Name: Sandra Bedrosian-Sermone
Title: Founder and president
Social Media Links:
Disease focus: ADNP syndrome, also known as Helsmoortel-Van Der Aa syndrome (HVDAS), is a complex neuro-developmental, genetic disorder caused by a change (mutation or partial deletion) in the ADNP gene. ADNP syndrome can affect the neurological, cardiovascular, endocrine, immune, musculoskeletal and gastrointestinal systems, as well as muscle tone, vision, hearing, growth, feeding, and sleep. Developmentally, it can cause delays in intelligence, delayed development of speech, speech apraxia, or absent speech, and global motor planning delays, (including gross motor, fine motor and oral motor). It causes development disorders, such as autism spectrum disorder in a substantial proportion of cases, and is one of the most frequent ASD-associated genes known to date.
Headquarters: Brush Prairie, Washington
How did you become involved in rare disease: I became involved when my son was diagnosed with a mutation on his ADNP gene in 2014. Back then, he was one of the first children in the world diagnosed and there was really no information that existed. There was only one, a single 10-page paper that existed. No one knew anything about it. It had no name, no information, no doctor. We were at Duke University and they basically said that it was extremely rare. He was the first case diagnosed following the discovery. They could find no doctors or specialists who knew anything about it, and no other information. It has no name, there is no medical protocol, no support group, no informational website, no treatments, and no cure. They basically handed me a piece of paper with an ultra-rare genetic mutation on it and sent me on my merry way. It became extremely isolating so I immediately started researching ADNP and other similar rare disorders and wound up finding Global Genes, NORD and other rare community groups, and I realized that RARE was what I needed to get involved with.
Previous career: Stay at home mom
Education: Although I am only a high school graduate, I have done massive amounts of research, co-authored five medical publications, and even discovered the first unique physical diagnostic biomarker for ADNP. When people ask me where I went to school, I tell them that I went to the “Google School of Medicine.” The phrase I coined for myself, and parents like me, is that we do not have M.D.s or Ph.D.s behind our name, we have “GePs,”which stands for “Google Educated Parent Scientist.”
Organization’s mission: To advance the awareness and understanding of ADNP syndrome, support research, and advance treatment discovery for drug development. We are trying to create a better understanding of the syndrome and medical protocols, as well as educating and advocating for families and helping individuals with ADNP realize their full potential and have a better quality of life.
Organization’s strategy: Our main strategy is to find interested researchers, academics, and industry stakeholders and collaborate with them. We are working now with teams around the world. We fund research and programs that will help find treatments and a better understanding of the syndrome. We advocate for RARE disorders and ADNP with our legislators and join together with other rare disease advocacy groups. We are still just learning about it.
Funding strategy: Right now, it’s been through families on social media and through press, and just good old-fashioned grassroots fundraising.
What’s changing at your organization in the next year: We’re hoping to begin an orphan drug trial with a drug that is coming out of Israel from a company called Coronis Neurosciences. The U.S. drug trial will be stationed on the East Coast at Mount Sinai in New York and on the West Coast at the University of Washington in Seattle and will recruit patients throughout the entire country. We are also working on a second drug discovery program and hope that this leads us to more drug trials in the very near future. Our team at Mount Sinai has also created iPSC cell lines and are focusing on developing treatments as well as expanding the phenotype of ADNP and we are hopeful that this will result in additional drug discovery efforts as early as next year. We are also planning to begin a natural history study and a Face2Gene project as well.
Management philosophy: We’re a volunteer organization. No one is paid. I try to take everything one day at a time. That’s my personal philosophy. I ask a lot of questions, learn as much as possible, collaborate with like-minded people, share my personal story, and just try to help the ADNP community in any way possible.
Guiding principles for running an effective organization: Get advice from others who have been successful. Most of us rare disease parents are racing to help our kids. We don’t have time to reinvent the wheel. Something somebody told me in the very beginning was to learn from others and it will save you a lot of time and a lot of trouble. That has been important in running the organization. We also always try to advocate for and educate others about ADNP. I believe sharing our stories can be the most effective way to spread awareness.
Best way to
keep your organization relevant: Being connected with patients and
their families. We have a strong and supportive patient group of families
willing to help drive and participate in research. I think that’s what most
researchers and industry stakeholders like most.
Why people like working with you: I’m passionate about driving research and won’t let anything stop me. I talk to everyone and I don’t sugar coat things. Families know I am working day and night for not only my child, but also for their children. I also don’t care that I’m ‘just a parent’ so I’m not afraid to pick up a phone and call the director of Mount Sinai, the chief science officer of Autism Speaks or the Israeli scientist who discovered the gene and ask them questions and for help. There’s a big group of researchers who value parent input and realize we have become the experts on our child’s syndrome. I reach out to those types of people and they value the parent input and expertise and they seem to really appreciate the involvement.
Mentor: There are just too many people in the rare community who have helped me. I could never name just one. They have all become mentors.
On the Job
What inspires you: My son and all the other ADNP kids inspire me. My eyes are always on the prize of helping the kids.
What makes you hopeful: The recent level of drug development makes me hopeful. The fact that we have one drug already in the pipeline with FDA orphan drug designation and a second possible drug in the research pipeline makes me hopeful that we’ll soon have treatments for our kids with ADNP syndrome.
Best organization decision: Developing strong relationships and strategic alliances with academic researchers, community, and industry stakeholders. We have a good collection of relationships with a very good group of people right now.
Hardest lesson learned: The only thing getting between aggressive research and drug discovery is funding. Money talks. Money drives research. If you don’t have funding everything stops. It’s a blessing and a curse, we dove so quickly into amazing research projects and drug discovery and trials that we are struggling to get big funding.
Toughest organization decision: We want to make good decisions with our groups of academic researchers and stakeholders. Sometimes that means deciding not to work with someone if we think they won’t collaborate well or work well with the team. We are doing important work and our biggest concern is time. We want to make sure everyone works well together, that they share information, and that they all have the same number one priority which is to help the children.
Biggest missed opportunity: Incorporating international families into our organization has been our biggest missed opportunity. This is something that we thought about since the beginning. With limited volunteers we have been unable to navigate the complexities of international privacy policies. That creates a huge roadblock for us right now and we are unable to get this launched.
Like best about the job: Meeting all of the new families and welcoming them into our ADNP family. It’s something I didn’t get to experience because there was nothing when my son was diagnosed. I know what it feels like when you finally get a diagnosis and you think you’re all alone. I love that I can tell others that they are not alone and that they have community and family who are on the same journey as they are. We have an ADNP tribe and that’s what I like best.
Like least about the job: Not having enough time or resources needed to get things done and also the hours, months and years that are spent working and traveling and not with my family. It’s a necessary evil though. It has to get done.
Pet peeve: When doctors don’t educate themselves on rare disorders and they don’t listen to parents. That’s my pet peeve.
First choice for a new career: Medical researcher
Most influential book: The Bible
movie: The Princess Bride
Favorite music: Christmas carols (Don’t judge me, they make me happy)
Favorite food: Pizza
Guilty pleasure: Sweets
Favorite way to spend free time: Sleeping, which doesn’t happen often.