RARE Daily

Rare Leader: Allison Kaczenski, Founder and President, SATB2 Gene Foundation

December 24, 2020

The Basics
Name: Allison Kaczenski

Title: Founder and president

Organization: SATB2 Gene Foundation

Social Media Links:

Disease focus: SATB2-associated syndrome (aka Glass Syndrome) is caused by alterations of the SATB2 gene located on chromosome 2q33.1, and is a neurodevelopmental disorder. SAS affects the individuals through global developmental delays.  Most significant is the absence of speech, or significantly delayed/affected speech.  We often see palate abnormalities—including cleft palate or high arched palate.  Other key characteristics of SAS are dental issues—missing adult teeth and/or oversized front teeth; low bone density, and behavioral issues. We are seeing a growing number of our patients with seizures and sleep difficulties. 

Headquarters:  Lilburn, Georgia

How did you become involved in rare disease: My daughter Katelyn is 6 years old now. We got her diagnosis when she was eight days old and I just got thrust into it right from the beginning of her life. I didn’t know anything about the rare disease community when we got her diagnosis. There was one case study out there. There was only one paper. We were told she was one of 20 in the world and just told, “Good luck.” We spent the first two years drifting. My daughter had severe feeding issues due to her cleft palate. Then when she was almost 2 years old, I got a phone call from Emory University where we were seeing the genetics team and they said, “We’ve got this researcher at Arkansas Children’s Hospital and he’s starting a registry on SATB-associated syndrome. That’s when I started learning about the rare community.

Previous career: Fundraiser for various nonprofits

Education: B.A. in arts management from College of Charleston

The Organization
Organization’s mandate: Our mission is to enrich the lives of individuals with SATB2-associated syndrome, including those diagnosed with the condition and their families, through support, research, and education.

Organization’s strategy: Our strategy is three-pronged. We raise awareness about the characteristics of SATB2. We provide support to our families through our family conference, webinars, and now Zoom meetings, produce different materials for our families to be able to take to their clinicians, as well as offer travel grants. And then our third prong is supporting research in a wide range of issues related to SATB2. We have just awarded the second year of our grant research program.

Funding strategy: We launched at the end of 2017. We rely a lot on peer-to-peer fundraising. Our SATB2 families are great and they have amazing networks of friends and families who want to help support them and their children. We do a lot of fundraising around our annual awareness day, which is on August 22. We chose that day to honor our primary researcher, Dr. Yuri Zarate. He’s with Arkansas Children’s Hospital and that’s his birthday. We’ve had recent success with securing grants and we’re hoping to continue to grow our grant program as well.

What’s changing at your organization in the next year: This year has changed so much with the closures. Because of closures to the labs, are stem cells have been delayed, but now we should be getting them here in the next month or two months. I see that in 2021, with us being able to push out our stem cells and make them available to researchers around the world, we’re hoping to gain a lot more knowledge and research. We’ll be focusing a lot on growing our medical community and formalizing a research strategy to support those already doing research, but also to bring new researchers into our group. With the continued uncertainty of COVID and travel, I think we’ve adapted well this year. Hopefully, soon we’ll be able to get back together in person, but we’ll be creating more hybrid events. A lot more of our families would be able to participate in a one-day conference if travel is not reasonable for them or if they’re on the other side of the of the world. I see us being able to focus on making our programming accessible.

Management Style
Management philosophy: Motivating people to get involved and helping them find a passion and find a way to take that passion and help the foundation and/or the SATB2 community. We’re all volunteers, so I try not to ask too much of one person and keep everybody engaged and not burned out.

Guiding principles for running an effective organization: It’s always keeping our mission and our families at the forefront of all of our decisions and programming. Secondly, it’s always being a good steward of our funds and our donors, keeping that at the forefront, and making sure that the decisions we’re making are decisions that our families and donors want. And then also making sure that we’re bringing more people to the table to have a voice.

Best way to keep your organization relevant: It’s always good to be nimble, to be able to change, if priorities change within the community. This year supporting our families was a big focus because of financial hardships. The great thing about us is being able to be nimble and address the needs as they arise. I also try to keep us relevant by making sure we’re posting regularly on social media and that we’re showing all these different sides of our organization and our families and keeping the communication, between our families, donors, and medical community open.

Why people like working with you: Anyone who knows me knows I’m passionate about the SATB2 Gene Foundation. And that I am very passionate about SATB2-associated syndrome and bringing awareness to this. I’m a hard worker. I will do what I say. And I’m open to ideas and suggestions.

Mentor: I had two amazing bosses at previous jobs. One was Kevin Smyrl with Emory University who taught me to think outside the box to approach decisions in different ways and then come to the best decision. Another mentor I had was Heather Greene, who I worked with at Special Olympics Georgia. She taught me about how to get more people involved and put ownership into other people’s hands, as well to not carry the burden of everything that we do. Those two have had a large influence on my professional life. There are many amazing leaders of rare organizations that I’ve met along this journey. I love that we share so much. There’s too many in the rare community to name and I wouldn’t want to leave anybody out.

On the Job
What inspires you: When I hear from our families and they say what a difference it is having the Foundation to provide resources, feel connected with others, or just say “Thank you. We see how hard you’re working.”  I love hearing from a brand new family, somebody who just got the diagnosis saying, “I just hung up the phone with my doctor and I found you. Tell me everything I need.” Things like that just inspire me because I didn’t have that for the first two plus years of my daughter’s life.  There was no support system for my husband and me.  Knowing that I’m able to help other people keeps me going.

What makes you hopeful: It goes along with what inspires me.  It makes me hopeful to know that we’re helping people, and that we’re putting resources together that our families and clinicians are in need of.  I’m also hopeful knowing how dedicated our researchers are to our community and hearing from new medical professionals that are interested in learning more about SATB2-associated syndrome.  I think that there are big things coming for our community sooner rather than later. 

Best organization decision: Pulling the trigger to start. Having the confidence to get going. At the time there were 50 families when I started doing the research. I was saying that we’re not too small. We can do this.

Hardest lesson learned: The hardest lesson learned is that I can’t do it all. Asking for help is sometimes hard for me. I feel like I’m carrying the weight of the organization. COVID and the closures and everything helped me learn that I can’t do it all and that there are a lot of people who are ready to step up and get more involved.

Toughest organization decision: It would have to go back to earlier this year. There was so much uncertainty with COVID and at the time it was tough to make the decision to postpone our July 2020 conference. We postponed it early in the pandemic. That was a hard decision as a board. We all felt very conflicted, but I didn’t want to wait till the last minute to make that decision. Obviously now in hindsight, it was the right decision.

Biggest missed opportunity: Not starting sooner.

Like best about the job: Knowing that I’m helping. Knowing that there are families and doctors out there who are finding us. They are finding our resources. They are finding our family stories and can relate. It’s an amazing feeling when I get an email from a medical professional who might be in the Netherlands saying, “I’ve got this child under my care and I need to understand more about the syndrome. What can you tell me?” That’s neat to now know that I’m the first person who people are reaching out to.

Like least about the job: That I can’t do it all. I wish I had more time in the day. I put a lot of pressure on myself to do things and I wish I had more time in the day. Sometimes having to say “no” to certain projects or programs is hard for me, because I so passionately want to help everybody do it all.

peeve: People who cancel at the last minute.

First choice for a new career: I’d be a travel editor and tour the world.

Personal Taste
Most influential book: I enjoy books where I can get my mind off the day-to-day. I enjoy the author Mary Kay Andrews.

Favorite movie: Wizard of Oz

Favorite music
: My husband and I are into collecting vinyl records. We have an older record player and just love listing to anything on vinyl, like classic rock from The Beatles to Queen to Tom Petty and Elton John.

Favorite food: Tacos or pizza

Guilty pleasure: Eating too much dark chocolate. I have it hidden in my pantry away from everyone.

Favorite way to spend free time: I love spending time with my family, sewing, playing with our new puppy and decorating my house.

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