Last Fall I was honored to be asked by NYMAC (New York Mid-Atlantic Collaborative) to write an article for a national genetics publication: The NCC (National Coordinating Center) Collaborator Newsletter. Recently this article was published in the January 2016 issue. My article on The “Future Of Genetics”can be found on page 10: NCC January 2016 Issue
A PDF of the issue can be read here: NCC Collaborator 2016 Wees pg 10
Here is the text of the article, which I wrote
(prior to editing):
Future of Genetics- A Consumer Perspective
By Kristi Wees MS Chem
NYMAC Consumer Advocate
MSGRC Social Media Coordinator
Seven years ago we embarked on a journey, for which we were unprepared. We couldn’t imagine that our little girl’s first years of life would be wrapped in misery and medical diagnostic mystery. Fast forward, to today and our family is empowered with knowledge, advocacy skills, and the hope we have gathered along the way. So what does the future of genetics look like from our perspective?
We have been told our daughter is suspected of having a mitochondrial disorder, which we were told, is genetic and congenital. Many have said there is no single test to diagnose it and there is no cure. Others told us that diet and environmental changes have no impact on disease progression. As parents, what we SAW in our daughter did not match what we were being TOLD. We saw her health drastically decline after every round of childhood vaccinations. We saw her exhibit autistic-like behaviors after introducing milk, and witnessed her neurological reactions to household products (hairspray, window cleaner, etc.). We began to “lose” her around 18 months; all while multiple sub-specialists were perplexed as to what could cause her symptoms.
Currently, no genetic cause has been found, after years of testing. As parents we have had to actively pursue, coordinate and research our daughter’s condition and care. No one connected her dots or her many specialists, until we stepped up to do that. Based on these personal experiences, in order for the future of genetics to be successful for every patient, three areas need to be addressed:
· Environmental exposures must be equally considered in every case. Unless a genetic condition has 100% penetrance, environmental factors do impact a patient’s life. “Environmental” includes everything from the micobiome to air quality; from medications to pesticides on food, and everything in between.
· Epigenomics– Recognizing that this “turning on and off of genes” is modifiable through environmental factors, specifically diet and nutrition, is crucial; as is acknowledging that “inherited” does not equate to “genetic”.
· Patients/family need to become EQUAL members of the care team to contribute to the individual’s care. Parents prefer personalized care to “one-size-fits” all medical practice.
Many patients can experience an improved quality of life, with a concerted effort to integrate these areas into genetics practice irrespective of their disease prognosis. By empowering the patient/family to take an active role in their healthcare, it is possible to uncover creative, cost-effective, and disease-improving solutions for that patient, and also potentially others.
Our daughter’s future could not wait. We followed our instincts regarding diet and environmental changes. What we witnessed is nothing short of a miracle; our daughter re-emerged and returned to us. Today, she is a happy, engaged 6-year-old with a very BRIGHT future.