When Cora and Tray’s twins, Charlie and Olivia, were missing some developmental milestones, they asked to be referred to a genetic specialist.  At that time, the girls were diagnosed with autism but the doctor also wanted to run a test for a rare neurological disorder.

Cora and Tray googled that disorder as soon as they got home.  They were overcome – the more they learned about Rett syndrome the more the feelings of anxiety and sadness grew.  A few weeks later, however, when the results came back positive for Rett syndrome, they felt relieved.  They finally had a diagnosis and could come up with a game plan.

Twins living with Rett Syndrome

What Cora and Tray found in their research is Rett syndrome s a mutation in the MECP 2 gene. This gene controls motor function, aspects of communication, breathing and other things. Charlie and Olivia have a milder form of the disorder. Children with more severe forms tend to have daily seizures, can’t use their hands, and grind their teeth constantly.

This disorder is so rare that only eight other sets of twins in North America have been diagnosed with Rett syndrome. Because it is so rare, there is not a community specifically for Rett syndrome. Cora and Tray’s family, however, have been very supportive throughout their journey.

Finding Support for Rett syndrome

Charley and Olivia have “brought everybody closer together”. Their extended family has expressed constant interest in wanting to know what they can do to help the girls. Extended family and an online Rett syndrome community have made a big difference in another way as well. Rather than dwell on the diagnosis, family members have pushed those feelings aside and focus on the positive instead. Cora believes their situation would definitely be different if they didn’t have a local, family support system.

Rett syndrome affects Communication

Charlie and Olivia are almost three years old. When they can’t communicate what they need or want, they become very anxious. They get so frustrated because “all the cognitive abilities are there, but the wires aren’t connecting to make that happen.”

Overcoming a lack of communication has been challenging. By taking their girls to speech therapy and attending educational webinars and seminars themselves, Cora and Tray have found resources that proved helpful.

A mechanism their girls use is a Tobii gaze device. It helps them communicate by tracking their eye gaze for different symbols. Seeing them be able to use this machine brings Cora and Tray a lot of joy. This has turned their struggle into a positive.

Celebrating the Little Milestones after a Diagnosis

Cora explains that once you get past the fog of a brand-new diagnosis, you get to celebrate the little milestones. With Rett syndrome, symptoms don’t become apparent until 12-18 months of age. Then all of a sudden your child goes through a period of severe regression. They’ll stop saying words they knew and even stop using their hands to point or reach.

As time passes, the regression levels out and they can begin the process of relearning. As Charlie and Olivia have begun to relearn things, their parents have realized these two girls are hilarious. They understand humor and are witty. Their sweet personalities are described as “a gift that keeps on giving”.

What Parents Should Do if Child is Diagnosed with Rett syndrome

“Reach out to your community” is the first bit of advice Cora gave. Even though Rett syndrome is a rare disease, there are many other neurological disorders with similar symptoms. Those parents and the resources available to them may be of help to you too.

Another thing to keep in mind is to manage your time wisely. You will need to address medical needs, communication challenges, educational progress, social interaction, etc. It is too overwhelming to try and do all at once. Focus on ONE area at a time, gather the resources you need, and give it your best.

Cora’s last bit of advice is to love your children first and then everything else will fall into place. “You’re so much stronger than you think you are.” You don’t have to go through this challenging time alone because there are numerous resources out there for parents of children with Rett syndrome.

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