December 8, 2022
Written by Katie Boychuck
It seems to me, we hope throughout our lives. When we’re young, we hope good things happen. As we
age, we hope bad things don’t happen. In the end, we hope all we believed in comes to be.
As I entered my parenting journey I was full of hope and dreams for my three children, Mac, Jack and
Collin. When I received Collin’s MED13L diagnosis my world cracked open and while it filled with
darkness, those hopes and dreams slipped out.
First, I ran to the internet to devour every piece of scientific literature available. As most of you know, that didn’t take very long. Next I found this beautiful community of support. I joined the Facebook group and dove into all of the posts. I found the Mighty Network and read about our drug trials and mice models. I reached out to our community and was welcomed with knowing arms. For you all have walked this journey. Unlike my family and friends, who were at a loss for words, you all knew. I met several of you in Baltimore and together we shared our successes and struggles. As you spoke, your words wrapped around me like a hug I didn’t know I desperately needed. Finally I found my people and you listened to me with a knowing nod.
With my legal background in nonprofit governance and experience fundraising for another rare genetic
disorder, I was asked to be a Board Member. It is through this opportunity I found myself boarding a
plane from Chicago to Nashville to meet with scientists at CombinedBrain. The MED13L Foundation was
invited to join CombinedBrain a few months ago. This organization works to accelerate the path to
clinical treatments for rare genetic disorders by pooling resources. Together with CombinedBrain, I
attend an event hosted by SYNGAP, another rare genetic disorder group that has made amazing
advances in research and development of treatments. As I spoke with our amazing CombinedBrain
researchers, Anna Pfalzer and Rachel Heilmann, I found that hope and those dreams creep back into my
world. They spoke of the amazing advancements in healthcare, many of which fellow Board Member
Nick Seaver wrote in his article, “The Golden Age of Biology.” I simultaneously laughed and lamented
with our exclusive club of Rare parents and heard the work their Foundations were doing. We said
together, “A win for one rare, is a win for all.” I saw firsthand this industry of personalized medical
research that partners scientists directly with Foundations to better understand and treat rare
And just like that my hope manifested into belief, we will find a treatment and cure.
Simon Searchlight’s mantra is, “Driven by Science. United by Hope. As a parent I say, Inspired by Hope
and Driven by Love. Hope sees possibilities rather than limitations. Hope strains to see light through
darkness. Hope deepens Joy to walk with sorrow. And in the darkness of Winter, Hope “Springs”
As we walk on our Rare parenting journey together please Choose Hope with me.