Fearless 2.22.21: Living with a rare disease

Hi, all, and happy Monday! I hope you all had a great weekend and were able to go outside without feeling as though your lungs were freezing over. Only 26 days until spring!

Today is the last edition of the month, which means we’re wrapping up our topic of health care. To finish us off, I wanted to make sure we did something to shed light on Rare Disease Day, which is Feb. 28. Claire Richmond wrote a guest essay about her experience being diagnosed with acute hepatic porphyria, a condition that affects only 10 out of every 1 million people in the U.S. It's long, but I promise you, it's worth it. Max Mowitz has the guest opinion piece of the week and talks about gender-affirming care. And, if you missed my colleague Michael Crumb’s story on the child care cliff here in Iowa, you’ll find an excerpt of that below, too.

-Emily Blobaum, Fearless editor

P.S. I’m still looking to tell the stories of women who have either voluntarily left the workforce as a result of the pandemic or have filed for unemployment at some point in the last year. If you or someone you know would like to share your experience, please email me at emilyblobaum@bpcdm.com.

I pressed my ear to the phone and sensed my life splitting, cleaving cleanly in two: the time before I had a name for my illness, and the time after. Until that phone call, I had been convinced I was slowly slipping into madness.

For 19 years, I was the person with the mysterious symptoms, who received brushoffs from specialists in the form of misdiagnoses that only explained fragments of my discomfort. I was the healthy-looking woman who ran long distances and smiled through the pain, whose complaints were heartbreakingly dismissed as mental illness. To avoid additional medical trauma, I learned to hide my symptoms from everyone, until I became the woman with the deep dark secret.

On the other end of the phone line was the first-year resident assigned to my case. He was on rotation at the Mayo Clinic, where I’d been referred after a series of recent hospitalizations left doctors in the Des Moines metro area perplexed. In the final days of a monthslong diagnostic process, he ordered a test for an extremely rare and painful disease. He assured me I would not have it.

When I left the hospital, he bade me farewell, convinced we would never speak to each other again. He told me not to expect a call from him, that he would only dial my number if the test came back positive. Two days later, we were on the phone. "It’s acute hepatic porphyria," he said.

In that instant, his words blasted through nearly two decades’ worth of shame that had woven itself tightly around my heart. With each dismissal by a medical professional, I collected a strand of doubt. After repeatedly hearing that my symptoms were in my head, I braided in self-doubt of my own. Over the years, it became a blanket I carried around, so heavy it prevented me from speaking up confidently about my pain, and impeded my ability to advocate for my well-being. I could hide under it. I could wrap it tightly around myself in an effort to conceal my shame.

AHP is a life-threatening, rare blood disease that affects the nervous system, leading to episodes of extreme pain, vomiting, muscle weakness, insomnia, brain fog, reddish urine and paralysis. When undiagnosed and untreated, it can manifest in chronic symptoms. It affects approximately 10 out of every 1 million people in the United States.

The resident I saw read about AHP in preparation for a recent medical school exam. He said no patient had been diagnosed with it in their department before, and admitted that’s why the medical team didn’t think of it sooner.

Over the years, I’ve been tested for so many conditions that I’ve lost count; to name a few, Crohn’s disease, ulcerative colitis, allergies, pelvic floor dysfunction, gallbladder disease, endometriosis, intestinal infections, intussusception, fibromyalgia, hypothyroidism and kidney stones. Each time they came back with the same result: normal. Turns out, there exists one single test that would ever show an abnormality for AHP, and it took nearly two decades for a doctor to suggest it.

It was as simple as a urine test, measuring the values of porphobilinogen and aminolevulinic acid, natural byproducts of the liver’s heme production. In a healthy person, porphyrin levels are less than one. Mine were through the roof, at over 1,000. I have an extra enzyme that translates to my liver’s heme production process being damaged. After additional fecal and genetic testing, I was confirmed to have acute intermittent porphyria.

Listening to my doctor explain the symptoms of AHP, my brain buzzed in connecting dots throughout my life. When I was 14, an onslaught of back and limb pain pulled me out of dance class and kept me bedridden for a week. The back and shoulder pain became chronic. I began to see a rheumatologist and endured the stigma of being a teen with unnamed chronic pain that would keep me from succeeding in high school or sleeping at night.

When I was 21, I experienced severe abdominal pain for weeks and my urine turned a warm shade of fuchsia. The school nurse explained it away as blood from a kidney stone rolling around in my bladder. In my mid-20s, stomach pain and gastro paresis prevented me from eating regularly and I developed an eating disorder. When I was 31, I ran a half marathon and threw up for days after.

Over the phone, I learned what caused porphyria attacks. Triggers that precipitate attacks vary from patient to patient and include hormones, alcohol, stress, certain medications and a low-carb diet. Understanding dawned on me. Now that I had a better idea of what precipitates a porphyria attack, snapshots of my past flashed through my mind.

Getting my period as a teen, before spending hours curled around the toilet, nauseous. Drinking cocktails at a comedy club, followed by a sleepless night of abdominal pain. Days into a low-carb diet trend led to an abdomen so distended that I appeared several months pregnant.

My untreated porphyria blurred the lines between attacks, until I was having symptoms or endured some level of attack nearly every day. A baseline of anxiety became the norm. I prided myself in going to work sick, becoming involved in the community despite being in excruciating pain at events and meetings. I normalized chronic illness until it was a poison in my veins. I began to resent others who could run faster and farther than me without doubling over. I judged people who would take time off for illness, while I quietly endured unspeakable amounts of discomfort without taking a break.

I numbed out, learning that pushing through my pain not only helped me ignore it, but was glorified by a society that mistakes disassociation with strength. As I distanced my mind from physical being, it became harder to notice symptoms shift and I learned I couldn’t trust my body. In exam rooms, I minimized my discomfort, unable to adequately convey the severity of symptoms or their impact on my quality of life.

I went through periods of adulthood when I actively searched for answers. Overall, I saw more than 20 specialists in five states. Living in a medical limbo is heartbreaking, exhausting and demeaning. After a few months, I would hit a dead end and resign myself to a life of mysterious pain.

When I was 32, I thought by adjusting my diet I could address the pain I figured must have something to do with what I ate. I quietly removed most carbs and grains from my diet and ate mostly proteins and fats. For the record, porphyria pain is nothing like digestive discomfort. It’s burning coals of nerve pain that smolders over the entire surface of my abdomen and leaves me writhing and breathless. Other patients have reported porphyria attack pain as worse than childbirth and kidney stones.

The diet in fact did the opposite, and I found myself hospitalized for 30 days over a seven-month period. Once diagnosed, I learned how damaging low-carb diets are to the management of porphyria. A diet like this will precipitate attacks.

In between hospital stays, I jumped back into the diagnosis game out of necessity. That’s when I was referred to the Mayo Clinic, which eventually diagnosed my AHP.

As I clutched the phone, I could feel my heart grow lighter and trails of warm tears on my cheeks. I cried for that scared teenage girl who traded her pointe shoes in for bottles of pills. I cried out of anger, enraged at every doctor who dismissed my symptoms and allowed my undiagnosed porphyria to do permanent nerve damage. I cried out of grief for the years I lost and the career I sacrificed. I cried out of exhaustion, uncertainty and relief. I cried because my symptoms weren’t in my head.

Hanging up my phone, I found myself on the opposite side of a grand chasm, separating my life before and after my diagnosis. Looking over my shoulder, I could see the blanket of doubt, once wrapped tightly around my heart, discarded. I no longer had to hide underneath its weight.

There’s no map to navigate a rabbit hole of chronic illness, but I now have a name for my ailment. Now when I go to the emergency room or to a new specialist, I clutch a piece of paper on which a series of genetic code is printed, validating my body’s dysfunction. It is perhaps my greatest armor in protecting me from further medical trauma, and I’ve learned it’s a privilege to have received a DNA diagnosis.

Sometimes I wonder how my life may have been different if the medical professionals I saw as a teen had been willing to be more curious. More often, I think about how my complacency and acquiesce played a role in my prolonged diagnosis. For anyone reading this who is enduring symptoms of discomfort or pain without a name, I see you. You are not alone.

Meditation, yoga, drinking more water or getting routine sleep may not be a cure for your body. It’s possible you also have a rare disease. After all, there are over 7,000, and no doctor or even team of specialists can know them all. Keep searching for answers, get third or fourth or fifth opinions if you can. Remember, it’s OK to question doctors. And it’s perfectly reasonable to get off that diagnostic roller coaster and take an emotional time out when you need it. We all deserve compassion and to be heard.

Claire is a writer, creator and rare disease advocate. She writes "One Thousand Flaming Swords," a weekly column on PorphyriaNews.com, serves on the UnityPoint Young Advisory Council and co-founded This Porphyria Life, an online patient and caregiver community. She has a master’s in public health and lives in Des Moines with her family.

In my work as an educator and advocate for the rights of LGBTQ people, the topic I get the most questions about is gender-affirming care.

Gender-affirming care and surgeries are lifesaving to the LGBTQ community, but there are ways that medical systems can be negative for transgender and nonbinary people. Gender-affirming care can mean so many things, but the gender-affirming care that most people are familiar with is medical gender-affirming care. This can include the use of hormonal and surgical treatments in addition to vocal training. These treatments are typically used to manage gender dysphoria, which is the feeling of discomfort or distress that might occur in people whose gender identity differs from their sex assigned at birth or sex-related physical characteristics.

Study after study demonstrates that access to gender-affirming care improves the lives of transgender and nonbinary individuals. Access to such care decreases rates of depression and improves transgender people’s overall well-being, according to 51 studies that do primary research on wellness in the transgender community.

In youth, the accessibility of gender-affirming care leads to better health outcomes. However, for all the good that access to such care imparts, we must hold two truths simultaneously: that gender-affirming care is lifesaving and essential and that there is deep complexity in the ways that transgender and nonbinary people choose to transition, medically or otherwise.

Our medical system is unable to reckon with this complexity, and this leads to a situation where the medical systems that made gender-affirming care possible are also the ones that treat the experience of being trans or nonbinary as something that needs to be fixed as opposed to something to be celebrated.

Max Mowitz is the program director at One Iowa, an LGBTQ advocate and educator, and an LGBTQ gender-affirmation doula, on their way to certification as a full-spectrum birth and postpartum doula. Max's passion lies in working toward intersectional liberation of all oppressed peoples. Max is a power-lifter, harpist, abolitionist, and partner to Austin and June.

Business leaders have listed it among their top priorities for the 2021 legislative session. Lawmakers on both sides of the aisle say action needs to be taken, and during the Business Record’s Jan. 29 Fearless Friday event, it was listed as one of the top challenges facing women today.

Child care. Access. Affordability. The "cliff effect." It’s an issue seemingly facing just about everyone, and like many issues, it’s one that’s been placed in the spotlight over the past year as the coronavirus pandemic has disrupted our economy, our schools and our families. Several bills addressing child care issues have been introduced during the 2021 session, and have begun working their way through the legislative process.

Those for whom child care is a constant challenge in their daily lives want to see change that will make their lives easier.

Zahra Ismael and her husband lost their child care assistance and had to pull their young daughter, Safa, out of Oak Academy in Des Moines. They had to find a babysitter or find alternatives, like taking turns watching children with other families. Some of her friends have just opted to quit their jobs and stay home, she said.

"Sometimes it’s just easier to stay at home," said Ismael, a refugee from Ethiopia. "It’s not enough to pay child care and pay food, it’s not enough to pay for everything."

Her husband had a job working at a home improvement store, but left the position to return to school in hopes of getting his commercial driver’s license so he can someday make more money.

Ismael, who works at Oak Academy, said change is needed to allow more low-income families to earn more money and still qualify for assistance.

The cliff effect

Under current guidelines, a family of four can make up to $37,990 a year to be eligible for assistance. A family with one child can earn up to $18,502. Those numbers are based on 145% of the poverty level, and one bill introduced this legislative session would increase income eligibility to 250% of the poverty level. If approved and signed into law, a family of four could earn up to $65,500 a year and still qualify for financial assistance to pay for child care.

The cliff effect comes into play when a parent receives even a small raise or promotion or raise that puts them over the income threshold to qualify for assistance. That means if someone earns a few hundred more dollars a year they could lose assistance and are left to shoulder the burden of the cost of child care, which can be $1,000 a month or more for many people.

Child care is often listed as the most expensive item in a family’s budget, said Dave Stone, advocacy officer for the United Way of Central Iowa. For some families, Stone said, the solution may be simple but have long-term consequences.

"It becomes a Catch-22," he said during the Jan. 12 Business Record’s Legislative Forecast panel discussion. "I’m working full time to afford child care to go to work. It’s a chicken and the egg problem. There’s a lot of folks who realize it’s more affordable to stay at home and take care of the kid.

"That would drop a worker out of the workforce and just prevent growth of the skills of that individual."

Bethany Davis, director of Oak Academy, which is run by the nonprofit Oakridge Neighborhood in Des Moines, said she sees the cliff effect challenge frequently at Oak Academy, where 90% of children enrolled use child care assistance.

Few day care centers in Central Iowa accept that level of child care assistance, she said, forcing many low-income families who make too much to qualify for assistance to either choose to stay home or send their children to in-home centers, possibly leaving children ill-prepared for preschool and kindergarten when they are older, Davis said.

"Nobody can afford it; I couldn’t myself when I had children go through day care, and I’ve actually had people say they’ve asked their employer to not give them a raise because they would lose their child care assistance," Davis said. "If they lose child care assistance, there are a plethora of problems that come with it."

Twenty-three-year-old Naomi Osaka defeated Serena Williams in the Australian Open semifinals. For Williams, the result was discouraging, no doubt. Her quest to tie, and eventually best, Margaret Court’s career grand slam record, which is 24, is part of what keeps her from retiring.
The World Trade Organization has chosen Nigeria’s former finance minister Ngozi Okonjo-Iweala as its first female and first African leader.
Japan has chosen Seiko Hashimoto, one of its most prominent female politicians, to serve as the country's new Olympic organizing chief, in a bid to send a message of gender equality following a sexism scandal that toppled the previous chief.
The University of Iowa is reversing its decision to cut the women’s swimming and diving program after facing legal pressure.
As a winter storm wreaked havoc on Texas, about 1,000 women at the federal medical prison in Fort Worth were left without heat in freezing temperatures, according to women in the prison and family members of women incarcerated there.
New research shows that breast cancer death rates for women under 40 are no longer decreasing. Since 1989, the breast cancer mortality rate had been decreasing between 1.5% and 3.4% for adult women from 20 to 79. But beginning in 2010, the breast cancer death rate rose 2.8% per year in women in their 20s and 0.3% per year in women in their 30s.
The Young Women’s Resource Center announced that the recipients of the Louise Rosenfield Noun Impact Award and the Louise Rosenfield Noun Visionary Award are Barbara Adams and Rekha Basu, respectively.
U.S. Bank announced it has created a $25 million microbusiness fund focused on grants and investments in businesses owned by women of color.

Meet the 2021 class of Time100 Next (Time). Opinion: Women still face hurdles to equality in Iowa (Iowa City Press-Citizen). Simone Biles readies for her final Olympics (CBS 60 Minutes). Will remote work kill the 40-hour week? (Rewire). The White House is taking women’s issues seriously. Really (New York Times). The 100 greatest books ever written by African American women (Zora). ‘It’s harder for Black women to leave,’ Iowa domestic violence advocates say (Black Iowa News). Why one woman is offering yoga classes in Spanish (Iowa Public Radio). The lockdown showed how the economy exploits women. She already knew (New York Times Magazine). One of the newest COVID workplace perks? Help with emergency expenses (Fortune). Key takeaways from the Greater Des Moines Partnership’s child care policy forum (Business Record). You can be a productive person without ever aiming for inbox zero (Forge). Gender pay gap persists even at executive level, new study finds (ABC News). Could ‘returnships’ for moms who’ve left the workforce help solve women’s economic crisis? (Fortune).

If you haven’t signed up yet for our interactive Fearless Friday event, you can do so on our website. This Friday at 8 a.m. we’ll hear from Brandy Hennessy, trauma coordinator in the emergency department at UnityPoint Health – St. Luke’s Hospital in Cedar Rapids; Dr. Aneesa Afroze, infectious disease consulting physician, president of medical staff and director for antimicrobial stewardship at MercyOne; and Nalo Johnson, division director for health promotion and chronic disease prevention at the Iowa Department of Public Health.

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