A fit, middle-aged woman began losing her ability to see colors while her blood sugar inexplicably climbed — a baffling combination of symptoms that set her on a long search for answers, Rachel Zimmerman reports for The Washington Post.
Rachel Hyman, a clinical psychologist just outside Seattle, had never faced serious illness until her first pregnancy at age 31. Doctors discovered gestational diabetes, a condition that arises during pregnancy when the body struggles to produce enough insulin.
The problem was resolved after delivering her baby, only to return with her second pregnancy. By the time Hyman was carrying her third child, doctors anticipated the condition and prescribed insulin injections.
After that pregnancy, Hyman's blood sugar never returned fully to normal. Her A1C levels — a long-term measure of glucose in the blood — lingered in the prediabetic range. For the next decade, Hyman carefully managed her weight.
However, despite being fit and diet-conscious, her blood sugar started rising, leading Hyman to double down on her health regimen. She cut back on carbs, ran nearly every day, and filled her plate with vegetables. "There were a lot of salads," she recalled.
Despite these efforts, Hyman's glucose levels crept into the "prediabetic" range. At 48, she was formally diagnosed with type 2 diabetes. Hyman begged her doctor to give her six more months before prescribing medication, but her internist refused, warning her that the risks were too high without medication.
"I was really upset," Hyman said. "I just didn't fit the profile of someone with type 2 diabetes."
Her husband, Garrett, a physician who specializes in physical medicine and rehabilitation, was skeptical of the diagnosis. "I always thought Rachel's diabetes didn't make sense," he said. "She was eating better than anyone."
Meanwhile, Hyman also began noticing trouble with colors. She recalled "seeing colors differently than other people" even earlier in life, but the problem grew more obvious in her 40s. Once, she complimented a friend's "good, off-white pants," only to hear, "they're green."
Concerned, Hyman visited an ophthalmologist, who administered the Ishihara test for colorblindness. According to the doctor, Hyman was "severely color deficient." Because she remembered being able to see the numbers on the test years earlier, she was referred to a specialist for potential concerns about eye or brain disease.
In March 2023, Hyman met with Bonnie Keung, a neuro-opthalmologist at Swedish Hospital in Seattle. An exam showed that Hyman's optic nerves were pale — a sign of potential damage. Healthy optic nerves are pinkish, but hers were faded and partially white. An MRI was ordered to look for tumors or other brain abnormalities, but the scan came back normal.
"I was scared they'd find something no one was looking for," Hyman said.
Genetic testing brought an unexpected answer. Keung recalled: "I thought she would have one of the more common inherited optic neuropathies we see… [Hers] is a rare condition even in the world of neuro-ophthalmology."
Hyman was diagnosed with Wolfram syndrome, an incurable genetic disorder that affects blood sugar, vision, and neurological health. The condition occurs in roughly one in 500,000 people worldwide. In its classic form, Wolfram syndrome causes childhood-onset diabetes, progressive vision loss, bladder dysfunction, anxiety, depression, difficulty swallowing and breathing, and a median life expectancy of around 30.
"What I found looked awful," Hyman said of her online searches after receiving her diagnosis. "This was not good, and I was scared and confused."
Keung quickly arranged for Hyman to meet with a Wolfram specialist virtually, but she continued to be stressed before the appointment. "You're kind of holding your breath," she said. "Who wants to be the person with the super rare condition? Who's going to want to do anything to help; there’s probably no research and who knows what my future holds."
In August 2023, Hyman met with Fumihiko Urano, director of the Wolfram Syndrome and Related Disorders Clinic at BJC HealthCare. At the appointment, Urano gave Hyman some reassuring news: it seemed like she had a milder, later-onset variant found in Ashkenazi Jewish people.
Urano said that in 2015 he noticed that some Jewish patients with Wolfram syndrome had less severe symptoms. In 2018, a Jewish genetic testing lab in Brooklyn called about a specific mutation in the WFS1 gene, and "something clicked," he recalled. Urano estimates about 3% percent of Ashkenazi Jewish people are carriers of this variant.
Although Hyman's current symptoms, which include blood sugar dysregulation, vision problems, and bladder issues, are manageable, it's not clear whether they, along with her overall neurological health, will worsen over time.
"My worry is whether Rachel will struggle with more impairments over time that lead to disability," Hyman's husband said.
To try to slow the progression of the disease, Hyman currently takes tauroursodeoxycholic acid (TUDCA) and idebenone, supplements that have shown potential in cell studies. She also began treatment with the GLP-1 drug Ozempic, which has returned her blood sugar to prediabetic levels.
"Right now, more rabbis know about Wolfram than endocrinologists," said Irl Hirsch, an endocrinologist at the University of Washington who is part of Hyman's care team.
The diagnosis has prompted her relatives to be tested. A cousin who is blind and has diabetes tested positive. Hyman's mother and three children are carriers. She and her mother are now building a website to raise awareness and advocate for broader screening.
"A diagnosis for people is peace of mind, even if it's a terrible thing," Hyman said. "Without it, I’d still be treated like I have type 2 diabetes, which isn't what I have."
She tries not to look too far ahead. "I have a good outlook," she said, but "life is uncertain. I don't even know what's going to happen when I get in the car tomorrow."
(Zimmerman, The Washington Post, 8/2)
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