After the last 15 months of isolation, the first International Myhre Syndrome Foundation Virtual Conference held July 10-11, 2021 was just what our Myhre community needed. For two days, over 150 Myhre families, researchers and healthcare providers from 19 countries connected through cyberspace to hear 21 speakers on topics as varied as genetic causes, caregiver stress and the unique cardiovascular features of the syndrome.
But the real “heart” of Myhre was seen early Saturday morning as computer screens turned on for a Virtual Coffee Hour. Participants as far as Brazil, the Netherlands, Scotland and North America crossed time zones to share an hour of caffeine and connection. For some, who had only recently received the diagnosis, it was the first time seeing the familiar “Myhre face” smiling back at them. One mom, teary-eyed with recognition, bounced her baby on her lap and shared how overwhelmed she was to see Myhre teenagers and adults, imagining for the first time a hopeful future for her son.
Others laughed and waved as old friends reconnected and new friends squealed, “I’ve been following you on Facebook and we don’t live far from you. When things open up, we have to get together!”
Dr. Angela Lin, Director of the Myhre Syndrome Clinic at Massachusetts General Hospital, opened the conference recognizing the unique experience of living with such a rare disease.
“Getting a Myhre syndrome diagnosis can feel like a tidal wave or a broken heart but also like finding the missing piece to the puzzle.”
And throughout the day, participants listened eagerly as each speaker slid another piece in place, gently bringing the picture of Myhre into focus. Speakers like Dr. Matt Thompson who used therapeutic humour to explain the role of the primary care physician for patients with Myhre.
“The pediatrician isn’t the quarterback. He’s the team manager who makes sure water bottles are full, keeps track of the towels and tapes the occasional ankle while ensuring the team moves the kid toward the goal.”
The second day of the conference focussed on doctors and researchers as they discussed clinical findings and scientific advances. Speakers included Dr. Bert Callewaert explaining what is known about adults with Myhre syndrome. Dr. Michael Cohen, ENT, then unpacked the implications of Myhre on auditory function and advocated for school accommodations and technological aids for children with hearing impairments to support them to develop to their full potential.
When asked about obstacles to advances in treatment, Dr. Lin reminded us that “there was a time doctors never spoke about money because it was an “ick” factor but promising treatments depend on research and evidence-based research costs.” How wonderful to learn that by the end of the conference over $7000 had been raised to support the MSF research grant program to be launched later this summer!
The 2021 Myhre Syndrome Foundation Virtual Conference was a resounding success. So many connections made and endless knowledge gained. But perhaps the greatest lesson learned was summed up by mother, Kate Wears, who shared in her Myhre and Me video testimonial,
“When we got the diagnosis, we were in shock and wondered what will his life be like? But then we realized that no one knows what the future brings and we just have to get on with it. He certainly doesn’t let worry get in the way of living his life now. He’s just a happy boy who loves music and loves to dance. We are resilient and live in the present. Enjoy it. Enjoy it now.”
See you next year! #Myhre2022 😊
Written by Maia Aziz, July 2021