Podcast Summary: Symptomatic: A Medical Mystery Podcast – "You Might Also Like" Episode

Introduction

In this compelling episode of Symptomatic: A Medical Mystery Podcast, host Lauren Bright Pacheco delves deep into the challenging medical journey of Kelly Dubois. Kelly's story is a poignant exploration of chronic illness, misdiagnoses, and the relentless pursuit of answers within the medical system. This summary captures the essence of Kelly's experiences, the insights shared by her husband Chuck Dubois, and the expertise of Dr. Eric Matei from the Mayo Clinic.

Kelly's Early Health Struggles

Kelly Dubois's health challenges began unexpectedly in her early adulthood, a stark contrast to her previously healthy life.

• Initial Symptoms:

  • "I was very healthy my entire life up until this happened." (00:18)
  • At 16, Kelly started experiencing migraine headaches, a condition prevalent in her family. Despite trying various medications, effective relief remained elusive.
  • "I was awake for two days with a headache, or they would knock me out and I would sleep." (03:02)

• First Pregnancy Complications:

  • During her first pregnancy, Kelly developed heartburn and was diagnosed with a hiatal hernia.
  • "I had a hiatal hernia. So the sphincter ends up failing at the base of the esophagus..." (04:48)
  • This led to rapid weight gain, prompting concerns from both Kelly and her husband.

Impact on Personal Life and Mental Health

Kelly's physical symptoms took a significant toll on her mental well-being and family life.

• Emotional Toll:

  • "I was in so much pain. And then all these symptoms built up and it just so unwell feeling. It's almost like I was a different person." (06:32)
  • Her husband, Chuck, observed the changes in her demeanor and self-perception.
  • "She started not wanting to have her pictures taken... She didn't want to remember those moments." (06:15)

• Family Dynamics:

  • Despite her struggles, Kelly and Chuck maintained a strong family bond.
  • "I have a wonderful husband who helps with my kids. Very fortunate, thank God." (11:18)

The Quest for Diagnosis

Kelly's journey through the medical maze highlights the complexities and frustrations of seeking a correct diagnosis.

• Misdiagnoses and Surgeries:

  • Initially suspected of having a pituitary tumor, Kelly underwent brain surgery to remove what was believed to be a tumor on her pituitary gland.
  • "What they Found in the radiology report was a very small 3-4-millimeter tumor." (08:43)
  • Post-surgery, Kelly faced additional health setbacks, including kidney stones and a benign breast mass.

• Continued Symptoms:

  • Despite interventions, Kelly's symptoms persisted and worsened.
  • "Hyperhidrosis got worse, the flushing got worse, the body wide pain." (15:59)
  • Cognitive issues like brain fog compounded her challenges.
  • "I was trapped within my own body, basically." (06:59)

Breakthrough at Mayo Clinic

After years of uncertainty, Kelly found hope at the Mayo Clinic, where Dr. Eric Matei played a pivotal role in her diagnosis.

• Pharmacogenomics Testing:

  • Dr. Matei specializes in pharmacogenomics, the study of how genetics affect an individual's response to medications.
  • "He suggested pharmacogenomics testing to take a closer look at her genes and how they were interacting with the treatments." (24:30)
  • Through genetic testing, it was discovered that Kelly had multiple polymorphisms affecting her medication metabolism.
  • "I had more than seven. This would explain why you feel so unwell with all these medications." (26:14)

• Tailored Treatment:

  • Armed with genetic insights, Kelly and her medical team could adjust her medications appropriately.
  • "Between January 2016 and July 2016, we adjusted my meds based on the new genetic data we had. And without exercising or changing my diet, I lost 50 pounds." (28:48)

Recovery and Advocacy

Kelly's successful diagnosis and treatment not only restored her health but also transformed her into an advocate for pharmacogenomics.

• Restoration of Health:

  • Significant weight loss and symptom relief marked Kelly's return to her former self.
  • "I lost 50 pounds... and in the following year, I lost another 20 pounds." (28:48)

• Impact on Family and Healthcare:

  • Kelly ensured that her family members underwent pharmacogenomics testing to prevent similar issues.
  • "Everyone who's related to me has had pharmacogenomics Testing now, and my husband has, too." (31:10)
  • Her advocacy influenced her doctors, emphasizing the importance of listening and collaboration in patient care.
  • "They said, thank you... we're better doctors because of you." (32:18)

Future Implications and Hope

Dr. Matei discusses the future of pharmacogenomics and its potential to revolutionize personalized medicine.

• Preemptive Testing:

  • "Our hope is that we could have preemptive pharmacogenomic testing whereby every patient that walks into a clinic will have pharmacogenomic testing." (33:14)
  • This approach aims to tailor medications from the outset, minimizing adverse reactions and enhancing treatment efficacy.

• Educational Resources:

  • Dr. Matei highlights resources like the Clinical Pharmacogenomic Implementation Consortium (CPIC) for patients and practitioners.
  • "They provide a lot of great guidelines for both patients and I think practitioners." (33:14)

Closing Thoughts

Kelly Dubois's journey underscores the critical role of personalized medicine and the need for ongoing advancements in genetic testing. Her resilience and proactive approach not only healed her but also paved the way for improved patient care practices.

• Chuck Dubois's Reflections:

  • "She started reading it, and then she's looking at the drug interactions... it's all stemming from the heartburn." (26:38)

• Kelly's Final Message:

  • "If you know you're sick, whether it's the issue I have or some other issue and you genuinely know there's something wrong with you, work to figure it out." (34:53)

Conclusion

This episode of Symptomatic is a testament to the power of perseverance in the face of medical adversity. Through Kelly's story, listeners gain insight into the complexities of chronic illness, the importance of patient advocacy, and the promising future of pharmacogenomics in personalized healthcare.