From Clinic Visit to Crucial Research: Our Experience at the Kleefstra Clinic and Natural History Study
My daughter, Adelind (12), who has Kleefstra syndrome (KS), and I recently traveled to Boston Children’s Hospital (BCH) in September. Like many of you, we went for an important clinic visit, but we also took a vital next step: we participated in the Kleefstra Syndrome Natural History Study.
This study, funded with support from IDefine and BCH, is critical. It’s creating a detailed roadmap of how KS progresses, which is essential for understanding the disorder and, eventually, testing new treatments. Our mission is to share our experience to encourage more KS families to join this effort.
What to Expect: The Natural History Study Schedule
The study components are designed to be thorough but manageable, typically taking place over two half-days. It was a structured and low-stress experience, and the research team was incredibly welcoming and supportive.
Before the trip, I completed several detailed questionnaires as part of the Parent Packet. Getting this done beforehand was a great way to prepare. I also connected with another KS mom, Maria Lockwood, who traveled to Boston with her daughter Wynne (8) to find out about their experience participating in the study.
Here’s a breakdown of what the study visit was like:
| Day | Component | Description |
| Day 1 | Neurobehavioral Assessments | This was the longest component, taking about three and a half hours. It involves a series of assessments, activities, and observations to measure developmental, cognitive, and behavioral skills. |
| Both Days | Research Team Experience | From the first email, Meg Quinn (who met us in the lobby both mornings) was incredibly warm and welcoming. Maria Lockwood shared that everyone was very sweet and engaging with her child. |
| Day 2 | EEG Visit | A straightforward visit to complete an Electroencephalogram (EEG), which measures brain activity. |
| Study Component | Biometric Data Collection | The study includes collecting key physical and biological data. For example, Wynne and Adelind completed photos of her hands and face, and also wore a Fitbit at home to track sleep cycles as part of the study. |
| Day 2 | Clinic Visit with Dr. Sid | If you can get the dates to align for your trip, you can add-on a standard, insurance-billed appointment with the Kleefstra Clinic team, like Dr. Sid. Note this is not part of the natural history study. |
| Day 2 | Research Q&A | Following the clinic, we spent some time with the research team, like Dr. Cagri, who covered any remaining questions about the natural history study. This time is covered by the research. |
| Day 2 | Blood Draw | The final step, completing a simple blood draw needed for the study’s data. |
We all agreed that the schedule was well-organized, with breaks built in. Knowing that every minute was contributing to a better future for our kids and the entire KS community made it all worthwhile.
Making it a Getaway: Our Boston Highlights
While the study is the main purpose, a trip to Boston is also a great chance to enjoy a little family adventure. 
Adelind and I were able to stay in an affordable and comfortable studio apartment through the Patient Housing Program at BCH. This was a huge help! It included a kitchen, and a free shuttle bus made getting to the hospital easy. The program also gave us complimentary movie and Aquarium passes. We made sure to take advantage of them, riding the “T” to the wharf for dinner outside on the water and treating ourselves to yummy ice cream at Van Leeuwen’s.
Maria Lockwood and her daughter Wynne made their trip a true girls’ getaway, exploring the Brookline Station neighborhood, catching street performers, and visiting famous Fenway Park and the Boston Aquarium.
Your Part in the Future
Participating in the Natural History Study is arguably the most impactful way you can currently support the entire Kleefstra Syndrome community. It doesn’t involve any experimental medications—it’s simply helping to define and understand the journey of KS.
KS Mom Maria Lockwood perfectly sums up the spirit of why we traveled:
“Wynne was a trooper. She was nervous but wanted to participate to help her KS brothers and sisters. We are ready and grateful for any opportunity we have to contribute to our knowledge base in the KS community. Not only to work towards a cure, but to allow providers to understand, manage symptoms, and more accurately diagnose Kleefstra Syndrome.”
The study needs more families like ours to sign up to ensure the data is complete and accurate. If you’re considering it, I strongly encourage you to take this step. The team at BCH and IDefine is there to support you every step of the way, and, importantly, families who participate in the study are eligible for reimbursement of up to $500 in travel expenses! This financial support helps make the trip possible for many. By participating, you are giving an invaluable gift to the research efforts that will one day bring about meaningful treatments.
Interested in learning more or signing up for the Kleefstra Syndrome Natural History Study? Learn more here.
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