RARE Daily

Rare Leader: Kim Tuminello, Co-Founder, Assocation for Creatine Deficiencies

November 14, 2019

The Basics
Name: Kim Tuminello

Title: Co-founder and Director of Advocacy

Organization: Association for Creatine Deficiencies

Social Media Links:

Disease focus: Cerebral creatine deficiency syndromes (CCDS) are a group of inborn errors of creatine metabolism including AGAT, CTD, and GAMT. Symptoms may include intellectual delays, expressive speech and language delay, autistic-like behavior, hyperactivity, seizures, projectile vomiting in infancy, failure to thrive, and movement disorders. Creatine helps supply energy to all cells in the body. It helps increase adenosine triphosphate (ATP). Creatine is produced in the liver, which makes it out of three amino acids: arginine, glycine and methionine.

Headquarters: Carlsbad, California

How did you become involved in rare disease: My son was diagnosed with an ultra-rare metabolic disorder when he was ten months old, and it is treatable.  I couldn’t understand why this had not been on the state’s newborn screening. Although he was one of the first cases of Guanidinoacetate Methyltransferase Deficiency (GAMT) to be diagnosed in the world, it’s a severe neurological disorder that if not treated causes severe setbacks, and yet it wasn’t being screened. There were not any support groups.  It was over three years before I ever talked to another family with a child with GAMT, and I had been actively looking.

Previous career: Previously worked in sales management and human resources.

Education: B.A. in Advertising from San Diego State University

The Organization
Organization’s mission: We’re focused on disease awareness, education, and driving research.  We’re working hard to find a treatment or cure for creatine transporter deficiency, and also provide patient support for our AGAT and GAMT families, which are both treatable.  Although treatment is successful if started early in life, we help those that were not as fortunate to have been diagnosed soon after birth.  Our search for a better treatment or cure for GAMT and AGAT is also coupled with advocating for newborn screening.

Organization’s strategy:  As we’ve grown, we have changed strategies and goals from focusing on educating clinicians, researchers, and the pharmaceutical industry on how to look for, diagnose and treat creatine deficiencies, to driving research, creating a registry, data sharing, and creating new relationships and partnerships in support of our many programs. We’re a foundation that prides itself on earning our community’s trust. We are a diverse group that is spread all over the world, but we share a common life of raising these children. The ACD provides that platform for communication and education to parents and caregivers.  Our Board of Trustees are all parents of children with a CCDS, whose genuine interests lie in helping others and we have utilized our own professional backgrounds to grow the organization,

Funding strategy: We rely on grants, our community members’ personal fundraisers, corporate matches, and fundraising both online and annual fundraisers, such as Holiday Heroes, Walk for Strength, Giving Tuesday, and CCDS Day (February 1).  

What’s changing at your organization in the next year:  We are working to help fund the first CCDS gene therapy.

Management Style
Management philosophy: To embrace others strengths. We will promote from within, and always encourage employees to reach new goals.

Guiding principles for running an effective organization: We take into consideration what is important to our community.  We know that they have entrusted us to represent the community and their needs as a whole.

Best way to keep your organization relevant: Continue to stay focused on our mission.  

Why do people like working with you: We get it done. We are on a mission to save our children and it shows in the quality of our work. We don’t try to recreate the wheel. We look to those who have been successful in building nonprofit organizations, and try to learn from other’s mistakes. 

Mentor: My dad, who ran a successful financial consulting company for 58 years.  He taught me the virtue of a strong work ethic, along with honesty and integrity.  

On the Job
What inspires you:  The kids.  I get up every day and try to make a difference for someone out there. There are parents out there that are desperately searching for answers on what is happening with their children, and these children are in desperate need of those answers, now.  

What makes you hopeful:  Research and genetic testing!  So much has changed since my son was first diagnosed.  Getting a diagnosis for a rare disease used to take an average of seven years, but with the availability of testing, patients are able to take a proactive approach in their own diagnostic odyssey.  

Best organization decision: We embrace our growth, but needed to take some calculated risks.  Hiring employees to help get it done has been big for us.

Hardest lesson learned: Understanding how much time it takes to accomplish these large goals. 

Toughest organization decision: Where to put our money. When you are small, you want to make as big an impact as possible with as little as possible. We spend a lot of time discussing our finances, how much we need to hit our next goal, and strategizing on how we’re going to do it.

Biggest missed opportunity: We probably should have hired a full time staff sooner.

Like best about the job:  I feel like we are really making a difference. There’s a real sense of community here, and I love the people that are involved in the rare disease community…they have so much heart.

Like least about the job: Being away from my own family.

Pet peeve: Critical people that don’t contribute.

First choice for a new career: I would be doing exactly what I’m doing now.  I’d like to spend more time in my position advocating for more newborn screening both here in the U.S., and abroad. There are 350 treatable rare disorders, and the fact that not all of them are on newborn screening is in my opinion, criminal.

Personal Taste
Most influential book: Chasing My Cure: A Doctor’s Race to Turn Hope into Action; A Memoir by David Fajgenbaum

Favorite movie: Wonder                                            

Favorite music: I love just about all types of music, but listen now mostly to country –it’s kid friendly!  

Favorite food: Mexican and sushi

Guilty pleasure: Pool time

Favorite way to spend free time: At the beach or in the mountains with family and friends.

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