Rett Syndrome: A Conversation with Karen
In Episode 2 of The Rare Remix Podcast, we were joined by Karen, a single parent of three: 15-year-old twins Christian and Caden, and 30-year-old Lynzie, who has Rett syndrome.
A Promise to Lynzie
Karen shared that Lynzie enjoys music (mom says she’s a Swiftie). She also enjoys taking cruises, which have become an annual tradition. She explained, “I made a promise to Lynzie when she was probably around 15 that I would take her on a cruise once a year because that’s her favorite thing. She likes the water, and sitting and watching the water. So I’ve made that commitment to her… you should see her face light up when I tell her, “Guess what? I planned the yearly cruise!”
Karen describes her daughter as sweet and easygoing, but Lynzie must rely on others for her daily care and does not walk, speak, or feed herself independently.
Advocacy and Independence
Receiving Lynzie’s diagnosis changed Karen’s life completely. It also marked the beginning of her work as an advocate—not only for her daughter, but for the broader rare disease community.
During our discussion, she talked about the importance of advocacy in various forms: with legislators, during visits with doctors, and when deciding on living arrangements for loved ones.
Lynzie now lives in a private apartment with her cousin, who also requires around-the-clock care. Supporting Lynzie’s move was one of the most emotionally difficult decisions Karen has faced.
“It was very difficult for me to let go of Lynzie. It was so hard,” she said. “On the days when I just want her to come home and stay, I remember my dad saying to me, ‘Karen, if Lynzie were 18, she would be graduating from high school—and where would she go? College. She’d want to be out on her own.’”
A Journey Without Social Media
Lynzie was diagnosed with Rett syndrome in 1999, the same year Dr. Huda Zoghbi and her colleagues linked mutations in the MECP2 gene to the disorder.
Although science was advancing, practical information for families was still difficult to find. Karen recalls receiving information from a nurse and visiting the library whenever she needed answers.
“My whole world changed dramatically because I was on a mission to figure out what was available for Lynzie and where I should go from there,” Karen said.
At the time, she also remembers being told, “Lynzie probably won’t live past 20.”
“And here she is at 30,” Karen said.
Connecting with other families was very different then. Parents whose children had recently received a diagnosis did not have social media groups where they could quickly find information, friendships, and support.
Karen said the National Organization for Rare Disorders (NORD) helped her locate resources. Disease-specific advocacy organizations also became an important source of information throughout her journey.
Respite Care
We also discussed respite care and how Karen managed her responsibilities as a solo parent while Lynzie was growing up. Respite services provide temporary support for a person with care needs, giving family caregivers time to rest, manage other responsibilities, or care for themselves.
“Respite—I mean, it’s so real,” Karen said. “I was lucky enough that a physical therapist said to me, ‘Lynzie would really qualify for this waiver program. You need to look into it.’ There needs to be more people talking about it.”
A Rare Parent Superpower
Karen says her rare disease journey has given her the parent superpower of empathy.
“If there’s anything that my daughter has taught me, it’s to be empathetic and not ever feel sorry for yourself,” she said. “Think about the life they have. When I have a bad day, I’m like, ‘That would be a good day for Lynzie.’”
RESOURCES & LINKS
For Newly Diagnosed Rett Syndrome Families
Specialists and Finding Community for your Rare Disease
Find Resources in your State
Respite Care
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