By James Rincon

Pflag Reporter

It has been more than a decade since one Pflugerville mother heard her daughter’s voice. In late June, Lora Barrick-Ramirez found out why her daughter Brenna went silent years ago.

Brenna has Rett syndrome, an autism-spectrum disorder that renders girls silent and non-ambulatory when they are around a year old. Rett syndrome sufferers are nicknamed silent angels because they lose their ability to speak and the disorder, with rare exception, exists only in females. Now, Barrick-Ramirez is campaigning to give her silent angel a voice.

Barrick-Ramirez requested the Pflag use Brenna’s first name only.

Thirteen years ago Barrick-Ramirez brought her 9-month-old daughter to the pediatrician. Brenna was born a healthy baby. She grew and developed like any other infant does, learning to low-crawl like a little army soldier, recognizing faces and saying “Mama” and “Dada.” But when Brenna didn’t learned to walk or even to crawl on all fours, Barrick-Ramirez, mother of four, knew something was wrong.

Fourteen-year-old Brenna sits in a wheel chair. She still cannot walk nor speak. Her mental development is that of a toddler and until June of this year her mother did not know why, despite years of visiting doctors.

“I went 13 years in the dark thinking that I did something to my daughter during pregnancy,” Barrick-Ramirez said. “At least once a week I would look at her and bawl, thinking ‘What did I do to you?’”

In 1999 Dr. Huda Y. Zoghbi of the Jan and Dan Duncan Neurological Research Institute in Houston discovered the MECP2 gene, the gene attributed to the cause of Rett syndrome.

Girls with Rett syndrome show rapid regression in language and motor skills when between 6 and 18 months old, then stabilize at that regressed state. They typically lose use of their hands to a repetitive wringing motion.

In some girls the condition includes screaming and crying fits, panic-like attacks, tremors, seizures, decreased head size and autistic features, according to the U.S. National Library of Medicine.

Brenna does not speak or walk and takes medication for seizures, but otherwise does not display any of the aforementioned characteristics of Rett syndrome. She is atypical. The lack of many of these symptoms, especially the hand wringing, contributed to her long delay in diagnosis, said Barrick-Ramirez.

“It was hurtful because that was 13 years of blaming myself, when really this is a genetic mutation. There’s nothing I did that caused it,” she said. “That’s something that angers me, and I don’t want anyone else to have to go through that.”

Barrick-Ramirez transformed her hurt and anger into constructive motivation and started rettsyndromeawareness.com. The Web site is the hub of Barrick-Ramirez’s campaign, which began with a letter she sent to Oprah Winfrey asking the television show host to be the voice of the silent angels.

“The minute I sent it I thought, ‘Are they going to hear my one little voice with this one submission out of the millions that they probably get daily?’ So almost immediately after I sent it I sent a little message out to my Facebook friends saying ‘Hey, who would like to go in with me on this letter-writing campaign?’” Barrick-Ramirez said. “So I think if we can get Oprah involved everyone would know her voice. She’s like the number one woman in the world and this is a women’s disorder.”

Barrick-Ramirez’s letter-writing campaign, “Oprah Speaks for Silent Angels,” now receives support from more than 1,500 people on Facebook. Letters are pouring in from as far as Israel, Belgium, Japan and the United Kingdom from visited her Web site. Barrick-Ramirez gets letters from the students and teachers of more than 60 schools across the country, including Brenna’s school in Pflugerville ISD.

“Pflugerville school district – I can’t say enough about,” Barrick-Ramirez said. “I’ve been so happy. The special education program, the teachers; [Brenna] has had the same one-on-one aid for three years. She left the elementary school and followed Brenna to middle school.”

She has made plans to deliver the letters to Winfrey’s studio in a Road Scholar Transport semitrailer dedicated to raising awareness for the International Rett Syndrome Foundation. Barrick-Ramirez said that the visibility gained if Winfrey dedicates a show to teaching about Rett syndrome will hopefully lead to increased diagnosis of girls like Brenna and some day maybe a cure.

In 2007, Adrian Bird, a professor of genetics at the University of Edinburgh in Edinburgh, Scotland genetically modeled mice with MECP2 genes and turned the gene off. When the gene was not producing its protein, the mice died. Bird and his researchers performed the experiment again, allowing the mice to get sick. Then they gave the sick mice a drug that turned the MECP2 gene on and the mice were cured.

Dr. Jeffery Neul is the Anthony and Cynthia Petrello Scholar at the Jan and Dan Duncan Neurological Research Institute and the assistant medical director of the Blue Bird Circle Rett Center of Texas Children’s Hospital in Houston, where Brenna goes once a year for a checkup.

“[Bird’s research] is probably one of the most exciting developments because it shows that the disease can be reversed if you reestablish the function of this protein,” Neul said. “The mouse experiments give us a sense of where we would like to go with research and gives us hope. If those experiments didn’t work we would say that [Rett syndrome] is an irreversible condition. Now we can say it is reversible, but it’s like knowing where you want to go, but you still don’t have the map to get there.”

Neul said educating families and physicians and raising awareness about Rett syndrome helps researchers collect more and better data that will be vital to understanding the condition. At the Blue Bird Circle Rett Center, he and other MECP2 experts operate an international counseling hotline for doctors who need information about diseases linked with mutation of the gene.

“We know a lot about the people who have typical Rett syndrome and all of the clinical features; 95 percent of those people have mutations in that gene. We know a fair amount of people who have these variant forms and probably 50 to 70 percent have mutations in this gene. It’s the people who have the mutations and other clinical conditions whom much less is known about. I think that is a very important group of people because I think that group of people are the under recognized.”

Brenna’s condition is an example of this lesser-known variant of the syndrome, but her mother has made strides in her pursuit to get the word out.

“If Oprah says no, we’ve already won because thousands of more people know about Rett syndrome who didn’t before. This [campaign] has just gotten to be on a scale that I had no idea it would,” Barrick-Ramirez said. “I’m hoping there will be mothers who are like I was before June this year who will be sitting there watching, thinking ‘oh my gosh, my daughter did those things’… Now that we know that [Brenna] has Rett syndrome there’s hope. That is something that has just changed our lives. To me that’s priceless.”