Crystal grew up believing that she was somehow “different” from other people. It wasn’t until the birth of her second child in 2017 that the Florida gulf coast mother of three found answers to personal mysteries she had pondered throughout her life.
“I had one foot a full shoe size larger than the other, my hands were different sizes and I felt as though my face was asymmetrical,” she recalls. “Also I had difficulty running, because one side of me was larger than the other.” Though Crystal pointed out these observations to family members during childhood, no one seemed concerned and the variations were shrugged off as minor differences within the range of normal.
Fast forward to the birth of Emma, Crystal’s second child in 2017. Soon after her birth Emma, a notably large newborn, was diagnosed with jaundice and hypoglycemia (low blood sugar), as well as muscular weakness that caused developmental delays. Crystal was committed to finding answers, which led at last to a diagnosis of Beckwith-Wiedemann syndrome (BWS) a genetic disorder associated with a range of anomalies, including large size at birth, a large tongue (macroglossia), low blood sugar, overgrowth of one side of the body and the potential for tumor growth.
As is typical when a child is diagnosed with a genetic disorder, both Crystal and her husband, Jordan, were offered genetic testing. From this Crystal learned that she too had BWS and with that knowledge came a cascade of memories, as she reconsidered the physical differences she had observed during her childhood in light of the new genetic findings.
Later, the couples’ third child, Ruby, was diagnosed with BWS. The good news: the family is now in the care of expert specialists and they will be watched over time for the most challenging aspects of the disorder, including tumor development. The fact that the three with positive diagnoses are being followed closely makes it likely that any tumors will be found at the earliest, most treatable stages.
Baby Emma was found to have macroglossia, which can cause difficulties with speech, feeding and other essential functions. She underwent surgery in August 2020 with Dr. Chad Perlyn, a plastic surgeon at Nicklaus Children’s Hospital who is one of only a handful of experts in the country performing tongue reduction procedures for BWS patients.
Crystal noted that since the surgery, many clinicians and dentists have looked at Emma’s mouth. “No one can believe she ever had surgery to her tongue, the repair was done so well that no one can even see the stitches and the function is optimal.”
It appears that little Ruby, born in 2021, may also be a candidate for the surgery in the future. Crystal finds peace in knowing where to obtain care for her.
“We are fortunate to have found great care providers. I feel so much more confident knowing that the care team at Nicklaus Children’s is just a short journey away.”
