Rare Leader: Leena Panwala, President, INADcure Foundation

The Basics
Name: Leena Panwala

Title: President and cofounder

Organization: INADcure Foundation

Social Media Links:

Disease focus: Infantile neuroaxonal dystrophy (INAD) is an extremely rare, inherited, degenerative disorder of the nervous system characterized by abnormalities of nerve endings within the brain, spinal cord and peripheral nerves. INAD is associated with mutations in the PLA2G6 gene and is part of a spectrum of diseases called PLA2G6-associated neurodegeneration (PLAN). It is further classified as part of a group of disorders called neurodegeneration with brain iron accumulation or NBIA.

According to the NIH, INAD is categorized as a lipid storage disorder that occurs due to the lack of a functioning Phospholipase A2 enzyme. The job of this enzyme is to convert phospholipids into fatty acids. Because this metabolic process doesn’t take place, the result is an accumulation of these phospholipids in the nerve endings called axons. The symptoms of INAD usually start to appear between the ages of 6 months and 2 years. A common pattern in young children is loss of previously acquired skills, mental and physical ability, and progression of the disease over time. Many children experience delayed/difficulty walking, loss of neck control, and low muscle tone in the trunk, which occurs early on. Eventually, muscle tightness and weakness in both arms and legs will follow. Due to the challenges of eating and drinking, children are often put on feeding tubes. Some children experience seizures in early stages, some may experience seizures as the disease progresses. There are about 150 known cases worldwide.

Headquarters: Fairfield, New Jersey

How did you become involved in rare disease: Our first daughter was born in July of 2014. It was a normal, healthy pregnancy, and Ariya came into the world a healthy baby. In fact, the first year of her life we didn’t have any suspicion that something may be wrong. At around 15 months, she started to present with nystagmus, a vision condition in which the eyes make repetitive, uncontrolled movements.  It seemed like it came on almost overnight. That was the first symptom. At that time, she was still able to sit upright. She was still able to crawl. She was able to reach. She was able to feed herself.

Ariya started to lose all of the skills she gained in her first year towards the second year of her life.  She became wobbly, unable to stand or sit unsupported, she never learned to walk. We wondered, did she pick up a virus? She had just started daycare, could it have something to do with school? The journey that led us to a diagnosis was long.  We visited seven specialists within a year. Because it started with the eyes, we started at an ophthalmologist, who recommended that we see a neurologist. The neurologist recommended a geneticist, and then a neuro-ophthalmologist. From there we finally got in touch with a developmental pediatrician, who was convinced there was something bigger going on. She connected us with another geneticist, who did whole exome sequencing on my daughter to see if there was a genetic mutation causing her symptoms. That’s when we got our diagnosis. She was about 26 months when we got her diagnosis and it changed our world.

Previous career: Hotel operator and real estate agent

Education: Bachelor’s degree in political science from Pennsylvania State University

The Organization
Organization’s mission: The INADcure Foundation’s mission is to support the development of treatments, including a cure, for infantile neuroaxonal dystrophy (INAD) and other forms of PLA2G6-related neurodegeneration (PLAN). Our primary focus is on supporting research through facilitating collaboration, identifying the most promising paths and innovations to finding new treatments, and by providing funding when necessary to advance the work.

Organization’s strategy: Very soon into the start of our journey, I realized there was no centralized effort to advance research and raise awareness for INAD.  Initially, I tried to fill those voids by establishing a presence for the INAD community via the INADcure Foundation online. We created a website, and became active on social media to provide families with a place to go to get and share information, and to make the disease more well known. Once that was established, and after we put the Foundation’s infrastructure in place, we began to realize that in order to advance research we needed to bring together the scientists who were working on INAD or who had understanding of the disease. By doing this, we could gain a better understanding of the current state of research into the disease, and the most pressing needs. Our strategy has been to bridge the gaps in the research and build collaboration among the researchers. So much of the work was being done in silos, and information was not being shared. We see our role as one to facilitate communication and encourage collaboration in order to expeditiously and efficiently advance research.

Funding strategy: Like most rare disease organizations, raising funds is one of our greatest challenges. Being that INAD is such a rare disease, it is not well known. Most people don’t know someone with INAD. We are grateful to the INAD community for the work they do to raise funds to support the Foundation’s research initiatives. We have seen local communities show such amazing support and rally behind our INAD families. Families are holding regular fundraisers, and have created their own personal fundraising campaigns to support the Foundation. We also rely on corporate and foundation grants. Most of our gifts come in as a result of a personal connection to the disease. That is why it is so important we continue to raise awareness and provide the tools and resources our community needs to help us with this work. We really are all in this together and couldn’t do any of this without the support from the INAD community.

What’s changing at your organization in the next year: A lot of exciting changes are coming. The INADcure Foundation was recently selected as one of 30 grantees to be part of the Chan Zuckerberg Initiative’s (CZI) Rare As One Project. This comes with many capacity-building opportunities. For example, we are currently in the process of hiring our first, full-time fundraiser/special events coordinator. Through the initiative we will also connect with a scientific advisor who will work closely with us on our research strategy. Finally, we have just begun planning for the first ever scientific conference exclusively focused on advancing INAD research and building collaboration among the scientific, academic and biotech communities.

Management Style
Management philosophy: I’m the kind of person that if I say I’m going to do something, I do it. I hold myself to my word.

Guiding principles for running an effective organization: In order to be effective, you have to have motivation and determination. I find myself very focused on my goals, and my motivation is my daughter and all of the other children living with INAD.

Best way to keep your organization relevant: Stay up to date on the research and science in rare diseases. That’s a good way to stay relevant.

Why do people like working with you: I had my development director answer this one. She said that she likes that I am straightforward and that I make my expectations and visions for the organization clear. She says that I don’t waiver, which makes it easy for her to do her job. We know our priorities and the goals that we are working toward. I don’t micro-manage and I recognize everyone on our team has a job to do and the skills and expertise to do it. She also likes that I don’t waste time on projects that won’t advance our mission and recognizes the work I’m pursuing is pertinent to our mission.

Mentor: My daughter is five-and-a-half. She can no longer sit unassisted. She is immobile. She is not verbal. She is my mentor. Before her diagnosis, I had no experience in this “rare disease world” that I find myself living in now. And I have to admit, it was scary at first, especially not having a medical background. I was forced to jump into this space head-first. Ariya has taught me to think differently about how I approach challenges and problems. Watching her strength and struggles, inspires and motivates me to keep moving forward. I know that there are so many things that are out of my control. However, I also find comfort knowing that I am doing everything I can to help her, and that helps me sleep at night. Ariya has changed our lives completely, and for the better. We are proud of where we are today, and what we have accomplished with the Foundation, and it is all because of her.

On the Job
What inspires you: I’m inspired by seeing science and technology constantly evolving. I see a lot of efforts focusing on trying to treat the root cause of rare diseases.  

What makes you hopeful: The science and the research make me hopeful. Gene therapy, gene editing—those are fairly new technologies. The idea that people affected by rare diseases can potentially have an effective treatment or cure, gives me a lot of hope.

Best organization decision: Putting together a strong, well-rounded scientific and medical advisory board to help us evaluate research projects and strategize was one of the best decisions I made.

Hardest lesson learned: The hardest lesson learned has been that making progress in science takes a long time.

Toughest organization decision: Deciding which research initiatives we should pursue has been the toughest. In the beginning, there weren’t many opportunities to fund INAD specific research. However, now that we are more established and are doing the work getting INAD on people’s radar, we are receiving many more requests to help us advance our research priorities. Unfortunately, we don’t have the funding to support them all. We are grateful to be able to rely on our scientific advisors to help us make these tough decisions.

Biggest missed opportunity: I wish I knew more about biobanks and obtaining induced pluripotent stem cells, and fibroblasts when my daughter was first diagnosed in 2015. I feel like I lost about two years of potential research because that’s about how long it took me to learn about these research cells and how I could get started with collecting samples. I remember reading my first scientific journal article and it mentioned fibroblasts. I had never heard that word before and I’m Googling fibroblast. How the heck do I get a fibroblast? I feel like I lost two years of potential quality research because it took me about that long to figure out how to get research grade cells. Now we have a biobank established and have samples from other families. We’re making some progress.

Like best about the job: I love the fact that I’m learning so much more than I thought I could at this stage of my life. Science was never really something that I was too interested in. But it turns out, it was just that I didn’t have anything to apply it to. Now that I have something to apply it to, it has become part of my life. I feel like a geek now, but I love it. I get excited reading about gene therapy and gene editing, and all of the innovations in the field.

Like least about the job: Everything takes forever. Progress in science takes so long. Playing that waiting game—waiting for researchers to get back to you, waiting for data—I’m not very good at the waiting game.

Pet peeve: You could call me an organizational “enthusiast.” I love being organized and I cannot focus if there is clutter and things are out of place. My mind needs things to be clean before I sit down and just breathe and focus.

First choice for a new career: I really believe that what I am doing now is my purpose in life. I don’t know that I can see myself doing anything else. You could say that finding a cure for INAD is on my bucket list. Making a difference and changing the course of this disease, to help all of the kids who will become affected, is very important to me.

Personal Taste
Most influential book: Lately, I read a lot of scientific articles. Unfortunately, I haven’t a lot of time to read books since my daughter’s diagnosis.

Favorite movie: I like comedies. I enjoy watching things that are lighthearted. Laughter is medicine, and can take one’s mind off of their worries. I can’t watch drama or action movies, those types of movies just stress me out.

Favorite music: I enjoy country.

Favorite food: Mexican

Guilty pleasure: A glass of wine with dessert. I don’t have those opportunities too often.

Favorite way to spend free time: When I do get the rare opportunity to take a break, I enjoy taking long walks and spending time outdoors.