A Big Step Forward for UBE2A Families!

It is official, you guys! I am beyond thrilled to share some huge news with my UBE2A families, friends, and supporters. Today, I’m posting our recruitment flyer for a major project I’ve been working on, and I just had to share it with all of you!

For those of you who may not know, Abram was diagnosed with UBE2A (type Rafaella Nascimento) at age 3. At the time, we were told by geneticists at the University of Iowa Health Care Stead Family Children's Hospital that they had never seen a case like his. We were, quite literally, alone in the world. Fast forward to 2017, and after crowdfunding just to attend the RAREis conference in California, we met one other family. That was a pivotal moment for us.

In the years that followed, I started the UBE2A Deficiency Syndrome - Parent Connection group, scouring the globe to find others affected by this rare disorder. Each year, we added several families, and now we average one new family every single month! Today, our group has over 100 families, all with boys just like Abe (because yes, UBE2A affects only males).

As many of you know, Abe is part of the Complex Care team at the Mayo Clinic and has been participating in a 5-year research study on Sensory Processing Disorder. This study has provided me with the opportunity to meet genetic researchers, including a wonderful woman named Jaclyn, who was the key to connecting me with some amazing people. After hearing about our parent group and how doctors still don’t know what UBE2A is or how to help families, Jaclyn introduced me to a group of PhD students and Post-Docs interested in assisting with research. Just a few days later, we had a team ready to dive in!

After multiple Zoom meetings, we’ve developed a plan for community research and data collection that aims to identify key medical commonalities for families. This data will help families provide solid information to their doctors—things that aren't in the current medical literature but that we, as concerned parents, have learned through our shared experiences. This is a huge step forward in helping our children navigate the healthcare system, and I am beyond grateful for Caroline Roberts, who has taken the reins and is pushing this project forward.

Our ultimate goal is to create a foundation/non-profit dedicated to UBE2A with a website for this disorder, providing a centralized hub of resources and support for families. It’s truly overwhelming to think about how far we’ve come. Despite all that Abe has been through, we have found our community, one that spans the globe. And now, OUR BOYS are paving the way for future families.
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This has brought me so much joy, and I cannot wait to continue this journey and see where it leads!