The plates of nachos had just arrived at the table. The 39-year-old woman watched as her friends dug in, but she had no appetite. She took another sip of her margarita. Suddenly her stomach dropped queasily. She felt her chest and face get hot. A knife of pain shot through her gut.
“I’ve got to go home,” she muttered to her friends as she struggled to her feet. She could feel her energy drain from her body like water dumped from a bucket. “I really don’t feel well.” She heard her friends voice their concern but merely shook her head and made her way through the busy restaurant to her car. She waited for the moment to pass — these episodes usually didn’t last long. Then she pushed the start button and inched her way home.
She had come to know these strange spells well over the previous several years. Recently she thought they were a little more frequent and a whole lot worse. And between them, she felt a fatigue that no amount of sleep seemed to relieve. Her bones and joints ached all the time. She was no longer able to skate in her local roller derby or hike in the woods she loved. She wondered if she was just getting older. Her doctor assured her that this wasn’t just aging and ordered blood tests for the usual suspects: anemia, kidney failure, liver disease, thyroid issues. When these were unrevealing, they looked for less-common causes. The woman didn’t have an autoimmune disease; her cortisol and stress hormones were fine.
Without a diagnosis, the woman just did less. She didn’t go out with her friends after work. She limited other activities. Her life grew small.
A Good Deed
When she heard, months later, that her aunt was in need of a kidney and that the expected donor was pregnant and couldn’t donate, the woman offered one of hers. Her aunt was touched by her offer but cautious. This was a serious decision, she told her niece over the phone. Was she certain that this was the right thing to do? She was, the woman told her aunt. She wanted to help.
On a cool morning, the woman drove to Houston Methodist Hospital, just south of her home in Spring, Texas, for the testing required to be a donor. More than a dozen tubes of her blood and samples of her urine were taken. She had a CT scan of her abdomen and pelvis to assess her kidneys and surrounding anatomy.
Dr. Katafan Achkar, the medical director of the Living Kidney Donor Program at Houston Methodist, reviewed the labs and the CT results before meeting the patient. The labs were normal, but the CT was not. The radiologist reported that the woman had what he described as a diffuse haziness of the bones of her hip and pelvis, with patchy areas of a brighter white, suggestive of osteosclerosis, an abnormal thickening of the bone. This is usually seen in patients with kidney failure supported by hemodialysis. Achkar wasn’t certain what else could cause this unusual finding. He read up on the condition.
The patient sat silently as Achkar told her about the possible causes of these findings. They were worrisome: cancers, such as breast cancer, that metastasize to the bone could do this; some types of lymphoma; and certain diseases that cause white blood cells to infiltrate the organs of the body, like systemic mastocytosis, a rare and abnormal proliferation of a type of white blood cell known as mast cells. The next step would be to get a biopsy of the bone and the bone marrow.
Two weeks later, the woman drove back to Houston Methodist for the biopsies. She lay on the exam table and felt the sharp pinch of the numbing medicine go into the skin over the back of her right hip. It did its job, but the pressure of inserting the thin, hollow needle used to get a sample from the bone and the underlying marrow just about took her breath away. The osteosclerosis made the bone harder than normal.
An Unfamiliar Diagnosis
A few days after the biopsies, the woman got a message that new results were available on her electronic medical record. They were hard to decipher, but she scrolled down to the pathologist’s comments, her heart pounding. The findings were suggestive of systemic mastocytosis.
The woman immediately started to read up on it. In systemic mastocytosis, she read, an excess of mast cells, which normally drive allergic reactions and fight parasites, release high levels of chemicals that affect blood flow and trigger inflammation. Histamine, the best known of these chemicals, causes typical allergy symptoms, including flushed, itchy skin and runny eyes and nose. We take antihistamines to treat these symptoms. Mast cells can also trigger anaphylaxis, the most severe form of allergic reaction. Anaphylaxis causes sudden drops in blood pressure, shortness of breath, abdominal pain and swelling of the tongue and throat. It can be deadly. Could low blood pressure have caused her terrible weakness and fatigue? Was this a version of anaphylaxis?
There were several types of S.M. Some were life threatening. The patient didn’t know where to turn. She called Achkar, who suggested she see a hematologist. She got a list of these specialists included in her insurance plan and started calling. None had any experience with systemic mastocytosis. None would see her. The only doctors she could find who had any real experience with the disease were at M.D. Anderson Cancer Center in Houston, and her insurance wouldn’t cover doctors there.
Through the S.M. Facebook page, she found a hematologist in nearby Kingwood who was willing to see her. The bone-marrow biopsy had already revealed the abnormal gene that triggered the proliferation of mast cells, confirming the diagnosis. This altered gene is not inherited and can’t be passed on. Instead, something changes the gene and turns on the cellular machinery that results in uncontrolled mast cell proliferation.
These excess mast cells invade internal organs and, from there, release the chemicals that produce the symptoms of S.M. Like most adults with this disease, the patient had the mildest form, known as indolent systemic mastocytosis, which can usually be managed with a drug that blocks the product of that altered gene. She now takes that drug. It reduces but does not completely stop the production of mast cells. She finds that daily doses of antihistamines and other allergy medications help prevent the episodes of weakness, shortness of breath and abdominal pain that can bring her life to a standstill.
I spoke with the patient recently. It has been three years since her diagnosis, and she feels pretty good. She still doesn’t have the energy she used to have. And she wasn’t able to donate her kidney to her aunt. It broke her heart when her aunt died, too sick to find another donor.
She is certain that her effort to perform this good deed provided her with the diagnosis that explains so many of her symptoms. She has learned that alcohol can be a trigger for histamine release from her excessive mast cells and can cause the type of spell she had at the Mexican restaurant years ago. She gave up alcohol altogether after a drink led to a life-threatening episode of anaphylaxis. And she keeps a list of other foods that, for her, seem to set off these chemical dumps. Like many people with rare diseases, she finds that fellow patients have much to offer to supplement the medications provided by her doctor, which she finds essential but not sufficient.
The patient continues to try to do good. Last year, she and another S.M. patient started a monthly podcast about their disease, called “Mast Cast,” to exchange that special kind of knowledge — and as a way of letting others with S.M. know that they are not alone.
The post She Was Hobbled by Fatigue Before an Accidental Diagnosis appeared first on New York Times.
