Mercies in Disguise

Mercies in Disguise: A Story of Hope, a Family's Genetic Destiny, and the Science That Rescued Them
By Gina Kolata (2018)

If your family had a disease that caused significant illness or early death, would you want to find out if you carried the fatal gene?

This remarkable book follows the Baxley family of Hartsdale, South Carolina. It is a medical mystery, beautifully told by Gina. Kolata. The family harbors a mutant gene that causes a progressive neurological disease (GSS). There is science, there is genetics, there is medical ethics, there are questions of faith, and how individuals in their families can react to this life altering realities.

 In Mercies in Disguise, acclaimed New York Times science reporter tells the story of the Baxleys, an almost archetypal family in a small town in South Carolina. A proud and determined clan, many of them doctors, they are struck one by one with an inscrutable illness. They finally discover the cause of the disease after a remarkable sequence of events that many saw as providential. Meanwhile, science, progressing for a half a century along a parallel track, had handed the Baxleys a resolution―not a cure, but a blood test that would reveal who had the gene for the disease and who did not. And science would offer another dilemma―fertility specialists had created a way to spare the children through an expensive process.

A work of narrative nonfiction,     this is the story of a family that took matters into its own hands when the medical world abandoned them. It’s a story of a family that had to deal with unspeakable tragedy and yet did not allow it to tear them apart. And it is the story of a young woman―Amanda Baxley―who faced the future head on, determined to find a way to disrupt her family’s destiny.

The Lady’s Handbook for Her Mysterious Illness

 Sarah Ramey’s book, The Lady’s Handbook for Her Mysterious Illness (2020), was an eye-opener for me.  I asked Chat-GPT for a precise of WOMI.  Here it is, as I edited it.  

"WOMI: Woman with Mysterious Illness" while not a defined entity,  refers to the phenomenon where women experience undiagnosed or misdiagnosed medical conditions. This is an issue many women face, often due to biases in medical research and practice.

Synopsis: Many women suffer from health issues that are not easily diagnosed, sometimes leading to prolonged periods of uncertainty and inadequate care. These mysterious illnesses can include chronic fatigue syndrome, fibromyalgia, autoimmune disorders, and more, which are often under-researched or not fully understood. The experience of dealing with these conditions can be frustrating and emotionally taxing for both patients and healthcare providers.  A smaller number of these patients are Men with Mysterious Illness (MOMI).

Greater awareness and more dedicated research into women's specific health concerns can lead to better understanding and treatment options.
1. Education and Training: By educating healthcare providers about potential biases and the need for a more holistic approach, care can be improved.
2. Listening to Patients: Encouraging open communication and actively listening to women's experiences can help build trust and lead to more accurate diagnoses.
3. Advocacy: Supporting initiatives that advocate for women's health can lead to policy changes and increased funding for research.
4. Empathy and Support: Understanding the emotional impact on patients can foster empathy and provide the support they need during their health journey.


For Patients: Understanding WOMI can empower women to advocate for themselves, seek second opinions, and gain more control over their healthcare journey. -

For Providers: Understanding the concept of WOMI offers an opportunity to improve diagnostic accuracy, cultivate better patient relationships, and provide personalized care.

By fostering a more inclusive and attentive healthcare environment, both patients and providers can benefit from a more effective and compassionate approach to dealing with mysterious illnesses.

[I took notes on The Lady’s Handbook for Her Mysterious Illness and will share the pdf with anyone who is interested. DJE]

A Body Made of Glass

 A Body Made of Glass: A Cultural History of Hypochondria
by Caroline Crampton

As a physician, this book is of great import.  If you want to see my notes on the book, go to A Body Made of Glass and I can give you access.

From Harper Collins' website:

Part cultural history, part literary criticism, and part memoir, A Body Made of Glass is a definitive biography of hypochondria.

Caroline Crampton’s life was upended at the age of seventeen, when she was diagnosed with Hodgkin’s lymphoma, a relatively rare blood cancer. After years of invasive treatment, she was finally given the all clear. But being cured of the cancer didn’t mean she felt well. Instead, the fear lingered, and she found herself always on the alert, braced for signs that the illness had reemerged. 

Now, in A Body Made of Glass, Crampton has drawn from her own experiences with health anxiety to write a revelatory exploration of hypochondria—a condition that, though often suffered silently, is widespread and rising. She deftly weaves together history, memoir, and literary criticism to make sense of this invisible and underexplored sickness. From the earliest medical case of Hippocrates to the literary accounts of sufferers like Virginia Woolf and Marcel Proust to the modern perils of internet self-diagnosis, Crampton unspools this topic to reveal the far-reaching impact of health anxiety on our physical, mental, and emotional health.

At its heart, Crampton explains, hypochondria is a yearning for knowledge. It is a never-ending attempt to replace the edgeless terror of uncertainty with the comforting solidity of a definitive explanation. Through intimate personal stories and compelling cultural perspectives, A Body Made of Glass brings this uniquely ephemeral condition into much-needed focus for the first time.

Chronic Itch Is Miserable

Journalist Annie Lowrey suffers from primary biliary cholangitis (PBC), a degenerative liver disease in which the body mistakenly attacks cells lining the bile ducts. The result is a severe itch that doesn't respond to antihistamines or steroids.

 
This 45 minute November 12, 2024 NPR Fresh Air interview is a great introduction to the topic of Itch.

It is based on Ms. Lowrey's October 2024 The Atlantic Article, " Why People Itch, and How to Stop It."

What Does It Feel Like?

 by Sophie Kinsella

 BLOODY, BRILLIANT
            BRITISH!

This book is Ms. Kinsella's glioblastoma multiples (GBM) pathography told as a roman a clef.  It is a poowerfull story that is well-worth the time spent reading its 144 pages book or listening to the 2 hour audio version.  Kinsella's journey illustrates the classical illness trajectories* of GBM patients: physical, psychological, spiritual and social.

When she writes, "All my words disintegrated in my brain" one can appreciate that and feel for her.

Kinsella was diagnosed with GBM in December 2022.  A recent Instagram post from her contains this paragraph:

To everyone who is suffering from cancer in any form I send love and best wishes, as well as to those who support them. It can feel very lonely and scary to have a tough diagnosis, and the support and care of those around you means more than words can say.

All care providers, and some patients, will benefit from engaging with "What Does It Feel Like?"

* Scott A. Murray. Social, psychological and existential well-being in patients with glioma and their caregivers: a qualitative study,  CMAJ. 2012 Apr 17;184(7):E373–E382. PMC

Be Mine by Rishard Ford

from Good Reads: [with] "Be Mine" Richard Ford has crafted an ambitious, incisive, and singular view of American life as lived. Unconstrained, astute, provocative, often laugh-out-loud funny, Frank Bascombe is once more our guide to the great American midway.

Now in the twilight of life, a man who has occupied many colorful lives--sportswriter, father, husband, ex-husband, friend, real estate agent--Bascombe finds himself in the most sorrowing role of all: caregiver to his son, Paul, diagnosed with ALS. On a shared winter odyssey to Mount Rushmore, Frank, in typical Bascombe fashion, faces down the mortality that is assured each of us, and in doing so confronts what happiness might signify at the end of days.

In this memorable novel, Richard Ford puts on displays the prose, wit, and intelligence that make him one of our most acclaimed living writers. Be Mine is a profound, funny, poignant love letter to our beleaguered world."

  From a  medical point of view, this book is a picture of a family dealing with ALS.  Bascom finds himself as care giver to his son. Most of the book takes place at the Mayo Clinic and there are many memorable scenes in and around Rochester, MN..  Ford, I believe, was a patient there when he was being treated for prostate cancer.  I thoroughly enjoyed this book and learned a bit about care giving from it.

In My Time Of Dying

In My Time Of Dying: How I Cane Face-To-Face With The Idea Of An Afterlife

by Sebastian Junger (2024)

 

 This is the pathography of the author who had a near death experience (NDE) after the rupture of a pancreatic artery.  His medical problem was probably the result of a pancreaticoduodenal artery aneurysm (PDAA), which is often associated with celiac axis stenosis caused by median arcuate ligament syndrome (MALS).

 

Junger is a well-known writer, and the book is quite interesting. However, for me, The In-Between was more instructive about NDEs. Junger's book has many useful references and the Vlados book has none.

 

If you want to see my notes, I put them on GoogleDocs. Just email me and I'll send you a link.