Monday, December 1, 2014

I Dream of Gene-y


When I was a little girl I told people I was going to be a genetic engineer. I went to the library and repeatedly checked out books having to do with mutations and various health conditions caused by them. Frankly, I was fascinated by the freaks of nature and now I feel as though I am one myself now that I'm battling autoimmune disease.

When I was an adult I tried working in labs, but it was too far removed from clinical practice and I was easily bored or distracted. I thought my dreams of being a genetic engineer had come to a close. Nowadays, however, I feel like things are coming back full circle as I'm starting to understand the huge role environmental factors (including nutrition) play in our gene expression.

>>>For a crash course in what I'm talking about, check out NOVA's special on epigenetics.<<<

Sorry to sound like Rumsfield here, but there's so much I don't know, and many things I don't even know I don't know. This is all the more tragic because I've done eight years of medical school and training combined and this VERY important aspect of health care, bio-individualized medicine, never came up!

I'm now challenged with having to hunt for information on this complex subject matter and digest it (no pun intended) as quickly as possible. I hunger for this knowledge. I want it for myself and others suffering from diseases that just won't respond to conventional treatment. I'm willing to bet a lot of them fall under the umbrella of metabolic disruption from an unknown gene anomaly. I'm also hoping they can be alleviated, even cured, by informed dietary changes or other out-of-the-box methods.

So, how do I dive into this genetic realm? That's what I'm going to share here as I chronicle my journey in medicine.

Stay tuned with this timeline:

8.2.12 I am diagnosed with an autoimmune disease.

I spend the next two years failing traditional pharmaceutical treatments. It becomes clear that if I want to move on with my life I will need to think outside the box. I start looking into integrative medicine, which doesn't seek to replace conventional medicine, but is open to non-pharmaceutical techniques.

2.20.14 At this point I have studied and researched so much on integrative medicine I am eligible to sit for board certification in this specialty and I pass with flying colors!

In my studying, I learned quite a bit about genetic derangements that leave one susceptible to high inflammatory states, metabolic disorders. I decide to pursue this further.

10.21.14 Received my genetic profile. I download my raw genetic data into Genetic Genie and Promethease. I proceed to scratch my head, wondering what to do with my results.

10.30.14 I attend the annual conference for integrative physicians in San Diego. My sub-interest remains fixed on genes and biochemistry. I'm looking for data to back up integrative practices.

I meet Dr. Pizzorno and purchase his book, looking for functional medicine theories and treatments backed up by science.
12.01.14 I'm referred to this website, https://mabim.org/, where I find this neat and FREE download-able talk about reading one's genetic profile.

12.11.14 I go into remission from ulcerative colitis using a combination of pharmaceuticals drugs (informed by my genetic makeup) and supplements (particularly a mushroom extract that gets me off prednisone).

2.3.15 I meet with an integrative family doctor in Oak Park, IL. I come to realize that I need to contribute to evidenced-medicine in the integrative/functional medicine world.

5.9.15 I attend a conference on the power of medicinal mushrooms and meet THE man himself, Paul Stamets. I tell him all about how his Cordychi product changed my life and we decide to keep in touch. What was also really cool about this event was that I sat among a group of other integrative female physicians (most or all of them mothers!). Contact info was shared.

5.28.15 I travel to Austin TX for the IFM conference on genomics in medicine. It is here that I first learn about the President's Precision Medicine Initiative.


11.20.15 I meet with academic integrative medicine practitioners (the ones I was introduced to at the Paul Stamet's event) at NorthShore Health in Glenview, IL.  I'm inspired by their commitment to social justice and evidenced-based methods for expanding integrative care.

As I look at fellowship opportunities in integrative medicine, I realize they're meant for primary care physicians, mostly family physicians.

I also take a hard look at a lot of questionable moves by other physicians in this field and am worried about their unsubstantiated claims and slick marketing maneuvers. As a relative outsider, I wonder if there's a place for me to contribute without compromising my values.

1.1.16. After much self-reflection and research, I try bringing things back to my original passion for genetics. I realize integrative/functional medicine, while important, does not have to be my only link to the rapidly evolving field of genomics. In fact, there's more going on in bioinformatics as it relates to this. I then reach out to a fellowship director in clinical informatics (CI) and express my interest in this field. This quickly evolves into a passion, a goal of mine to enter CI as a means of contributing to the Precision Medicine Initiative.

2.29.16 I reach out to a new medical tech startup company and ask if I can be a physician liaison of sorts. Their premise is to bring genetic information to patients, which can then inform physicians of risk factor or other considerations when making diagnoses, or prescribing treatment.

4.22.16 I meet with the COO and CEO of the medical tech startup at MATTER Chicago. A relationship is formed.
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