Rebecca Bialas, MD
Mom to two children with PLGD-1
Co-founder and Chair, Plasminogen Deficiency Foundation
This month, NORD is proud to spotlight a few incredible “Moms on a Mission” across our community, because if there’s one thing we know, it’s that there’s a lot we can learn from other moms.
Inspired by Abbey S. Meyers, NORD’s founder, who — along with other fearless advocates — established NORD 43 years ago to help her son and others living with rare diseases, this series celebrates the mothers, parents, caregivers, patients, and advocates who continue to drive change, face life with courage, and refuse to accept that “nothing can be done.”
So, grab a cup of coffee and enjoy this month’s “Moms on a Mission” Q&A spotlights featuring hard-earned insights and inspiration from some truly extraordinary moms.
Meet Rebecca
Rebecca Bialas, MD, is a physician and mom to two children living with plasminogen deficiency (PLGD-1), a multi-system disorder with fewer than 100 known cases worldwide. Like so many moms, Rebecca knew something was not right with her newborn son and, after a difficult search for answers, took action. Following her children’s diagnoses, she and her husband, Ryan, co-founded the Plasminogen Deficiency Foundation in 2020 to help other families navigate diagnosis and care.
Through persistence and advocacy, progress moved quickly, leading to an FDA-approved treatment that offers hope to families around the world. Today, the Foundation is working closely with Kedrion Biopharma to educate physicians about PLGD-1, a rare disease hiding in plain sight, so they do not mistake it for more common conditions such as conjunctivitis and endometriosis.
Read on for great insights from Rebecca:
1. What first pushed you to take action to start a Patient Advocacy Group?
When we first suspected plasminogen deficiency, the only information we could find was in dated scientific journals on PubMed. Even though we are two physician parents who are accustomed to using PubMed, we found it difficult to read these studies and understand what we could expect for our own children. It was all very clinical and, to be honest, pretty dark as well.
We decided to start the Plasminogen Deficiency Foundation, first and foremost, to be a source of information about this rare diagnosis that could be more easily searched, read, and understood by other parents as they were learning about this life-changing diagnosis. As new information about advancements in care was released, we knew we could share it with other families in a timely, family-friendly format. We were also hopeful that we could begin to build community by starting the Foundation.
2. What has been the hardest part of the journey?
The hardest part of the journey has always been the uncertainty that comes with a lifelong rare disease diagnosis. What new challenges will we face as our children grow up? What if their disorder worsens over time? How will they learn to manage this disorder on their own? What if we lose access to the only treatment available for this disorder? Will they be able to do the things they want to do with this diagnosis?
There are so many questions that it can quickly become overwhelming. We go through periods of relative peace, when everything seems to be going well, and periods of change, stress, doubt, and uncertainty. I know that this is not unique to rare disease families, but the stressors can be different for families like us. Ultimately, we must take it one day at a time and trust in ourselves to find a solution when problems arise, as they inevitably will.
3. What would you say to a mom on a similar path as your own with a child that may be facing shortened life expectancy or medical complications that alter the course of their life?
I would say two things:
First, whether our life is long or short, we get to choose each day how we spend it. From the time my kids were very young and we realized our life would be more complicated than we expected, we decided to find joy, magic, and meaning every day, even if we had fewer days than we hoped for. Sometimes that means big things like a family trip to Disney World, or medium-sized things like celebrating every random, minor holiday ever created, and sometimes that means small things like putting a joke in their lunchbox for school, then telling them about it over dinner. But every day, we try to make a happy memory, laugh, or have a meaningful moment together.
Second, for the really hard times, or in times of crisis: Take it one moment, maybe even one minute, at a time. I say to myself: right now, at this moment, is there anything I can or need to do in this situation? Maybe the answer is yes — then do that thing. Maybe the answer is no — then take a deep breath and try to just be. Moment by moment, breath by breath.
4. What keeps you going on the hardest days?
Being a mom is what keeps me going. There is literally nothing I would not do for my children. These are my children, I chose to bring them into this world, and it is up to me to care for them as best I can. My husband feels the same way, so we can support each other. That inspires me to keep going even on a hard day.
Also, I drink a lot of good coffee, prioritize sleep, and try to spend time with my husband or a friend to bring me back to myself when I need it. Walking outside in nature is one of the best ways I’ve found to recharge.
5. What advice would you give to another parent beginning on this path of rare disease advocacy?
Find your community as soon as you can. Find other parents who understand how you’re feeling, who can offer their perspective and experience, maybe even some tips and tricks, and who can be there for you when you’re down. I’ve met some of my favorite people on the planet through our Foundation, people who I never would have met otherwise. And find that community for your children, too.
My children have made great friends with other children with plasminogen deficiency. They get together and play as any kids would, but also practice finding veins for their infusions, talk about what it’s like to depend on an infused medication, and just generally feel like they are not alone. It’s so important for all of us. And, if that community doesn’t exist, create it. It is not as hard as you think. I am always happy to talk to other parents who might want to get started with a community of their own, whether that’s a formal Foundation or nonprofit, or a social media-based group. It is worth every minute of effort, I promise.
Follow along all throughout May as we share more inspiring Q&As with rare Moms on a Mission.
