Despite the name, rare diseases are more common than we think, affecting about 300 million people globally. This is equivalent to the population of the third-largest country in the world. Most of these diseases are genetic, and 70% start during childhood. Patients with rare diseases need caregivers who can take care of them and help manage the disease, treatments, doctor visits, and more. Caregivers, especially for those with rare diseases, take on a significant responsibility as soon as their loved ones receive the diagnosis. But how can we support them?
On Rare Disease Day 2024, we had the pleasure of sitting down with Becky Vivian, a mother of two children who live with a rare disease called Metachromatic Leukodystrophy (MLD). She shared her experience as an advocate for her children’s lives, their participation in clinical trials for rare diseases, and the challenges of following a clinical trial while managing their daily lives.
Could you tell us about you and your family’s background?
Before 2012, my family – my husband, our four children, and I – were like any other ‘everyday’ family. We were active in our community; our children attended school and were involved in all types of hobbies and sports. However, we soon noticed that our youngest son, Eli, differed from our other (older boys) children. I took him to several doctors to find answers, but each one told us he was healthy but maybe had a mild developmental delay and there was nothing wrong with him. I knew I had to advocate for him.
After a year of searching, we found a doctor who believed in us and diagnosed Eli with Metachromatic leukodystrophy (MLD), a terminal neurodegenerative disease that had no cure. We learned that the disease was genetic, so our other three children were tested. We found out that our youngest daughter, Ella, also had MLD. Since then, I have been on a mission to save my children’s lives.
What is Metachromatic leukodystrophy (MLD)?
MLD is a rare hereditary disease that affects the nervous system. There are three types of MLD based on the age at which symptoms appear: late-infantile, juvenile, and adult. Eli was diagnosed with juvenile MLD.
My husband and I didn’t know we were carriers. At first, we noticed some minor symptoms in Eli, which included a slight tremor, guarded arms to his body, and slower processing than other children. Ella, on the other hand, showed no symptoms at all. From the outside, it didn’t seem like much was wrong. But their MRIs told a different story.
How did you find out about clinical trials?
We were initially informed that no treatment was available for MLD, and some doctors even discouraged us from participating in clinical trials. However, I created a Facebook page to share our story, and that’s when I learned about the clinical trials available.
Through the page, I connected with a mother whose son had MLD and had the same symptoms as Eli. She introduced me to someone involved in the clinical trial her son was a part of. A few months later, we went to Italy, where the clinical team was based. They were amazed by Eli and Ella. After many months of waiting and numerous tests, we heard what we had been hoping and praying for: they told us that they would treat them.
What was life like in the clinical trial?
We spent six months in Milan, Italy, for Eli’s treatment, and we had to return for another six months to get Ella treated. As a mom, it was tough for me to leave my other two children back home, especially when they were trying out for sports teams and hitting milestones of their own. But I kept focusing on the gratitude that Eli and Ella were able to receive treatment.
Eli and I stayed in the hospital for 54 days, while my mother-in-law and Ella stayed in a nearby apartment. They walked to the hospital a couple of times a day, which was physically demanding. The language barrier made things more challenging since translation apps were less advanced back then.
The first six months were the hardest because we felt isolated, having to figure out basic things like grocery shopping and transportation on our own. But things got a bit easier when we returned for the second six-month period for Ella’s treatment. We had built some connections during our first stay, which made us feel more supported and helped us manage the day-to-day challenges.
Were expenses covered?
Very few of our expenses were covered during the trial with Eli, as he was only accepted out of compassion. However, we were fortunate enough to have a fundraiser in our community, which raised a lot of money for us.
We spent an exuberant amount of money during Eli’s first year in Italy. We had to pay for most things out-of-pocket, including flights, meals (except for a few vouchers for the cafeteria), and food we had to bring from the US because our kids were picky eaters. Unfortunately, we were robbed in one of the apartments we stayed in, which made us more cautious about the areas we wanted to stay in, driving up costs even further. It was challenging.
What is life like now?
Life’s good, even though it’s not always easy. My kids still need a lot of help, but this clinical trial changed everything for us. The treatment worked and is already FDA-approved, which is incredible. It’s truly saved my kids’ lives, and we’re so thankful for that.
We try to make the most of every day. Eli’s doing great—he’s the manager of his high school basketball team and even got to do the tip-off for their senior night game. Ella’s into all sorts of stuff—she loves riding horses and playing top golf with friends, and she’s even done a polar plunge! Oh, and we recently met Adam Sandler, which was a dream come true for Eli and Ella. We feel truly blessed and grateful for all the opportunities we have.
What advice do you have for the industry about what can be done to help families like yours that may be participating in a clinical trial?
Clinical trials affect the whole family, not just the patient. Clinical trials affect the whole family, not just the patient. It’s important for those involved in clinical trials to be mindful of this and to find ways to support the families effectively, as they often don’t receive enough support. It’s important to think about the basics. Make sure families have what they need when they get there. That could be providing kids’ favorite foods, helping set up their temporary housing, or giving them a guide with local info, like where to shop and how to get around. Second, families need emotional support. It’s tough being in a new place with a lot of stress. Having someone to talk to, like a counselor or therapist, can make a big difference. Regular check-ins with families to see how they’re holding up can help, too.
We appreciate Becky and her family for sharing their journey with us and shedding light on the true challenges of participating in a clinical trial—not just for the patient but for the entire family. This story highlights the critical need to provide services that remove the stressors and barriers – financial, logistics, emotional and more – associated with clinical trial participation.
At Greenphire + Clincierge, our focus is on supporting patients and caregivers by addressing their unique needs and working to enhance and simplify their clinical trial experience.
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