Rare Leader: Carrie Ostrea, Executive Director of NGLY1.Org

The Basics
Name: Carrie Ostrea

Title: Executive Director

Organization: NGLY1.org

Disease focus: N-glycanase deficiency, or NGLY1 deficiency, is an extremely rare genetic disorder in which both copies of a patient’s NGLY1 gene contain mutations. It is a progressive condition, and no cure is currently available. This gene holds the information the body needs to synthesize the enzyme N-glycanase. NGLY1 patients produce little or no N-glycanase because of their mutation. N-glycanase is responsible for a certain recycling processes in the cell called de-glycosylation, which means cutting off sugars from proteins. NGLY1 patients have an impaired capacity to carry out this important process. The condition causes a variety of symptoms including global developmental delays, seizures, abnormal EEGs, movement disorder, diminished reflexes, disturbed sleep patterns, liver dysfunction and other manifestations.

Headquarters: Salt Lake City

How did you become involved in rare disease: When my daughter Hannah was born in 2008, we only had one good non-medical day with her. She had an enlarged spleen and low platelets. They brought her into the NICU and couldn’t figure out what was going on. Tests came back and identified her as a carrier for Gaucher disease, so instead they thought she might have Niemann Pick disease. My husband went on Google and entered her symptoms and Gaucher disease was the number one result, so we asked them to genetically test not only Niemann Pick, but Gaucher disease as well.  Hannah turned out to have new mutation for Gaucher disease that hadn’t been seen before. They didn’t give us any options and only said, “She won’t live past her first year so just take her home and love her.” That’s when my husband and I became parents on a mission.

Previous career: I had a successful online wedding business for over a decade.  Because I wanted to be able to spend more time with my kids, I changed directions and started classes to get credentialed as a special needs elementary school teacher.  I was just 8 weeks shy of finishing my courses when I developed complications in my pregnancy with Hannah.

Education: B.S. in Business Administration and Marketing from California State University Stanislaus. Currently enrolled in MBA in Healthcare Administration program at Western Governors University.

The Organization
Organization’s mandate: Research, support, and awareness for families with NGLY1. We want to do everything possible to find a treatment for these children affected by NGLY1 and give their families hope.

Organization’s strategy: Unique collaborations and innovative partnerships. For example, we have an innovative partnership with the National Center for Advancing Translational Sciences and Retrophin. It’s a three-way partnership between industry, a patient group, and NIH. It is the first time that all three groups worked together closely to screen for possible treatments for NGLY1.

Funding strategy: We’re donor and industry supported.

What’s changing at your organization in the next year: The NCATS project is huge as it gives us a chance to focus on translational research as well as work with other researchers on various scientific pathways.  We also are developing and strengthening our family support programs by providing more educational opportunities.

Management Style
Management philosophy: I’ve very much a policy and procedure kind of person. I believe when you have the foundation set and everybody knows their roles and responsibilities, it’s easier to move in a direction and take on new projects.

Guiding principles for running an effective organization: Patient support first. Regardless if you are research focused, legislative focused, or healthcare education focused, you always have to do what’s in the interest of the patient community because they are the ones relying on you to give them hope.

Best way to keep your organization relevant: Be transparent. Learn what other groups in your same and similar disease groups are doing.  I’m very much a collaborative type of person because there’s so much work to do and only so much capacity to do it.  Whether the group is focused on similar research pathways or similar symptomatology, there is so much to learn from each other when you work together with other groups.

Why people like working for you: One of my biggest strengths is being able to support and educate people on best practices in nonprofit organization strengthening and program development. Education and empowerment is the key to having any kind of success in this community.

Mentor: Jean Campbell of JF Campbell Consultants, in terms of the non-profit side of things. From the very beginning, she was always available to answer my complex questions about the rare disease space. She’s got a good heart. Another strong mentor has been Chris Hempel, mom of Addi and Cassi Hempel, twins with Niemann-Pick type C. She’s the one who took me on when we thought it was Niemann-Pick. She taught me how to be a mom on a mission by teaching me how to look for and reach out to researchers, understanding medical processes, and how to find my way into becoming a source of support for our Gaucher disease community. She guided me on being the super advocate I wanted to become. I owe her so much. Everything she’s taught me I’ve paid it forward to other advocates, so her legacy lives on.

On the Job
What inspires you: Making a difference in the lives of kids with rare diseases. Because I couldn’t save Hannah, I wanted to have her life make a difference in other kids lives. That‘s really why I do what I do.

What makes you hopeful: People in this community who are so passionate about what they want to get done and what they are able to accomplish. We are starting to see tremendous successes in recent years.  These may be few and far between today, but momentum in the rare disease advocacy community is moving in the right direction and we will see even more successes in the next few years. 

Best organization decision: Our decision to focus not only on research, but patients in the community as well. Not only are we here to help the patients, but we want them to feel empowered to help each other as well.

Hardest lesson learned: Advocates are so well intentioned, but sometimes their good intentions are not able to translate into actionable steps.  Passion can help create a nonprofit organization, but it cannot sustain it without a good business structure.  Sometimes advocates need to take a step back, and really think about a strong strategy for what they want to accomplish for their community. 

Toughest organization decision: Not being able to fund all the good ideas that may come to us because of the reality and limitation of funding. Nevertheless, it’s important to keep those relationships with those people you don’t fund because in the future you may be able to support them somehow.

Biggest missed opportunity: NGLY1 Deficiency as a community is growing faster than most other rare diseases. Trying to be able to keep up with all of the opportunities has been a challenge. It’s something we will always continue to work towards accomplishing.

Like best about the job: Being an active member of our rare disease community and getting the opportunity to actively work to help save a child. That’s the whole reason I do this.  

Like least about the job: The hardest thing for me is when we lose children to their rare disease. When you are in this community for so long and work closely with families of children with a life-limiting rare disease, death is many times part of the journey, but it doesn’t make it any easier. There’s a wall that you put up trying not to get too emotionally attached to these kids while doing this kind of work, but it’s hard. Families are relying on you and you want to see success for them.

Pet peeve: Lack of healthcare providers willing to take time to talk to families who are newly diagnosed.

First choice for a new career: Theater director

Personal Taste
Most influential book: Myth of Multitasking: How “Doing It All” Gets Nothing Done by Dave Capshaw.

Favorite movie:  Not a movie, but the play Hamilton.

Favorite music: Pop – Bruno Mars or Maroon 5

Favorite food: Chocolate, of course

Guilty pleasure: Binge watching Netflix shows

Favorite way to spend free time: Hanging out with my teenagers.

February 15, 2018
Photo: Carrie Ostrea