On June 13, 2017, Tomi and I welcomed our baby girl, Rhyan Olivia, into the world. She was 7 lbs. 6 oz. of perfect, and we were so in love. Rhyan developed normally for the first 18 months. She rolled over, sat up, learned to use her pincher grasp, and started to talk just like a typically developing baby. She was so smart and so eager to talk and communicate with us.
She finally started walking at 18 months, but some other things started to happen around then, too. Our girl, who was so communicative and had more words than most kids her age, stopped talking. Her vocabulary had reduced mostly to babbles and few actual words. Concerned, we asked her pediatrician, who said sometimes, when kids start walking, they can stop focusing on their words, so give her some time.
About a month or so went by and she wasn’t using words she had been and still wasn’t learning any new ones. Her pediatrician suggested we start in speech therapy, so we got on the waiting list at HSHS St. John’s. During this time, we noticed her balance was getting increasingly worse and she was spending a lot of time with her hands in her mouth and not using them functionally.
Next: Therapy, Neurologist
Around August of 2019. we had her speech therapy evaluation and the therapist suggested she have an Occupational Therapy Evaluation due to the loss of hand function, so we scheduled that. The OT suggested we get her in with a neurologist because she thought something else was going on.
We were scheduled to see the Neurologist Oc. 31, 2019, but on Oct. 19 Rhyan had her first episode of seizures. It was the most terrifying thing I have been through as a parent. There was nothing I could do but watch. They ran all the tests, CT, EEG, and bloodwork. Everything came back normal and we were told that sometimes kids have unexplained seizures and were sent home.
We saw the neurologist a few weeks later and she added physical therapy for Rhyan, because she had a wide gait and low muscle tone. We also found out at this appointment that Rhyan had Acquired Microcephaly, but we weren’t sure what had caused it.
Dec. 19, 2019 Rhyan had another episode of seizures. They ran all the tests again, but this time they also did a 24-hour VEEG, which showed that she had seizure activity on both sides of her brain, making it difficult to tell what was causing them. We were sent home with the diagnosis of epilepsy and a prescription for Keppra. On Dec. 29 Rhyan had an MRI and the results came back normal. We were happy, but still had so many questions. The neurologist let us know there was a company offering free genetic tests to children under 5 who had had more than one unprovoked seizure called “Behind the Seizure.” Feb. 8, 2020 we got the results back. Rhyan had Rett Syndrome.
Rett Syndrome is a rare genetic condition caused by a mutation on the MECP2 gene that effects every aspect of life. It has been described as epilepsy, cerebral palsy, Parkinson’s, and autism all wrapped up into one little girl. This disease typically effects girls as mutations in the MECP2 gene are fatal in boys. Every girl with Rett Syndrome presents symptoms differently, and specialists are unsure what causes such a wide range of severity. Shortly after Rhyan’s diagnosis I found a Rett Clinic at St. Louis Children’s Hospital, and we moved her neurology care there.
Rhyan still has the ability to walk and her doctors are fairly confident that she will retain that skill long term. She is, for the most part, non-verbal but does have a few words. She has almost no functional hand movement left in her right hand and very little in her left. Some days are much better than others as far as her ability to feed herself and communicate. The cognitive ability of girls with Rett Syndrome remains intact. They are in there and understand the things going on around them.
Now You Know, Too.
In honor of Rett Syndrome Awareness Month this October, Rett Syndrome Research Trust has launched an awareness campaign, “Speechless For Rett.” Loss of speech is one of the most challenging symptoms of Rett Syndrome. They are asking that on Oct. 24 at 1 p.m. Central time everyone spend an hour without talking, not even a whisper. If you visit the website -- reverserett.org -- you can register for the event and receive your own “Speechless For Rett” mask! If you would like to continue to follow Rhyan’s story, you can follow her page on Facebook “Rhyan’s Journey Through Rett”