In the picture above, Brooke Allen is giving kisses to RMRA’s board member John Schaffner.
“I’d never heard of Rett Syndrome until it became our whole world”
Brooke was recently diagnosed with Rett Syndrome and her family went from no knowledge of Rett to having it dominate their life in just a few months.
Born at 36 weeks, Brooke spent the first 15 days of her life in the NICU. After that, everything seemed pretty normal for the first 9 months. Then the family noticed that Brooke started to miss a lot of her milestones. At 1 year, her pediatrician recommended a physical therapist and a developmental therapist. At 15 months, a geneticist recommended a barrage of tests. After several months of various tests and fighting with the insurance company, many possible genetic disorders were ruled out. But one of the last tests on the list was the MeCP2 genetic test. On December 4th the family received the devastating call from the Genetics Coordinator that Brooke was diagnosed with Rett Syndrome.
Her dad Justin says:
“We have been to our first Rett Clinic and we also added speech and occupational therapy. Going to the Clinic is a ‘must’ for everyone newly diagnosed! The specialists there really cared about Brooke and their experience with Rett is key, especially because it is a rare disease. We got lots of valuable advice and the diet & nutritional information was particularly beneficial. There is a village of people that support our amazing little girl and we are glad to know that we have a support system and can come back regularly. Besides, going to the clinic gave us the opportunity to talk to families with older girls and we realized that it is a condition that can be managed and that parents find solutions to navigate insurance matters. It gave us lots of hope.”
Also check out the blog written by Brooke’s aunt!