By Amy Clugston

We attended a local Rare Disease Day event where they have speakers, breakout sessions & exhibit tables. We have attended the past several years to put a table up for DYRK1A Syndrome. This year we got our table all set up and walked into the plenary session. Lorna chose to sit right in the front row a few feet away from the stage. I hadn't yet seen the speaker line up, so I was surprised to see a geneticist that we had seen nearly 20 years ago. Dr. Helga Toriello was the very first geneticist we saw for Lorna back in 1996 and our last visit with her was in 2005.

She was speaking about how the genetics field has changed since she started back in the 80's. She was well known for her expertise in dysmorphology and has discovered some rare conditions. As she finished her presentation, she took the stage and sat down with other speakers to ask questions. Since we were directly in the front, we had no obstructions between us. I see her look at Lorna and then at me and as we make direct eye contact, I see her mouth without sound "Is that Lorna?" I shook my head "Yes".

Afterwards, we were able to talk, I asked her how she remembered us, and she said that she had shared Lorna's case with other geneticists in years past when we were looking for a diagnosis. I told her about Lorna's diagnosis of DYRK1A Syndrome which she received in 2014. She wasn't familiar with it, so she visited our table to get some more details.

Amazingly, she remembered us after all these years. Being memorable is one advantage of being rare and unique.

Happy Rare Disease Day!