Written by Melissa Daley & Lindsey Elliott, CISCRP | lelliott@ciscrp.org
Jenn’s plate is full. With four biological children, two foster children, a full-time job as Executive Director, head of patient advocacy at Fulcrum Therapeutics, running her own consultancy for patient advocacy, and serving as founder of One Rare, a nonprofit that sponsors a virtual summit for young adults with rare conditions, she is always going somewhere and doing something for someone. This would be a lot to imagine for others with quieter lives, but Jenn’s story goes even deeper. Three of her biological children have rare diseases with serious physical impacts. Her sons Austin and Max have Duchenne Muscular Dystrophy, and James has Primary Immune Deficiency and Congenital Cholesteatoma. Participating in clinical research has been a major part of their lives.
“I decided that Austin and Max were going to be in any clinical trial that they were eligible for the first time I sat down at a Parent Project Muscular Dystrophy (PPMD) conference, in the audience, and watched scientists talk about MDX mice and how they were curing Duchenne in these mice,” Jenn recounts. “That was when the boys were five and two. It was never a question in my mind because I was told my sons would not live into adulthood. There were no care options.”
Duchenne Muscular Dystrophy is a genetic disorder characterized by progressive muscle degeneration and weakness due to the alterations of dystrophin, a protein that keeps muscle cells intact. (1)
Austin, now 23, was the first member of the family to participate in a clinical trial, at the age of twelve. He was invited to be in a Phase I trial, which tests an experimental treatment on a small group of people to assess its safety and side effects and find the correct drug dosage. (2) “It was a hard decision to make, to be a safety subject in a study,” says Jenn. “It was hard as a mom, and it was hard as a twelve–year–old to understand that you’re participating to determine if this therapeutic is going to be safe when it’s administered once. It was not expected to benefit him, even if he was in the treatment arm of the study, because it was one dose. And there were a lot of blood draws.”
The family lived in Vermont, and the study site was in Columbus, Ohio. “It was really cumbersome, flying with a non-ambulatory patient,” says Jenn. “I was very pregnant with my daughter, at the time. It was not a good experience. But we made the decision to be in that study because there really were no other options. I have always believed in research. I’ve always had that kind of feeling of if not us, then who? We have to move science forward.”
Right after Austin’s participation, Max, now 20, was invited to participate in another clinical study for Duchenne Muscular Dystrophy. “He was nine and a half years old,” says Jenn. “Max’s study was only for ambulatory patients. That was really hard because I knew from the very beginning that Austin would not qualify for the study, but Max would. Austin was fine with that, saying that if it works for Max, then I’ll get it. This was a really invasive study.” For over a year, Jenn and Max travelled to the study site in Ohio. During that time, Max had four muscle biopsies.
“The decision to take part in that study was because I was willing to try anything. We didn’t have all the different choices that we have now, a decade later, for clinical trials for Duchenne,” says Jenn. “Unfortunately, nothing came fast enough.”
Austin and Max continue to participate in clinical research, and Jenn’s role in the decision-making process has changed as her sons have entered adulthood. “Things have shifted a bit. I now give advice instead of making decisions. I like to be the decision maker, but I can’t tell them what to do. I give them all the information they need to make their own decisions and I let them know my opinion,” says Jenn. Recently, Austin and Max decided to screen for the same clinical study when Jenn shared information about the opportunity with them. Max decided to participate, based on Jenn’s input. Austin resourced additional information from biotech researchers he knows through his professional network.
Jenn’s 14-year-old son, James, has two rare disease conditions: one, Primary Immune Deficiency, a rare genetic disorder that impairs the immune system but can be controlled on blood plasma products, (3) and two, Congenital Cholesteatoma (4) a tumor disease confined to the ear canal. While the tumors can be controlled and removed surgically, they can grow in many directions. Jenn shared, “the doctors watch for the tumors and remove them.”
“James had probably the most potentially deadly complications of any of my kids, because he had a tumor as a result of congenital cholesteatoma that grew into his brain at one point and caused a massive infection,” explains Jenn. Having primary immune deficiency also contributed to James having serious infections after surgical intervention.
“James had four tumor removals in the space of two years. They are complicated surgeries that can take up to six hours because they are working around little structures in the ear. It was such a painful situation,” says Jenn. One way to treat the illness is a radical mastoidectomy, which removes the structures in the inner ear to reduce the chance of tumor growth. It leaves the patient without hearing in the ear. Jenn and James discussed the pros and cons of the treatment together.
“I left the decision up to him to make and decide what he preferred, because he is the one going through all these surgeries and massive infections,” says Jenn. James opted to have the procedure. He has not experienced tumor growth since having the surgery.
James is currently not eligible to participate in clinical trials for immune deficiency, as most are focused on either severe forms of the disease, or require participants to be 18 years and older. (The disease primarily occurs in adults). At the time this interview was conducted, there were no congenital cholesteatoma clinical trials in the United States.
Jenn finds support in online communities with like-minded parents, caregivers, and other rare disease patients. Meeting in person has been curtailed for the past two years due to the COVID-19 pandemic. Jenn says “You just find your people. I don’t have many friends outside of the rare disease community.”
Jenn has also forged a strong network of informed connections that she can call upon when discussing options about clinical research participation for and with her sons.
“Professionally, I work in rare disease,” says Jenn. “I have the unique capability of being able to call a research scientist or somebody else in the field and ask them to look at data and make decisions with me or explain something to me. I’m a huge believer in resourcing, so I don’t feel like I have to know everything. The people in my world believe in research. I don’t surround myself with anybody who would think that it is not a good idea. When the condition that your child is living with is deadly, you’re very willing to try something because you know what the alternative is.”
Jenn advises patients, parents and care partners embarking on their clinical research journey to ask as many questions as necessary to make the right decision about participating in a clinical trial.
“When Max and Austin were in their first clinical trials, I didn’t understand any of it. There are things I wish I had known or that I wish I had asked about,” says Jenn. Important questions include finding out what happens after the clinical trial ends. “What is the plan after this phase?” says Jenn. “Once enrolled in the study and exposed to this therapy, do I get to continue on it, if it works and there is good data? If the drug or treatment works, you want to know that there is a plan for your child.”
Jenn recommends asking the study team about options that can reduce the burden of clinical trial participation for patients and caregivers, such as conducting tests and taking blood draws locally, or even at home. The COVID-19 pandemic has scaled the prevalence of decentralized clinical trials (DCTs), telehealth and home health visits. These options have also reduced the amount of travel for patients and caregivers. If travel is involved, Jenn recommends asking questions about travel costs, paying for childcare and/or travel expenses for siblings, lodging and meal related expenses.
“As a caregiver, my biggest piece of advice is ‘Don’t make yourself irreplaceable’, because it’s not a sprint, it’s a marathon,” says Jenn. “Family members can be strong care partners. Make sure that you like and trust your team at the research facility. Reach out. Ask questions. You don’t have to sign an informed consent form that you don’t understand. You don’t have to agree to anything you don’t understand. Take the opportunity to make clinical research staff explain everything and what you’re agreeing to do,” says Jenn.
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Sources:
(1) https://www.mda.org/disease/duchenne-muscular-dystrophy
(2) https://www.nia.nih.gov/health/what-are-clinical-trials-and-studies#four
