As originally reported in SF Gate,
Jeannette and Victor Vega quickly realized that taking care of their second daughter, Tiana, was not going to be so easy this time. From Tiana’s birth, she was crying incessantly and her mother couldn’t sleep more than two hours at a time. It didn’t matter how much they used white noise machines, colic remedies, swaddling, and a variety or technologies and techniques used to calm babies; neither mother nor daughter slept a wink for her first years.
Then there was her slower development, something Jeanette realized early. She was subscribed to receive emails that notified her about the developmental milestones, and could see time passing and Tiana falling behind, not yet reaching her first steps, words, reading. Slowly but surely though, she was maturing. She spoke a few words, “Mama” and “bye”, and she began to walk, a development that came late and was celebrated. She had thought her daughter may be slower to progress, but would eventually develop typical skills. It seemed she was catching up.
They started to see that the progress didn’t stick. After speaking for the first time, she stopped. One day, her mother noticed her unable to climb the same plastic slide in their yard that she had done just a week prior, without challenge. A moment later, she stayed sitting while her mother told her to come to the car, her mother noted it seemed she wasn’t able to.
At this point, she reported to her daughter’s physical therapist that it seemed she was regressing. While Jeannette had already been seeking her for her daughters significant but undiagnosed developmental delays, this was different; she was developing with therapy, but now the signs of progress were absent. Jeannette noticed her daughter was grinding her teeth and had staring spells around this time, a symptom of epilepsy. She went to a neurologist who couldn’t nail down what condition it was despite brain scans, genetic screens, and chromosomal analysis.
The family got to take part in an initiative between the University of Alabama and the HudsonAlpha Institute for Biotechnology, a nonprofit. Together they were launching a project to try to identify disorders in children with neurological disabilities but lacked a diagnosis by using whole genome sequencing. The project was named “Clinical Sequencing Evidence-Generating Research,” CSER. Tiana was one of the children enrolled.
In the six months before results came back, they continued searching and had settled on autism as her hand movements seemed like people her father had known before with the condition. Doctors and psychologists suspected the same.
When the family got the genetic sequencing back though, it told another story, a tragic and more devastating answer. She had a mutation on the MEP2 gene, the diagnosis for Rett syndrome.
What is Rett Syndrome?
is a genetic disorder that impedes brain development. The affected gene is crucial for brain functioning, and so the neurodevelopmental disorder is degenerative and incurable. Its random mutation is linked to the X-chromosome, so the majority of patients are female. For males, getting the disorder is rare in the first place and those who do tend to pass away in infancy. After the first year and a half, the girls tend to regress in speech and motor skills. They girls cannot communicate as they cannot speak or move, and thus it is hard to assess their cognitive abilities. The disorder affects 1 in 10,000 females in the US. The conditions reduces life expectancy with some living into their 40s. There is no cure and the disease is degenerative, so treatment addresses managing symptoms and difficulties.
Jeanette and Victor describe their devastation at the news of what was to come. The counselors connected them to families with the same diagnosis and the couple were very active in learning about the disease and being as informed as possible moving forward. They moved back to Madison to be closer to their friends and family, who would support them more. Victor has found comfort reaching out to dads in the same position. Tiana goes to school now, assisted by an aide provided by the school. She has different technologies to help her, a feeding tube to helped her gain nutrition, and a device that helps patients communicate by tracking eye movements. After a diagnosis like this, a family can only move forward.