Case #20: Kelly
Symptomatic: A Medical Mystery Podcast
Deep Dive
Why did Kelly's health issues start manifesting in her early 30s?
Kelly's health issues began with severe heartburn, which was later diagnosed as a hiatal hernia. This was followed by rapid weight gain and other unexplained symptoms.
Why did Kelly undergo brain surgery?
Kelly underwent brain surgery to remove a small tumor on her pituitary gland, which was suspected to be causing her symptoms like weight gain and excessive sweating.
Why did Kelly feel trapped within her own body?
Kelly felt trapped within her own body because her rapid weight gain and other symptoms made her unrecognizable to herself and affected her mental well-being and self-esteem.
Why did Kelly's brain surgery not solve her problems?
The brain surgery did not solve Kelly's problems because she was misdiagnosed with acromegaly. Post-surgery, her symptoms continued and even worsened.
Why did Kelly decide to go to the Mayo Clinic?
Kelly decided to go to the Mayo Clinic because she was determined to find concrete answers after multiple surgeries and relentless symptoms, and she believed the Mayo Clinic could offer her hope and a definitive diagnosis.
Why did pharmacogenomics testing provide a breakthrough for Kelly?
Pharmacogenomics testing revealed that Kelly had multiple polymorphisms, which explained why she was experiencing severe side effects from certain medications. This breakthrough helped her find the true cause of her health issues.
Why did Kelly's weight loss after the genetic testing indicate a successful treatment?
Kelly's weight loss after the genetic testing indicated a successful treatment because the new genetic data allowed her doctors to adjust her medications, which had been causing her weight gain and other symptoms.
Why did Kelly ensure her family members also got pharmacogenomics testing?
Kelly ensured her family members got pharmacogenomics testing to prevent them from experiencing similar health issues and to better understand their genetic predispositions to medication responses.
Why did Kelly's story inspire her doctors?
Kelly's story inspired her doctors because her determination and advocacy for herself led to a better understanding of pharmacogenomics testing, which they can now apply to help other patients.
Why is pharmacogenomics testing important for the future of medicine?
Pharmacogenomics testing is important for the future of medicine because it can help identify how individuals metabolize medications, leading to more personalized and effective treatments and reducing the risk of side effects.
Shownotes Transcript