Rare Leader: Karen Utley, President and Co-Founder, IFCR

The Basics
Name: Karen Utley

Title: President and co-founder

Organization: International Foundation for CDKL5 Research (IFCR)

Social Media Links:

Disease focus: CDKL5 deficiency disorder is a rare neurodevelopmental disease caused by mutations in the CDKL5 gene which can manifest in a broad range of clinical symptoms and severity, though the hallmarks are early-onset, intractable epilepsy and neurodevelopmental delay impacting cognitive, motor, speech and visual function. Although rare, the occurrence is believed to be approximately one in 40,000 to 60,000 live births, making it one of the most common forms of genetic epilepsy.

Headquarters: Wadsworth, Ohio

How did you become involved in rare disease: In January of 2008, I requested a genetic test for CDKL5 disorder for my daughter and she was diagnosed in July. When she was diagnosed, no one knew anything about this rare disease. I found a small Yahoo! support group, and I think there were 10 to 15 families when I joined. Realizing the need to provide family support, fund research, and raise awareness, seven of us from around the world combined efforts and started this foundation.

Previous career: Bookkeeping for a family business.

Education: High school graduate, currently pursuing a bachelor of science in nursing.

The Organization
Organization’s mission: To treat and cure CDKL5 deficiency disorder by funding scientific research, while helping affected individuals and their families to thrive. The IFCR is committed to funding research, both scientific and clinical, that will bring about treatments and, ultimately, a cure for CDKL5. We strive to raise awareness of this rare disorder within the medical and lay communities. Above all, we seek to support all CDKL5 families and caregivers, whether newly diagnosed or well into adulthood, by providing the most current information on treatment, advances, and how to live their best life possible. We have begun to focus on our clinical centers of excellence and establishing experts in the field with statistically-based standards of care.

Organization’s strategy: We are passionate about clinical standards of care and work to maintain and expand our established multidisciplinary CDKL5 Centers of Excellence. Through these centers we create clinical experts, while capturing the natural history of CDKL5 via clinical data, to bring evidence to standards of care and outcome measures for trial success. We have a diverse scientific advisory board who vets our bench and bedside proposals, so we are sure we fund projects that will efficiently move science forward toward treatments. We target translational science that will help our loved ones in the shortest time possible. We also conduct campaigns to create public awareness.

Funding strategy: The majority of our funding comes from individual donors and families hosting fundraisers. We have a large quantity of small donors who are introduced to us by families who have been affected. We tell our families, if you need to fundraise for your family for medical bills and unmet needs for your loved one, do that first. If you want to fundraise for us, that’s wonderful. We support those efforts and emphasize it doesn’t matter how small. Every bit helps and every dollar is appreciated. We work hard to put those dollars to work and not to waste them. In 2018 we hired a science director and that is the first paid employee we have.

What’s changing at your organization in the next year: One thing that’s changing is that we are moving more resources from basic to clinical science. By adding additional centers of excellence, we are able to provide more clinical care access to our families while also increasing the patient data collected to better understand the natural history of CDKL5 Deficiency Disorder.

Management Style
Management philosophy: We welcome volunteers and we do not micromanage. We let each person figure out what their talent is, where they think they will serve us best, and let them do what they are capable of doing. We want them to feel empowered by whatever strengths and talents they have to offer.

Guiding principles for running an effective organization: Providing a safe environment for everyone one to share their ideas to ensure their voice is heard, treating everyone with respect and dignity, while listening to the needs of our community are our guiding principles.  

Best way to keep your organization relevant:  By meeting the needs of our rare community, focusing on advocacy, and providing opportunities for those affected to access the care that they need while not losing sight of our mission will keep the organization relevant.

Why people like working with you: I’m non-judgmental and I’m easy to talk to. I’m always ready for new ideas and to do what I can to support someone else in their goals.

Mentor: When we started our organization, Paige Nues with Rettsyndrome.org. took us under her wing. She talked openly with us about their organizational structure and helped us learn appropriate processes for guiding a science program. In addition to this, she shared challenges their organization had faced in hopes to prevent our organization from facing these same issues. We benefited greatly from their maturity as a nonprofit. Because of the support we received from Rettsyndrome.org, we always make time to talk to young organizations. We feel it’s important for us to pay that forward to the rare community.

On the Job
What inspires you: Our kids inspire me.

What makes you hopeful: What makes me hopeful are the advances in science. They are exciting. There are so many things that have happened in the 10 years that I’ve been in the rare disease world that I’m shocked myself. Also, the willingness for people to help. You can share your story with people who have no connection and they are moved by it. I believe our kids change people.

Best organization decision: Our best decision was to begin the organization. There was nothing known about this rare disorder. Now, because of our work, there have been numerous publications from the database we helped start, there are six established Centers of Excellence (and more on the horizon) to provide multidisciplinary care and develop statistically based best practice guidelines, and no caregiver has to be alone on this journey.

Hardest lesson learned: The hardest lesson for me has been how slow science is.

Toughest organization decision: The toughest decision was to hire a science director. That was scary for all of us. At the time, we didn’t have a set expense that we knew we were going to have to meet. To hire a position where you knew you were going to have to meet the salary commitment was tough, but it has been a great investment.

Biggest missed opportunity: We have not been very good at public relations and telling people what we are doing. We are making efforts to improve in this area.

Like best about the job: My favorite part of the job is talking to newly diagnosed families and sharing our story. Being able to give encouragement and support to those that are in the early stages of facing this is important to me.

Like least about the job: The politics of science.

Pet peeve: People who don’t take responsibility for their actions is my pet peeve. Everybody can make mistakes, but we should all own what we do and move on.

First choice for a new career: I am actually in the process of choosing a new career. I am in nursing school, and I want to eventually be involved in clinical research.

Personal Taste
Most influential book: The Bible

Favorite movie:  Gone with the Wind

Favorite music: Country

Favorite food: Mexican

Guilty pleasure: Chocolate