Matt.Might.net has had many submissions to HN [1]. Professor Might pivoted from CS to medicine on account of his family's success figuring out Bertrand Might's (their first-born son) medical problem. Further context for this link is provided in HN-moderator dang's comment on a 2018 submission about the family's efforts to improve diagnosis and treatment for rare diseases: https://news.ycombinator.com/item?id=17962575
I read Cristina and Matt Might's blog posts [2] in 2010, when they were in the midst of their search for a diagnosis for their son. In 2012 they determined [3] Bertrand had a glycolysation disorder caused by inheriting two malformed copies of the NGLY1 gene [4] [5]. The family moved from Utah to Alabama for the University of Alabama's medical school [6], and probably also for the change of weather (Utah: substantial snowfall every winter. Birmingham, Alabama: 1 inch snow/year). They eventually decided the odds of their having a second child with Bertrand's NGLY1 disorder were acceptably low; their other two children are not affected by Bertrand's genetic condition.
Bertrand Might suddenly passed away in late October 2020, not quite 13 years old.
***
Growing up is like getting to the Moon and back. Most people make it to adulthood, but we all need help getting there. Parents are our Mission Control. Matt and Cristina found themselves in an Apollo 13 scenario [7] -- "Houston, we have a problem" -- soon after Bertrand's birth. One of Bertrand's symptoms was lack of tears. Matt posted a writeup after they pinpointed the genetic cause of Bertrand's condition: "My Son's Killer" [3].
Matt added 'precision medicine' to his undertakings. They rose to their occasion, found their answers and almost had Bertrand back to Earth ("A significant gene therapy trial is on the horizon" [8]). Suddenly losing their son is tough (but not entirely unexpected), as it is for all parents who outlive their progeny.
My condolences to the family.
***
[This is a moderator-initiated repost of my November 2020 submission.]
I read Cristina and Matt Might's blog posts [2] in 2010, when they were in the midst of their search for a diagnosis for their son. In 2012 they determined [3] Bertrand had a glycolysation disorder caused by inheriting two malformed copies of the NGLY1 gene [4] [5]. The family moved from Utah to Alabama for the University of Alabama's medical school [6], and probably also for the change of weather (Utah: substantial snowfall every winter. Birmingham, Alabama: 1 inch snow/year). They eventually decided the odds of their having a second child with Bertrand's NGLY1 disorder were acceptably low; their other two children are not affected by Bertrand's genetic condition.
Bertrand Might suddenly passed away in late October 2020, not quite 13 years old.
***
Growing up is like getting to the Moon and back. Most people make it to adulthood, but we all need help getting there. Parents are our Mission Control. Matt and Cristina found themselves in an Apollo 13 scenario [7] -- "Houston, we have a problem" -- soon after Bertrand's birth. One of Bertrand's symptoms was lack of tears. Matt posted a writeup after they pinpointed the genetic cause of Bertrand's condition: "My Son's Killer" [3].
Matt added 'precision medicine' to his undertakings. They rose to their occasion, found their answers and almost had Bertrand back to Earth ("A significant gene therapy trial is on the horizon" [8]). Suddenly losing their son is tough (but not entirely unexpected), as it is for all parents who outlive their progeny.
My condolences to the family.
***
[This is a moderator-initiated repost of my November 2020 submission.]
[1] https://news.ycombinator.com/from?site=might.net
[2] http://www.overcomingmovementdisorder.com/
[3] http://matt.might.net/articles/my-sons-killer/
[4] https://en.wikipedia.org/wiki/NGLY1_deficiency and https://en.wikipedia.org/wiki/NGLY1#Clinical_significance (Bertrand Might was the 2012 patient mentioned in this section -- references [40] and [46][47][48]).
[5] https://www.ngly1.org/
[6] https://www.uab.edu/medicine/pmi/matt-might
[7] https://en.wikipedia.org/wiki/Apollo_13
[8] http://bertrand.might.net/#glycocauses