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In 2011, Mary Ellen Kelly was diagnosed with myelodysplastic syndromes (MDS), a disorder in which the bone marrow does not produce enough healthy blood cells. As a result, her red blood cells often do not mature and function properly, causing anemia. Other blood cells, such as white blood cells and platelets, may also be affected, but the most common sign in MDS is a shortage of red blood cells. In order to maintain her health, Kelly’s priorities have shifted to focus on managing her condition. A significant part of this management involves receiving frequent blood transfusions, which treat her MDS-associated anemia and help with her excessive fatigue – one of the most prevalent symptoms among patients with MDS.

Neil Horikoshi, CEO of the Aplastic Anemia & MDS International Foundation, advocates for patients like Kelly and is vocal about the struggles they face. “Everyone with MDS will experience some fatigue, even if they have improved blood counts after transfusions,” said Horikoshi. “It’s the nature of bone marrow failure disorders.”

Patients are feeling the exhaustion. According to a survey, one-third of patients describe transfusions as a burden to their family, and two-thirds would prefer a therapy that lessens their need for transfusions. For this year’s National Aplastic Anemia and MDS Week, Kelly provides a diary detailing five days during one of her transfusion weeks to raise awareness of how her chronic and rare disease affects her daily life.

Monday: Blood Work

For Kelly, each week begins with a 20-minute drive to her local hospital for a blood test to check her red blood cell count. “If it’s too low, the doctors and nurses schedule a transfusion for me within the next day or two,” Kelly said. “The lower my count, the more units of blood I’ll receive. Typically, it’s one. But if it’s extremely low, I get two.”

Each visit takes about three hours. By the time she gets home in the late afternoon, Kelly is ready for a nap. In fact, she typically naps for about an hour every afternoon due to the persistent fatigue associated with MDS. In one survey, 89 percent of patients with MDS reported experiencing excessive fatigue—a persistent sense of physical, emotional and cognitive exhaustion.


MARY ELLEN KELLY HAS BEEN LIVING WITH MDS-ASSOCIATED CHRONIC ANEMIA SINCE 2011 AND RELIES ON HELP FROM HER SISTER FOR DAILY TASKS WHEN SHE IS FATIGUED.

 

Tuesday: Yoga, Laundry and Shopping

In addition to naps, Kelly manages fatigue by attending yoga classes twice a week. This also helps her to manage her stress and to sleep better at night. “I find that it gives me more energy to get through the day,” Kelly said.

Energy is something that she tries to conserve as much as possible. She sets priorities, paces herself and asks her sister to help with chores, such as grocery shopping and carrying the laundry up from the basement.

“My pace of walking is slower than most people’s, and I have a hard time walking upstairs,” Kelly said. “I avoid really big stores because I can’t deal with all the walking. I can’t run around the store and get something quickly.”

Fatigue often affects other patients with MDS in a similar way. About 25 percent of patients report that it takes an effort to engage in normal activities, and 16 percent said they could not perform active work at all.

I devote a lot of time to my blood transfusions. It’s not what I want to be doing, but I’ve gotten used to it…

NEIL HORIKOSHI

NEIL HORIKOSHI CEO OF THE APLASTIC ANEMIA & MDS INTERNATIONAL FOUNDATION BELIEVES THAT BONE MARROW FAILURE DISORDERS HAVE A SIGNIFICANT IMPACT ON THE LIVES OF PATIENTS AS WELL AS THEIR CAREGIVERS.

Wednesday: Blood Transfusions

By Wednesday, Kelly is ready to go back to the hospital for a transfusion to boost her blood count levels. While transfusions do not treat the underlying disease, they do help to relieve the symptoms of her chronic anemia.

The transfusion process can also be lengthy and draining. “If I’m getting one unit of blood, it takes about a half day,” Kelly said. “If it’s two units, it could be seven to eight hours depending on the wait time.”

When she was still working as a paralegal, Kelly couldn’t afford to take time off for her transfusions. So she would bring her laptop and work from the transfusion center.

Now, three years into retirement, Kelly spends her time in the transfusion center napping, reading books or catching up on the news. On most of these days, she is alone.

“I devote a lot of time to my blood transfusions,” Kelly said. “It’s not what I want to be doing, but I’ve gotten used to it over the years.”

Thursday: A Free Day to Plan for Some Fun

What Kelly would prefer to be doing is traveling more. In June, she’s going to see her favorite singer, Barry Manilow, perform in Las Vegas.

“Sometimes, I take trips during the year,” Kelly said. “But I cannot be gone longer than a week at most, because I need my treatments. So, I could never go to someplace like Australia.”

The few times she did travel for longer stretches, Kelly felt like she pushed her limits. Earlier this year, she had to get a blood transfusion a couple of days after returning from a weeklong cruise because her blood levels were so low.

For the most part, though, Kelly spends her free time gardening in her backyard, meeting friends for lunch or dinner, or going to the theatre or movies. She’s recently seen—and highly recommends—A Star Is Born.

Friday: More Medical Appointments

Aside from the hours spent in the hospital for blood tests and transfusions, Kelly also has regular follow-up visits with her doctors, during which she gets a check-up and has the opportunity to discuss her symptoms and treatments.

Her doctors watch for warning signs that her MDS is progressing to acute myeloid leukemia (AML). Kelly counts herself as lucky to have low-risk MDS, with only a 20 percent chance of developing AML. Others with high-risk MDS have more than double the chance of progressing to AML.

With such a high risk of progression, attention to treating MDS and other bone marrow failure disorders is increasing, according to Horikoshi. For instance, over the past decade, Congress has invested more than $35 million in research for the prevention and treatment of bone marrow failure diseases through the Congressional Directed Medical Research Program.

For patients like Kelly, treatment advances cannot come soon enough. “I hope researchers find better treatments for MDS. But for now, and for as far as I can see, MDS is a significant part of my life,” she said.

To learn more about the progress in understanding MDS, read “Searching for New Ways to Help Red Blood Cells Mature in Myelodysplastic Syndromes.”

In patients with myelodysplastic syndromes (MDS), a cancer in which the bone marrow does not make enough healthy blood cells, red blood cells may not mature and function properly. As a result, about 85 percent of patients with MDS develop serious anemia. Since roughly half of patients do not respond to current therapies aimed at increasing red blood cell production, many end up relying on frequent transfusions to treat the symptoms associated with anemia.

Sandra Kurtin, Ph.D., ANP-C, AOCN, University of Arizona Cancer Center, believes MDS will be in the spotlight at this year’s American Society of Hematology (ASH) annual meeting. In a Q&A, Kurtin discusses current research to uncover why red blood cells don’t mature properly in MDS and how targeting different stages of their maturation may lead to much-needed new therapeutic options.

Anemia Treatment MDS

What advances in the research of MDS will hematologists learn about at this year’s ASH meeting?

“The International Working Group for the Prognosis of MDS will be meeting to look at the molecular underpinnings of MDS and to identify groups of patients by risk. We’ll be looking at some molecular targets for potential new therapies in MDS.

During the meeting, I look forward to seeing data about some of the novel pathways implicated in the development of blood cancer in certain groups of patients. Researchers now believe that certain mutations within these pathways may help predict survival chances for some patients with MDS.”

Why has developing effective therapies for MDS been challenging?

“MDS is complicated. It’s been difficult to pinpoint a single pathway that overcomes the abnormalities inherent in MDS. For instance, the tumor cells’ surroundings, known as the microenvironment, may play a role. Current therapies target cancerous cells, but may not be targeting the microenvironment. Additionally, molecular abnormalities and abnormalities in the spliceosome are known to contribute to the pathobiology of MDS. Today, the only potential cure is a stem cell transplant, but many patients may not be eligible for one.”

Why is a stem cell transplant not an option for most patients?

“While some patients may not warrant immediate treatment, the only way to overcome the abnormalities of MDS is to replace the genetic profile through an allogeneic bone marrow transplant. But that is associated with several risks. Transplantation is typically considered for patients with higher-risk MDS.

Usually, patients have to be younger than a certain age and otherwise healthy. Some centers are now allowing transplants up to the age of 75. The median age of diagnosis for MDS patients is 76.”

What other treatment strategies are being explored for MDS?

“Treatment for lower-risk MDS is aimed at improving cytopenias, including anemia and reducing the need for transfusions. Meanwhile, the primary treatment goal for higher-risk MDS is to extend survival.

Doctors use treatments such as erythropoietin to stimulate the red blood cell production in some patients with lower-risk MDS. An unmet medical need remains in patients that do not respond or do not maintain response to supportive treatment.”

Now we’re coming to realize that transcription factors and other molecular attributes also regulate the production of these cells.

How are researchers working to understand the biological mechanisms that lead to MDS?

“Pathologists are still exploring the ‘normal’ process by which blood stem cells commit and differentiate to form all the different types of blood cells within the bone marrow. We used to think that the process was primarily driven by growth factors. Now we’re coming to realize that transcription factors and other molecular attributes also regulate the production of these cells.”

What are the most important unanswered questions in MDS research?

“We’re trying to understand why MDS is such a heterogeneous disease. Why do some patients have a slow-growing disease while others have a more aggressive malignancy? What are the mutations that make it different? We’re trying to identify targets for drugs within those mutations.

Among the therapies highlighted at ASH will be those aimed at novel targets. Some new therapies are combination regimens using different classes of drugs, and some are novel single-agent therapies that may be combined with other treatments in the future. Therapies approved for acute myeloid leukemia, which evolves from MDS, are also being explored for MDS. There’s finally a lot of exciting research after all these years.”

To learn more about these rare cancers are negatively impact the daily lives of patients, read “New Survey Reveals Myelodysplastic Syndromes Leave Patients Feeling Fatigued.”

While understanding the impact of myelodysplastic syndromes (MDS) on the lives of people diagnosed with these blood cancers can help inform their care, assessments of quality of life in MDS have been, for the most part, lacking.

But a recent survey commissioned by the MDS Foundation, Inc. is helping to fill that gap, to shed some much-needed light on the experience of patients and their caregivers. According to the results, many people with MDS surveyed said that fatigue had a significant impact on their daily lives.

“The number one complaint that we hear, by far, from patients with MDS is that they don’t have the energy to do the things that make them feel like they’re living,” said Tracey Iraca, executive director of the MDS Foundation, which is raising awareness of quality-of-life issues during this year’s MDS World Awareness Day. “There are so many little things we take for granted that these people struggle with.”

A Closer Look at the MDS Symptom of Fatigue

Tracey Iraca

TRACEY IRACA, EXECUTIVE DIRECTOR OF THE MDS FOUNDATION, INC., BELIEVES A BETTER UNDERSTANDING OF HOW MYELODYSPLASTIC SYNDROMES AFFECT PATIENT LIVES IS THE FIRST STEP TOWARDS IMPROVING THE MANAGEMENT OF THE DISEASE.

The fatigue and tiredness that people with MDS experience interferes with their daily activities, according to the survey. Patients surveyed reported that they often struggled with tasks such as cooking, cleaning, shopping, climbing stairs and taking care of their pets. Several respondents said that they relied on other people to complete many of those chores.

“My house is not nearly as clean since [I was diagnosed with] MDS,” one person responded. “I am exhausted a lot of the time. I can only work short times, and I have to sit down—then I usually fall asleep.”

Some people reported feeling tired all day, every day, while others only experienced exhaustion in the afternoon. Some also said that naps in the afternoon had become a necessity in their everyday life.

Fatigue drains people with MDS not only physically but emotionally, according to the survey. People with MDS reported losing patience with themselves and worrying about their loss of independence. Several also said they experienced feelings of isolation and loneliness from not being able to visit their family and friends.

Why Fatigue Is a Symptom of Myelodysplastic Syndrome

It didn’t surprise Iraca that fatigue was of significant concern for people with MDS. She has heard it dozens of times over the past decade at the Foundation. And she understands why.

In MDS, the bone marrow doesn’t produce enough healthy red blood cells, which transport oxygen to different cells and tissues. Young red blood cells are then inhibited from properly maturing, caused by what is known as erythroid maturation defects.

“The normal development of all blood cells is a complex process that relies on both stem cells and the environment within the bone marrow,” explained Sandra Kurtin, board member of the MDS Foundation, assistant professor of clinical medicine and assistant professor of nursing, The University of Arizona Cancer Center. “This process goes awry in MDS due to a variety of issues.”

As a result of this ineffective development of red blood cells, up to 90 percent of people with MDS have low red blood cell counts, a condition known as anemia. Without enough healthy red blood cells to transport oxygen, it leaves people feeling continuously tired and weak throughout the day.

“Patients are becoming much more aware of what’s happening—they are learning to talk with their doctor about their fatigue and other symptoms of anemia.”

Managing MDS Linked Anemia

Understanding how MDS affects the daily lives of people is the first step toward improving care for the thousands living with this disease. When people with MDS, doctors and caregivers discuss the complete patient experience, they can address what matters most.

“Patients are becoming much more aware of what’s happening—they are learning to talk with their doctor about their fatigue and other symptoms of anemia,” Iraca noted. “We want to educate people to identify these symptoms earlier on so that they can get treatment sooner for anemia.”

People with MDS may receive red transfusions to raise their low blood counts and antibiotics to prevent or fight infections. Some people may also receive a bone marrow transplant, chemotherapy, or other treatment options. Iraca is hopeful that research will help us learn more about the disease and how to treat it.

“Researchers are working to identify genetic defects in MDS so that they can develop therapies to target them,” Iraca said. “The research that’s happening now makes us hopeful.”

To learn about the high unmet need for people with MDS, read “Why I Advocate for People with Myelodysplastic Syndromes.”

On the wall next to her computer, Tracey Iraca, Executive Director of the Myelodysplastic Syndromes (MDS) Foundation, Inc., keeps a photo of former board member Bob Weinberg and his dog, Milkshake.

EARLIER THIS YEAR, TRACEY IRACA WAS NAMED THE NEW EXECUTIVE DIRECTOR OF THE MYELODYSPLASTIC SYNDROMES FOUNDATION.

EARLIER THIS YEAR, TRACEY IRACA WAS NAMED THE NEW EXECUTIVE DIRECTOR OF THE MYELODYSPLASTIC SYNDROMES FOUNDATION.

When Weinberg was diagnosed with MDS in 1998, doctors offered him a stem cell transplant, a risky procedure that could have ended or extended his life. Like many, he struggled with finding a suitable match.  Weinberg decided against the procedure because there was no guarantee he would be able to live his life “without limits” and he did not want to risk the opportunity to see his daughter grow up.

Fifteen years later, when Weinberg’s condition deteriorated, he tried to get a transplant but was too sick to qualify. He passed away shortly thereafter.

“Deciding whether to get a transplant is a difficult decision for MDS patients,” Iraca said. “I think of Bob every time I talk with someone who is struggling with that decision.”

With limited treatment options, many of the estimated 60,000 MDS patients in the United States today still face difficult choices. Iraca is hoping to raise greater awareness of this issue during this year’s MDS World Awareness Day and through her new role at the foundation.

Unaware and Underdiagnosed

Iraca was first hired by the foundation in 2004, as a patient coordinator to write thank you notes to donors and send requested information to patients. Like many of the patients she sent information, Iraca knew little about this rare disease in which the bone marrow does not make enough healthy blood cells. But as she took on more responsibilities, she began to understand the unique challenges that MDS patients face.

One of those challenges is that the disease is difficult to diagnose, often leading to treatment delays. Not all primary care physicians are aware of this rare disease, so they may not recognize low blood counts as a reason to send patients to a hematologist for a bone marrow biopsy, which is necessary to diagnose MDS.

“The biopsy needs to be examined by a pathologist who is a specialist,” she explained. “Patients need to understand how difficult the diagnosis is to make and that it’s ok to ask for a second opinion. It’s the patient’s right to get confirmation on a diagnosis of MDS.”

AS EXECUTIVE DIRECTOR OF THE MYELODYSPLASTIC SYNDROMES FOUNDATION, IRACA (FAR RIGHT) HAS BEEN MEETING PATIENTS AND LEARNING MORE ABOUT THEIR NEEDS FOR OVER 13 YEARS.

AS EXECUTIVE DIRECTOR OF THE MYELODYSPLASTIC SYNDROMES FOUNDATION, IRACA (FAR RIGHT) HAS BEEN MEETING PATIENTS AND LEARNING MORE ABOUT THEIR NEEDS FOR OVER 13 YEARS.

As the MDS Foundation grew from its humble roots in a carriage house in Crosswicks, NJ, it began referring patients to over 175 MDS Centers of Excellence around the world to get proper diagnosis and treatment from specialists. These centers all have appropriately trained medical staff and meet other quality measures.

A Matter of Time

Since joining the foundation, Iraca has seen considerable improvements in the medical understanding of MDS. The number of annual references to the disease in scientific publications has increased 33 percent over the past decade, from 739 in 2007 to 980 in 2016. That research has helped uncover the role that the immune system plays in the development of MDS.

Despite that progress, treatments advances for MDS have been few and far between over the past decade. Stem cell transplants remain the only potential cure. But, as Weinberg’s experience exemplified, that approach comes with risks that some patients don’t want to take, and many other patients are ineligible because of their health.

The field is changing, and so much research is happening. We have many reasons to be hopeful for the future of MDS.

Most patients rely on supportive therapy such a transfusions to raise their low blood counts and treatments for infections. As a result, the median survival for high-risk MDS is still just two years.

“The good news is we’ve raised awareness of the need for new treatments through MDS World Awareness Day and throughout the year,” Iraca said. “So now there are more than 1,700 MDS ongoing clinical trials today. We’re extremely hopeful that there will be new options in the not-so-distant future. It’s only a matter of time at this point.”

Standing Room Only

Given the rise in MDS research, the foundation realized the need to educate patients and professionals alike. So they began hosting patient forums, support groups and international conferences focused specifically on the disease.

It’s at these events that Iraca continues to find inspiration from patients and family members who gather to learn more about MDS. She sees their excitement when meeting researchers and asking them questions. They learn coping mechanisms and ways to manage treatment side effects from other patients.

IRACA (SECOND FROM LEFT) AND COLLEAGUES HAVE TRAVELED AROUND THE WORLD HIGHLIGHTING THE NEED FOR MORE MDS RESEARCH AT MEDICAL CONFERENCES, INCLUDING THE 21st CONGRESS OF THE EUROPEAN HEMATOLOGY ASSOCIATION IN COPENHAGEN.

IRACA (SECOND FROM LEFT) AND COLLEAGUES HAVE TRAVELED AROUND THE WORLD HIGHLIGHTING THE NEED FOR MORE MDS RESEARCH AT MEDICAL CONFERENCES, INCLUDING THE 21st CONGRESS OF THE EUROPEAN HEMATOLOGY ASSOCIATION IN COPENHAGEN.

“So many newly diagnosed patients and families are scared,” she said. “It’s hard to sit through a program without getting emotional sometimes. But finding someone who is going through the same thing you are is so helpful to patients. You can see them starting to feel better at these events as they learn more about the disease and build relationships with other patients and caregivers.”

As for working with professionals, the MDS Foundation is expanding its educational efforts. They sponsor an international conference every other year and are looking to adding more regionally based professional events in the off-years in countries such as Australia, Brazil and Israel.

They have also established MDS-specific sessions during general medical conferences, including the American Society of Hematology annual meeting. Iraca has been surprised by the interest in and attendance at these sessions, which are often standing room only.

“They’re being trained on the most up-to-date research, which will trickle down to the patients,” said Iraca. “The field is changing, and so much research is happening. We have many reasons to be hopeful for the future of MDS.”

To learn how research is leading to new, more personalized treatment options for MDS patients, read “Hope through New Research into Myelodysplastic Syndromes.”

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DR. RAFAEL BEJAR, AN ASSISTANT PROFESSOR AT THE UNIVERSITY OF CALIFORNIA, SAN DIEGO, BELIEVES THAT RESEARCHERS WILL MAKE SIGNIFICANT PROGRESS IN THE TREATMENT OF MYELODYSPLASTIC SYNDROMES PATIENTS.

DR. RAFAEL BEJAR, AN ASSISTANT PROFESSOR AT THE UNIVERSITY OF CALIFORNIA, SAN DIEGO, BELIEVES THAT RESEARCHERS WILL MAKE SIGNIFICANT PROGRESS IN THE TREATMENT OF MYELODYSPLASTIC SYNDROMES PATIENTS.

For patients with myelodysplastic syndromes (MDS) — bone marrow disorders that affect blood cell production — the early 2000s were a time of advancement, when several new treatment options were approved. But since then, research and treatment advances have been minimal.

Now, as researchers gather for the 2017 International Symposium for Myelodysplastic Syndromes this week, there is renewed hope. With a better understanding of the how the immune system and genetic mutations contribute to the disease, experts believe that new treatments may be around the corner. Dr. Rafael Bejar, an Assistant Professor at the University of California, San Diego, explains why he’s looking forward to this year’s event.

What are some of the challenges in treating MDS?

We’ve been relying on three medications that were approved over 10 years ago. These medications have freed some patients from the need for blood transfusions, improved their blood counts and likely extended their lives. But not everybody responds to these therapies. We need more therapeutic options to treat the disease in different ways. When you have multiple medications to choose from, you can also start profiling patients to predict which treatment is going to be best for them allowing you to further personalize care.

What has made medical advances in MDS so difficult?

MDS is very different than many other cancers. With its elderly and often frail patient population, we have to find medications that are not only effective but also tolerable and safe.

To do this, we must understand the disease better than we do today. MDS cells don’t grow well in the laboratory, making them difficult to study.

What recent advances will be highlighted at this year’s symposium?

One of the fascinating new discoveries in the last few years involves how the innate immune system may be involved in the development of MDS. We have learned that MDS cells create inflammation and thrive in this environment. We may be able to target this particular type of inflammation with medications and therapeutic antibodies in order to make MDS cells more vulnerable. This approach has yet to be thoroughly tested clinically, but the research in this area could provide a rich set of therapeutic targets.

There is also growing interest in how B and T cells, which form our adaptive immune system, might play a role in MDS. Researchers are now exploring various types of immune approaches for the treatment of MDs. This exciting research involves understanding how the immune system reacts to MDS cells.

If we can make this disease more manageable, patients will end up living better lives and dying with MDS and not of MDS.

What are researchers learning about the biology of MDS? How are those insights helping us to treat patients?

We’re using mutations to help identify patients who are more likely to respond to a given therapy. Genetics has begun to tease apart different subsets of MDS with distinct patterns of mutations and important differences in clinical outcomes. For example, patients who have mutations in a gene called SF3B1 tend to do relatively well. But patients who have mutations in TP53 usually have more aggressive disease and an overall poorer prognosis. We‘ve always tailored our treatments to our perceptions of how patients are likely to do with their disease, but now we can use more accurate methods to help predict that prognosis.

Some of the new science is also informing the diagnosis of MDS, correct?

Right now, many people who have unexplained low blood counts are left without a diagnosis. They don’t meet the current diagnostic criteria for MDS. But we’re learning that about 40 percent of these patients have mutations associated with MDS. This data supports adding DNA sequencing and mutation tests to our diagnostic workup for these patients. We may need to expand the umbrella of what we consider MDS to include patients with an MDS-like condition that is likely to progress. And, we may be able to tell those patients without these mutations that they’re likely to do well without treatment.

How optimistic are you that we will see more treatment advances soon?

MDS is certainly an area where there’s a lot in development and a lot to feel hopeful about. However, stem cell transplants currently remain our only potential cure. While advances are making transplants safer and more effective, we’ll still need other treatment options for the majority of patients who cannot receive a stem cell transplant. There are several new targets to explore, including inflammatory cascades, immune checkpoint inhibitors, apoptotic pathways and mutated splicing factors. When we succeed we’ll be attacking the disease from many different angles. With these potential new targets, we are looking to make tremendous progress in how we treat patients. If we can make this disease more manageable, patients will end up living better lives and dying with MDS and not of MDS.

To learn more about this blood disorder, read “What Are Myelodysplastic Syndromes?”

Being diagnosed with a rare disease like myelodysplastic syndromes (MDS) is scary, especially if you’ve never even heard of the disease. Sharing your experience with others who’ve been in a similar situation can be empowering. MDS patient Ray Malles, who’s lived with MDS for nearly a decade, shares his thoughts on why it’s important for patients to swap stories.

How long ago were you diagnosed with MDS?

I was diagnosed November 2006, when I was 76. We spent our winters in Florida, and my wife and I were told by our doctor to see a hematologist after some tests. When we approached the building, we saw that it said “Florida Cancer Institute” and just looked at each other. When the hematologist told me that I had MDS, I said, “What’s that?”

How did you react?

I’m the kind of person who doesn’t just do what others tell me. I wanted to know everything about my disease. I rolled up my sleeves, read articles and contacted the MDS Foundation. Somewhere around 2011, my doctors told me that my numbers were dropping and recommended a blood transfusion. I had learned enough about the complications associated with blood transfusions and told them that I didn’t want it. So we explored other treatment options that have been working just fine for me so far.

I don’t think that patients should feel like they are hostages. They shouldn’t put their heads in the sand and never question anything.

It seems like being an active participant in your treatment is important to you. Do you see that in other MDS patients as well?

There are all kinds of people that make up this world of ours. I don’t think that patients should feel like they are hostages. They shouldn’t put their heads in the sand and never question anything. I want to know what my disease is and what the side effects of my treatment are.

Are there other ways that you have made your voice heard?

I’ve produced a series of YouTube videos to educate people on MDS and have attended several MDS patient forums. I’ve become a very big patient advocate of those forums. After my diagnosis, my daughter discovered that one was taking place in Philadelphia, so all three of us—my daughter, my wife and I—participated. I’ve learned a lot from talking with other patients and have given presentations in my community. Patient-to-patient communication is very important for MDS patients, or any patient with a rare disease.

When you talk with other patients, what do you hope they take away?

Doctors sometimes throw these big words around, and that can be intimidating. Hopefully, I’m encouraging them to be an active participant in their treatment. Let me give you an example. My daughter works for a medical practice in North Carolina and has been in contact with two other people over the past 8 years with MDS. She reached out to them and asked if they would like to speak with me. I answered their questions from my perspective, and they were very appreciative.

Since the Orphan Drug Act of 1983, the U.S. Food and Drug Administration has approved over 500 treatments for rare diseases. What advice would you give to the FDA with regard to new treatments for rare diseases?

I once attended a session about the number of steps involved in the clinical trial and drug approval process. I know that the objective is to protect patient health and make sure the therapies are safe for patients. But 10 years to move a treatment from concept to market? There are a lot of patients who can benefit during that time. The FDA should do everything that they can to remove any unnecessary barriers to getting therapies approved as quickly as possible.


This article was originally published February 29, 2016.

By Tracey Iraca, MDS Foundation

Myelodysplastic syndromes (MDS) represent a group of rare bone marrow failure cancers most common in the older adult population, with a median age of onset of 73 years. Healthy bone marrow produces immature blood cells — called stem cells, progenitor cells or blasts — that normally develop into mature, fully functional red blood cells, white blood cells and platelets. In MDS, these stem cells may not mature and may accumulate in the bone marrow or they may have a shortened lifespan, resulting in fewer than normal mature blood cells in the circulation. Low blood cell counts are a hallmark feature of MDS and are responsible for some of the symptoms that MDS patients experience — infection, anemia, spontaneous bleeding or easy bruising.

MDS remains an incurable disease in the absence of an allogeneic bone marrow transplant, which is not an option for the majority of MDS patients.

MDS remains an incurable disease in the absence of an allogeneic bone marrow transplant, which is not an option for the majority of MDS patients due to their age, having other illnesses and not having a caregiver that is able to provide complex care daily for several months following the transplant. There are only three FDA-approved disease-modifying agents for the treatment of these diseases, all of these being developed through clinical trials. Unfortunately, the estimated clinical trials enrollment in the United States for cancer patients is approximately 4 percent of the total cancer patient population. When considering the older adult and rare diseases such as MDS, this number is estimated to drop below 2.5 percent.

In addition, the majority of health care is provided in the outpatient setting with only brief episodes of health care provider interaction. Caregivers, including partners/spouses, other family members and friends, are expected to assume a primary role in providing medical and personal care and support of the patient with little or no formal training. Many patients and caregivers may be overwhelmed and are at increased risk for anxiety, depression, fatigue and other physical and psychological distress. The MDS Foundation, Inc. works to provide hope with innovation in science, advocacy and most importantly support of patients and caregivers living with MDS.

Join the MDS Foundation online at http://www.mds-foundation.org/membership/, on Twitter (@MDSFoundation) and on Facebook (MDS Foundation, Inc.).


This article was originally published October 24, 2015.

Possibly the only thing more frightening than being diagnosed with cancer is learning you have a form of the disease you’ve never heard of. That’s exactly what Robin Roberts, host of “Good Morning America” felt in 2012, at the age of 51, when she was diagnosed with a rare form of blood cancer. “It is something called MDS—myelodysplastic syndromes,” she announced to her viewers, admitting that she didn’t know what exactly it was at the time. “If you’re going… what? I was doing the same thing.”

MDS is a type of cancer in which the bone marrow does not make enough healthy blood cells, and instead abnormal cells take over the bone marrow or blood. In healthy people, the bone marrow contains stem cells (immature cells) that eventually become mature, functional blood cells. They may become red blood cells to carry oxygen, white blood cells to fight infections, or platelets, which stop bleeding by forming clots.

But in patients with MDS, the young blood cells do not mature correctly and instead die in either the bone marrow or the blood. As a result, there are fewer healthy blood cells, which can lead to infections, anemia (a lack of healthy red blood cells that carry oxygen throughout the body) or heavy bleeding. There are eight different types of MDS that can be diagnosed by identifying specific changes to the cells in the bone marrow and blood.

Certain risk factors increase the chance of developing MDS, including being male and older than 60, as well as having been exposed to tobacco, chemicals such as pesticides or heavy metals like mercury and lead. A person who has received radiation or chemotherapy is also at increased risk.

While symptoms are rare in early stages of the illness, over time patients can suffer from shortness of breath, easy bruising, exhaustion, frequent infections and tiny red spots under the skin. The risk of severe infections is especially serious. A recent study at the Cleveland Clinic reported that 100 out of 500 patients with MDS had had at least one infection that required hospitalization.

A patient’s outlook, or prognosis, often depends on several factors, including the number of blood cell types affected, prior radiation or chemotherapy, history of anemia, changes in the structure of the chromosomes, the amount of abnormal cells in the bone marrow, and the age and overall health of the patient.

Current treatment options for MDS include antibiotics to prevent or treat infections, transfusions, erythropoiesis-stimulating agents (which tell the body to make more red blood cells), immunosuppressive therapy (which weakens the immune system), chemotherapy, disease-modifying therapies and bone marrow transplants, which currently offer the only chance for a true cure.

John Huber, executive director of the Aplastic Anemia and MDS International Foundation, acknowledges that bone marrow transplants would be an ideal fix if only it worked for everyone. “If the transplant works, you’re cured,” he said. “But bone marrow transplants are not 100 percent for every patient.”  In fact, the rate of success is only about 20 to 40 percent.

That’s partly because the patient needs to find a donor with marrow very similar to his or her own. Roberts was fortunate that her older sister was the right bone marrow match, as siblings have roughly a one in four chance of matching.

The TV anchor, who had previously survived breast cancer after undergoing chemotherapy a few years before, learned she had MDS the same day ”Good Morning America” beat its rival “The Today Show” in ratings for the first time in 16 years. And while undergoing tests before the transplant, Roberts learned that she would be interviewing President Barack Obama the next day, a high point in her already very successful career.

These positives helped motivate Roberts. “I’m like everyone who faces some life altering situation,” she said on the episode of her announcement. “It’s about focusing on the fight and not the fright.”

For many patients, a bone marrow transplant isn’t an option, perhaps due to their age, other health-related issues, or the lack of a matching donor. In that case, other options are needed. New disease-modifying therapies are helping to improve quality of life for many patients with MDS. “Therapies and treatments can allow patients to live longer,” Huber said, and he expects even more options for MDS patients in the near future. “Exciting research is being done. That’s where the hope is.”