In 2020 I was a guest on the podcast Once Upon a Gene. The host and I had a long discussion about Emily’s undiagnosed journey. I was very clear with the host (and now friend), Effie Parks, that I was okay not having a diagnosis. I knew a diagnosis was not going to change Emily or “fix her” and our family has an amazing support system. Despite my contentment with Emily’s undiagnosed status, Effie encouraged me to get updated genetic testing for Emily. “Science has changed a lot in 20 years. Don’t settle for a BS cerebral palsy diagnosis if it doesn’t fit Emily,” she said.
After that conversation, I thought about what Effie had said. Emily had a typical and healthy birth. She had an Apgar score of 10. It was picture-perfect. Nothing about a cerebral palsy diagnosis ever made sense to me but I rolled with it. I decided that at Emily’s next neurologist appointment, I would discuss getting authorization for a geneticist. Dr. Dyes agreed it was time to see if science might now have an answer they didn’t have in 2001 and 2002. She put in the authorization. The process of authorization for testing took two years.
The cheek swabs were done in November of last year and sent to the laboratory for processing. In December 2022, I got an email that there were new results in Emily’s MyChart. I logged in only to find I could not see or access the results. I left messages with the geneticist’s office and emailed the geneticist. On January 9th, 2023, I got an email from the geneticist that someone would be calling me from genetics to set up an appointment to go over the testing. The call never came. More messages left and nothing.
Last week I reached out to the company that processed the DNA samples, GeneDX ,to request the results. The customer support team was phenomenal. They sent me some forms to complete to authorize the release of the reports. Less than a week later, the results arrived in my inbox. I printed out the reports and studied them. The report for Mitochondrial Disorders / Sequence Analysis and Deletion Testing of the Mitochondrial Genome: NEGATIVE. My heart sank. Then I saw a second email that followed. I opened it and this one read Diagnostic Testing / XomeDxPlus / Clinical Exome Sequence Analysis: POSITIVE. Did I read that correctly? It says positive? I read through the report a few times but did not fully understand what I was reading:
I emailed the report to a contact I made at the Global Genes Patient Advocacy Summit last year. (Dr. Shruti Mitkus was on the panel I spoke on regarding the undiagnosed journey.) Dr. Shruti Mitkus is the Director of General Education and Navigation at Global Genes. She confirmed that the testing did find some answers and offered to explain how to read the report. She spent almost 30 minutes explaining each column and defining each term used. She was kind and supportive. She did not give me any counseling or advice. Shruti just explained everything in simple terms I could understand. I am very grateful for her time and the support of the incredible organization she works with.
Emily has TBR1-related neurodevelopmental disorder. There are several different variants that are associated with the TBR1 Gene. Patients with the T532Rfs*144, which Emily has, seem to have the most severe intellectual and developmental delays. Now that I had a diagnosis and some information about the disorder, I searched Facebook for a TBR1 group. I found a group and requested to join. I introduced myself and Emily in the introduction thread. The group administrator asked me to share Emily’s variant and I did. Within minutes, she connected me with 9 parents in the group that have a child with the exact same variant. While this disorder is very rare, I was able to find others that have it. In just a few minutes I was making connections to other moms raising a child with the same genetic disorder as Emily.
I was surprised at the emotions that surfaced. I was overcome with a tremendous sense of gratitude that there are other parents that have traveled a similar journey. As I scrolled through photo after photo, I thought WOW! Genes don’t lie. I cried after reading a post about two moms that have daughters with the same variant as Emily. They traveled with their daughters to meet in person and shared a few photos from the meeting. There is a photo of the 6-year-old girl being carried with her legs dangling to mom’s knees, and the 29-year-old in her wheelchair with her mom behind her. Both girls have chewy necklaces in their mouths. Both girls have long, skinny hands and fingers. It was like looking at the past and the future in one square photo. (Emily is being carried on my hip at 6 and Emily is in her wheelchair with me in the near future.) It was clear by my reaction to the images and stories I read, that I desired an answer more than I realized. We all want to know we belong somewhere and that we are not alone. The diagnosis, while not going to change anything, gave me that for Emily. She is not alone and she belongs. There are others that share her rare genetic disorder.
I will be sharing more about TBR1 as I learn more. For now, I will bask in the joy and gratitude of finding a group that I can connect with about struggles, joy, symptoms, and concerns on our not-so-typical and NOW DIAGNOSED journey.
Conversation for Change 