For the last 35-years, the first Sunday in June marks the day when families with familial dysautonomia gather together for a conference to hear about the scientific progress being made in their rare disease. Traditionally, the meeting was based at NYU Medical Center. With the global pandemic striking the heart of NY City, for this year’s event, FD Day when virtual.

Knowing we were talking to an international audience this year’s conference highlighted the global network of doctors and researchers dedicated to FD. Dr. Horacio Kaufmann spoke about the origins of the FD mutation, and why we now see patients with FD in countries the U.S., Israel, Australia, Belgium, England, Brazil, Mexico, Argentina, and South Africa. The remarkable fact is that all these families can be traced back to a common ancestor, who lived within the Pale of Settlement – around the 1500’s, probably somewhere near modern-day Poland (read here).  The fascinating story of how the FD mutation ended up in so many countries is the reason why the NYU Dysautonomia Team work an entire network of local specialist doctors.

The families had the opportunity to hear from Dr. Batel Bar Aluma, a pediatric pulmonologist working and Tel Hashomer in Tel Aviv, who follows a large cohort of patients and is now a member of the scientific advisory board for the FD Foundation. Families also had the opportunity to hear from Dr. Alex Gileles-Hillel who continues the long tradition of caring for patients with FD at Hadassah University Medical Center in Jerusalem. Dr. Gileles-Hillel is an expert in the control of breathing – which makes him an important part of the team. Both hospitals are official enrollment sites in our natural history study (read more here).

Dr. Alberto Palma explained to families the importance of being able to track their clinical information to help understand more about the disease and which are the most effective treatments. We often think of a wall between research and clinical care, but the power of using big datasets to analyze the impact of different treatments can change our approach to medical care. FD is a perfect example of a disease in which the clinical care was rapidly adapted based on the knowledge learned from exploring the data. The team started reducing medications that were linked to faster development of kidney failure and they started treating sleep apneas as a possible way to prevent sudden death during sleep.

The medical doctors took part in a panel to answer questions submitted by the audience which touch on important issue like how to stay safe at the time of COVID (read our guide here), how to manage anxiety, and how to treat a hypertensive crisis.

The next session was co-hosted by Dr. Frances Lefcort and Adrian Gilbert, who co-chair the FD Foundation’s Scientific Advisory Board. The session kicked off with Dr. Norcliffe-Kaufmann talking about the importance of the natural history study and how this stimulates basic science research. Dr. Leftcort spoke about her work to understand the gut microbiome  in the context of nerve health. Next to speak was top Harvard scientist Dr. Susan Slaugenhaupt, who found the gene and runs a lab which is searching for ways to fix the genetic defect.

The Center recently sent Israeli scientist Dr. Miguel Weil a shipment of samples to stimulate his bench research. On a visit to Israel last year, they realized that Dr. Weil was relying on using old cell lines, which can’t be traced back to the clinical information. With new samples the NYU team sent, he is looking at the effects of vitamins on the cells. The research team held a Q and A session for families that included an exciting discussion on the possible new therapies in the pipeline.

We may be an orphan disease, but we are a mighty force for progress. – Dr. Norcliffe-Kaufmann.

It was always my dream to make FD Day an international event, explained Dr. Norcliffe-Kaufmann.  That happened in 2020. It was a silver-lining in the COVID pandemic. We had families tuning in from all over the world, who should feel encouraged by the global team of clinicians and scientists working on FD. The way the community has come together in recent years hopefully marks a real turning point in our ability to find new therapies.