Honoring Rare Disease Day: Claire’s Story and the Impact of Better2gether
At 13 years old, Claire is an outgoing young girl who radiates joy despite the challenges she faces daily. She may be non-verbal, but her personality speaks volumes. Claire loves music, especially the songs of Laurie Berkner - whom she had the pleasure of meeting twice. She adores animals, especially pandas and cats. And her love for stories is shared with her mom, Ashley, as they enjoy reading classic Babysitters Club books together.
However, Claire’s journey has been a challenging one. Born with 1P36 deletion syndrome, a rare genetic condition, her medical complexities were completely unexpected. "We didn't find out anything was wrong until after she was born," Ashley recalls. "She started her life in the NICU, and we were told she needed genetic testing. As parents, we were frightened and confused." Doctors initially provided a grim prognosis, predicting Claire wouldn't live past five years old and would have limited abilities.
With little known about 1P36 deletion syndrome at the time, Ashley and her family had to create their own path, assembling a dedicated medical team and seeking expertise across the country. "Over 10 years ago, we had to go all the way to Boston Children’s Hospital because there were so few doctors in the country who saw other 1P kids," Ashley shares. "That was a huge moment for us. Since then, we have been learning as much as we can and finding our community. Knowledge is power."
Today, Claire receives outstanding care from VCU Children’s Hospital, where her team works collaboratively to support her needs. "Thankfully, we connected with the Complex Care Clinic at VCU, and it's been very much a cooperative effort, which makes things easier for us."
Caring for Claire is a full-time commitment shared by her mom, Ashley, Claire’s father, and an incredible nurse who comes to the home during the week. "Claire is small for a 13-year-old, but she can’t walk. I have to carry her. She often needs oxygen. There are a lot of moving parts all the time," Ashley explains.
Claire requires care from multiple specialists, including cardiology and neurology, and has undergone multiple surgeries and extended hospitalizations. Despite these challenges, Ashley has found strength in the community of families navigating similar experiences.
Better2gether has been a source of support for Ashley and her family. "Better2gether is amazing for helping families find other families who have similar experiences. The people we've met have been so candid and wonderful." The organization provides essential resources, connects families with critical services, and fosters a sense of belonging. "I’m especially excited about the Support Group. Just being able to talk to others who understand has been phenomenal."
The impact of Better2gether extends far beyond resources—it brings emotional and financial relief in times of need. "This past Christmas was very hard financially for my family,” Ashley shares. “Better2gether blessed us unbelievably. Jennifer, B2g Family Navigator, showed up and brought so many things that we needed and wanted. It was beyond any expectations. It was such a moment of love. Better2gether sent us the message that people really do care."
As we observe Rare Disease Day, Ashley emphasizes the importance of awareness and support. "I appreciate that Rare Disease Day is becoming more prevalent and that people care and are curious. It’s great to have organizations that aren’t just focused on one particular diagnosis, and can focus on all the kids and families."
Claire is described by her mom as, “a beautiful light in the world.” With the support of her extended family, medical team, and the Better2gether community, Claire continues to shine her light. "Better2gether has positively impacted our family 1000%!” shares Ashley.
This Rare Disease Day on February 28th, we invite you to stand with families like Claire’s. Your generosity allows Better2gether to continue providing support, resources, and connection to those who need it most.