Ava
A few years ago I learned about the multiple health challenges facing the children in the Szajnuk family (they also go by “Zanik”) from Carla Oliver, our church choir director and their grandmother. Their three children struggle with pain, inability to cool down when they become warm and multiple other complex symptoms. The story of one of the children, Ava, was covered in a great story in the Salt Lake Tribune. In addition to the symptoms that she shares with her sibling, Ava had an arachnoid cyst and required surgical treatment. Many of my conversations with this family have been about working to identify a genomic answer to their children’s condition. That is still a work in progress and will be a future topic; it remains to be seen whether the genomic aspect of precision medicine will be informative to this family during their diagnostic odyssey.
During my discussions with Gina Szajnuk, the children’s mother (she also experiences some of the symptoms), I learned about their participation in autonomic testing. While a necessary and informative part of their diagnostic journey, the process sounded scary for an adult and horrifying for children. The testing involved strapping the children to a tilting table to evaluate positional effects on blood pressure and heart rate. They were exposed to temperature shifts and were monitored for changes in sweat and other parameters. The pictures of this process were very disturbing. I was left thinking that even if we can’t find a genomic answer, the temperature regulation problems are worth further research.
I monitor a number of technology “Challenges” in which participants submit ideas for the opportunity to win recognition and awards. My professional and research interests are at the intersection of technology and healthcare, so a current challenge, “Wearables in Healthcare” caught my attention. The contest has seven initial phase awards, many for early access to technologies from start up companies. The winners of the seven initial awards are provided with the opportunity to “pitch” to Google for a Platinum Prize (details not yet announced). I had been following the emerging trend of the “Internet of Things” and this challenge intrigued me. Two of the categories captured my interest as I reflected on the journey of the Szajnuk family. The first is a wearable thermometer. As I researched dysautonomia (abnormalities of autonomic function, including temperature regulation), I found that there are many conditions including thyroid diseases, mitochondrial diseases, neurological diseases and traumatic brain injuries in which patients struggle to regulate their body temperature. I found that in some cases, some persons with dysautonomia have a consistently lower body temperature, often in the 96 or 97 degree range. This means that a fever for them would be what the rest of us consider “normal” – 98.6 degrees. In other conditions, body temperatures are consistently higher than 98.6. Lack of understanding of this can create a risk of misdiagnosis of infection.
To me, this is a classic “Personalized Medicine” or now, “Precision medicine”, issue. Clinical decision making is based on national population averages, while regional or individual differences (often with a genetic basis) can have strong influence on what is “normal” for a given individual.
So I decided to write two entries for this contest. One focuses on analysis, the other on intervention. The analysis project seeks to win the Raiing iThermonitor prize – 10 wearable thermometers. I propose to use these to better understand the “personal normal” temperature and trends for persons with dysautonomia. The second entry seeks to win the Embr Labs prize – 10 “Wristify” devices – bracelets that can provide either warmth or cooling to the wearer. I would evaluate the impact of these devices on perceived comfort. An ideal scenario would be to win both categories and integrate the analysis and intervention.
If either of my entries “wins” its category, I would be invited to Boston to make a pitch to Google for the Platinum Prize (no details have yet been provided, but it sounds exciting no matter what). My pitch would highlight the journey of the Szajnuk family and the variety of conditions in which inability to regulate body temperature negatively influences quality of life.
Please consider voting for one or both of my entries:
2 – Wristify heating and cooling bracelets
In order to vote, you have to sign up for a Medstro account. They can carry over information from your Facebook, Twitter, LinkedIn, Google+ and other social media accounts. After registering and trying to vote, make sure that the vote count goes up for the entry. Thanks!
Please share this through social media and email. Entries are evaluated by number of votes and judging scores. The judging scores are weighted by the number of votes. Voting ends on March 28th.
Also, Gina Szajnuk has founded a new organization – the Rare Undiagnosed Network (RUN). I am honored to serve as a volunteer member of the Advisory Board.