Family by Fate: The Finlaysons’ Journey with Kleefstra Syndrome

An interview with Angie and Nick Finlayson

Q: Can you tell us a little about your family?

We live in Elmira, New York. We have three kids — our oldest daughter, Amelia, is 21, Kathryn is 19, and our youngest, Jacob, is 16. Kathryn is our middle child, and she’s the one who has kept us on a very unique journey.

Q: When did you receive Kathryn’s diagnosis of Kleefstra syndrome?

We finally got that answer in April 2022, just before Kathryn turned 16.

Q: What was life like before the diagnosis?

For years, Kathryn carried a mix of labels but no clear explanation. She was diagnosed with ataxic cerebral palsy and global developmental delay, and we dealt with a long list of symptoms — low muscle tone, delayed speech, learning challenges — without knowing why. Doctors tested her for Down syndrome, suspected mosaic Down syndrome, and later tested for Prader-Willi syndrome, but everything came back negative.

Around 2011, genetic testing showed some kind of anomaly, but it wasn’t enough to give us a diagnosis, so we stopped searching for a while. Life became about managing symptoms and supporting her education, without a roadmap for what might come next.

Q: What brought you back to pursuing an answer?

Honestly, it started with her sister. Amelia has mild autism, and we signed both girls up for the SPARK for Autism research program because Kathryn also has an autism diagnosis. We hoped it could give us more insight into their similarities and differences.

While we were waiting for SPARK results, I stumbled across an article about a young person with Kleefstra syndrome. It sounded so much like Kathryn that I felt I was reading about her. I reached out to Dr. Sid, who connected us with Dr. O’Donnell.

When we met with them, they told us Kathryn didn’t quite fit the typical Kleefstra medical profile — she didn’t have heart defects or seizures — but they agreed to do genetic testing anyway. The results showed she had a gene misspelling rather than a deletion, confirming Kleefstra syndrome.

Q: Why is participating in research important to your family?

Without research, we would probably still be wondering. SPARK gave us a bridge to the right doctors, the right tests, and finally a diagnosis. But it’s bigger than just us — participating means we’re contributing to the body of knowledge about Kleefstra and other rare diseases. Every family that joins a study adds another piece to the puzzle. That’s how we move toward faster diagnoses, better therapies, and more targeted supports for kids like Kathryn.

We continue to stay involved in studies when we can. If something we share can help another family avoid years of uncertainty, it’s worth it.

Q: What type of school does Kathryn attend?

Kathryn is enrolled in an educational program that blends academics with life and job skills. Half her time is spent in the classroom learning things like budgeting, communication skills, and cooking. The other half, she’s out in the community working — stocking shelves, helping in food service, and doing other tasks that build independence.

The program isn’t just about job training. It’s about preparing her for adulthood in a holistic way, building confidence, and showing her what she’s capable of. She’s also part of activities that let her socialize with peers, which is huge for her happiness.

Q: Can you tell us more about Kathryn?

Kathryn is friendly, empathetic, and loves making connections with people. She has a fantastic sense of humor and a big heart. She’s also determined — once she sets her mind on something, she works at it. Even with challenges, she surprises us all the time with what she can accomplish.

Q: What advice would you give to other families at the beginning of their rare disease journey?

Don’t stop looking for answers. Medical science is always advancing — a “no” today might be a “yes” five years from now. Stay open to new testing, ask questions, and take part in research when you can.

And beyond the medical side, focus on opportunities that help your child grow into the fullest version of themselves. Whether it’s academics, job training, or community programs, every skill they gain is a step toward independence. We waited over a decade for a name to put to Kathryn’s condition, but every experience along the way taught us how strong she — and our family — can be.

(Watch this interview with Angie and Kathryn from the 2024 Kleefstra Syndrome North American Family Conference.)