative therapy with tools to rebuild their lives during and after recovery,” she says.

Within nine months of receiving the bone marrow transplant, Whisenton was SCD-free and now only carries the trait.

Whisenton calls the date of her transplant her birthday.

 
Patient advocate
 

Whisenton has made it her life’s work to help those living with SCD. She’s the manager of sickle cell disease community engagement for the ASH Research Collaborative (ASH RC) Sickle Cell Disease Clinical Trials Net-work (CTN), established by the American Society of Hematology, the world’s largest professional society concerned with the causes and treatments of blood disorders.

Whisenton is carrying out the mission of the ASH RC CTN to improve the lives of individuals with SCD by expediting the development of new therapies through innovative clinical trial research. Whisenton ensures that the voice of the patient is heard at all stages of these clinical trials.

“SCD warriors, don’t lose hope. There are many treatments in the pipeline to help those living with this disease have a better quality of life. Our hope is that advances in research will bring more effective treatments to individuals living with SCD.” 

To search for medical conditions in a specific location visit our Search Clinical Trials page.

To stay informed about clinical trials, visit our Resources page.

Medical Hero Story: Rachel Patties, Congenital Generalized Lipodystrophy Advocate

Oklahoma Mom on a Mission Reflects on Daughter’s Rare Diagnosis

Rachel Petties, a mother of five, refuses to let her daughter’s rare genetic disorder define the lives of their family.

From the moment she first laid eyes on her daughter, Rachel Pet­ties knew something was wrong.

“Alani was all muscle,” she recalls. “She had no body fat whatsoever. Her head size seemed abnormal, and her belly was very large. She was stiff and cried all the time.”

It was the beginning of a diffi­cult journey.

“I ended up dragging my infant baby girl in and out of hospitals, doctor to doctor, specialist to spe­cialist,” Petties says. “You have no idea what loneliness is until you have to pack your child up, hop on a plane and trust someone to help you when you know no one else believes you.”

Receiving the diagnosis
In 2015, Alani was clinically diag­nosed with congenital general­ized lipodystrophy.

“My world crashed, and I’m still recovering from the loss,” recalls Petties, a single mother of five. “Receiving her diagnosis was a bit­tersweet moment – my suspicions were confirmed, but I was very sad because what was wrong with her was worse than I expected.”

Alani, now 4 years old, was enrolled in a long-term clinical trial program at the National Institutes of Health to evaluate her treatment and find improved ways of treating the disease through pre-screening and other medical advances. The hope is to prevent future complications by identifying and addressing problems early on.

“She’s a patient for life,” says Pet­ties. “I’m extremely encouraged. Alani has elite specialists study­ing her case. She’s monitored closely and watched by top profes­sionals in the field.

“We have to travel once a year to Bethesda, Maryland for a host of tests that usually last 2-3 days. It’s a very stressful time for us, but we know it’s necessary.” 

Finding the strength
Petties’ days are long and exh­austing. She must prepare special foods for Alani and is the only fam­ily member trained to administer crucial injections.

“It’s very isolating, and I’m afraid of what will happen if I’m ever physically unable to give her this medicine,” she says.

Restricted mostly to the ind­oors, Alani can be awake for 24 hours and sleep for 15 hours str­aight. Her home must be bleached daily to fight germs, and she must be monitored for exces­sive eating.

“Before gaining some control over this disorder through the clinical trial she’s cur­rently on, Alani would eat the paint off the walls, erasers, socks and soap;’

Petties says Although she’s cut back dramatically to focus on her kids, Petties is committed to getting the word out about lipodystrophy.

“I woke up every morning with the mentality to outrun this disease,” she says. “I ran state to state, city to city, advocating with every ounce of life in me. We marched in Washington and visited senators’ offices, petitioning for their help.

“Sometimes you’ll want to fight, other times you won’t care one bit. I had to teach myself that it’s important to be okay with all those emotions and just get through the day, because every day Alani wakes up is another day this disease didn’t win.”

Alani, who enjoys dancing and performing karaoke, knows she’s different and doesn’t care, accord­ing to her devoted mom. And although weary, Petties herself finds beauty in the darkness.

“I am rare,” she says. “I am a mother of a child who holds a title of 1 in 10 million. That by far is nothing to be sad about. She is incredible and unique, and she’s all mine.” 

To search for medical conditions in a specific location visit our Search Clinical Trials page.

To stay informed about clinical trials, visit our Resources page.

Medical Hero Story: Rachel Minnick, Passionate Clinical Trial Volunteer and Advocate

Remembering Rachel Minnick

Rachel Minnick dedicated much of her life as a medical hero. We honor and remember her legacy. 

Diagnosed with stage 2 breast cancer in 2013, the wife and mother of two fought back fiercely against the disease with double mastectomy, chemotherapy and radiation. She participated in a clinical trial. And she worked tirelessly to educate others about their treatment options and the clinical research process.

“Rachel was always pro research, pro clinical trials,” says her husband, Pete Minnick. “She always had that mindset ‘we’re on the cutting edge of medical breakthroughs and technology,’ and she wanted to be on that cutting edge.”

Her cancer was in remission from 2014 to early 2017, until she began experiencing pain in her back and neck. It was at this time that her doctors informed her that the cancer was back and had spread to her bones. “That was a huge blow to us,” Pete says, noting it was stage 4 cancer. ”She knew she wasn’t going to be cured.”

In early 2018, the cancer spread to Minnick’s Iungs and liver. She was actively looking for her next clinical trial when she passed away in April, at age 39, but her legacy lives on.

Meaningful work

Prior to her cancer spreading, Minnick took a position as a Senior Manager of Marketing and Patient Engagement Alliances at The Cen­ter for Information and Study on Clinical Research Participation (CISCRP), a non-profit dedicated to educating the public and patients about clinical research. 

She was passionate about her job for many reasons not only was there a focus on the patient com­munity but it also allowed her to work from her Philadelphia-area home which gave her the oppor­tunity to continue her medical care as well as spend time with the couple’s children, Emily and Sam, now ages 9 and 7.

Being a part of CISCRP was more than a job for her.

“She felt like she was helping the entire clinical trial community as well as doing something she liked,” says her husband. CISCRP gave her the opportu­nity to offer hope to other people who were in her same situation.

Personal experience

“Rachel had direct experience which gave her such an inside perspective,” says her former boss, CISCRP founder, Ken Getz. “It fed her compassion and helped her understand, even more deeply, what so many patients are going through.” Getz says Minnick’s leg­acy lives on through her work; the panels she moderated, the clinical trial awareness initiatives that she spearheaded, her collaborative projects, and the enduring educa­tional brochures, newsletters and other patient communications that she wrote during her time with CISCRP.

“Her passing was truly a shock to me,” says Pete Koerner, a phar­maceutical industry colleague, who worked with Rachel and the CISCRP team for two years.

He described Minnick as some­one who was always enthusiastic, passionate and dedicated to her family, her staff and her work.

“She was invested in clinical research,” says Koerner, explain­ing Minnick was proud to be the patient voice and wanted to advance the techniques and technologies in the clinical trials process.

“She felt like she was helping the entire clinical trial commu­nity.” Getz reflects on Minnick’s lasting impression, “Her compas­sion combined with her profes­sionalism and the passion that she brought to CISCRP has inspired so many people – those who reported to her, those who she mentored, and those with whom she col­laborated. That will stay with us forever. She truly helped to define our culture and evolve it in such meaningful ways.”

To search for medical conditions in a specific location visit our Search Clinical Trials page.

To stay informed about clinical trials, visit our Resources page.

Clinical Studies Are Building a Brighter Future for People With Deafness

A mother and son share their experiences at the forefront of cochlear implant clinical research.

We’ve all seen the viral videos online of children born deaf hearing their parent’s voice for the first time and lighting up with glee or breaking into sobs at the foreign sensation of audibility. But what many of us do not realize is that behind that technology, be it a common hearing aid or a cochlear implant, were ambitious researchers and a brave group of patients willing to give it a shot in a clinical trial.

Today, hundreds of thousands of clinical trials and studies are ongoing, and they may lead to the next big advancement in restoring lost hearing or improving the quality of life for those individuals living with it.

Living proof
Years ago, Sonia Morreale didn’t hesitate to sign her son, Justin, then 8, up for a clinical study on how children who grow up with cochlear implants tend to fare in language and comprehension. “I wanted to know that information,” she shares. “And I knew that it would help not just my own child, but that [the researchers] would be giving this information to other parents.”

As the results suggest, and as Justin demonstrates, growing up with cochlear implants isn’t as limiting as many may suspect. Now age 16 and living with two cochlear implants to correct the genetic profound deafness he was born with, Justin has over a 4.0 GPA, is enrolled in AP and honors classes and is in the process of getting his driver’s license.

From the moment she heard Justin cry at the sound of her voice after receiving his first cochlear implant at age 2, Sonia knew the future held big things for her teen-age son. “It gave me a lot of hope.”

Selfless motivation
Dr. Laurie Eisenberg, professor of research otolaryngology at the Keck School of Medicine of USC, which conducts the study, says the Morreales’ inspiring story is one of many she’s seen in the 41 years she has worked in the field.

“Seeing a patient hear for the first time is always an emotional experience,” Eisenberg explains. She notes that while some patients may be hesitant to enroll in trials due to safety concerns or feeling inconvenienced about travel, those who do enroll are carrying out a selfless act.

“Many adults feel like, ‘If I can help a child, then maybe it is worth it,’” Eisenberg says. “It’s an intrinsic motivation that, ‘My experience and involvement in science can help others.’”

Sonia put it simply: “I just think that, as a parent, I don’t see any cons — I see only the opportunity for gain.” 

 

Article from our 2017 Clinical Trials Supplement, USA Today. Read more articles here >

Journey to Better Health Part 2

Play Video

Journey to Better Health is our traveling educational exhibit with the goal to raise awareness about clinical research. The video focuses on the importance of education, participation, and diversity in clinical research.

Journey to Better Health Part 1

Play Video

Journey to Better Health is our traveling educational exhibit with the goal to raise awareness about clinical research. The video focuses on the importance of education, participation, and diversity in clinical research.

Basics of Clinical Trial Participation

  • How new treatments are developed under specific requirements and different study designs
  • Regulatory oversight and guidelines are in place for the conduct of safe and ethical clinical trials
  • How clinical trials are adapting to make them more accessible for participants

General Clinical Research Overview

  • Overview of clinical trials and the process.
  • Different study phases, meanings and timelines.
  • Safeguards in place when participating in a clinical trial.