Tag Archives: Matt Might

NUBPL – Mitochondrial Complex 1

IMG_6825As many of you have already heard, KB was recently diagnosed with NUBPL – a rare form of Mitochondrial Complex 1 disorder. We cannot say enough good things about the genetic testing company, GeneDx, that provided the Whole Exome Sequencing. They have a very generous financial assistance policy (FAP) that allows them to work with patients on their out-of-pocket-costs, which is such a blessing on this financially strenuous journey.

We are pleased to let you know that since being diagnosed with NUBPL we have found another family with two daughters, Cali and Ryaan, with this same disorder. From the moment we watched their video, The Life We Live, and saw their photographs, we knew we found our community. What’s more is they are a wonderful family who shares the same passion for their family and drive to find a cure. They introduced us to their doctor, Virginia Kimonis, University of California Irvine, who has discussed her research with us. Here’s a wonderful article about Dr. Kimonis and The Spooner Family. We have spoken at length with Dr. Kimonis and are planning a trip to California to meet with her team and The Spooners.

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The Spooner Family

At this time, we have just three patients from the United States – Cali, Ryaan, and Katherine Belle. We are very hopeful we will find others in time. For now, together we face the monumental task of privately funding NUBPL research. Both families agree we will not let financial obstacles stand in the way of helping our children. We have created a NUBPL.org site and Facebook page to facilitate the search for other NUBPL patients and raise funds. Please take a moment to view our new site and Facebook page and share with your networks. A special thanks to Matt Might for the shout out in his informative post, Discovering new diseases with the internet: How to find a matching patient.

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Cali, 16
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Ryaan, 6
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Katherine Belle, 3

Last week we learned the wonderful news that KB has been accepted for the U.S. National Institutes of Health EPI 743 clinical study. We feel very blessed to be in this study and are quite hopeful this drug will greatly improve her mitochondrial function. We are hopeful that Cali and Ryaan will be admitted to this trial in the future.

How Social Media Impacts Scientific Research

This article in the New Yorker is by far the most important article we’ve read to date that defines our purpose and hope for Katherine Belle.  Thanks to the Mights and Wilseys for confirming what we hope to achieve and proving there are other options than just waiting and hoping science “catches up.”  When parents are given no other option but to create websites and post articles with their genetic data to accelerate research and treatments for our dying children, there is a serious problem with the system.   We are an important part of the diagnostic team and can play a critical role in helping decipher the human genome.  My question is why aren’t more journalists talking about this problem?

Matt Might gave a talk titled “Accelerating Rare Disease.” After describing the effects of his blog post, he told the crowd that it was inevitable that parents of children with other newly discovered diseases would form proactive communities, much as he, Cristina, and the Wilseys had done. Vandana Shashi believes that such communities represent a new paradigm for conducting medical research. “It’s kind of a shift in the scientific world that we have to recognize—that, in this day of social media, dedicated, educated, and well-informed families have the ability to make a huge impact,” she told me. “Gone are the days when we could just say, ‘We’re a cloistered community of researchers, and we alone know how to do this.’

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