• PTSD: Nina’s Story

    PTSD genes

    Every genetic ‘illness’ is a mismatch between an organism’s genome and its environment. In some cases the appropriate medical intervention to mitigate a disease might be to alter the environment.

    - Siddhartha Mukherjee, M.D.

  • PTSD: Nina’s Story

    Nina entered my office sobbing. She had been date-raped a few weeks earlier and had been referred to see me by a good friend of hers, Chelsea, who was a former patient of mine. Chelsea had left me a voicemail that Nina would be calling, so I already knew some of the details of what had happened to her. This first semester college sophomore was crying so hard she could barely breathe as I sat there in silence, looking at her with the deep sadness in my eyes that emanated from my heart. Before too long I said to her, “Nina, Chelsea left me a voicemail about what was done to you, and I am so sorry this happened. When you feel ready, I am here to listen to your story.” When she was ready, she began to tell me her sad, horrifying tale. After allowing the gravity of her words to sink in, I explained she was suffering from PTSD and depression. A genetic test would allow me to prescribe the best medication for Nina’s specific genetic makeup, taking out all the guesswork of the more typical trial-and-error process of prescribing medicine. In addition, we’d meet for therapy once a week.

    Nina’s Genecept Assay results revealed interesting variants on her SLC6A4, COMT, CYP2D6, and CYP2C19 genes. The pharmacotherapy of PTSD has the most studies supporting the use of SSRIs, and yet Nina’s SLC6A4 variant predicted a much higher rate of side effects and lack of effectiveness for this class of medications. An SNRI was therefore a better choice, and I settled on Desvenlafaxine (Pristiq) which is Venlafaxine (Effexor) after it passes through the liver. I also placed her on N-acetylcysteine (NAC) and Vitamin D to address her COMT Met/Met variant. Many of Nina’s acute symptoms in response to the rape began to resolve after one month on Desvenlafaxine, NAC and Vitamin D. This was a good place to start from a pharmaceutical standpoint—but I worried about the longer-term effects of her SLC6A4 and COMT variants on her PTSD, as both predict a more severe response to trauma.

    Nina had two short alleles on her SLC6A4 gene. This genotype confers increased “serotonergic tone” (too much serotonin) in her amygdala, where fear responses are processed, and thus she would have a higher than average fear response and greater response to stress, including a greater release of cortisol, with higher rates of anxiety and depression in response to traumatic stress. Conversely, she would thrive in a low stress environment, even flourish. In other words, Nina’s genes made her an “orchid”. Someone who is a “Dandelion” has a different genotype, and can therefore survive in higher-stress environments. To add to Nina’s vulnerability, her COMT Met/Met variant would exacerbate the effects of her SLC6A4 gene. This variant is associated with “dopamine flooding” of the frontal lobe under stress, which results in increased anxiety levels and cognitive perseverating (ruminating over and over again about things)—also resulting in a higher stress response. Nina’s very genes played a role in the way she felt in the moments, days, and weeks after her trauma. It wasn’t Nina’s fault—far from it. However, understanding her genetic profile meant we could specifically address her personal genome in a way that could bring about a better outcome for her.

    Over the 30 months we worked together, I helped her work through filing a complaint against the rapist, surviving two hearings (one at her school and one in court), and unwinding the murderous effects of the rape on her heart, her soul, and her self-esteem. Understanding her sensitivities to toxic social environments, Nina left her sorority, which was filled with largely unempathetic, self-aborbed women, and began working began working at a senior living center that was known for its caring culture for both residents and staff members.

    Genetic testing to determine whether you are an “orchid” or a “dandelion” can help you understand why your reaction to trauma may differ from others around you. And it can certainly help doctors place you on treatment plans that will slowly allow you to mend.

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