Medical Hero Spotlight: Kimberly Dorris, Graves’ Disease Patient Advocate

Diagnosed with Graves’ Disease

In 2007, during a routine checkup, Kimberly Dorris received abnormal bloodwork results indicating lower-than-average levels of thyroid stimulating hormone (TSH). She was referred to an endocrinologist who, after conducting further tests including an ultrasound and radioactive iodine uptake and scan, diagnosed her with Graves’ disease.

“At the time, the diagnosis was surprising,” Kimberly recalls. “But looking back, I realize I had many of the classic symptoms but attributed them to other causes.”

At the time, Kimberly had been struggling with insomnia and tremors, which she chalked up to stress from her fast-paced job and too much caffeine consumption. She also experienced muscle weakness and weight loss but had not thought they were caused by an underlying illness.

Later, Kimberly would learn that this is a common experience for people living with undiagnosed Graves’ disease. Many mistake the symptoms for stress, menopause, or other illnesses – while others are misdiagnosed with depression or anxiety.

Choosing a Treatment Plan

Graves’ disease is an autoimmune condition where the immune system mistakenly attacks the thyroid’s TSH receptors. This causes an overproduction of the TSH hormones, resulting in hyperthyroidism and its associated symptoms.

Treatment options for hyperthyroidism caused by Graves’ disease include medication to regulate thyroid hormones, surgical removal of the thyroid, or radioactive iodine treatment to destroy thyroid tissue. At the time of Kimberly’s diagnosis, antithyroid medication and radioactive iodine were the two primary treatments. “Nobody was talking about thyroidectomy as a front-line treatment option back then.”

“Neither option sounded great,” Kimberly says. “The antithyroid medication came with potential side effects. My doctors made radioactive iodine sound easy: ‘destroy your thyroid, so you’ll have hypothyroidism instead, and then take another pill to balance out your levels.’ However, the reality is more complex for patients. The connection between RAI and thyroid eye disease wasn’t widely known back in 2007.”

When it came time to choose between medication and radioactive iodine treatment, an unlikely factor influenced the decision: Kimberly was about to leave on a vacation. Before scheduling an RAIU test or radioactive iodine treatment, Kimberly’s doctor required a low-iodine diet (LID) for two weeks. This diet is standard for differentiated thyroid cancer patients prior to treatment with RAI, but is not as commonly recommended for Graves’. The diet deprives the thyroid of iodine so that it is more receptive to treatment when it begins. For two weeks prior to the RAIU test, Kimberly prepared all her meals from scratch to ensure minimal iodine consumption. Kimberly told the doctor that she wouldn’t be able to start the LID until she returned home. She was given a prescription for a generic antithyroid medication for the duration of the trip to stabilize her levels, which gave her time to consider long-term treatment options.

“The methimazole started as a temporary treatment, but it turned out to be a really good thing,” Kimberly recalls. “The medication got me to a place where I felt better and could think more clearly about my treatment. I was doing very well on the medication, so I chose to continue with it after coming home and stayed on the drug for seven years.”

By 2014, Kimberly was successfully weaned off treatment, achieving normal thyroid levels. However, this stability only lasted for two years before she began experiencing symptoms of hypothyroidism.

“I have been having a long, slow slide into hypothyroidism for the last several years, which happens to about 15% of patients,” Kimberly explains. “Managing Graves’ disease becomes a balancing act where we are constantly being monitored to ensure we stay between hyperthyroidism and hypothyroidism without sliding into either.”
Becoming A Full-Time Advocate

About a year after her diagnosis, Kimberly attended a large patient advocacy conference from the National Graves’ Disease Foundation (now the Graves’ Disease & Thyroid Foundation) to learn more about Graves’ disease and connect with others in the community. From there, she became an active member of an online message board, sparking her interest in deeper involvement. She eventually became a support group leader for the GDATF and established a local group in her home state of Arizona.

In 2010, Kimberly took on an opportunity to do contract work for the foundation and later transitioned into the full-time role. Today, she serves as the Executive Director & CEO of the GDATF.

“The foundation has really grown since its start in 1990, now serving as a supportive community for newly diagnosed patients and as a credible resource of information,” Kimberly says. “Many people who find out they have Graves’ disease or thyroid eye disease will immediately turn to Google for answers, but wading through so much information can be overwhelming – and in many cases, can be dangerously inaccurate. GDATF ensures all the information shared with patients is vetted and recommended by doctors.”

Exciting projects are underway at the GDATF, including the completion of a 24-page print newsletter, intended to share with community members and distribute at conferences. Kimberly recently co-hosted a two-part webinar with the foundation’s founder, Nancy Hord Patterson, focusing on patient survey results about thyroid eye disease. Funded by Amgen (formerly Horizon Therapeutics), the survey explored patient experiences with various treatment options and the emotional impact of the disease.

“The survey findings shed light on the emotional challenges faced by thyroid eye disease patients, which is something physicians must acknowledge and address,” Kimberly notes. “For many, the physical changes caused by the disease can make social interactions stressful and exacerbate mental health issues like anxiety and depression.”

Advice for Patients

Drawing from her personal experiences navigating the healthcare system and her ongoing work supporting the Graves’ disease and thyroid community, Kimberly offers valuable advice to patients:

Know your family history.

“After my diagnosis, I learned my grandmother had a thyroid issue earlier in her life,” Kimberly shares. “I also had a cousin diagnosed with thyroid cancer. Patients struggling to receive a diagnosis should share as much information as they can about family history, even if it seems unrelated. I didn’t know then, but Graves’ disease and other autoimmune disorders tend to cluster in families, so if there is a history of different autoimmune disorders like rheumatoid arthritis, multiple sclerosis, and lupus among your family members, that is important to tell doctors.”

Understand your treatment options, including the risk and benefits of each option.

“Make sure your doctor is thoroughly explaining all treatment options, including their risks and benefits,” Kimberly advises. “Patients who educate themselves early on about their condition and treatment options are better equipped to understand their doctors’ recommendations and to make the decision that is right for them.”

Ensure your information comes from a credible source.

“With countless opinions and alternative treatments promoted online, newly diagnosed patients should consult their doctor or reputable organizations like the GDATF or the American Thyroid Association for reliable information,” Kimberly recommends.

Don’t be afraid to seek help for mental health issues.

“A Graves’ diagnosis can be emotionally challenging. Symptoms often mimic anxiety, depression, or panic disorder,” Kimberly acknowledges. “It’s essential for individuals living with Graves’ disease to seek mental health support if needed, rather than attributing all symptoms to their thyroid. Whether through an experienced counselor or participation in support groups, patients should not hesitate to seek help.”

Resources:

https://gdatf.org/ 

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.

For volunteer opportunities with CISCRP, visit our Volunteer page.

Written by Lindsey Elliott, Marketing & Communications Manager, CISCRP | lelliott@ciscrp.org

Medical Hero Spotlight: Noa Greenwood, Canavan Disease Clinical Trial Participant

Canavan Disease Diagnosis

Lee and Lori Greenwood welcomed their daughter Noa in August 2020. Born full-term and seemingly healthy, Noa’s first weeks of life passed without issue. However, at around 8 weeks old, Noa began crying much more than the average baby. Concerned she might have colic or a reflux problem, the Greenwoods took her to the pediatrician. Noa’s doctor determined she did not have colic but couldn’t identify the underlying issue.

Soon after, Lee and Lori noticed that Noa wasn’t responding to lights or movements and worried she had vision loss. “She wasn’t looking at us — she was almost looking through us,” Lee recalls. Around the same time, Noa stopped gaining weight and dropped from the 89th percentile to the 26th percentile in her age group.

Referred to an ophthalmologist, they again found no clear answer to Noa’s symptoms, and she continued to miss developmental milestones.

When she began struggling to swallow, the Greenwoods pushed for a consultation with a neurologist, initially meeting via Zoom. “Noa’s neurologist was wonderful,” Lori says. “She originally suspected hydrocephalus and recommended we bring her into the office. However, I could tell from her reaction to Noa that something else was going on.”

Noa was then scheduled for an MRI, which unfortunately took several months of waiting due to the pandemic. In the meantime, she received early intervention care via Zoom calls with different specialists.

In August 2021, a few weeks before her first birthday, Noa’s MRI appointment revealed that she had Canavan disease, a progressive, fatal, genetic disorder affecting the central nervous system.

“We received the news on Zoom,” Lee recalls. “Lori and I joined a video call having no idea that doctors were about to tell us our beautiful little daughter had a fatal disease with a life expectancy of around 10 years.”
Finding Community Support

After Noa was diagnosed, Lee and Lori began researching the disease, seeking information and support online. They found a patient advocacy organization based in Boston that supports children with Canavan and related diseases. This organization helped connect them to relevant Facebook groups and the Canavan community.

“Everyone has been incredibly supportive. They have all experienced the same diagnosis and understand what it’s like. Being involved in this community and patient advocacy has been immensely helpful for us,” Lori says.
Clinical Trial Referral

For most patients, clinical trial participation is only mentioned by doctors after standard treatment options are exhausted. However, there is currently no cure for Canavan disease and the only treatment is palliative care. For such an ultra-rare disease affecting only 1,000 children across the U.S. and the EU, research studies are hard to come by.

The day Noa was diagnosed with Canavan, a new clinical trial became available at Massachusetts General Hospital in Boston, only 30 minutes from the Greenwood’s home. Noa was immediately referred by her neurologist, and within weeks the family was in contact with the trial coordinator.

“Everything came together in a serendipitous way. The timing was right, the location was so close to us, and Noa met all the eligibility criteria to qualify for the trial, which many kids don’t,” Lee says. “It’s funny to think of yourself as fortunate when facing a disease like Canavan, but we really are.”

Since clinical research was one of the only ways Noa might be successfully treated for Canavan disease, Lee and Lori decided that joining a trial for gene therapy was the best choice for their family.

Starting Gene Therapy

Gene therapy corrects genetic information that causes illness by replacing a faulty or missing gene with a genetically engineered ‘vector’. In recent years, gene therapy has been transformative across many diseases.

Before starting treatment, Noa and her family spent a lot of time at doctors’ appointments and in the hospital for the screening process. Noa had multiple MRIs under anesthesia to ensure she would be suitable to receive this type of treatment.

In June of 2022, when Noa was almost 2 years old, she received treatment in the Canavan trial using gene therapy. Noa spent about a week in the hospital afterward and then took steroids for about six months. She continues to be monitored and has regular check-ins with her care team.

Patient Advocacy Work

Before Noa began the trial treatment for Canavan disease, Lee and Lori already understood the complexities of navigating clinical trials and the healthcare system through research and their backgrounds.

“Clinical trials can be complicated and intimidating for patients and their families, especially when there’s a power dynamic between patients and doctors that can make asking questions difficult. Many people, particularly in underserved communities, face additional barriers like language and cultural differences that we don’t,” Lori explains.

Since Noa’s participation in clinical research began, the Greenwoods have made it their mission to raise awareness for Canavan disease and empower other patients to ask questions and advocate for themselves.

“By sharing our experiences, we hope to help others feel more confident in navigating the medical system. We’re fortunate to have a supportive care team and feel a responsibility to share our journey to benefit others, not just Canavan families but anyone involved in the medical field. By sharing our story, we aim to remind those working in research of the real people they are helping,” Lee says.

“It’s important to remind researchers that when they are conducting trials, they are changing the lives of real patients. You’re not just working to treat Canavan disease; you’re working to help kids like Noa.”
Life Today for Noa & Her Family

Today, Noa is currently in the second year of the five-year clinical trial, and for the Greenwood family, the results have been incredible.

“When we found out Noa had Canavan, we never imagined that her life could be the way it is now,” Lori says. “We are so proud of her!”

Today, Noa’s parents describe her as a sweet and affectionate toddler who can walk independently, is learning her ABCs and how to count, and goes to public school every day with other children her age. Just two years ago, Canavan disease would have made these milestones unreachable for Noa.

The Greenwoods share that they are proud of Noa’s participation in the research that may one day cure Canavan’s disease, even if her treatment today is only the first step.

“We have had an amazing experience in the clinical trial with Noa so far, but we understand the nature of this disease. There is so much uncertainty —  her progress could reverse unexpectedly at any time,” Lee notes.
“But through this experience, we have gotten so much better at learning to embrace the current moment as parents. Regardless of what happens in the future, no one can take away the joy I’ve had seeing Noa grow and thrive the last  two years, which wouldn’t have been possible without the trial.”

Additional Resources:

https://www.umassmed.edu/news/news-archives/2023/07/family-connects-with-researchers-behind-canavan-gene-therapy/

https://www.canavan.org/

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.

For volunteer opportunities with CISCRP, visit our Volunteer page.

Written by Lindsey Elliott, Marketing & Communications Manager, CISCRP | lelliott@ciscrp.org

Medical Hero Spotlight: Michael Herman, Multiple Myeloma Clinical Trial Participant & Patient Advocate

Abruptly Diagnosed: Facing Multiple Myeloma

In the Fall of 2012, Mike Herman and his wife Angela were taking their daily walk with their dogs through the neighborhood. When Mike dropped his glasses and bent down to pick them up, he felt a sharp pain, much like walking into the corner of a counter. He assumed it may have been a pulled muscle, and tentatively moved on until it happened again a couple weeks later. This time, Mike was at work and had gone to pick some files up off the floor when the same pain started again. Although he didn’t know it at the time, the pain was caused by multiple micro-fractures.

At the doctor’s office, Mike was referred to a hematologist who believed he had a vitamin B12 deficiency and recommended he go home and take some supplements. “I was so lucky that day to have my wife with me who is a nurse and has a lot of experience navigating the healthcare system,” Mike recalls. “Angela insisted it was not a B12 deficiency and said we would not be leaving with that diagnosis, which was what finally pushed them to order a bone survey. That same afternoon, I was X-rayed from head to toe, which is how the microfractures were found.”

About a week later, Mike noticed an email in his medical portal with test results. He assumed this was good news about his health issues and never imagined he would receive a diagnosis without a phone call.

“I opened the message and must have read it ten times. I thought I must have been missing something, so I called my wife and read it to her,” Mike says. “When she hesitated, I realized that this was real and that I had cancer.”
Finding the Right Doctor

After receiving his diagnosis for multiple myeloma, Mike’s doctors started him on the standard treatment of chemotherapy.

“At that time, the only thought in my head was the fear of dying. I had been told that the life expectancy with this cancer was four years, and only three months prior my first granddaughter had been born. I was devastated that I wouldn’t be there to see her grow up,” Mike says. “Other options for treatment or clinical trials weren’t brought up by my doctors, so I didn’t know it was even possible for me.”

During the early days of treatment, Mike had the opportunity to change health insurance providers, which gave him much more flexibility in finding specialists for his cancer. Through research, the couple found Dr. Bart Barlogie, who had founded the UAMS Myeloma Center in Arkansas. Mike made the difficult decision to temporarily move to Arkansas and receive treatment at the center.

“I was down there for nine months and during that time I had two stem cell transplants and tried a couple different treatments,” Mike says. “My cancer wasn’t going into remission yet, but I was starting to feel a lot better, which is when I started becoming close with my doctor and appreciating his way of treating patients.”

Mike’s doctor believed in an individualized treatment approach, something that had been missing from his care when he was first diagnosed. “I highly value his feedback and we developed a great friendship. He welcomed me to ask questions and get second opinions from other doctors, which is so important when you are dealing with cancer. Any doctor who discourages you from getting another opinion does not have your best interest in mind,” Mike says.

Mike and Dr. Barlogie discussed his treatment, and Dr. Barlogie encouraged Mike to consider clinical trial participation. After Dr. Barlogie retired, Mike, having tried nearly every publicly available myeloma drug, sought new options, and opted for clinical research.

“I knew from my wife’s work in clinical research that these studies are essential to developing new medicines. If I could, I wanted give back to other people with myeloma who might need this medicine in the future. For me, clinical trials felt like the right thing to do.”
Clinical Trial Participation & Success

Mike has been in two clinical trials at the University of Pennsylvania, both with incredible results. The first study was in 2020 for a treatment called Teclistamab, sponsored by Johnson & Johnson Innovative Medicine. The trial tested two different ways of administering the treatment, and Mike received his subcutaneously, as a shot into his stomach.

“My doctors said results may take a bit longer this way, so I wasn’t expecting anything immediate. It was only the first mini dose,” Mike explains. However, within 48 hours, Mike was in excruciating pain to the point where he could barely speak. During this, he received a phone call from his doctor who let him know that his cancer levels had dropped 99%. The pain Mike had been in was caused by something called cytokine release syndrome, and while difficult to endure, meant that the drug was effective for him.

“I wish I had known about it before. Maybe anticipating the pain would have made it easier to get through,” Mike reflects.

After finishing up with Teclistamab, Mike’s cancer was undetectable for 18 months. However, because there is currently no cure for multiple myeloma, the cancer tends to have a recurrence. In 2022 when his cancer returned, Mike signed up for another clinical trial run by Genentech for a treatment called Cevostamab. Within two weeks of starting the trial, Mike’s cancer was in total remission and has remained undetectable since.

Patient Advocacy Work

Recently, the drug Teclistamab was approved by the FDA and is now available to multiple myeloma patients as Tecvayli. “It’s incredible knowing that my participation in a study contributed to a new treatment for cancer,” Mike notes. “My experience has driven me to become more involved with patient advocacy, so I can share my story with others and be the impetus for significant change in our broken healthcare system.”

Over the last decade, Mike has spoken at various events and conferences about his experience and the importance of clinical research participation.

“In your lifetime, you will likely either be diagnosed with cancer, or have a loved one who is diagnosed. I don’t want people to feel frozen by fear when it happens like I did at first. Having the resources and knowledge you need ahead of time can change that experience and outcome entirely,” Mike says. 

Together, Mike and Angela founded Speaking on Cancer Patient Advocacy (SoCPA), a non-profit with a mission to empower cancer patients and improve their treatment outcomes. The website includes helpful resources for individuals who have just been diagnosed, including guides to reading lab results, and education about different types of cancer.

Looking ahead, Mike is excited about some upcoming projects SoCPA has planned to help promote cancer awareness and education in larger companies and health care systems. His aim is to encourage companies to invest more in employee health and education, ultimately creating an environment where colleagues are comfortable navigating a cancer diagnosis in the workplace and know what their treatment options are.

“Being involved in patient advocacy and meeting such wonderful people has kept me motivated to work even harder.”

Additional Resources:

https://www.socpanow.com/index

https://themmrf.org/multiple-myeloma/

https.myeloma.org  

 

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.

For volunteer opportunities with CISCRP, visit our Volunteer page.

Written by Lindsey Elliott, Marketing & Communications Manager, CISCRP | lelliott@ciscrp.org

Medical Hero Spotlight: Brittany Foster, Pulmonary Hypertension Patient Advocate

Living with Pulmonary Hypertension

Brittany Foster may not appear to be struggling with a chronic condition upon first impression, however, she has been navigating a series of complex medical diagnoses for decades. At birth, doctors discovered Britt had a blockage in her intestines. She was rushed into emergency surgery, where it was quickly discovered she had also been born with a heart defect when she went into sudden cardiac arrest. At less than a year old, Britt was taking medication for heart failure and had a procedure to repair the hole in the bottom of her heart, called a ventricular septal defect. Soon after, she was diagnosed with pulmonary hypertension, a condition that forces her heart to work overtime to pump blood to her lungs.

Despite this diagnosis early on, Britt enjoyed a relatively normal childhood. She was very active, participating in nearly every sport with no issues. For years, the only evidence of her condition were the scars from her surgery as an infant.

Unfortunately, around the age of thirteen, Britt found herself struggling with shortness of breath while playing sports. Her cardiologist recommended she take a pulmonary function test, believing the symptom to be exercise-induced asthma. She was given inhalers and continued with daily life but soon found the inhalers weren’t fully effective.

“At that age, all I wanted to do was what my friends were doing. I loved playing sports, so I kept at it, despite my continued breathing difficulties,” Britt says.

Upon graduation, Britt began a career path in education as a teacher, a role that exemplified her passion for advocacy and helping others. “I wanted to advocate for the students who need resources, or who in some cases, did not have the ability to speak up for themselves,” Britt says. Four years into her career, Britt was managing an eighth-grade classroom when her condition began to impact her daily life again. “Many people don’t realize what a physically demanding job teaching is,” Britt reflects. “I was on my feet all day walking around the classroom and bending and crouching very often. One day I got incredibly lightheaded and ended up passing out in the classroom.”

Changing Directions: From Teaching to Rare Disease Advocacy
“Unfortunately, a big part of my story has been repeated mistreatment from medical professionals. As a young woman who physically appeared to be in good health, assumptions were made about me by doctors who weren’t interested in my prior history or symptoms,” Britt says.

After being rushed to the ER from her classroom, Britt’s doctors concluded she fainted due to dehydration despite her history of heart disease. They planned to send her home to rest with fluids, but Britt knew something else was wrong.

“I was lucky that right before being discharged, a nurse started asking more probing questions about what I had been doing right before fainting. We decided I should walk down the hallway with a heart monitor and oxygen sensor to evaluate,” Britt recalls. Within minutes, Britt’s oxygen levels had dropped rapidly, and doctors finally decided to admit her into the cardiac unit for further treatment.

Britt was released later from the hospital with an oxygen tank to assist her breathing and was told to adapt her life around her pulmonary hypertension. “I was only twenty-six years old,” Britt says. “The tanks were huge and difficult to get around with. I wasn’t given any resources on how to adapt my life, but I knew I wanted to get back into my classroom and start teaching again.”

Britt went back to teaching for several months and finished the school year but struggled with her oxygen tank throughout. Over the summer, she met with her doctors who strongly advised her to change career paths. Britt made the hardest decision of her life to retire from teaching. “I felt incredibly discouraged and depressed watching other teachers move on with a new school year, while I was sick in bed,” Britt recalls.

Finding Community & Support

During this time, Britt struggled with depression and anxiety. She turned to writing as an outlet, sharing her experience on social media, and eventually going on to write for a nonprofit organization that promotes mental health awareness. Soon after, she was hired as a columnist for BioNews to write about pulmonary hypertension. “From there I was able to start connecting with other patients, caregivers, and medical professionals, which helped build the sense of community and purpose that I had been missing,” Britt says.


In the years since, Britt most recently worked on the People & Culture team, a position that she loved. “I am grateful that BioNews truly values employees’ health and makes sure to accommodate our needs.”


Throughout her medical journey, Britt says her friends and family have been her biggest supporters. She encourages others with rare diseases to not be afraid to speak up about their experiences.

Continued Medical Treatement

Since her initial diagnosis, Britt has continued to undergo medical treatment, as doctors began to better understand her condition. At age twenty-nine, it was discovered the Britt was born with an anatomically misplaced aorta, in addition to the hole in her heart.

“My aorta branches off to the right, so all my arteries are opposite. I was in the hospital, sick and unable to keep food down. Doctors were trying to diagnose me with bulimia, until a GI specialist stepped in and found that because of my aorta, my arteries had formed a tight branch around my esophagus, making it painful to eat or drink,” Britt says.

Because of the long-term compression on her trachea and esophagus, Britt needed surgery to repair the damage. Unfortunately, this condition has caused permanent nerve damage, gastroparesis, and esophageal dysphasia. Since her surgery, Britt has become feeding-tube dependent to ensure she has adequate nutrition.

Advice for Patients

As someone who has navigated the healthcare system with a rare condition, Britt has learned valuable lessons along the way that she shares with others whenever she can.

Find a medical professional you can trust to advocate for your care.

“Rebuilding trust in medical professionals has been a challenge for me, but finding trusted doctors I can rely on has been a big help. I have an excellent relationship with my primary physician who leads my care and truly advocates for me,” Britt says.

Create a medical overview binder to share in emergencies and with new doctors.

Emergency rooms are fast paced and fast moving. When admitted, you may end up speaking with multiple doctors who haven’t spoken directly with each other about your condition. Britt recommends having one provider you trust assist you in building a document that includes all your medical diagnoses with explanations, any medications, or treatments you are currently taking, and the contact information and signature of that doctor. “I bring this folder any time I have to visit the ER and have the file stored on my phone to show staff as well,” Britt says. These documents can be helpful for treatment so that new doctors are aware of your baseline levels and other conditions.

Surround yourself with people who understand your condition and who support you.

“My medical condition has made my life and daily routine very inconsistent,” Britt says. “I never know when something will come up and I’ll need to cancel plans. Socializing takes a lot more planning now, which can be difficult.” If someone in your life is living with a chronic condition or a rare disease, Britt recommends becoming educated about their condition and learning to adjust expectations when it comes to socializing and other daily commitments.

Trust the timing of your life.

“Six years ago, I thought I had no future and I had lost a career I was passionate about because of my rare disease. Today, I have a supportive community of people who understand my experience and for that I am grateful.”

Additional Resources:

https://www.lung.org/lung-health-diseases/lung-disease-lookup/pulmonary-hypertension

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.

For volunteer opportunities with CISCRP, visit our Volunteer page.

Written by Lindsey Elliott, Marketing & Communications Manager, CISCRP | lelliott@ciscrp.org

Medical Hero Spotlight: Katie Hill, Appendix Cancer Clinical Trial Participant

Diagnosed with Appendix Cancer

Like most patients diagnosed with appendix cancer, Katie Hill had no idea her body was battling a deadly disease. Her diagnosis story began in 2021, when she made the decision to undergo a partial hysterectomy after struggling for years with pain caused by fibroids. At the hospital, her care team provided her with consent forms to read through and sign off on before the procedure. These forms gave her doctors permission to make other decisions as medically necessary if needed, a standard practice during surgeries.

“Because of COVID-19, I went in for the procedure by myself, and when I woke up in my recovery room, my surgeon let me know that there was an unexpected discovery they had made while I was under,” Katie recalls.
Her doctors had noticed an unusual spot on her appendix and decided to remove it just to be safe. Katie was informed that the team had also found some excess tissue near the appendix and abdomen, which they thought might be from endometriosis. With her appendix and tissue sent to the pathology department for testing, Katie was released from the hospital to recover at home.

Two days later, Katie noticed an email from her patient portal about her test results.

“Assuming it was nothing, I opened the email and started reading the pathology report from testing my appendix and tissue,” Katie says. “It was from that email that I learned I had Stage 4 metastatic mucinous adenocarcinoma of the appendix.”
“I remember sitting in my living room in complete shock. I didn’t know what else to do but to start Googling my cancer. It felt like a lifetime, but it was only about 5 minutes of reading before my surgeon called, interrupting my research. I could tell immediately by his voice that there hadn’t been a mistake, that this was real. Before he could say anything, I cut him off and said, ‘I know.’”

That afternoon, her surgeon had been desperately trying to prevent the hospital’s patient portal system from releasing the pathology report to Katie so that she would not learn of her diagnosis in such a clinical and shocking way. On their phone call, Katie learned a team at the hospital had been in discussions all day about her rare cancer and were researching treatment options for her.

Finding a Treatment Plan

Some patients might pull back from researching their cancer, but Katie jokes that research has always been a part of her DNA. “I needed to understand everything I could about my cancer.” 

She started by finding online resources and support, through groups like the Appendix Cancer Pseudomyxoma Peritonei Research Foundation (ACPMP), and patient support groups on Facebook. On patient forums, Katie quickly learned that it is critical for appendix cancer patients to select a specialist at a high-volume cancer center, or someone who has treated hundreds of patients with this disease.

“It used to be said that the chances of getting appendix cancer was 1 in a million. Now it’s about 2.5 in a million, so there are still not many doctors who have a lot of experience treating it,” Katie shares.

Katie spent the next week going to consultations in her home state of Pennsylvania and traveling to several appointments in New York. Within 2 weeks, she had selected her cancer specialist at Memorial Sloane Kettering.

“Part of my selection process for a specialist included finding a high-volume cancer center. I wanted a surgeon who has seen at least 100 or more cases of this a year, and I was also interested in finding a cancer center that had clinical trials available,” Katie explains. “If I have a rare cancer and have the opportunity to participate in studies that further care for other patients, I feel a duty to help.” 

Katie began treatment with chemotherapy to shrink her tumors. Her next step involved a procedure called cytoreductive surgery (CRS), which involves scraping the cancer off and, in some instances, removing organs. 

“My cancer is unique because it’s not a solid tumor, which is how most people visualize cancer. My cancer is like a jelly that spreads out across my insides, making it hard to detect on scans and then to remove.”

Joining a Clinical Trial

For Katie, clinical trial participation was a major consideration in her treatment plan, and she was fortunate to qualify for the ICARuS study. “It’s standard practice for most surgeons to use a heated chemotherapy agent as a wash to kill cancer cells. The ICARuS study is a randomized trial comparing two different methods of administering chemotherapy,” Katie explains. The purpose of the trial is to determine if outcomes for patients are different when using different types of chemotherapy.

As a rare disease patient, Katie has also had the opportunity to enroll in an observational study, called the Genetics of Appendix Cancer, or GAP study. “Right now, many appendix cancer patients use the same treatments as colon cancer patients because there is very little awareness or funding for research for this disease,” Katie explains.

“Many surgeons who run into this disease have never seen it outside of medical textbooks and oftentimes will misdiagnose or begin treatment, which could be detrimental to patients. They assume they’re doing good, but don’t realize that this is a different disease that needs to be treated differently.”

Appendix cancer was previously not considered curable, but we now know that some patients are making it for long periods of time with no evidence of disease (NED). Katie is currently 18 months NED! She hopes to be one of the patients who goes for a long time with NED but shares that she will be happy to get a couple of years without recurrence. “Our industry is moving so quickly that there will be new treatment options waiting for me down the line, which I am thankful for.”

Katie the day she arrived home after surgery, completing her treatment journey.

A Career Rooted in Life Science Collaboration

Katie has spent the last 20 years of her career working in different roles at the Drug Information Association (DIA), an organization dedicated to improving outcomes for patients through industry collaboration. Most recently, as Senior Vice President and Managing Director of Learning and Digital Solutions, Katie oversaw the development of DIA’s Patient Engagement eLearning Program, which helps to train professionals on best practices for integrating the patient perspective into the full medicines lifecycle. 

Unlike others fighting cancer, Katie wasn’t hesitant about sharing her diagnosis with her colleagues who were all incredibly supportive during her treatment. “My diagnosis was just another affirmation that the work we do at DIA is important. My colleagues and I come to work every day because of patients like me living with diseases, waiting for breakthrough treatments,” Katie shares.

For others navigating a difficult diagnosis for themselves or a loved one, Katie emphasizes that there is no ‘right’ way to move through your medical journey. “Everyone has different experiences and setbacks when dealing with a disease. I tried to maintain a positive attitude throughout my treatment, but that might not work for everyone,” Katie explains.

To newly diagnosed patients, Katie compares their upcoming medical journey to riding a rollercoaster.

“Everyone who has been on a rollercoaster knows that the scariest part is the slow climb to the top. In healthcare, most patients experience this immediately after their diagnosis, when there is so much uncertainty, fear, and often waiting. Once you’ve established a plan and found your care team, your treatment begins, and things really speed up. I know that for me, it was scary, but I felt secure knowing I had a top-notch medical team by my side and that I was making progress,” Katie says.

Additional Resources:

https://acpmp.org/ 

View an overview of the ICARuS study here.

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.

For volunteer opportunities with CISCRP, visit our Volunteer page.

Written by Lindsey Elliott, Marketing & Communications Manager, CISCRP | lelliott@ciscrp.org

Medical Hero Spotlight: Scott Germain, PTSD Patient Advocate

Retiring from Military Service

Today, Scott Germain works at the United States Army Natick Soldier Systems Center as a government employee, a change of pace from his previous career in the Army as a sergeant major. Scott served for 25 years in the U.S. Military, including time spent as a member of a Special Missions Unit and as a Green Beret. Throughout the 1990s and early 2000s, Scott was deployed to many areas of conflict, including Bosnia, Haiti, Rwanda, Afghanistan, and Iraq.

In 2012, Scott officially retired from the Army and was evaluated by a Special Missions Unit psychologist before leaving. “I think the Army’s standards of disability are different,” Scott says.

Scott during his military service

“I was evaluated as only having anxiety from leaving. The psychologist saw my team very frequently while I was deployed, so underlying issues weren’t as apparent to her in the environment we were all living in.”

Scott’s wife Jeannine has worked for many years in her own career to support veterans and military families. She is currently a project manager at Project New Hope, an organization dedicated to providing services and programs to support veterans and their families. After Scott left the Army, Jeannine saw many common signs of Post Traumatic Stress Disorder (PTSD) in her husband, despite a lack of diagnosis from his doctors. 

Scott was eventually tested, and his disability rating given by the military skyrocketed to 100%. “Scott was shocked when doctors concluded his PTSD was moderate to severe,” Jeannine recalls. “Since he retired from the Army, I sensed he was struggling, but he didn’t recognize the signs in himself. The testing was very helpful for us.”

Beyond PTSD, Scott suffered multiple physical injuries in his career for which he was prescribed pain medications. After leaving the military, Scott joined a three-week program at the Mayo Clinic to be weaned off these pain prescriptions alongside other people who struggled with chronic pain and addiction. “My experience with pain medication was different from many others in that group,” Scott says. For many people living with chronic pain from diseases or injuries, simple tasks like getting out of bed can be a challenge. Scott had been deployed and working while coping with the pain from his injuries, so his biggest challenge was now learning to not depend on the drugs in his daily life and be comfortable with a certain threshold of pain.

Finding Treatment

After the Mayo Clinic, Scott and Jeannine began looking for resources to help treat his PTSD. They began at Home Base in Boston, a nonprofit that provides mental health counseling, physical therapy, and other resources for veterans. Scott met with a team of doctors there who discovered that during his career, Scott had experienced a Traumatic Brain Injury (TBI) with lingering symptoms that continued to impact his health. “There are many ways a TBI can manifest, but for me, I struggle with memory loss, balance issues, severe migraines, mood swings, and sleeplessness. My body had adjusted to some of these problems over time, so I wasn’t even aware I was compensating,” Scott says.


For the remainder of his time at Home Base, Scott attended the program with a large group of veterans in the area. The treatment involved a lot of group therapy with veterans who had wide ranging experiences. Scott found himself struggling to connect with others in the program who served for several years, not several decades like he had.

“To help reassure many of us living with PTSD, our doctors would try to reinforce the message that the world is a safe place, and we didn’t need to be hypervigilant, but that just didn’t resonate with me,” Scott reflects. “Even back home in the US, there are daily mass shootings in public spaces we go to everyday. It felt hypocritical to say everything is okay to a group of people who know from lived experience that it is not.”

A couple of years after finishing the Home Base program, Jeannine stumbled across a recommendation for The Marcus Institute for Brain Health, a program through the University of Colorado that specializes in treatment for traumatic brain injuries. Scott applied and was accepted for the three-week inpatient program. The process involved a lot of physical therapy to help treat injuries as well as build up Scott’s balance and motor skills, which were impaired from his TBI. The group also did activities like yoga, art therapy, and memory exercises. The treatment was very successful for Scott, who enjoyed the program and the specialized care he received. “I appreciated that the doctors didn’t treat us all the same. I was in a very small class of 3 people, but our cases and experiences were all handled differently, and plans were made specific to each patient,” Scott says.

Advocacy Work & Advice

Throughout Scott’s treatment for his PTSD and TBI, there have been many roadblocks and barriers that have made receiving treatment harder. Scott has had negative experiences with doctors who have spoken down to him and minimized his experiences. There have also been many instances where getting appointments has been a struggle. “The VA and many other treatment centers are only open during office hours. If you need help from them or want to go to a group session, it has to be during the workday. For me that’s unrealistic since I still work a full-time job,” Scott says. Another current issue facing the military community is the overall shortage of available doctors and therapists. “Many military spouses and family members need healthcare services and there are no available appointments,” Jeannine says.


Scott’s years of experience navigating the healthcare system have made him a strong advocate among the veteran community for those living with PTSD. “When I was serving, I didn’t know anything about PTSD or TBIs,” Scott recalls. “Having that knowledge ahead of time is incredibly helpful and could save someone a lot of time and struggle.”


Scott and Jeannine’s greatest piece of advice for someone living with PTSD is to become educated and to encourage their family and friends to learn more about the disease as well. Jeannine recalls spending a lot of time early on when Scott first joined the Army educating herself about PTSD so she could provide support and so their family could adapt their lives as needed. Having the understanding and support from spouses of military members and other loved ones is critical.


Scott would also advise anyone struggling with PTSD or with a mental health condition to consult with their doctors to find small changes that can benefit them. For Scott, drinking in moderation and driving during off-hours of traffic are small alterations that made a big difference in keeping him safe.

“Ultimately, when it comes to medication and treatment options, everyone should be their own advocate,” Scott says. “Make sure you ask any questions you have to your doctors before starting a new treatment and that you feel comfortable with the care you are receiving.”

Additional Resources:

https://www.clearpathne.org/

https://www.projectnewhopema.org/

https://medschool.cuanschutz.edu/mibh

https://homebase.org/

 

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.

For volunteer opportunities with CISCRP, visit our Volunteer page.

Written by Lindsey Elliott, Marketing & Communications Manager, CISCRP | lelliott@ciscrp.org

Medical Hero Spotlight: Ella Balasa, Cystic Fibrosis Advocate & Patient Engagement Consultant

Growing Up with Cystic Fibrosis

Ella Balasa was diagnosed with cystic fibrosis (CF) at only 18 months old, after suffering from constant sinus infections, upper respiratory infections, and a bout of pneumonia. One of three siblings, Ella jokes she won the ‘genetic lottery’, since she is the only one with CF in her family. Despite this, Ella had a relatively normal childhood.

“I spent a lot of time in the hospital being treated for lung infections when I was growing up,” Ella recalls. “My daily treatments and medical care made me feel different from the other kids my age, which was difficult.” Cystic fibrosis affects not only the lungs, but also the pancreas’s production of enzymes, which are needed for digestion. While in school, Ella would visit the nurse’s office daily before lunch to take her enzyme pills before eating.

In college, Ella chose to study biology and ended up working in a laboratory after graduation.

“It was in this role that I first realized my own experiences as a patient could help bridge the gap between research and patient communities,” Ella says.

At the time, her team was studying antibiotic resistance, something Ella had personally dealt with in her own medical journey. “I’ve had to use antibiotics frequently to treat lung infections, which over time means that my body has developed a resistance to them. There have been points in my life where treatments wouldn’t work for me because of this. It was interesting having this connection between my own life and the research we were working on,” Ella recalls.

Amplifying the Patient Voice in Research

Inspired by this connection, Ella started volunteering with the Cystic Fibrosis Foundation and joined several advisory committees. She was able to use her degree and experience to review study protocols and provide input about what the priorities and needs of patients are when developing new research studies.


It was through this early work with the Cystic Fibrosis Foundation and other groups that Ella began developing a more professional patient voice. Her connections led her to start working with larger industry groups to help develop patient-friendly communications about upcoming clinical trials and new treatments. Since 2020, Ella has committed herself to working full-time as a patient engagement consultant.

“My goal is to lend the patient voice into developing better treatments and services,” Ella says.

Since then, Ella has grown her industry connections by speaking on panels, at conferences, and by attending other events. She began branching beyond CF consultation, ensuring the patient perspective is represented within research for other rare diseases. Now, Ella works with industry professionals to identify and meet the needs of many different patient communities.

Phage Therapy & Clinical Research

Around the time she began getting involved in advocacy, Ella was invited to be a part of a documentary about CF where she met another patient who was receiving an experimental treatment called Phage therapy. “This was an alternative to the antibiotics I had become resistant to, so I was very interested in trying it,” Ella recalls. The next day, she contacted the research team at Yale directly and was approved to begin the medication.


The treatment was incredibly successful for Ella, which inspired her to write an article for Huffington Post about her personal experience with CF, antibiotic resistance, and seeking alternative treatments. “I was really excited to bring more exposure to the topic of antibiotic resistance because it is common for people with chronic conditions and isn’t talked about often,” Ella says.


Since her treatment in 2019, there has been a lot of advancement in the field of PHAGE therapy, with clinical trials now available and more research being explored.

Ella is a proponent of clinical trials, explaining, “The best way to bring new treatments to communities is by participating in the necessary research. As a patient, it’s a commitment that needs to be decided carefully, but if you do choose to participate, you become a piece of the larger puzzle that leads to new medications, therapies, and even cures. Patients can and should be involved in the decision-making process and outcomes of new treatments.”

Unfortunately, Ella is not eligible for most CF clinical trials because her lung function is below 40%, one of the most common general exclusion criteria used in research. “I believe it’s important to develop adaptive trial endpoints and protocol designs to make clinical research more inclusive to a broader population of patients,” Ella says. “Everyone wants new treatments, but the eligibility criteria often exclude the patients who need new treatments the most.”

Connecting Patients & Industry
“Empathy must be the root of all healthcare interactions. For there to be meaningful communication between larger pharmaceutical companies and the patients they are serving, there needs to be a desire to understand the needs of patients and the barriers they may be facing in their daily lives. Real patient care happens along the way, when industry provides support and interest in patients outside of their experiences taking a new medication,” Ella says.

A large part of Ella’s role as a patient engagement consultant is making sure patients are brought into the conversation early on, beginning with trial protocol development, all the way to the post-study dissemination of information.

“I view healthcare as a loop. As patients, we are one group that contributes to improving healthcare, but it can’t be done without the physicians and researchers, and industry organizations. They are our partners in advancing treatments,” Ella shares.
Advice For Aspiring Advocates

One of the most rewarding parts of Ella’s work has been the relationships she has been able to foster with other advocates. “I’ve seen the work that others are doing, and it inspires me to get even more involved,” Ella says. “The drive and passion that stems from all these individuals is amazing.”


If you’re interested in getting more involved within a patient community or becoming an advocate, Ella advises to start by sharing your story. “When you’re not afraid to share your story and ask questions, doors will open for you. Don’t be afraid to reach out and make those connections. I’ve reached out online to many organizations to share my ideas and volunteer for opportunities, and I’m so glad that I have.”

Additional Resources:

www.cff.org

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.

For volunteer opportunities with CISCRP, visit our Volunteer page.

Written by Lindsey Elliott, Marketing & Communications Manager, CISCRP | lelliott@ciscrp.org

Medical Hero Spotlight: Dee Burlile, Scleroderma Clinical Trial Participant & Patient Advocate

Living with Scleroderma

For years, Dee Burlile struggled with various GI symptoms, joint issues, and sensitivity to cold and heat in her hands, unsure of what the cause could be. A busy mother of three young children, Dee’s health took a dramatic decline the day before Thanksgiving in 2011 when her youngest child found her having a seizure in their home and called 911. Her children’s quick thinking saved Dee from cardiac arrest, and she was stabilized in the hospital where she remained for treatment.

“I was incredibly sick, losing about 40 pounds in two months,” Dee recalls.

After leaving the hospital, Dee needed at-home nursing care to help manage her declining health. Living in Idaho with her family, Dee struggled to find a specialist who could diagnose her condition, eventually going out of state for her healthcare. In 2016, Dee made a trip to the Mayo Clinic in Minnesota where she was finally diagnosed with systemic sclerosis. Systemic sclerosis or “Scleroderma” is a chronic and often progressive autoimmune disease that affects connective tissue and can cause serious damage to internal organs including the lungs, heart, kidneys, esophagus, and gastrointestinal tract.

The symptoms of scleroderma can vary from person to person. For many, scleroderma causes noticeable tightening of the skin. Unfortunately, Dee’s scleroderma was causing significant damage internally to her organs. Since the beginning of her medical journey, Dee has undergone 21 surgeries, including bilateral rib removals, and four organs removed, including a colectomy to remove her colon. While some of her regular treatments have been in Idaho, Dee has had to travel for most of her surgeries and specialized scleroderma medical care, incurring financial costs.

“It’s been quite the journey not just for me, but for my entire family,” Dee says. “As a mother, there is a feeling of guilt that I can’t shield my kids from the reality of my illness. When someone in a family, especially a parent, is struggling with a disease, it can take a toll on the mental health of everyone, especially kids. They’ve seen me struggle with insurance company denials, delays in medication, and that ultimately affects all of us.”

Dee’s husband is a veteran living with his own disability. The couple work to fill in gaps for each other as best as they can, but Dee admits that the constant work needed to maintain their health, financials, and keep up with other responsibilities can be daunting at times.

Advocacy Work & Clinical Trial Participation

Since her diagnosis, Dee has connected with dozens of other patients living with scleroderma. In 2016, Dee attended her first patient education conference, where the experience sparked her interest in pursuing advocacy full-time.

“Sometimes I feel resentful for my disease because it keeps me from working. I graduated with full honors and worked as a victim witness advocate. Not being able to do that feels like a waste, and so if increasing awareness and being an advocate for scleroderma is what I can do, I will,” Dee says.

Over the years, Dee has participated in advocacy training, and gotten involved with groups like the National Scleroderma Foundation, Idaho Arthritis Walk, Arthritis Foundation, Trevor’s Trek Foundation, and Patients Rising. She has participated for several years in Advocacy Awareness Day on Capitol Hill to raise awareness with elected officials regarding health insurance, chronic illness, and scleroderma. Dee has also participated in clinical research which she believes is critical for finding medical advancements for scleroderma. In the past, she has been in several studies aimed at combatting fatigue, ILD (Interstitial Lung Disease), and other symptoms of scleroderma and has also submitted genetic data for testing. Currently, Dee is in a trial for a new medication that is going very well for her.

Despite her success with clinical research, Dee notes that over the years, only two of her doctors in the state of Idaho have shared information about clinical trials. Other research to find trials was done by Dee independently, which she explains can be difficult and overwhelming for a patient.

“I wish I had known how many clinical trials were available. I think there is a major gap in communication between physicians and patients when it comes to sharing clinical trials as a healthcare option, and it’s concerning,” Dee reflects.

Dee’s advice to someone interested in clinical research is to weigh the risks and benefits, fully understand what you are committing to, and participate only if it makes the most sense for you.

Waiting Room Entertainment

Through her advocacy work, Dee met Amy Gietzen and Demi Montgomery, other women living with scleroderma who are passionate advocates and want to make a difference in their patient community. Since then, they’ve gone on to work on various projects together, including the creation of The Waiting Room Entertainment. “We’d like to bring resources and knowledge to scleroderma patients and other patients living with chronic conditions who are trying to find out more about clinical trials, or just need a community to support them. We’ve created a social club where patients can meet and connect,” Dee explains.

Looking Ahead

Although living with scleroderma has been difficult, Dee feels incredibly lucky to have the support of her family and friends. Her community and her new connections made through advocacy work have helped lighten the burden of living with her disease and given her hope for a future with new medical advancements. “I try to be positive with my kids about my disease and my differences physically like my ostomy bag,” Dee says. “After my surgery, my daughter who wanted to understand what I was going through, made her own ostomy bag and wore it for a day. I was floored by her empathy and thoughtfulness.”

Additional Resources:

https://www.youtube.com/@thewaitingroomentertainment
https://scleroderma.org/
https://idahoarthritiswalk.com
https://arthritisfoundation.org
https://www.patientsrising.org/
https://trevorstrek.org
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.

For volunteer opportunities with CISCRP, visit our Volunteer page.

Written by Lindsey Elliott, Marketing & Communications Manager, CISCRP | lelliott@ciscrp.org

Medical Hero Spotlight: Tom Smith, Rare Disease Advocate & Patient Engagement Consultant

Living With Cystic Fibrosis

Tom Smith has never known a life without cystic fibrosis (CF), but it has not limited him or the work he does as an advocate for rare diseases. Although cystic fibrosis is a rare disease, it is one of the more common rare diseases in the UK, affecting about 1 in every 2,500 babies. Diagnosed at only six weeks old after experiencing severe breathing difficulties, Tom says that he was lucky doctors were able to identify his disease so early on so he could begin treatment.

“This was in the 1980s, when cystic fibrosis was a death sentence. The average life expectancy was only about 35 years. Things are very different today! I’m 35 years old now and expect to live a lot longer,” Tom says.

For Tom, childhood was relatively normal, and he recalls only a few instances of being hospitalized. “Until I was around 15 or 16, I felt the same as everyone else. As a teenager I became more self-conscious and wanted to fit in with my friends. I didn’t want there to be anything different about me,” Tom recalls.

Tom began putting off his daily treatments, which led to a decline in his health and more frequent visits to the hospital to stabilize his condition. Although with time, Tom’s health improved and he began prioritizing his treatments again, he still struggled with the emotional toll that can come with having CF. “Cystic fibrosis isn’t outwardly visible on most people. It was the secret that everyone knew about me, but that I never talked about. I felt like an intimate part of my identity was always being exposed,” Tom says.

Innovations in the CF Community

Over the years, the cystic fibrosis community has built up patient registries and multiple advocacy groups that have led to major advancements in treatment. “In the last 10 years, new disease modifying treatments have come on the market, including one that I have been taking because it aligns with my specific mutation of the disease,” Tom says. “It’s been incredible for me.”

For the first 2.5 years of his relationship with his wife, Tom’s morning treatments and physiotherapy appointments prevented the couple from spending a full day together. Thanks to his new medication, Tom hasn’t had to go to a physio appointment in two years and has much more energy.

“What is difficult in the CF community is that these medications don’t work for everyone. The drug I take works for most mutations but not all,” Tom explains. “There are large groups of people that are excluded and who are watching others with their disease have life-changing transformative experiences that they can’t join in on.”

In the past, Tom has applied to participate in a clinical trial, but was ineligible based on the criteria. However, he remains a major proponent of clinical research, an industry he has become very involved with, especially concerning patient engagement.

Working as a Patient Engagement Consultant

Beyond his own experience of living with a rare disease, Tom has spent much of his professional career exploring the role patients play in shaping clinical research and advancements in treatments. “Many are surprised to know that I don’t do most of my advocacy work with CF groups,” Tom says. “For my personal journey into this space, I’ve felt that only speaking and working on projects for CF is limiting in terms of my goals.”

In his early twenties, while trying to connect more with his disease, Tom found a group called Genetic Alliance UK who advocate for many rare diseases. They were looking for people to help them create materials about genomic medicine, which Tom was interested in. “That was my first experience writing plain language materials for patients before people really knew what it was.”

From there, Tom’s connections in the world of patient engagement grew exponentially. He attended a patient’s forum training session in Vienna where he was introduced to a member of The European Health Parliament. Tom applied and joined as a committee member, where he now works to shape policies that benefit patient communities.

Since then, Tom has picked up a variety of other projects, including working as a research ethics committee member for the Health Research Authority, serving as a faculty member at the European Forum of Good Clinical Practice, and working as a consultant for sponsors, medical communications companies, and regulators.

Within the clinical trials industry, informed consent and plain language are two areas where Tom enjoys taking on projects.

“Patients still receive documents that are 8,000 words long and full of complex medical information. They have to consent to move forward with treatment, even if the average person usually can’t fully understand what the materials say. That’s why I’m passionate about the intersection between patient engagement and industry and making sure that patients have a voice within the trials being conducted for them,” Tom says.
Encouraging Advocacy

Tom describes himself as someone who is always itching for a new challenge professionally, and he encourages other people living with chronic conditions or rare diseases to consider advocacy. Tom sees patient engagement as an “ocean beneath our feet”, with the potential to bring forth new treatments quicker, save pharmaceutical companies money, and empower patient advocates to be compensated for their work.

“We’re in the shadow of hundreds of years where doctors have controlled the outcomes for patients, when so much more could be accomplished if it were more of a partnership,” Tom explains. In his own experience, Tom has noticed that many patients settle when it comes to advocacy work because they are just excited to be involved. “If you begin advocating for yourself and your community, you can change your life! Make sure you’re being fairly compensated for your time and effort.”

All patients in a disease community are important and bring unique value. For meaningful advancements to be made, all voices need to be engaged. Tom advises patients who might be interested in getting involved in advocacy to find what interests them and start there.

“You don’t have to fit into any box as an advocate. If you’re not sure where you belong or where to start, just do what you enjoy.”

Additional Resources:
https://www.cff.org/
https://geneticalliance.org.uk/ 

https://www.hra.nhs.uk/

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.

For volunteer opportunities with CISCRP, visit our Volunteer page.

Written by Lindsey Elliott, Marketing & Communications Manager, CISCRP | lelliott@ciscrp.org

Improving Accessibility in Clinical Trials

In April 2022, FDA issued draft guidance for the clinical trials industry entitled, “Diversity Plans to Improve Enrollment of Participants From Underrepresented Racial and Ethnic Populations in Clinical Trials.” Over the years, FDA has issued numerous recommendations to improve the racial and ethnic diversity in clinical trials with the goal of ensuring that clinical trials are representative of and generalizable to the larger population. As a result, companies seeking marketing approval will be required to submit a diversity plan. To meet these requirements, companies will need to articulate their demographic goals for patients recruited, explain their rationale, and provide an action plan for how these goals will be accomplished.

Even though minorities make up nearly 40% of the population of the United States,
participants of color, women, LGBTQ+ individuals, and the elderly have been historically underrepresented in clinical research. While there is encouraging movement towards the democratization of clinical trials, relatively little attention has been paid to the need to make clinical trials more accessible. This is critically important for the nearly 60 million adults in the US living with one or more visual, auditory, cognitive, communicative, physical, or emotional limitations, many of whom are already part of the 40% referenced above.

Built environments, i.e., the material and cultural world that surrounds us, determines our ability to navigate the world, and, you guessed it, participate in clinical trials. If the design of a clinical trial does not consider how the built environment impacts potential participants, it effectively prematurely excludes potential participants. It also sends a clear message that this population is not considered an equally deserving benefactor of clinical research.

Some might suggest that improved accessibility of clinical trials is a luxury instead of a necessity. The reality is that any dataset that is not representative of a diverse population is not as scientifically accurate as it would be if it included the demographics excluded. A reasonable solution, then, starts with addressing very tangible barriers through purposefully designing inclusive trials and considering how every aspect of a trial impacts a participant.

Let’s look at a few concrete examples of how we inadvertently make clinical trials less accessible:

  •  Example A: A visually impaired adult is living in a mid-sized city with limited public transportation options. They’re unable to drive, and light rail and rideshare aren’t options. So, in order to participate in a study, they’ll need to ask a friend or loved one to take off work to drive them to and from their study visit.
  • Example B: A young adult with Duchenne Muscular Dystrophy, a condition characterized by progressive muscle degeneration and weakness, has expressed interest in participating in a clinical trial. To complete the informed consent, they’re asked to provide a wet ink signature.
  • Example C: A geriatric adult with multiple sclerosis is returning to their clinical trial site for a follow up visit. Though they’re able to drive, mobility is an issue and they’re often confined to a wheelchair. The parking lot at the trial site has relatively few handicapped spots and the doors to the building do not have a push-button access switch.

Though there have been recent developments with respect to bringing clinical trials to a participant’s home through home health visits and telemedicine, there’s still plenty of room for improvement. Here are some simple strategies we can employ to make clinical trials accessible to a wider population:

  • Strategy A: Talk with the patient population intended to benefit from a clinical trial. Get to understand their unmet needs, what impacts their quality of life, and their preferences. Be thoughtful when designing your clinical trial protocol. For example, don’t simply provide transportation to and from a clinical trial site for someone with vision or mobility challenges. Make sure they have support along their journey. This includes transportation from their home to the waiting room at the clinical trial site and back.
  • Strategy B: When asking patients to complete a task, be sure you understand what is and is not feasible. When requiring a wet ink signature, consider whether a patient is able to grip a pen. Do they have a printer, ink, and scanner at home to print, sign, and return? If not, are you asking someone to travel to a copy shop when the task could more easily be completed with the assistance of technology like electronic consent (eConsent)?
  • Strategy C: Have clinical research associates (CRAs) evaluate clinical trial site accessibility. Are there curb cut outs from the parking lot to the sidewalk? Is there a touch-free means of opening the door? Is the clinical trial site located in a three-story walk up?
  • Strategy D: Are all the visits required to be on-site? Is there flexibility in when and where participants can complete study activities in case they are in pain, do not have reliable support, or have an emergency that is unavoidable?
  • Strategy E: Have conversations with each participant prior to visits about any sensory or communication strategies that work best for them and their support system.

We can reduce barriers and burdens to participation through intentional consideration of the realities faced by patients, thereby making research accessible to a broader patient population. Not only does this contribute to more equitable science, it also benefits everyone, as it pushes the industry to make less assumptions about capabilities and provide more flexibility to potential participants as a whole.

Written by Richie Kahn, Co-Founder & Principal at Canary Advisors and Kristy Birchard, Director, Canary Advisors

Additional Resources:

https://www.fda.gov/regulatory-information/search-fda-guidance-documents/diversity-plans-improve-enrollment-participants-underrepresented-racial-and-ethnic-populations

https://www.nature.com/articles/d41586-023-00469-4

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.

Volunteer opportunities with CISCRP, visit our Volunteer page.