BOOK EXCERPT

When illness and family secrets collide

A leukemia patient's sister wanted to donate marrow — which led to a 48-year-old secret being revealed

Published May 10, 2020 10:00AM (EDT)

Doctor writing on clipboard (Getty Images)
Doctor writing on clipboard (Getty Images)

Excerpted from "When Blood Breaks Down: Life Lessons from Leukemia," by Mikkael Sekeres (MIT Press, 2020). Reprinted with permission from MIT Press.

Joan Walker was a surgical nurse in Wooster, Ohio, near Amish country, who couldn't understand why she had become so tired every day, almost falling asleep on her feet while assisting doctors in the operating room. 

"It felt like someone stuck a huge syringe into me and sucked out the energy, leaving me more tired than tired. I was a shell of a body, going through the motions of the day," she later told me.

Wooster, located about 50 miles south of Cleveland in Wayne County, is typical of the state of Ohio in many ways. It is headquarters to businesses such as Daisy Brand, the maker of sour cream and cottage cheese, and the Wooster Brush Company, which manufactures paintbrushes and rollers. It is also an agricultural center that encourages its young residents to participate in 4-H programs and compete at the Wayne County Fair.1 As a result, industrial complexes and rural roads leading through bucolic farmland exist in equal measure. The patients Joan cared for reflected this balance, which she loved. Many, including Joan, had never left Wooster; their families, like hers, had lived in the area for generations and collectively pitched in to help raise the children. At the hospital, she often cared for her friends, and there were few secrets.

Perhaps it was years of waking up at 5 a.m. so she could be at the hospital on time for the first surgical case. Or the toll it took on her, being the single mom of two—a son who barely made it through high school and a difficult teenage daughter. It wasn't just the tiredness: her gums started to bleed every time she brushed her teeth, and she developed a rash on her legs under the compression stockings surgical nurses wear to combat the swelling that comes with hours of standing in the operating room. When she mentioned these symptoms to the doctor she had worked with for more than a decade, he insisted she have her blood counts checked.

Early on a Wednesday morning, after the first surgical case of the day, she went to the hospital's lab. With the technician who drew her blood, she joked about his ability to collect it on the first stick (he succeeded). After she had assisted on the second case of the day—a young man undergoing a hernia repair—the surgeon asked her to come into his office. He had just received a terrifying phone call from the lab.

Joan sat in a chair by the wall, still wearing her avocado-green scrubs. The surgeon sat in the chair behind his worn desk. Pictures of his wife and children adorned the walls, as did a photo of him with his surgical team, including Joan, taken a few years ago. She was still married back then, and was wearing her wedding ring.

She noticed his hair was mussed from the surgical caps he had been wearing all morning, and he made no effort to fix it. "Joan," he said to her, "your tests came back, and they were pretty abnormal." He grimaced and shook his head, clasping his hands in his lap as he leaned toward her. "I've never seen a white blood cell count this high. I need to get you over to someone who can figure out what's going on."

"How high?" she asked, looking her colleague in the eyes. Their professional relationship as doctor and nurse suddenly shifted; now, as doctor and patient, an unfamiliar vulnerability came into play for Joan, as it so often does when a healthcare worker gets sick.

"It's 154,000." They both knew that was over 15 times higher than normal. She swallowed the news and nodded her understanding.

"Do what you have to do," she told him.

He picked up the phone, called the hospital operator at the Cleveland Clinic, the hospital where I work, and for the first time, she heard someone use the word leukemia when referring to her. The operator paged me, and I broke from rounds to answer her summons. That was the first time I heard about Joan.

I took out a blank 3×5 card from the pocket of my white coat and jotted down some notes: "48 yr old fem . . . 4 wks of fatigue . . . gum bld . . . wbc 150k . . . hgb 7.3 . . . plt 18." The shorthand of illness. She was profoundly anemic, with a hemoglobin level that was about half normal, and her platelet count was one-tenth of where it should be, hence the bleeding.

"Yes, of course we'll accept her to the leukemia service," I told her doctor. He asked when she should leave for our hospital. "Today. If she would go home and pack her things and ask someone to drive her, that would be great." He assured me that she would do that. We said our goodbyes, and I returned to continue my hospital rounds, anticipating her arrival sometime that afternoon.

* * *

I walked over to Joan's room just as Rachel was leaving.

"How'd it go?" I asked Rachel, who was peeling off a protective paper gown for the second time that day.

"Good. I didn't feel a thing," she wisecracked. "Actually, it did go well, but she kept bleeding from the puncture site for a while. I had to hold pressure on it for about 20 minutes, and even then it was still oozing. So I put a pressure dressing on the site and asked Ms. Walker to lie flat for an hour."

"Do you think it bled more than usual?" I asked. She nodded.

"Can you send some coags?"

"Way ahead of you, boss. They're cooking," she answered. Rachel was the type of fellow who was so smart that I had to work to find some esoteric fact about our patients I could teach her.

Coags, short for coagulation labs, are a group of tests that measure the ability of the blood to form clots. It's bad enough that someone has a diagnosis of acute leukemia, which usually causes the platelet count to be low, predisposing that person to bleeding. We already knew that was the situation with Joan. It's even worse when the blood's ability to coagulate the sparse numbers of platelets is impaired, a condition called disseminated intravascular coagulopathy, or DIC. DIC can arise as a side effect of certain types of leukemias, or it can be triggered by a serious infection. It can be devastating, as DIC can lead to either life-threatening bleeding, or to the formation of blood clots that could be equally dire.

I knocked on Joan's open door gently. She was lying flat in bed, now wearing the Diane von Furstenberg duds. There was some blood staining her sheets. Her eyes were shut, and her friend had left the room, probably ushered out by Janey when Rachel performed the bone marrow biopsy. While we loved having friends and family members around frequently to support our patients and help them get through the ordeal of treatment, we have learned from past experiences that once one of us brandishes that absurdly long needle for the biopsy, some people faint. And then we have two patients, instead of one. That situation is one I call an IGBO—I Got Burned Once.

"Hey," I said softly. She opened her eyes and looked over to me. Rachel followed me in.

"Hey," she answered, almost reluctantly, as if she didn't want this next stage of her life to begin yet.

"Okay for me to sit down?" I asked, gesturing to her bed. She nodded, and I introduced myself. "You know why you're here?" She nodded again.

"I sure would have liked to be meeting you in the outpatient clinic in Wooster," I offered. She grimaced. "I hear you're a surgical nurse. You have a really good group there. Your patients are lucky to have you."

"Yeah, they're the best," she agreed.

"We're pretty concerned that you have leukemia," I said. "What do you know about it?"

"Only that anyone I've taken care of with leukemia in the ICU hasn't done too well," She replied. "Especially the bone marrow transplant patients."

"It's true, our patients have to be pretty sick to make it to the ICU, and once they get there, many don't make it out. But some do. And my goal is to keep you out of the ICU as we get rid of this leukemia," I told her. She was quiet, tearing up a bit.

In many hospitals, there is a bias that cancer patients shouldn't be admitted to intensive care units, the perception being that they never make it out of them alive. A few years before I treated Joan, we had decided to study this phenomenon to see if it was true. We followed 90 patients with acute leukemia who were admitted to our intensive care unit so we could evaluate how they did.12 Approximately one-third improved enough during their ICU stay to continue receiving aggressive therapy for their leukemia; most of them were eventually discharged from the hospital back home. Those who did not need to be placed on a mechanical ventilator and did not require medicines (called pressors) to raise a low blood pressure had the best outcome of all, with over half surviving the hospitalization. The main take-home message from the study was that people with acute leukemia fared no worse than those with other serious medical conditions who were admitted to the ICUs at the same time. There was no basis for the bias.

Joan's friend walked into the room with an older woman who came straight over to the bed to give Joan a hug. Joan introduced her to me as her sister Connie. I could see the resemblance, in the eyes and the edges of their mouths. She also introduced her nurse friend Patty.

"Connie's 15 years older than me," Joan said. "I was planned, she was the accident." I laughed as Joan and Connie smiled at what I'm sure was a well-tread joke, repeated over years. Joan asked me to explain what was going on to Connie and her friend, and by association to her too.

I reviewed a lot of the same facts that I had discussed earlier in the day with David and Betty and their children. I shifted some of the outcome estimates given Joan's younger age, quoting a 70 percent chance of entering a remission, a risk of dying less than 10 percent, and a chance of being alive in five years of approximately one-third.No one took notes, but everyone listened attentively.

"I'm confused," Connie said. "If Joan has a 70 percent chance of a remission, why does that drop to 30 percent five years from now. Doesn't remission means she's cured?"

I reflected back to the study we conducted when I was in my training, and wondered whether the people I surveyed really overestimated their chances of being cured, or were conflating remission estimates with cure. Either way, the onus was on me to do a better job explaining the critical difference.

"We can only detect cancer in the body when you have 10 billion cancer cells. Below that amount, we might not even notice anything abnormal on a CT scan for a solid tumor like lung cancer, or see anything abnormal in blood counts for hematologic cancers like leukemia."

"So right now, Joan has more than 10 billion leukemia cells in her body," Patty commented, her eyes widening at the enormity of the number. A statement, not a question.

I nodded, looking at Joan. "You do. When we give you this first round of chemotherapy, our goal is to reduce that number 1,000-fold or 10,000-fold— by three or four logarithms, down to maybe 10 million cells. If we're successful, we'll know it because we'll perform another bone marrow biopsy on you and we won't be able to see any of the leukemia cells."

"Even with 10 million of them still floating around?" Patty asked.

"That's right," I answered. "Remission means we can't see any of the leukemia using a microscope to view a section of the bone marrow, with the blood counts mostly recovered back to normal. Remission is a wonderful thing. It's the first step toward being cured. But it doesn't mean the leukemia's gone."

"So you have to give more chemo after that, to get rid of what's left over," Joan said.

I nodded again. "Yup. That's what we call post-remission therapy. It's mainly done in the outpatient clinic. Every time we give another cycle of chemo, we hopefully reduce the number of leukemia cells another 100-to 1,000-fold. So, from 10 million cells to 100,000, and then from 100,000 to 1,000, and so on. Eventually, there is such a low level of leukemia remaining that, hopefully, your immune system can gobble up the rest."

"And then she's cured," Patty said. I agreed. "Even at a genetic level?"

I hesitated. "You've been doing some reading?" I asked Patty.

She nodded. "What I could on the drive up here."

She seemed like a great friend, and a super advocate for Joan. I hoped I was lucky enough to have someone like Patty with me if I ever had a serious illness.

"Leukemia starts when something goes wrong in the genetic machinery of the bone marrow cells—the blueprints for the cell." I clarified that most of the time these weren't genes that were passed down to children. "When we talk about remission, we said that we couldn't see any leukemia cells as hard as we look. Sometimes, though, we can still detect the abnormal genes. This is a condition we call minimal residual disease with a morphologic remission—we can't see the leukemia cells, but we know they're still there because the bad genes are lurking. We can sometimes use that information to our advantage—it means there's a greater likelihood the leukemia will return despite the traditional remission, and we might intensify the therapy we use in the future, even recommending a bone marrow transplant. So we'll look for any of these genetic abnormalities to see if we can follow their levels over time."

"Can you treat any of the genetic abnormalities?" Patty asked.

"We can," I answered. "There are a couple that have been discovered in the past few years that are associated with AML. One, called FLT3, can be targeted with a drug that was just approved in 2017. People who received the drug, along with chemotherapy, lived longer than those who were just treated with the chemo. Another, called IDH2, can be treated with a pill."

Patty and Joan were rapt with attention. Connie stared at Joan, her eyes unfocused, probably still shell-shocked that her younger sister had a life-threatening diagnosis.

I hesitated before I continued, wanting them to absorb what I had just said but not wanting to raise their hopes prematurely with what I had to say next. I gestured to Rachel.

"Rachel tells me that you had some bleeding after she performed the biopsy."

Joan glanced quickly at Rachel, then back to address me. "I guess so. The young doctor did a good job with the needle, but could use a little work on her pressure dressings," Joan joked.

"Hey, hey, they haven't taught us that in fellowship yet!" Rachel answered, joining the repartee. "The bleeding stopped, didn't it?"

"Doctor, eventually all bleeding stops," Joan quipped. She was a riot.

"Great point!" I laughed. "But in all seriousness, while the bleeding could have occurred with your low platelet count, it also may mean you have some DIC."

"That's not good," Joan answered, alarm now replacing her previous, mischievous look. "When my patients develop DIC, they almost never make it out of the hospital alive."

"Well, maybe. But paradoxically it may actually be an encouraging sign. DIC can occur with any type of leukemia, but it occurs more frequently with one subtype, acute promyelocytic leukemia, or APL, which has a really good prognosis. We were just talking about the genetics of leukemia. This one is associated with abnormalities of chromosomes 15 and 17." A translocation, like with BCR-ABL in Ms. Badway's chronic myeloid leukemia. "We're sending tests both to see if you have DIC, and to check if you have this type of leukemia. I should know more later today about the DIC, and by tomorrow about the leukemia."

"We'll keep our fingers crossed," Patty responded.

"Yes," Connie added, looking at Rachel and me. "Fingers and toes."

* * * 

Monday again.

Joan returned to the hospital and stood by Angela's desk at the entrance to the leukemia floor, with Connie by her side. Same black bag, same red yarn identifying it as hers. Same wristband, same leukemia.

Janey spotted her and, without words, walked up and gave Joan a lingering hug.

"Let's get you settled honey," Janey said to Joan. "And let's get you better."

Different room this time, facing east toward the Cleveland Museum of Art, Severance Hall (home of the Cleveland Orchestra), Cleveland Heights, and Shaker Heights, where I lived. Connie helped unpack her bag and put the few clothes she brought into the narrow closet and drawers.

Different residents and interns, too. Becky and John had moved on to other rotations after their four-week stint on the leukemia floor, neither destined for a career in hematology/ oncology. An intern in a freshly dry-cleaned shirt was asking Joan a number of questions about her leukemia and how it was being treated; he was typing the information into the computer on his WOW when Jackie and I entered the room, having walked over from clinic. Routine now for Joan, anything but routine to this new guy. I apologized for interrupting.

"Glad you made it in okay, Joan. How was your weekend?"

"Great," Joan answered, smiling. "Saw some friends on Saturday, went out to breakfast with the kids Sunday. It was all so . . . normal," she said, thinking through the events of the past couple of days, and sounding almost surprised that normal had triumphed over abnormal. "I'm ready to get started again."

We chatted for a couple of minutes about what the next few days held in store. We had started to say our goodbyes when Connie stopped us.

"Any chance I could talk to you for a moment in private?" she asked.

Jackie and I left the hospital room with her and walked down the hallway to an empty conference room. We sat down at the table, Connie at the head, Jackie and I at either side.

"About the bone marrow transplant. You need to get a blood sample from me to see if I'm a match for her, right?" Connie asked.

"Right. Like we said, as Joan's sister there's a 25 percent chance your DNA—your genes—are similar enough to hers that you could donate your bone marrow to her, so we check your blood before we go to strangers through the Be The Match program."

Connie shook her head and closed her eyes. "I don't want you to check my blood."

I was surprised. "Oh. Okay. Can I ask why? (Another question requesting permission to ask a question.) Do you not like needles? Or is it because you don't think Joan should undergo a bone marrow transplant?"

"It's because I'm not her sister," she said.

I thought I had misheard her, and stared at Connie for a couple of seconds, without saying anything. Jackie shot a look at me, and then back to her. I might have asked her to repeat herself, but I don't remember in my confusion.

"I'm not her sister," Connie said, reiterating the information as much for our benefit as for her own, as if she were testing what the words sounded like out loud. "I'm her mother. I'm Joan's mother. I had her when I was 15. I didn't want to give her up, but I couldn't raise her myself either, and my parents didn't want anyone to know I was pregnant. So I moved away from home for a few months, and had her, and when I came back we all just pretended my mother had another baby. Joan's grandmother. Joan was raised by her grandparents. And me."

On the wall close to the ceiling hung a large clock with black hands, numerals, and the manufacturer's name, Seth Thomas, prominent on its white face. The clock ticked away as we sat in silence. I wondered what other secrets had been disclosed in this room that Mr. Thomas was privy to.

"Does Joan know?" I asked.

Connie shook her head. "She doesn't. And I'd prefer she not find out. At least, not this way. Can't you just start looking in the Be The Match program?"

The cruelty of genetic randomness is that in some cases, it isn't so random, and uncovers truths that we didn't anticipate when we test siblings to see if one could be a bone marrow donor. More commonly, this involves paternal discrepancy.

One report focusing on paternal discrepancy — when a child is identified as being biologically fathered by someone other than the man who believes he is the father — identified 17 studies published between 1950 and 2004. Rates ranged between 0.8 percent and 30 percent, with a median rate of 3.7 percent. Older studies relied on blood type compatibility, whereas more contemporary ones applied DNA testing, similar to what would be used to assess whether or not one person is an HLA — and thus a bone marrow transplant — match for another. Higher rates occurred in studies that included participants who were disputing paternity, as might be expected.

Rates of misattributed paternity (another catch-phrase for paternal discrepancy) among living related donors for bone marrow and solid organ transplantation ranges from 1 to 10 percent.  

Another study that examined the association between genetic signatures on the Y chromosome and surname in the United Kingdom found rates of non-paternity to be even lower, at approximately 1 in 25, or 4 percent.

My conclusion from the sparse research on this topic is that rates of paternal discrepancy are low, but real, and are likely to be revealed more frequently as the rates of bone marrow transplantation increase.

What is our moral obligation, though, to both patients and donors, with respect to disclosing it?

A survey of 102 potential kidney transplant recipients, donors, and healthcare providers asked this very question. Among 35 potential recipients, 60 percent wanted this information disclosed. Half of donors agreed, whereas only 43 percent of providers were willing to disclose paternal discrepancy. The providers' reluctance to disclose biologic paternity (relative to the percentage recipients and donors) stems from a number of factors.

First, even genetic testing can be wrong, and nobody would want to introduce such filial and marital havoc into a family without being absolutely sure of the results. This would follow principles of beneficence (to do good for the patient) and non-maleficence (to do no harm).

Second, to whom does a physician or nurse have a primary obligation? His or her patient with leukemia, or the "patient" who is providing a blood sample to assess HLA compatibility? Turns out, both.

I have an ethical and moral responsibility to maintain the confidentiality of my patients. A number of times, a well-meaning child has pulled me aside or requested to speak with me separately, without my patient present, to ask the question:

"How's Mom really doing?"

It's the same question I would want to ask my mother's physician if she had a serious illness. It's actually what I expected Connie to ask when she accompanied us to the conference room.

"What has she told you is going on?" I'll often reply. And most times, the child will then reflect back to me precisely what has transpired with my patient's health. But if not, I have to ask my patient's permission to discuss her health with any family member.

"Don't talk to him," one patient instructed me, referring to a physician brother who had called my office to review my patient's leukemia. "He's crazy and I don't want him involved in my healthcare."

I never would have guessed if I hadn't asked. I also can't ethically disclose information I have learned about one patient to another—even when they are siblings, and even when one's chance of receiving a potentially curative bone marrow transplant depends on the other. This is referred to as the principlist approach to respecting autonomy: that patients (in this case, the patient supplying blood to assess if he or she could be a bone marrow donor) should have autonomy to make informed decisions based on information communicated by the healthcare provider, and that autonomy implies that a patient has the right to informed consent, confidentiality, and to control that information in maintaining privacy. Connie deliberately told us "I'd prefer she not find out."

Counter to this, genetics groups have recommended that incidental findings (in this case, the incidental finding of paternal or maternal discrepancy) noted on genetic screening tests should be reported to patients. Some have even advocated that the potential for such discrepancies be included in informed consent for HLA testing.

To deal with this and other potential conflicts between the rights of the donor and of the recipient, many bone marrow transplant groups assign different doctors, nurses, and even social workers to the donor from those who are assisting the recipient. This also mitigates the issue of coercion, where a donor may feel pressured by family members to undergo a procedure, with its attendant risks, that he or she really doesn't want to endure. Members of teams will report HLA testing results back to the potential donor, and ask permission

if those results can be communicated to the potential recipient.  If paternal or maternal discrepancy arises, the teams simply disclose that the potential donor "was not a match."

"We'll start looking in the Be The Match registry for Joan. And we won't tell Joan what you just told us," I reassured Connie.

"We'll just say that you aren't a match for her. Which is true," Jackie added.

"Thank you," Connie said, resting her hands on the wood conference table. "To think, all these years of her not knowing. And that a bone marrow transplant, of all things, would have revealed it." She shook her head again. "Of all things."


By Mikkael Sekeres

Mikkael A. Sekeres, MD, MS is Chief of the Division of Hematology and Professor of Medicine at the Sylvester Comprehensive Cancer Center, University of Miami and author of the book When Blood Breaks Down: Life Lessons From Leukemia (The MIT Press 2020). Follow him on Twitter @MikkaelSekeres.

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