We’re Anabel and Joey, parents of Ophelia Perez, a strong-willed, always happy, and playful little girl. Naturally, when asked to become Regional Coordinators in Florida, we jumped at the opportunity.
Ophelia “Ophe” was diagnosed with CdLS at age 4; before her CdLS diagnosis, we spent days and hours visiting many different pediatric specialists, from neurologists to endocrinologists. They poked and tested every part of her until one Doctor finally suggested speaking with a Geneticist, and so we did. One visit and genetic test later, the Doctor called.
He said, “We finally have the answer you’ve been looking for … your daughter, Ophelia, has a rare genetic condition called Cornelia de Lange Syndrome.”
After that call, all I can remember was relief and a sense of loss. Relief that I can spare my daughter from more visits that have created a fear of hospitals and strangers in scrubs.
We were relieved that we could finally focus on finding her the best support to enjoy every part of her life, and I felt a sense of loss for what I imagined her life to be and what I thought at the time, what she would miss out on.
After months of research and trying to understand this new world, we stumbled upon the CdLS Foundation’s website. At first, we joined as parents from afar. With the advice we saw and received from the Foundation, we made our journey to CHOP to meet the experts, and most recently, we joined several other families at the East Coast Retreat. As shortsighted as it seemed before the East Coast Retreat, we felt we were on this CdLS island alone, just the three of us. The retreat and meeting with the CdLS Foundation in person opened our eyes to a strong community that cares and advocates for our children’s needs.
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