If you’ve never heard of Rett syndrome, you’re not alone. But researchers and parents of children with Rett syndrome want to change that as they work hard for a way to reverse it.
Rett syndrome is a rare neurodevelopmental disorder that manifests during early childhood and, as of now, there is no cure.
It affects mostly girls, although there are some rare cases in boys. Just last week, NBC News reporter Richard Engel opened up about his son’s battle with Rett syndrome.
Children with the disorder are usually born healthy and may develop normally until 6-18 months of age when their development suddenly slows and then regresses. Children who have been able to walk and talk lose those abilities. The disorder not only takes away communication skills and motor skills, but it often causes seizures, breathing problems and other medical issues.
The disorder is caused by a genetic mutation of the MECP2 gene, which results in a shortage of the protein needed to direct other genes.
Jenny Starnes Tesler’s daughter Magnolia was diagnosed when she was 3 years old. Magnolia is now 7. For the past four years, Tesler and her husband have made it their mission to increase awareness in an effort to reverse the disorder. They’re working to raise money through various fundraising events across the country. One of those events is coming up this weekend in Austin. “Reverse Rett Austin” has sold out of tickets for Saturday; however, people can still make a donation. The Teslers have even launched a Facebook page, a website and a YouTube channel all titled “Magnolia’s Hope” because they have hope that one day there will be a cure that could give back to Magnolia all of the things that Rett syndrome has taken away.
Q&A with Jenny Starnes Tesler
Q: When did you know something wasn’t right with Magnolia?
Tesler: We first noticed things were off, right around Magnolia’s second birthday. Her speech had slowed in progress and she started to react to loud noises differently than she had before. We’d eventually learn that this is a kind of sensory-processing issue. Her doctor said everything would be fine, but we knew something was wrong. We had been going to a toddler music class for a year, and she loved it. One day, she started to scream bloody murder and that was that. Restaurants, public places, anywhere with noise, she couldn’t handle it very well.
Q: How long did it take to get the proper diagnosis?
Tesler: About a year. We were told over and over, that she would be fine. A few months before her third birthday, she started having intestinal issues. The doctors were baffled. Her doctor decided to run a genetic test for everything. The test came back positive for Rett syndrome.
Q: What kind of challenges does Magnolia face on a daily basis?
Tesler: On a daily basis she has trouble regulating her breathing; her breathing alternates between hyperventilating and breath holding. She has seizures that she is medicated for. She has balance issues, her arms are in constant motion, she is unable to use her hands, she has lost her speech, and her GI is in constant need of regulating. She needs 24-hour care, and while she knows how to, and prefers to do it herself, her body won’t cooperate to feed herself, drink, toilet or anything that requires her to use her hands.
Q: What are the challenges you face as parents on a daily basis?
Tesler: On a good day, we manage to find time to enjoy the little things. Our lives are in a constant state of need and stress. Magnolia relies on us fully for daily care, safety and medical needs. Rett syndrome is a progressive disorder, so we are constantly fighting the clock, to slow down the progression. Our days are filled with caring for Magnolia, taking her to therapy, at-home therapy, schooling and managing her medical needs. Not to mention, trying to give her a full and happy life in spite of what she has to go through. Cognitively Magnolia is age appropriate. She tests above grade level and is very smart, she is just trapped in her body that doesn’t work as it should.
Q: Tell us about some of the efforts to “Reverse Rett.”
Tesler: This past year Rett Syndrome Research Trust announced their Roadmap to a Cure. We have been following it very closely and it seems realistic and promising. There are various avenues in which they are focusing to find a cure, but the closest one that seems plausible is gene therapy. If gene therapy works as well as we hope, that’s it. That’s the cure. If it doesn’t, then hopefully one of the other avenues that they are working on will be successful. That’s why we fundraise, we need all of the avenues to be moving forward at the same time.
Q: How confident are you that a cure can be found?
Tesler: Pretty confident. It seems that it is just a matter of time. For Magnolia though, time is not on her side. Every year that passes, Rett syndrome progresses for her and she loses another year of her childhood. It’s hard to watch.
Q: What can people do if they want to join the effort to reverse Rett?
Tesler: Honestly, it’s helping us bring awareness and donating. Without funding, there is no cure. So we are doing as much as we can so that the cure can happen sooner, rather than later.
Jenny Starnes Tesler grew up in San Antonio and now lives with her husband and their two children in Los Angeles. You can follow Magnolia's journey at Magnoliashope.com.