Rare Diseases

'I can't erase this diagnosis': Mom writes emotional post about daughter's rare genetic disorder

Gabby Rodriguez was diagnosed with Rett syndrome in 2010.

Gabby Rodriguez was diagnosed with Rett syndrome in 2010.  (Cincinnati Children's Hospital)

In 2007, Gabby Rodriguez was born a healthy, happy girl and began developing on track with her three older siblings. But about a year and a half later, her mother, Jody, noticed she began regressing; her little girl, who had once been able to say her name and other words typical of toddlers her age, suddenly couldn’t.

By age 3, Gabby stopped speaking. Her constant hand movements, and other issues with mobility and communicating led doctors at Cincinnati Children’s Hospital to test for Rett syndrome, a neurological disorder that occurs more commonly in girls than boys, and is marked by a mutation on the X chromosome involving the MECP2 gene.

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“So you can imagine if that’s in all of your proteins, all of your genes and all of the cells of your body, then if you have one gene mutation that leads to the abnormality where it doesn’t make that necessary protein, you’re going to have a lot of function that is delayed, abnormal, doesn’t happen,” Dr. Shannon Standridge, co-director of Rett Syndrome Clinic at Cincinnati Children’s Hospital, said in a video posted to a Cincinnati Children’s blog.

Rodriguez shared in an emotional blog post about seeing Rett syndrome through a mother’s perspective, explaining that she had never heard of the disorder until her own daughter was diagnosed.

“I will never forget the day. It was February 2010. I was driving home after picking up my kids from school. My phone rang and it was the call I had been anxiously awaiting,” Rodriguez wrote. “The doctor was calling with my daughter’s test results.”

Although Gabby, now 9, is considered to be in the higher-functioning category of Rett syndrome patients, she is unable to communicate verbally or with her hands, and requires constant supervision. She can’t perform simple tasks like using the bathroom or brushing her teeth, and her family must rely on watching her body language to interpret her needs.

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“She cannot do sign language, so it’s a lot of reading her body language and using some eye gauge and just watching — observing a lot is how we communicate,” Rodriquez said in a video accompanying her post. “The most challenging part of that is when she is in distress, I don’t know what’s hurting her and that’s the hardest thing.”

Although there is no cure for Rett, Rodriguez enrolled Gabby in a clinical trial at the Rett Syndrome Clinic, and she is currently participating in another treatment. She hopes that by sharing Gabby’s medical information with others she will not only help her daughter but also others facing a Rett diagnosis, and that the family is part of finding a cure.

“So many things about Rett syndrome are out of my control,” Rodriguez wrote. “I can’t erase this diagnosis for Gabby. I can’t bring her speech back. When she’s in distress, I have a hard time comforting her. It’s a hard position for a parent to be in. I know that her participation in research is something we can control. I would love to see a cure in her lifetime. The possibility brings me hope.”