July 17, 2014

Bertrand's story hits The New Yorker!

Our family is grateful to journalist, bestselling author and MIT professor, Seth Mnookin.  His time, thoroughness, and dedication to the NGLY1 story were astounding.  We are also indebted to The New Yorker.  Their staff of editors and fact checkers left us awed.  This was a work of true, old-school journalism.  We're proud to be a part of it.

ONE OF A KIND

What do you do if your child has a condition that is new to science?

BY SETH MNOOKIN
JULY 21, 2014

Until recently, Bertrand Might was the only known patient with a certain genetic disorder. His parents began searching for others.
Until recently, Bertrand Might was the only known patient with a certain genetic disorder. His parents began searching for others. Photograph by Phillip Toledano.
Matt Might and Cristina Casanova met in the spring of 2002, as twenty-year-old undergraduates at the Georgia Institute of Technology. Cristina was an industrial-design major with an interest in philosophy; Matt was a shy computer geek obsessed with “Star Trek.” At first, Cristina took no notice of him, but the two soon became friends, and that fall they began dating. Within a year, they were married.
The couple had their first child, a son, on December 9, 2007, not long after Matt completed his Ph.D. in computer science and Cristina earned her M.B.A. They named him Bertrand, in honor of the British philosopher and mathematician Bertrand Russell. After a few blissful weeks, the new parents began to worry. Matt and Cristina described Bertrand to friends as being “jiggly”; his body appeared always to be in motion, as if he were lying on a bed of Jell-O. He also seemed to be in near-constant distress, and Matt’s efforts to comfort him “just enraged him,” Matt says. “I felt like a failure as a father.” When the Mights raised their concerns with Bertrand’s doctor, they were assured that his development was within normal variations. Not until Bertrand’s six-month checkup did his pediatrician agree that there was cause for concern.
By then, Matt had a new job, as an assistant professor at the University of Utah’s School of Computing. It took two months to get Bertrand on the schedule of a developmental specialist in Salt Lake City, and the first available appointment fell on the same day as a mandatory faculty retreat. That afternoon, when Matt was able to check his phone, he saw that Cristina had left several messages. “I didn’t listen to them,” he told me in an e-mail. “I didn’t have to. The number of them told me this was really bad.”  
Read the rest HERE.

6 comments :

  1. the "New Yorker" article is so informative and the pictures are great, 5 cute people! thanks for both joan hall

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    Replies
    1. Thank you, Joan! Will be sending a card out to you soon. :) Love & hugs!

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  2. Cristina,
    The New Yorker piece was an emotional read for many of us in the rare disease community, me included, since it really hit home. Me and my younger brother have an uber rare inborn error of metabolism and it's never been pinpointed.

    'It's definitely, unmistakably metabolic, having some of the markers of mitochondrial disease (lactic acidosis, carnitine deficiency) but people can be forgiven for mistaking us for muscular dystrophy, skeletal muscle being gone and us being 24/7 ventilator dependent from childhood but no neuro symptoms. But unmetabolized lipids in the tissues probably caused the muscle loss, so mischaracterizing me as more typical muscular dystrophy nearly got me killed on multiple occasions... that is another risk of rare disease.

    This article really touched me, especially “It was really frustrating for us—our child hot-potatoed back and forth, nothing getting done, nothing being found out, nobody even telling us what the next step should be.” You can imagine how horrible that feels when you're the child, and your life and death doesn't rate anyone's time. I grew up not dissimilar from Bertrand. I'm 32 now, the disease not being straightforward enough to actually kill us, and I type, blog and create comic books with my thumb and ancient trackball mouse, hand mini-movements all that is left. We did whole family whole exome sequencing at Columbia Presbyterian last year that came up empty, and now it's back to nothing being found out and no next-steps evident. Thanks so much for sharing your story online so I know that I'm not alone!

    Some questions:
    do you know anyone who would know how to get in touch with Harvard Medical's super rare disease coordinating project mentioned in this article?
    Where do you get the cocoa extract and NEC?
    the bulk of what I take are vitamins and supplements, so I relate here too...

    In gratitude,

    Nick

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  3. Hi Nick: You can contact Alexa McCray at Harvard. She is one of the leads of the NIH led UDN (undiagnosed diseases) project.

    Phone: (617) 432 2144. E-mail: alexa_mccray@hms.harvard.edu

    Contact Address:
    Center for Biomedical Informatics
    10 Shattuck Street
    Boston, MA 02115

    Hope this Helps :-)

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  4. If you experience any difficulties in receiving timely, helpful response from Alexa you can contact Cyndi Tifft at NIH, who should be able to steer you in right direction.

    Cyntia Tifft

    phone: (301) 451-8485 email: ctifft@nih.gov

    ReplyDelete