Rodriguez family brings awareness to rare disorder

Hailey roderiguez photo by Mercedes RoderiguezOut of the 7 billion people in the world, 3-year-old Hailey Rodriguez, sister of Carmel High senior Mercedes Rodriguez, is one of approximately 600 people diagnosed with the rare contiguous genetic disorder called Phelan-McDermid Syndrome.

“[Hailey’s] different in almost every way from a normal 3-year-old,” Mercedes explains. “She can’t say more than three words or understand conversation, she lacks muscle tone so she doesn’t walk steadily, she’s not potty-trained, she behaves differently and has some autistic-like characteristics, and recently she’s always been sick.”

Hailey has been admitted to both the Community Hospital of the Monterey Peninsula and the Stanford Medical Center, says Mercedes, who adds that Hailey has had close to 10 chest x-rays, EEGs and brain MRIs.

Inducing symptoms like sleep disorders, seizures, the inability to develop functional language, low muscle tone and poor motor control, Phelan-McDermid Syndrome is the result of the deletion of Chromosome 22’s distal long arm.

“We found out she has [Phelan-McDermid Syndrome] in July 2013,” Mercedes says, “and when we found out, we were happy to finally have an answer after months of not knowing, but also totally heart-broken.”

Although Hailey was diagnosed with Phelan-McDermid Syndrome, the U.S. National Library National Institute of Health reports the condition has been hard to diagnose.

“Historically,” the U.S. National Library of Medicine reports, “this condition has been under-diagnosed due to the failure to recognize the clinical and behavioral phenotypes and the difficulty in detecting the deletion by available laboratory methods. Recent microarray techniques are capable of identifying microdeletions of [Phelan-McDermid Syndrome] that would have been undetectable in the past.”

Parenting Special Needs reports a special test, a DNA probe, is used to detect whether the long arm of the 22 chromosome is present or not. Microarray comparative genomic hybridization is a more recently developed technique to identify the loss or gain of chromosome material and is more sensitive.

Because of the rareness of the disorder and Hailey’s situation, the Rodriquez family is focusing on raising awareness to Phelan-McDermid Syndrome through social media with websites like Gofundme.com.

While the family’s primary goal is to raise awareness, they are also raising money to send the 3-year-old to a convention in Florida. The convention will host various conferences with doctors and scientists along with other families with members diagnosed with Phelan-McDermid Syndrome.

Through the website, the Rodriguez has raised $2,825 within one month. Other businesses around Carmel have also volunteered and allowed the family to put jars in their stores to raise money, Mercedes says.

“Although it’s stressful at times having a little sister that’s different and doesn’t understand things the way everyone else does, my family and I are blessed,” the senior says. “She has the best personality and humbles my family every day. I couldn’t be happier to be her big sister.”

-Caitlin Chappell