One thing that most people don’t realize about stem cell transplants (also called bone marrow or hematopoietic stem cell transplants) is that for patients, the transplant itself is probably the easiest part of the process. The grueling part is the preparation for a transplant, called conditioning.
Over the last year and a half I’ve written 70-plus stories about innovations by doctors, nurses and other staff at Boston Children’s Hospital. I haven’t yet written a story about a patient innovation. But that doesn’t mean that patients and their families aren’t out there innovating.
Case in point: Kezia Fitzgerald saw pretty quickly that there was a problem she might be able to fix. Her daughter Saoirse (pronounced Seer-sha), who had been diagnosed with neuroblastoma, had just had a PICC line put into her arm at Dana-Farber/Children’s Hospital Cancer Center to infuse drugs and fluids. Within a day, Saoirse was tugging at the line, trying to pull off the tape that was keeping it in place. “It was irritating her skin pretty badly,” Kezia says. “She was really uncomfortable.”
Kezia, herself at the time fighting Hodgkin lymphoma (read the family’s story on our sister blog, Thriving),wanted to make her daughter as comfortable as she could. …
I had to admit that I didn’t. I’ve always thought of sickle cell—a painful and debilitating disease caused by an inherited mutation that makes red blood cells stiffen into a characteristic sickled shape—as a chronic disease to be managed, not one that could be cured.
I’m not alone in that belief. Lehmann often asks this question when she give talks for medical students, residents and other physicians. Their reaction is puzzlement, then a shaking of heads.
When you look at an apple, no matter what variety, on the surface you can be pretty sure it’s actually an apple. From there, you can make lots of assumptions about it, like how it will taste when you bite into it and what will happen if you plant the seeds in your yard.
With cancer, we can’t make those kinds of assumptions. While two tumors from the same location in two patients may look the same, doctors and researchers have come to recognize that their behavior and the mutations driving them can be radically different, as can their response to therapy.
With that recognition, physician/scientists like Scott Pomeroy, MD, PhD, the neurologist-in-chief at Boston Children’s Hospital, are taking a deeper look at the tumors they commonly see and asking whether what on the surface looks like one kind of tumor might actually be something completely different. Pomeroy in particular has applied this view to one of the biggest questions in pediatric cancer: Why do medulloblastomas, the most common malignant childhood brain tumor, behave so differently from child to child? …
Leukemia and other cancer cells are really good at hurdling over the obstacles we throw at them. It’s the whole basis of drug resistance: we attack a mutation with one drug, and another mutation arises to cancel out the drug’s effect. Or the cell ramps up other pathways to compensate for the one blocked by the drug.
If there’s one thing most patients with sickle cell disease will agree on, it’s that sickle cell hurts. A lot.
The characteristic rigid, sticky, C-shaped red blood cells of this inherited disease tend to get stuck in the small blood vessels of the body. If so many get stuck in a vessel that they cut off blood flow, the body sends out a warning signal in the form of searing pain that doctors call a pain or vaso-occlusive crisis (at least, that’s the historic view; more on that in a minute). The pain can happen anywhere in the body, but most often occurs in the bones of the arms, legs, chest and spine.
Preventing flare-ups—and stopping them when they happen—is a major part of the care plan for any patient with sickle cell. Right now doctors try to avoid pain crises largely by diluting a patient’s blood with fluids or transfusions, thereby keeping the numbers of sickled cells relatively low.
What these treatments don’t do is tackle the pain directly. Doctors can use pain medications, but over time, patients can become tolerant to painkillers, requiring ever-larger doses. What’s needed is something that can stop the complex cascade of events that ignite a pain crisis. …
In some children the body’s machinery for making red blood cells just doesn’t work right. Conditions like Diamond Blackfan anemia or thalassemia can leave the body anemic, struggling to keep up with its own demands for oxygen. And the misshapen red blood cells of sickle cell disease can get stuck in small blood vessels and cause anemia, organ damage and great pain.
Right now, the most effective way to care for these blood disorders is with blood transfusions. But unlike trauma or surgery, a single transfusion doesn’t solve the problem for people with life-long anemias or sickle cell. Most people with thalassemia, for example, have transfusions every month for their entire life.
“After about 20 transfusions, you reach a point where the body is overloaded with iron from all of the extra hemoglobin that’s been introduced into it,” says Ellis Neufeld, MD, PhD, director of the Thalassemia Program at Dana-Farber/Children’s Hospital Cancer Center (a partnership of Boston Children’s Hospital and Dana-Farber Cancer Institute). “The body has no way to actively remove iron on its own, so the iron starts to build up.” Over time, this can damage the liver, heart, pancreas and other major organs.
Over the last 40 years, a lot of work at DF/CHCC and elsewhere has gone into what’s called chelation therapy: drug-based treatments that scrub the blood of excess iron. Right now there are three chelating drugs in broad use: deferoxamine, deferasirox and deferiprone. They work well for many patients, but have their disadvantages. …
Cancer. Trauma. Sickle cell disease. Surgery. There are many reasons why a child might need a blood transfusion, but they all share a common theme: the need to replace blood or blood products (e.g., red blood cells, platelets) that have been lost or consumed, or make up for defects that keep the body from producing them in adequate amounts.
And though transfusions can be life saving, they come with risks, such as iron overload, inflammation or disease (a very low risk, thanks to improved screening tests). And blood products are expensive and scarce—another reason to be prudent about transfusions.
“There’s little science behind physicians’ current practices when deciding when to transfuse a patient,” says Jenifer Lightdale, MD, MPH, of Boston Children’s Hospital’s Division of Gastroenterology and Nutrition. “Many doctors use criteria their mentors passed down to them, which their mentors passed down to them, and so on. But ideally, the decision should be based on evidence, not tradition.” …
Brain tumors can be very difficult to treat, but at least we know what to do about them. For years, a mix of surgery, radiation and chemotherapy has been used to treat brain tumors like medulloblastoma.
These treatments are fairly successful, but for a rare, almost always fatal tumor called diffuse intrinsic pontine glioma (DIPG), we haven’t had any success—in fact, we haven’t known where to start.
The problem has to do with where DIPGs are located: nestled among the nerves in a portion of the brain stem, the pons, that controls critical functions like our breathing, blood pressure and heart rate.
“For 40 years, we lacked the neurosurgical techniques to biopsy DIPGs safely,” say Mark Kieran, MD, PhD, director of the Brain Tumor Program at Dana-Farber/Children’s Hospital Cancer Center (DF/CHCC). “In fact, one of the first lessons every oncologist is taught still is, ‘Don’t biopsy brain stem gliomas.’ The dogma was that the risk of severe or fatal damage was too great.” And because we couldn’t biopsy them, we couldn’t study them to learn what makes them tick.”
A lot can change in four decades. Techniques for operating on the brain have advanced considerably, as have the tools for probing tumors at the molecular level. So, looking to turn the dogma about DIPGs on its head, Kieran has launched a clinical trial that aims to use advanced surgical and diagnostic tools to target and individualize DIPG treatment. …
The news that your child has cancer always comes as a shock, but for one cancer, acute lymphoblastic leukemia (ALL), parents can take comfort in the fact that doctors are really good at treating it. The cure rate for ALL has, over the last 40 years, climbed to nearly 90 percent.
Less comforting is the fact that some 10 to 20 percent of children who initially respond well to treatment suffer a relapse within five years. And right now, the drugs at our disposal aren’t very good at turning a relapse back into a remission.