Symptomatic: A Medical Mystery Podcast - Case #20: Kelly

Host: Lauren Bright Pacheco
Release Date: October 22, 2024
Produced by: iHeartPodcasts

Introduction to Kelly Dubois

In the poignant episode titled "Case #20: Kelly," host Lauren Bright Pacheco delves into the harrowing medical journey of Kelly Dubois. Kelly's story epitomizes the struggles faced by countless Americans battling chronic illnesses without clear diagnoses. From relentless symptoms to life-altering surgeries, Kelly's quest for answers underscores the complexities of navigating the healthcare system.

Kelly Dubois: A Determined Individual

Kelly Dubois is portrayed as an intelligent, driven, and analytical person who embodies resilience. Her determination to uncover the root of her health issues is evident throughout her narrative.

Kelly Dubois [00:09]: “It took a couple of years until more symptoms started. I look back at pictures of me now, and it's hard to even recognize myself.”

Her analytical nature not only aids her in her personal battles but also becomes a crucial asset in her interactions with medical professionals.

Early Health Challenges

Kelly's health issues began in her teenage years with migraine headaches, a condition prevalent in her family. Despite various medications, her migraines persisted, signaling that something more profound was amiss.

Kelly Dubois [03:17]: “I was very healthy my entire life up until this happened. But when I look back when I was 16, I started getting migraine headaches.”

These early signs were the precursors to more severe health challenges that would surface in her adulthood.

Escalation of Symptoms and Misdiagnoses

As Kelly transitioned into her thirties, new symptoms emerged, including heartburn and sudden weight gain, exacerbated by a hiatal hernia. Despite consulting her primary care physician, her concerns were initially dismissed as common metabolic slowdowns post-pregnancy.

Kelly Dubois [05:11]: “I almost immediately start gaining weight, like 10 pounds a month weight. And I go to talk to my doctors. I'm like, there’s something wrong.”

Her husband's account further illustrates the emotional toll these symptoms took on her and their family.

Chuck Dubois [05:34]: “She was a trooper.”

The Neurosurgery and Its Aftermath

In an attempt to address her escalating symptoms, Kelly underwent surgery to remove a purported pituitary tumor. The procedure, however, led to complications, including a spinal fluid leak and prolonged recovery in the brain ICU.

Kelly Dubois [13:15]: “I remember waking up in my room and the person standing above me was actually my neurosurgeon. I was in the brain ICU.”

This traumatic experience only deepened the mystery surrounding her condition, as her symptoms lingered and new ones appeared, such as severe hyperhidrosis and cognitive issues.

The Unraveling Mystery: Polymorphisms

After years of unexplained symptoms and multiple medical interventions, Kelly reached a breaking point. Her relentless search for answers led her to the Mayo Clinic, where Dr. Eric Matei introduced her to the world of pharmacogenomics.

Dr. Eric Matei [23:26]: “When Kelly came in and talked about the medications that she was on... we could see into the future, right?”

Pharmacogenomics, the study of how genes affect a person's response to drugs, became the key to unlocking Kelly's medical enigma. Genetic testing revealed that Kelly had multiple polymorphisms affecting how her body metabolized medications.

Kelly Dubois [24:51]: “I keep saying the word polymorphism. Polymorphism. Polymorphism.”

These genetic variations explained why standard treatments had been ineffective or even detrimental, shedding light on her prolonged suffering.

The Breakthrough at Mayo Clinic

Under Dr. Matei's guidance, Kelly underwent pharmacogenomic testing, which identified several genetic mutations impacting her medication metabolism. This revelation allowed her medical team to tailor her treatment regimen effectively.

Dr. Eric Matei [27:16]: “Once she realized that it wasn’t in her head, it was her genes, that by itself led to a relief.”

Gradually tapering off ineffective medications and introducing alternatives based on her genetic profile led to remarkable improvements in her health.

Kelly Dubois [28:48]: “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.”

Life After Diagnosis: Recovery and Impact

Post-diagnosis, Kelly experienced significant weight loss and a resurgence of her former self, both physically and mentally. Her recovery was not just a return to health but a transformation in how she engaged with her medical care.

Kelly Dubois [29:02]: “And in the following year, I lost another 20 pounds.”

Her newfound health also had a profound impact on her family dynamics and her daughters' approach to healthcare, emphasizing the importance of patient advocacy and informed medical decisions.

Lessons Learned and Future Implications

Kelly's journey highlights the critical role of personalized medicine and the potential of pharmacogenomics in transforming patient care. Dr. Matei envisions a future where pharmacogenomic testing is standard, allowing for preemptive adjustments in treatment plans based on genetic profiles.

Dr. Eric Matei [33:14]: “Our hope is that we could have preemptive pharmacogenomic testing whereby every patient that walks into a clinic will have pharmacogenomic testing.”

Kelly emphasizes the necessity for patients to be proactive in their healthcare, advocating for themselves, and utilizing available resources to seek answers.

Kelly Dubois [34:33]: “If you know you’re sick... work to figure it out. What’s invaluable is that we do have the Internet and there are lots of valuable resources out there.”

Her story serves as a beacon of hope and a call to action for both patients and healthcare providers to embrace the advancements in genetic testing to prevent misdiagnoses and ineffective treatments.

Conclusion

Kelly Dubois's medical odyssey underscores the intricate interplay between genetics and disease management. Her unwavering determination not only led to her personal healing but also paved the way for broader conversations about the importance of pharmacogenomics in modern medicine. "Case #20: Kelly" is a testament to the power of persistence, informed advocacy, and the evolving landscape of personalized healthcare.

Notable Quotes:

• Kelly Dubois [00:09]: “It took a couple of years until more symptoms started. I look back at pictures of me now, and it's hard to even recognize myself.”

• Dr. Eric Matei [23:26]: “When Kelly came in and talked about the medications that she was on... we could see into the future, right?”

• Kelly Dubois [24:51]: “I keep saying the word polymorphism. Polymorphism. Polymorphism.”

• Dr. Eric Matei [27:16]: “Once she realized that it wasn’t in her head, it was her genes, that by itself led to a relief.”

• Kelly Dubois [34:33]: “If you know you’re sick... work to figure it out. What’s invaluable is that we do have the Internet and there are lots of valuable resources out there.”

Kelly's story is a powerful reminder of the importance of personalized medicine and the need for continuous advancements in healthcare to cater to individual genetic profiles. Her experience advocates for a more informed and proactive approach to health, ensuring that patients receive treatments that are truly effective for their unique genetic makeup.