Tell us about Chloe’s diagnosis.
Chloe was ultimately diagnosed when she was age 2. She had genetic testing done at age 1 and the neurologist caught her CMT1a but the geneticist missed her PTLS diagnosis. I connected with the Rare Chromosome Organization out of Europe and they put me in touch with another mom whose son had a similar duplication. After talking to her, I was certain Chloe also had PTLS. I mentioned it to the geneticist and he said, “She is just delayed, she will be fine. If she had that duplication, she would be in a wheelchair on a feeding tube. I continued to argue with him for a year while he continued to stick Chloe with needles testing her for Angelman’s and Fragile X, etc. He even did a muscle biopsy on her. At age 2, the other mom sent me the journal article about PTLS that Potocki and Lupski had published. At our next visit, I brought it to the geneticist highlighted with why I thought Chloe had PTLS and he brought it to me highlighted with why she didn’t. I told him that I was her mother and I wanted her retested with microarray analysis (vs FISH which is what they used the first time). When the results came in, the geneticist emailed (yep, emailed) me that the microarray analysis confirmed she had CMT and that she also had PTLS. When Chloe was 3, we participated in the study being conducted by Dr. Potocki at Baylor. She kept asking me why I put Chloe though so much testing. I kept saying, “we were trying to figure why she was so delayed.” She pulled out the original FISH study that was done at age 1 and showed me the diagnosis. The geneticist missed and wouldn’t listen during that whole second year of testing that he did on our poor girl.
Could you please describe your feelings when you received Chloe’s diagnosis?
When we received the right diagnosis when Chloe was 2, I called Dr. Potocki. She assumed Chloe wasn’t walking or talking but she was walking just fine, she had some words but her speech was definitely delayed. In my mind, she must have been defying the odds because she could many of the things Dr. P assumed she couldn’t. That said, when we got to Texas Children’s Hospital and began all of the testing, things got real. I met with a wonderful psychologist named Dr. Paige Powell. I didn’t know this but after our meeting, she called Dr. Potocki and said, “I think this mom is going to break down very soon, probably during this visit” or something to that nature. Later in the day, Dr. Potocki sat me down with me and went through a PowerPoint describing kids with PTLS. This was when the words mentally retarded were still used. That’s when I lost it. I knew that cognitive disabilities were a part of our future but seeing that on paper triggered the emotions that had been building for three years. Within minutes Dr. Powell was in a room with me and spent hours listening and sharing resources. I will always be thankful for this amazing woman as she made all the difference in those few hours.
Early on, Chloe was on oxygen for about 6 months. She was also allergic to dairy, which took us a while to figure out. Once I quit breastfeeding and started using rice-based formula, she stopped throwing up and packed on the pounds. Food textures were her next struggle but we worked through that by experimenting and a blender. She became very aggressive at some point as a toddler. She bit, pinched, pulled hair, hit and pushed. We put her on risperadone which helped tremendously and thankfully, she eventually outgrew that behavior. Her speech was delayed but we found The Listening Program and by age 3.5 or so she was speaking in full sentences. We continued to do speech therapy for a while to improve enunciation. She made some really good friends and I would say then the hardest thing for all of us is the emotional pain of people outgrowing her and moving on. The other biggest struggle is getting the schools to follow her educational plan. We have been blessed to have a couple great teachers who believed Chloe was more than her diagnosis. In kindergarten, Chloe didn’t understand letters made words and couldn’t read. We found an excellent reading tutor and Chloe reads and spells like a champ! That was life changing for all of us! Her biggest struggle remains building lasting relationships. Thankfully she has had twin friends who have been her best friends for about 8 years now.
What Difficulties does Chloe face?
What are your worries / thoughts for the future?
I worry about the years following high school. Chloe graduates in 2024 and I am not sure what that looks like, especially after transition services are done. Will Chloe find meaningful work or activities? I don’t want her to be at home on devices all day! I worry about her being taken advantage of given the vulnerability of this population. I also worry about what will happen when we are gone. Who will be her biggest advocates? I’m hopeful she will attend an inclusive college program in the near future and that that will open many doors for her.
What kind of things does Chloe enjoy doing?
Chloe loves hanging out with friends, jewelry and jewelry making, art, movies, and she still loves pretend play. Sometimes she enjoys reading and loves watching Instagram reels.
Why is research & a potential treatment for PTLS important to you & your family?
Anything else you would like to add?
Lean into your PTLS family. I can’t tell you how important these relationships are to us. Just comparing notes and knowing we aren’t alone makes all the difference. Don’t let your preconceived notions of PTLS limit your child’s ability to do what they are capable of doing. Advocate with the school system and the healthcare system. Hire an advocate if you don’t feel you are being successful. Do lots of early intervention with therapy. And get your child involved in as much fun stuff as you can!
I think this changes over the years. When the kids are younger, it is more of the physical / behavioral issues with which we dealt that really made research important. Now, it’s more emotional. We want Chloe to have a very fulfilling life that she can live on her own or with someone she loves. If research could limit the expression of the third copy of RAI1, I truly believe this could happen.