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‘I can not clear with this diagnosis’: a Mother writes emotional post about daughter’s rare genetic disorder

Gabby Rodriguez was diagnosed with Rett syndrome in 2010.

(Cincinnati Children’s Hospital)

In 2007, Gabby Rodriguez was born with a healthy, happy girl and started development on schedule with her three older brothers and sisters. But about a year and a half later, her mother, Jody, noticed they started to transition; her little girl, who had ever been able to say her name, and other typical words of toddlers her age, suddenly could not.

By the age of 3, Gabby stopped speaking. Her constant hand movements, and other problems with the mobility and communications led to doctors at Cincinnati Children’s Hospital to test for Rett syndrome, a neurological disorder that is more common in girls than boys, and is characterized by a mutation on the X chromosome, in which the MECP2 gene.

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

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

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

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

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“They can’t do sign language, so a lot of reading of her body language and the use of the eyes to measure and see what is there — with regard to a lot is the way in which we communicate,” Rodriguez said in a video at her post. “The most challenging part of that, if they are in need, I don’t know what is hurting her and that is the hardest.”

Although there is no cure for Rett, Rodriguez enrolled Gabby in a clinical study of 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 her daughter, but also others faced with a Rett diagnosis, and that the family is a 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 not bring her voice back. If they are in need, I have a hard time comforting her. It is a difficult position for a parent to be. I know that her participation in the study is something we can control. I would like to see a cure in her life. The possibility brings me hope.”

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