The Results Are In…

On August 5th, 2019, our family was boarding a plan for a 10 day vacation to Grand Cayman. This was supposed to be an incredible trip with our 2 children, brother, sis-in-law, nieces, nephew, mom and dad. We had been planning this trip for a year! As we waited for our taxi to pick us up from the Airport and take us to our hotel my watch started ringing. I could tell the number was probably the dr’s office, but I couldn’t answer from my watch, because the noise in the airport was so loud. I panicked trying to find my phone amongst all the backs we had with us…having 2 kids under 4 means you have a ton of carry on bags. By the time I found my phone, it had stopped ringing. Then, it started again! I hurried to answer it and found Jackson’s dr on the other end. She mentioned she was received a weird message the first time she called and I informed her it was because we were out of the country. Her response, “Oh!” In that moment, that “Oh” told me what I needed to know. She continued to tell me that Jackson has over 200 repeats, giving him the full mutation and having Fragile X Syndrome.

Standing in the airport, in another country, with one hand on the stroller I broke down in tears. All of our lives were totally changed by this news. She then proceeded to tell me a medical term, Partial Methylation, but she said she wasn’t sure what that meant and by the time we got back to the US we would setup a meeting to talk through everything.

So now we are supposed to go enjoy our trip not knowing part of the diagnosis and wait probably 2 weeks or so until we can get into her office and find out what exactly all this means….luckily I have drs in my family who could help us understand all of this and they just so happened to be on our trip too!

Best case scenario for someone with a full mutation of Fragile X Syndrome is having partial methylation, which means the FMR1 gene, which generates the protein for brain development is partially turned on. Other cases that have full methylation mean the protein is not turned on.

Next steps for Jackson were to begin 8 hours of therapy a week. They use the Early Start Denver Model (ESDM), which primarily focuses on children with autism. And while not all people with Fragile X are Autistic, they do have symptoms that resemble Autism.

Stay tuned as we start to look at therapy sessions, the hunt for daycares, and celebrating milestones!