Pharmacogenetics in the Community Pharmacy | Drug Topics

Another great little article on the future of pharmacy and the value of Pharmacogenetics testing. Worth the read to learn how patients benefit from testing which medications work and which ones don’t work with their genetics.

Mark Dunnenberger, PharmD, Program Director for Pharmacogenomics at the NorthShore Center for Personalized Medicine said, “It can bring a lot of value to the patient.”

Read on…

Pharmacogenetics is moving into the community pharmacy. A patient’s DNA sample is taken in the pharmacy, sent to a lab, and in a couple of weeks, the patient, pharmacist, and health-care provi

Source: Pharmacogenetics in the Community Pharmacy | Drug Topics

A Sickly 25 Year Old Woman Requests Diagnoses Guidance & Expertise…

As a member of the biomedical and general health care community, I tend to receive a large amount of healthcare-related questions, usually centered around enabling physicians to increase their personalized care or enhancing the delivery of precision medicine. Rarely are the questions direct or clinical in nature, like the message that follows below. Please read below about the current health predicament of a 25-year old woman whom I know personally. Please feel free to provide any input from your knowledge or experience that may be beneficial to her health diagnoses and treatment. There are no names or identifying characteristics (to comply with HIPAA), and I have left her message in first person to preserve her details.

“I am 25 years old and my health is disintegrating on a daily basis. I am reaching out to friends in the healthcare field to see if anyone can lend a hand on suggested diagnoses or treatments for my “unknown” illnesses.

I was basically a healthy person until December 2011 when I got back from a study abroad trip (visiting Portugal, Spain, France, Italy, England, and Ireland). My first symptom led to a diagnosis of Costochondritis – I woke up one morning thinking I was having a heart attack. Despite everything from steroids to physical therapy to different anti-inflammatories, I’ve had severe Costochondritis that gets progressively worse every day since December 2011.

My symptoms started building one at a time since that winter, and many of them have continued to get more and more severe, especially the chronic pain and chronic fatigue, which have become basically completely debilitating at this point. This summer I had to leave NYC and move back in with my family because I was too sick and could no longer take care of myself. Last week, I couldn’t even sit through a movie in a theater because my pain level and exhaustion was so bad. I am deteriorating rapidly at a young age and I don’t know why!

I was officially diagnosed with Fibromyalgia almost two years ago. At the time, I accepted it and was happy to have a diagnosis and known medications. However, the way my symptoms are escalating, plus some outlying symptoms, makes my doctors think it’s something other than Fibro, or something that’s causing the Fibro symptoms. I did have blood tests for every autoimmune disease you can name, and they all came back negative. My other bloodwork has come back within range on all of the components tested, except I do have a constantly high HSCRP rate (it’s been in the 8-10 range for years), a very low CPET score (39% – tested two times over a couple of years), as well as low amino acid production.

This past Saturday, for the first time, I landed myself in the ER because I was so sick (pain levels out of control and had been trouble getting nutrition in for over a week), but they couldn’t do much but rule out that I wasn’t dying. They suggested an infectious disease doctor, and my other doctors have suggested a geneticist (as they think something mitochondrial might be going on).

I’m a 25-year-old female, 5’2″, and weigh 120 pounds. Here is a list of my current symptoms:

  • Costochondritis
  • Hypothyroidism
  • Raynaud’s Syndrome (or poor circulation – doctors disagree which it is?)
  • Frequent Urination
  • Constant Thirst
  • Chronic Fatigue
  • Insomnia
  • Anxiety
  • TMJ
  • Chronic headaches
  • Sometimes blurry / unfocused vision
  • IBS
  • Lower Back Pain
  • Upper Back Pain
  • Pain in knee and ankle joints
  • Lightheaded
  • Trouble breathing / heart palpitations, especially when I even go up even half a flight of stairs (this never happened before my symptoms started)
  • Trouble breathing / heart palpitations when I eat / lie down
  • Dizzy when I stand up quickly

More recently (started in past month):

  • All joints cracking constantly
  • White, fuzzy tongue
  • Chapped lips (I’m hydrated)
  • Leg Pain, Arm Pain, Neck Pain, Armpit Tenderness (basically pain everywhere)
  • Extreme Nausea
  • Constant Bowel Movements (So trouble eating & trouble keeping food in)
  • Unknown allergic reaction to something (skin breaking out / itching all over)
  • Unintentional Weight Loss (I’ve lost 15 pounds in 5 months)

I keep getting passed around from specialist to specialist because my symptoms are classified as vague or non-specific, and because they cross over so many unique care categories.

I’d love to hear any and all ideas you have – what you think might be wrong, what you think I should get tested for, physicians or clinics you’d recommend, literally anything!”

Please post a reply or send me a message if you have any ideas or suggestions about her ongoing health crisis. Thank you in advance for your time.