From Roots to Action: How a Passion for Genealogy Led To Spreading Awareness of a Rare Disease

In her Washington D.C. apartment, Amy Palmer is clad in a bright red pullover. Her tight chestnut blonde curls are stretched back in a high bun. She sits close to her monitor and waves hello at the Zoom camera with an infectious smile. On her lap is Sandy, her salt and pepper Cyprus poodle, staring back at me with large black eyes while Palmer kisses his head with immense adoration.

Sandy adores her back by providing the emotional support to get her through health challenges she’s been facing the past decade. Although forced into early retirement from her diplomat job at the age of 41, Palmeris excited to discuss her passion that has also sustained her emotional well-being — genealogy and activism for a rare hereditary illness.

Growing up, Palmer knew she was Sicilian and Italian from her mother’s side of the family, and British and German from her father’s side. When she started to research her ancestry, she also discovered she was part Maltese and Jewish. She shares this while sitting comfortably at her granite kitchen countertop that she refers to as her “multi-purpose area” for dining and working on her projects. She emphatically tells me one story after another about her findings, like they were spilling from an epic saga captured in historical volumes and released.

Palmer’s passion for genealogy started when she was a child in Ohio.

“My grandfather kept these meticulous scrapbooks with newspaper articles and followed his family’s life very closely, and I grew up looking at those.” She holds her arms out wide vertically and horizontally to exhibit how big this book of clippings and family paraphernalia was. Her eyes widen, and she laughs while demonstrating the size of the book.

Around Palmer are boxes she hasn’t got around to unpacking since she moved to her D.C. apartment a year prior. This is her third apartment in D.C. within the last ten years, and she plans to move again. Palmeris used to living what she refers to as a “peripatetic existence” growing up. After Ohio, she lived in Indiana, New Orleans, and Texas before enrolling in a graduate program at the Wharton School of Business in Philadelphia. After earning her MBA and passing the foreign service exam in 2006, she was hired by the U.S. Department of State at age 31.

During a mission in Nicosia, Cyprus, working as a Human Rights and Trafficking-In-Persons Officer, her interest in family history piqued her curiosity in genealogy even further.

Palmer talks about her time in Cyprus with a lively nostalgia. I hear her voice go up a few decibels as her excitement rises. She doesn’t get into the specifics about her work, but talks more about her fascination and connection to the Mediterranean culture. 

“People would talk about going to their ‘grandparent’s village,’ and I thought, I want a grandparent’s village! I had this sense of rootlessness cause I moved around a lot as a kid, and [in Cyprus] people were very connected to their family. I was like, ‘I want that!’”

Still, it took a life-changing event to turn this curiosity and longing to find her village into a serious quest. 

It started in 2011 during a trip to the gynecologist who reported after drawing routine blood work that her cholesterol was extremely high. Like a flick of a switch, I see Palmer’s bright smile darken when she begins sharing this part of her life with me. Her head slightly droops, and the eye contact we were maintaining until then ceases as she describes the days that followed.

“After that, it seemed to kick off this horrific series of symptoms.” She talks about her triglycerides getting very high and her blood pressure skyrocketing. She developed a red round face and had gained a lot of weight in her belly. She describes the ephemeral pink stretch marks that would appear on her body as “the freakiest thing I’ve ever seen! They would be there one day and gone the next. It was like a monster had taken over my body.” She tripped and fell consistently, and the task of walking became arduous.

Then came the mood swings. “I was always a pretty cool cucumber at work, but I just started having emotional outbursts. Every last thing was on my nerves. I was just miserable.”

Thankfully, her one companion through it all was Sandy, who Palmer arranged to be trained as a service dog so that he could accompany her everywhere. 

After several trips to many specialists, Palmer was diagnosed with Cushing’s Syndrome—a disease that stems from high cortisol levels in the body.

“Too much cortisol is like battery acid—it corrodes the muscles and bones in your body as well as your internal organs,” Palmer explains. There was also nerve damage that caused consistent pain and fatigue.

The tumor causing the excess cortisol, as well as one of her adrenal glands, was removed. However, she went from having excess cortisol in her body to adrenal insufficiency. She depended on steroids for two years to live.

“I started to wonder, where did this disease come from? Is it my mom’s side? Is it my dad’s side?” And the curiosity about her biology birthed a new purpose.

“Genealogy was really one of the few things I could actually do while I was recovering. It was something where I could be mentally engaged, but I could put it aside when I needed to. I could sit and pore over records. It let me kind of explore.” Her face lights up again, the exuberant, boisterous giggle returns, and the eye contact through the Zoom camera resumes.  

Her research was done beyond ancestry.com. For her mother’s side of the family, she explored the Italian family history site, Antenati.com. She also went to 23andme for health and ancestry services, as well as to find a grave. She checked archives, visited the Presbyterian society and the Philadelphia Historical Society, and traveled to Europe to check their archives. She had made several discoveries regarding her lineage, such as the surprise she came from Maltese nobility, and that she was related to William Penn’s translator, connecting her knowledge of foreign languages to him.

Researching her ancestry distracted her from the pain she was feeling, and it gave her something to focus on. The more she learned about her family’s history, the more she believed she was getting better. She referred to this recovery as “ancestral healing,” but she never lost sight of her main purpose, which was to learn more about where her illness stemmed from.

In spite of all the obscure places she visited whether physically or virtually, for her specific health condition, Palmer did not need to travel farther than her parent’s house. She looked through her father’s family photo album and saw the visible symptoms in the pictures of the women in her family, going as far back as her great-great-grandmother. The images mirrored a lot that she witnessed happening in her own body, on and off for several years—the weight gain, the pink skin spots, the stretch marks, the moon face. She reached out to distant cousins, aunts and uncles.She probed them for information on what they remembered about the family members that have passed from similar complications. She concluded that none of these women were ever diagnosed.

“I felt validated,” she responds enthusiastically when I ask her how she felt when she made this discovery. “I could talk to my other family members and warn them if any of their daughters started to exhibit symptoms to get treated immediately.”

Palmer was also able to help family closer to her DNA. When her sister started exhibiting similar symptoms, she was diagnosed with a pituitary tumor and spared two years-worth of diagnostic testing.

Palmer feels relieved that she can help members of her family, but the injustice she felt from the medical community when symptoms started to emerge had her enraged. And many women,who she met at conferences and Facebook groups dedicated to Cushing’s Syndrome,shared their stories with her.

“It’s not just injustice; it’s abuse,” Palmer says. “So many women were written off as hysterical or crazy and having their symptoms dismissed.”

Palmer was no exception. During a visit to an endocrinologist before her diagnosis, she was told to lose weight and go vegan when she questioned her sudden weight gain. A connection through one of her support groups shared that medical staff treated her like she was drug-seeking upon entering the emergency room while experiencing an adrenal crisis. Another woman shared that she was expected to return to work a day after a surgical procedure to remove a tumor.

Palmer also observed that Cushing’s Syndrome was rare in men and mostly affecting women.

“I think that’s part of the problem, that it’s overwhelmingly [suffered by] women, and that’s why it’s not considered serious.”

Palmer participates in interviews on podcasts and radio stations, speaks at conferences, and sits on panels to bring more awareness to the disease.  There’s still not much known about Cushing’s Syndrome, and treatment is limited, but Palmer is making an effort to change that. She is applying to a medical device entrepreneur program to design devices for Cushing’s Syndrome. She would like to see a cortisol pump, meter, and emergency injection.

“All of them can be found for different illnesses; we just need to take the technology and translate it for the cortisol,”Palmer says smiling.

Palmer also wishes to tackle early diagnosis of the disease. She has already started working one-on-one with specialists to devise medical protocols.

Palmer feels blessed about having the downtime and the opportunity to conduct her genealogical research. She still exhibits mild symptoms of Cushing’s Syndrome but has learned to manage and live with them, understanding her limits.

She doesn’t desire to go back to a career in government, which she looks back on as a rewarding time in her life, but she has found genealogy and her activism for Cushing’s even more rewarding.

“Everyone deserves to know what their roots are. I find it fascinating. You could reject your family story, but you should at least know what it is. It’s a way to kind of access humanity,” says Palmer. Her eyes widen again—a sign I got to know that means she’s ready to tell me another anecdote of a great discovery.

Sandy and I are both intrigued with alacrity as he looks up at her, and I lean forward towards the monitor.