Precision Medicine

My Genes Just Told My Hormone Story

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It took 48 years but I finally got some answers.

As a teen who was sure I had something wrong with my hormones but couldn’t get an answer and as a young woman who was still certain that there was something wrong with my hormones I couldn’t get an answer.  I couldn’t even get a blood test to find out what my hormones were doing.  Not when I complained of acne that lingered as an adult.  Not when I asked about my lack of periods. Not when I asked about my libido.  Not when I miscarried 2 babies. The years went by and I was given all sorts of reasons by all sorts of doctors. One great doctor did test me but if you aren’t specifically trained in knowing about hormones you don’t get any answers – at least she tried.  So over the years as I moved around the country I was referred to a dermatologist for acne, I was offered birth control pills, I was offered anti-depressants, I was referred to an ob/gyn for infertility, I was told to wait until I lost 3 babies before we would test my hormones, I suffered severe bouts of PMS and so did my family along with me, I suffered Postpartum Mood Disorder which got increasingly worse with each of my 3 successful pregnancies until it became severe and debilitating.

Fast forward to September 2016…I am in charge of my health – YAY me!  Times have changed and we know a LOT more about hormones.  Patients are empowered.  And of course the internet has patient groups and medical sites and so much information it’s hard to sift through it all and know what to believe.  And most of all we are embarking on a new age of medicine – the molecular age.  Science and technology are converging to provide us huge insights into our health and here’s what’s happened in my life…

A few weeks ago, along with the women on the myAva Patient Advisory Board – the first women to experience myAva’s Precision Medicine PCOS Program, I got my DNA tested.  The kind of genetic analysis I’m referring to is called Whole Exome Sequencing which is the most efficient way while still being comprehensive enough to identify the genetic variants in all of a person’s genes.  My report was delivered by two brilliant genetists from GeneYouIn who went through my mutations with me and two of my phenomenal physicians one by one answering our questions as we went.  At the end of it I was provided with my full report, including links to relevant research as well as follow-up recommendations.

[pullquote align=”right” textalign=”right” width=”30%”style=”color: #ff6600;”]”My DNA held the secrets to my hormone and reproductive health problems”[/pullquote]

So what did I find out?  Ok so I’m a mutant – we all are – but wow it’s amazing what a ton`s of information can be extracted from those few cells they gathered.  While I found out lots of interesting information what I found to be the most amazing stuff is the information that validated my entire medical history.  It was the most profound “I told you so!” moment I’ve ever had.

All of this time, my DNA held the secrets to my hormone and reproductive health problems. 

I have 5 genetic variances that speak directly to my ovarian development and function, infertility, menstrual disorder, oligomenorrhea and anovulation, general hormone imbalance, risk of endometriosis and premature ovarian failure..  I have more that speak to my risk of thyroid disease, adrenal problems, metabolic disorder, type 2 diabetes and autoimmune disease.  And those recurrent miscarriages I had which elevate my risk for heart disease – it’s all there in my DNA too.

[pullquote align=”left|center|right” textalign=”left|center|right” width=”30%”]”I feel more empowered with the information than I ever have about my health”[/pullquote]

I don’t mean to oversimplify this stuff – it’s all pretty complicated and it’s not all black and white.  There are lots of factors that get taken into consideration, such as do you have a family history, do you carry one copy or two, is your particular variation ‘novel” (as in do other people have it too or are you a one in a million?), is it clinically characterized, etc.  And then there are the concepts such as penetrance and gene expression to bear in mind with lots of environmental and lifestyle factors that complicate matters. 

At the end of the day, I feel more empowered with the information than I ever have about my health. I have an action plan to screen for some of these items and now my children are already part way there now that I have some answers.  I am optimistic that their healthcare will be delivered so much differently then mine! 

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