Kiera Davies is a physician, who struggles with chronic pain. She was not on disability and decided to pay for the pharmacogenetic test out-of-pocket through the Personalized Prescribing website.
The pharmacist spoke to Kiera to gather a comprehensive medication history. In her discussion with Kiera, the pharmacist learned that Kiera was diagnosed with Rheumatoid Arthritis (RA) in 2005 and was prescribed methotrexate with folic acid. Kiera was also prescribed Vimovo, which was a combination of an analgesic (i.e. Naproxen) and a stomach protectant (i.e. Esomeprazole), and she was taking
levothyroxine for a thyroid problem. In 2016, Kiera developed lower leg and foot fractures. Kiera decided to stop the methotrexate as she suspected that her medication may have contributed to the fractures, as is noted in the literature. Kiera continued to struggle with chronic pain. The pain was so severe that the patient exclaimed: “I wish I can cut my leg off!”.
After obtaining patient consent, the pharmacist ordered a pharmacogenetic test, and discovered that Kiera had a rare genetic variation in her MTHFR gene, which caused her to have a problem in converting folic acid to its active form. It is well known that Methotrexate can deplete folic acid levels. Physicians usually prescribe a folic acid supplement to prevent this deficiency. However, given that Kiera was not able to convert the folic acid in the supplement to its active form, she began to experience increased toxicities from the methotrexate (i.e. chronic bone inflammation and increased fracture risk). The pharmacist conducted research and discovered case studies in which supplementation with the active form of folic acid alleviated chronic pain for patients with the MTHFR variation. Kiera was also taking the stomach protectant (esomeprazole), and the pharmacist noted that this medication can deplete Kiera’s Calcium and B12 levels and further reduce her bone density.
The pharmacist scheduled a phone appointment with Kiera and explained to her the genetic findings. The pharmacist also provided a summary report, explaining the lab tests that would need to be ordered to further confirm the deficiency. A supplement (Leucovorin 10 mg once daily) was recommended as it contained the active form of folic acid. The pharmacist also recommended Calcium, Vitamin D and B12 supplementation and recommended spacing the Calcium supplement from the thyroid medication by at least 4 hours due to a potential interaction. Kiera found the pharmacists’ advice to be very practical and helpful, and she liked the summary report as it not only identified the problem but also provided solutions.
Given that Kiera is a physician herself, the pharmacist used medical language in her summary report, including the level of evidence used to support the recommendations as well as references. This is a unique case. Had the patient been referred to Personalized Prescribing through a disability management company, the pharmacist would have followed up with the disability manager to notify him/her that the test was complete and to share the medication recommendations.
The pharmacist followed up with Kiera a month later. Though Kiera was busy and was not able to answer the phone, she responded with the following feedback:
“I’m feeling great! I made the recommended changes and am now almost completely healed. Finally! I am spreading the word to my colleagues who think it’s a great idea for those with chronic disorders. Thank you for touching base. – Kiera”