Rare Leader: Kimberly Ventarola, Co-Founder and President, Malan Syndrome Foundation

The Basics
Name: Kimberly Ventarola

Title: Co-founder and president

Organization:  Malan Syndrome Foundation

Social Media Links:

Disease focus:  Malan syndrome is a rare genetic neurodevelopmental and overgrowth disorder caused by a change in the Nuclear Factor One X (NFIX) gene. The NFIX gene is located on the short arm (called “p”) of chromosome 19 at position 13.2. Malan syndrome is characterized by overgrowth, intellectual disability, vision and/or hearing impairment, skeletal anomalies, cardiovascular issues, epilepsy, and anxiety.

Headquarters: Old Bridge, New Jersey

How did you become involved in rare disease: I became involved in 2017 when my youngest son was diagnosed with Malan syndrome. I immediately wanted to know everything, and anything there was to know about the rare disease world. I was always an advocate for special education but being on the other side of the diagnosis was a big game changer and really pushed me in ways I never thought possible.

Previous career: I am a special education teacher.

Education: Bachelor of Science degree in sociology from City University of New York – College of Staten Island, Master of Science degree in general and special education—birth to second grade.

The Organization
Organization’s mandate: The mission of the Malan Syndrome Foundation is to improve the lives of individuals and families affected by Malan syndrome in the global community through support, outreach, and research. 

Organization’s strategy: We are a small board, but our strategy is to use every bit of our time, energy and every dollar raised for community support and research programs. We are currently growing our board and are excited to add new members to our team. We think of ourselves as the bridge between the patients, the doctors, and the researchers.  

Funding strategy: This is tough one. We are still a new organization, just over 3 years old.  We are trying to broaden our supporters and will begin applying for more grants. Our biggest supporters at the moment are friends and family of those affected by Malan syndrome.

What’s changing at your organization in the next year: We are in the process of growing our board to include international members as well as adding a parent advisory board. We are also in the beginning stages of planning our first Family and Scientific Conference for 2022, since we had to cancel 2020’s due to COVID. This will be a tremendous deal for our community as for most it will be the first time affected families meet other families with Malan syndrome. Our Foundation is looking to establish a biorepository to provide scientists from around the world with high quality bio samples to extend their research capabilities.

Management Style
Management philosophy: This is a good question. Personally, I have learned how different we all are. We all learn differently, work differently and cope differently. I like to adapt my management to who I am working with. We all work in our own way. I am a very visual learner and I like agendas and schedules. I think everyone has something great to bring to the table and I am always eager to hear new ideas and perspectives.

Guiding principles for running an effective organization: Communication and community input is key! We strive on listening to our community and families and being open minded.

Best way to keep your organization relevant: I think the best way to keep our foundation relevant is to listen to our community, the research and the rare disease world, and to keep evolving. We will always stay true to our mission, but we also pride ourselves in adapting to anything that is thrown our way. We are all learning together especially our board. We truly have an amazing team approach and bounce ideas off each other until they transform into our next big campaign.

Why people like working with you: I am open minded and a people pleaser. When I get an idea in my head it is hard to turn off and I will not stop until it is perfect. I believe in people and know that if you put your mind to something you can accomplish it.

Mentor: I would say that I have many mentors, first being my parents. They have never questioned anything I have ever wanted to do and have only pushed me to be the best I can be throughout my whole life. My husband, who allows me to dedicate countless hours to the foundation and research without hesitation. And for anyone who runs a growing rare disease organization understands how consuming it truly is. My fellow co-founders who have also dedicated their lives and free time to create this incredible organization alongside me. Lastly, my village, comprised of some of the best friends and family anyone can ask for. Having a child with a rare disease just takes life as you knew it and spins it in a whole new direction. I am beyond grateful for all the people who remained in my life and who I met along this journey who always believed in me.

On the Job
What inspires you: My children inspire me. I have made it my mission to do anything in my power to keep them safe, happy, and as healthy as can be. I am also inspired daily by all individuals in the rare disease world. It seems like such a small space, but it is a bigger space than we know and filled with some of the most influential and inspiring people I have ever met.

What makes you hopeful: The ever-changing world of science and technology. Just from the time that my son was diagnosed so much has changed. We struggled to get a doctor to listen to us and to get genetic testing done just 4 years ago. I am hopeful for earlier diagnosis, more awareness and to one day be able to offer therapeutic treatments for those living with Malan syndrome. I am hopeful that all those affected by Malan syndrome will live their fullest and happiest lives.

Best organization decision: Creating the organization itself. We were just four moms who met on a Facebook support group who all wanted to create more resources, awareness, and support for others going through the same thing. We literally put blood, sweat, and tears and our own funds into starting our baby. To say this was the best decision made is an understatement in just three short years we have funded four research projects and creating valuable resources for our families. There is no stopping us now.

Hardest lesson learned: You cannot make everyone happy. I think this was one of the hardest pills for me to swallow. I am extremely sensitive and really wear my heart on my sleeve. I always have the best intentions and I have had to come to terms with this rather quickly especially running an international rare disease patient organization.

Toughest organization decision: The toughest decision so far, I would say, was having to cancel our first Family and Scientific Engagement conference due to COVID. Of course, it was out of our control, but we were so excited to all come together after a year of hard work and planning. I also think that day to day decisions can be tough, we always try to make sure we consider all angles of our decisions.

Biggest missed opportunity: I don’t believe I have any.

Like best about the job:  I love being able to make a difference and help our community in the ways that I wish someone could have helped our family.

Like least about the job: I guess that it is endless and thankless. Of course, I would never expect a thank you for every single thing we do but like I said before you cannot make everyone happy. It is tough to be criticized as a board when we are just moms trying to make a difference for not just our children, but all children and adults affected by this ultra-rare disease.

Pet peeve: Ignorance and closemindedness. If you don’t know something or understand it, all I ask is that you think before you speak. We are all different and we need to respect our differences and learn from each other.

First choice for a new career:  Nothing comes to my mind. Ever since I was a little girl, I dreamed of being a teacher and helping others. I was always able to see the ability in every individual I met and knew I could make a difference one day. This new chapter of co-founding a rare disease foundation was something I did not see in the future, but I am honored and humbled to stand beside my peers in the rare disease world advocating for those who cannot.

Personal Taste
Most influential book:  I am not an avid reader these days, as I tend to read more medical publications and articles than anything, but Little Women by Louisa May Alcott will always be a book that comes to mind.

Favorite movie: The Notebook. I am a sucker for a good love story.

Favorite music: Freestyle

Favorite food: Macaroni

Guilty pleasure: Hot fudge sundaes

Favorite way to spend free time: With my family