How a father’s quest for his son’s diagnosis brought the rare disease community together
On October 23rd, 2020, the courageous and kind Bertrand Might passed away at age 12 from NGLY1 deficiency. Thanks to his parent’s Matt and Cristina Might’s determination and perseverance, clinicians managed to identify Bertrand’s underlying genetic variation that caused his clinical features including developmental delay, lack of motor control, and seizures. Matt and his wife Cristina, who did not have biomedical training, realized that in addition to phenotypes that suggested Bertrand could have ataxia telangiectasia, or inborn errors of metabolism, he had an additional and unusual phenotype: he did not produce tears. Whole exome sequencing revealed that Bertrand had a variation in the NGLY1 gene and this was the underlying cause of his disorder. At the time he was diagnosed in 2010, he was the very first patient to be diagnosed with this rare disease, and through Matt’s efforts to share his story and Bertrand’s results with the biomedical community, he and other clinicians were able to help other families reveal the same diagnosis in their children affected by this rare disease. To date, over 60 other patients have been identified that share Bertrand’s diagnosis — helping to reveal underlying mechanisms of the NGLY1 congenital disorders of glycosylation.
In the case of rare diseases, oftentimes patients and their families, like Bertrand’s parents, can be the best and most effective source of phenotyping information for their condition. The Monarch Initiative provides phenotyping information about rare diseases, using clinical terminology from the Human Phenotype Ontology (HPO). However, not all patients or their family members are experts in clinical terminology or have the time to commit to researching the medical literature. To make the HPO more accessible to families, we added layperson synonyms to the medical terminology in the HPO. For example, Absence of tears in the eyes is a layperson synonym for HP:0000522 Alacrima. This also enhances the interoperability of the HPO for clinicians, as they can search for more colloquial terms that patients may be using.
The Mights have demonstrated, through their heart-breaking reality, the value of sharing data and collaborations between patients, researchers, and clinicians and across the entire rare disease community. We send our deepest sympathy to the Mights for their loss and we thank Matt for his valuable contributions to the field of rare disease that have inspired us all to work ever harder, together, to help all rare disease patients.
In the sadness of a beautiful life cut short too soon, Bertrand will always be remembered for his strength, his cheer, and his pure heart. All are welcome to share their memories and condolences here.
Learn more about Bertrand Might below:
Bertrand Thomas Might’s Obituary: https://www.dignitymemorial.com/obituaries/homewood-al/bertrand-might-9864745
The blog post by Matt Might that connected the Mights with other patients with NGLY1 deficiency: http://matt.might.net/articles/my-sons-killer/
NGLY1 Foundation: https://www.ngly1.org/
About Matt Might:
Dr. Matthew Might has been the Director of the Hugh Kaul Precision Medicine Institute at the University of Alabama at Birmingham (UAB) since 2017. At UAB, Dr. Might is the Hugh Kaul Endowed Chair of Personalized Medicine, a Professor of Internal Medicine and a Professor of Computer Science.
From 2016 to 2018, Dr. Might was a Strategist in the Executive Office of the President in The White House. In 2015, Dr. Might joined the faculty of the Department of Biomedical Informatics at the Harvard Medical School, first as Visiting Professor and since 2017 as Senior Lecturer.
Dr. Might is co-founder and Chief Scientific Officer of NGLY1.org, and he was a co-founder and Scientific Advisor to Pairnomix. Q State Biosciences acquired Pairnomix in October 2018 and Dr. Might remains a Scientific Advisor and Board Member.