Scott Meech and his late sister, Anita, who was 14 years his senior, shared an unfortunate familial trait: Multiple Myeloma, an incurable cancer of the plasma cells in the bone marrow that tends to afflict older adults, most often people over 65.
Anita was diagnosed after seeking emergency medical care for repeated infections and extreme pain in her chest, which turned out to be broken ribs. The cancer, already at an advanced stage, had caused multiple osteolytic lesions throughout her skeleton, leaving her bones fragile. That kind of late-stage, emergency-room diagnosis is common with myeloma patients because many of the early symptoms, including fatigue, bone, and joint pain, as well as subtle signs that kidney function is changing, are frequently overlooked by patients and their physicians as maladies of aging or other illnesses.
In the months following her diagnosis, Anita suffered more broken bones and multiple infections. She died within a year of her diagnosis. She was 48 years old.
"There was no real point during the time my sister was sick when anyone was particularly optimistic about anything working because it wasn’t, and actually, some of the side effects from the very high doses of chemotherapy were pretty awful,” said Scott, who lives in Essex, England.
There was a huge amount of confusion and a lot of frustration that went along with that about the general lack of knowledge and treatment options.
Thankfully, a lot has changed since Anita’s diagnosis in 1999, said Luis Arthur Flores Pelloso, MD, PhD, who has contributed to the treatment of myeloma patients for more than 30 years, first in medical practice and now as executive medical director of Thermo Fisher Scientific’s Clinical Research business, which manages clinical trials for pharmaceutical companies developing tools and therapies to treat multiple myeloma patients worldwide. New therapies and diagnostic tools have enabled survival to increase from two to three years to more than 10 years for some patients, Luis said.
“The disease, nowadays, is considered more of a chronic condition because we have been putting patients into better treatment plans that produce excellent outcomes, elongate their remissions and allow for a better quality of life,” he said.
“For instance, researchers have found that adding a new immunotherapy drug to the first line of treatment reduces the chances of a patient getting worse or dying by about 40% to 60%, while also lengthening remission by roughly 15% to 20% after 4 to 5 years,” he said.
Scott is an example of that evolution.
Due to his sister's illness, Scott was identified as having a precursor condition. The family history and the precursor condition meant that Scott was at higher risk of developing Multiple Myeloma. Scott was monitored with blood tests for almost two decades. One of those tests, an assay called Freelite®, was launched in 2001 by the Binding Site, part of Thermo Fisher Scientific. Then, in 2018, abnormal test results confirmed that he had developed myeloma. The result, he said, is a cancer journey drastically different than his sister’s.
I can honestly say that I've never felt any of the symptoms of myeloma,” Scott said. “That is a stark contrast to my sister’s experience having the damaging symptoms of advanced disease.
To understand why early diagnosis is so important to improved outcome, the complexity and challenges of myeloma must be considered. It is an incurable and heterogeneous disease. There is no typical journey and no one-size-fits-all treatment.
Diagnosis usually occurs after the cancer has damaged organs and formed multiple lesions in the patient’s bones. Once treatment begins, patients experience treatment responses and disease relapses. Often, myeloma becomes resistant to a therapy, challenging doctors to find a subsequent treatment that will work. On average, a myeloma patient receives five different treatment protocols, Luis said.
Unequal odds, subtle signs
No one in the Meech family had heard of myeloma until Anita was diagnosed in 1998. Decades later, public awareness about myeloma remains low because it is an uncommon cancer, with only about 176,000 people worldwide diagnosed annually. Those diagnosed at younger ages, like Anita and Scott, tend to have a more aggressive form of disease.
Men have a slightly higher rate of the disease than women. People of Black ancestry are two to three times more likely than White people to develop myeloma, and studies have shown they present with the disease at a younger age and have more advanced symptoms, such as anemia, renal dysfunction, and elevated calcium levels.
Asian American and Pacific Islander populations have noticeably lower myeloma incidence rates than the U.S. White population, though estimates of the magnitude of the reduction vary by geographic region.
The reasons for these variations in disease risk and severity are still unknown.
Research suggests that both genetics and environmental factors may play a role in the development of myeloma, though there is no known inherited genetic mutation that is the driver of the disease, as there is in other cancers, such as breast, prostate and lung cancers, said Professor Stephen Harding, Vice President and General Manager of the Binding Site, part of Thermo Fisher Scientific. There is also no recommendation for screening for myeloma at a certain age, as there is for some other cancers. However, ongoing studies aim to determine whether recommended targeted screening at a specific age could contribute to earlier diagnosis and potentially improve outcomes.
Scott said that, in retrospect, he believes he was fortunate to know he was at risk of myeloma as it enabled quarterly blood monitoring facilitating an early diagnosis and improving his journey.
Patients who do not know they may be at risk of developing the disease might spend months seeing medical specialists before they are finally diagnosed, Luis said.
A new era
When Anita was diagnosed in 1998, the most advanced approved treatment was a stem cell transplant to reinvigorate the bone marrow function, which had been severely impaired by the cancer. But it is a long, arduous, and highly toxic procedure for patients, particularly those who are elderly and frail due to myeloma’s damage.
Bone marrow produces red blood cells that carry oxygen to organs, white blood cells to fight infection, and platelets that help blood to clot. Myeloma occurs when a specific type of white blood cell, called a plasma cell, develops a genetic mutation and grows uncontrollably, crowding out healthy cells. This can cause anemia, bleeding and a weakened immune system. Meanwhile, the myeloma cells produce proteins that impact bone strength and monoclonal proteins, called M-proteins, which can build up in the blood and damage organs. They may also increase the likelihood of blood clots.
Scott’s bone marrow was tested to determine if he would be a viable donor for Anita. Though the test showed he would be an excellent donor, Anita was never strong enough to undergo the procedure.
The bone marrow test also revealed Scott had a precursor condition, called MGUS, that might develop into Multiple Myeloma. MGUS is short for monoclonal gammopathy of undetermined significance, an intimidating name for a condition in which the bone marrow produces M-proteins but where the patient does not meet the criteria for cancer.
MGUS is found in about 3% of people over 50, and 8% to 10% of people older than 70.
Most people with MGUS never develop myeloma. However, decades of research have shown that MGUS serves as a reliable warning signal, alerting to potential hazards ahead.
For Scott, the presence of MGUS, coupled with his sister’s diagnosis, meant he had an elevated risk of progression. Doctors explained that blood tests every few months would allow them to monitor Scott for signs that MGUS was evolving into myeloma. One of the signs being monitored was the concentration of monoclonal proteins. Monoclonal proteins may be either intact immunoglobulins or free light chains. Freelite assays, produced by the Binding Site, part of Thermo Fisher Scientific, measures free light chains. Together with techniques to measure intact immunoglobulins, these tests can diagnose 99% of myeloma cases.
It was pretty terrifying for a while,” said Scott. “My wife and I were in our early 30s and had two young children. It framed a lot of our lifestyle choices.
Early warning, better outcome
In 2018, when Scott was 52, his blood tests showed those tell-tale proteins suddenly rose to a level considered smoldering myeloma, a more advanced stage usually asymptomatic, before organ damage occurs. Several medical tests confirmed there was no visible damage from the myeloma, such as bone fractures or renal damage.
Scott’s medical team sprang into action, beginning with the first of many extremely painful biopsies. The biopsy revealed the rogue plasma cells had infiltrated about 85% of Scott’s bone marrow, a myeloma defining event. Organ damage was imminent.
Scott’s first-line therapy took almost a year and included powerful chemotherapy and an infusion of his own stem cells to restore his bone marrow.
The treatment worked.
“I had a great remission for around five years, with the help of continued monthly maintenance treatments,” Scott said.
Less pain, more precision
Scott made good use of this time, including volunteering with the non-profit Myeloma UK, a patient advocacy organization, as a mentor to fellow patients and a public speaker. One of his speaking engagements in 2024 brought him to the Binding Site facility in Birmingham, England, where the Freelite assays are made.
Scott explained that Freelite assays played a crucial role in helping him and his medical team stay ahead of his myeloma, which, for him, led to a much better outcome than his sister's. During a tour of the site’s lab, he learned that the Binding Site had received a CE mark, the European Union regulatory approval, for a new testing device, called the EXENT® System, that promised to further improve support for the diagnosis and management of myeloma patients.
The EXENT System
The EXENT System uses mass spectrometry to detect monoclonal proteins based on their mass and can identify them at very low concentrations in the patient’s serum. The monitoring support* function approved in Europe is key for myeloma patients because it may allow them to avoid a number of excruciating bone marrow biopsies, said Ste.
“No one wants three or four bone marrow biopsies a year,” he said. This improvement in patient care, Ste said, exemplifies the myeloma expertise that the Binding Site, part of Thermo Fisher Scientific has amassed over more than two decades. “We’ve only ever wanted to improve the outcomes of patients with multiple myeloma.”
The EXENT System has received regulatory clearance as an aid in the diagnosis and monitoring of multiple myeloma in Europe, Brazil, Australia and Canada. In the United States, it is 510(k) cleared for use to aid in the diagnosis of multiple myeloma.**
“The biopsy process is something that myeloma patients dread,” Scott said, “In the UK, the biopsy is done with a locally injected anesthetic. The injections numb the flesh but not the bone itself, so when the bone is penetrated, it can be pretty painful.”
There’s also a psychological benefit for the patient in having access to such sensitive testing, Scott said. With previous tests, when his protein levels would increase even slightly, Scott’s clinicians would tell him not to worry too much, since it could be a test variable or a reading error.
“But I do worry about it,” Scott said. “So having that specificity [of the EXENT System] is extraordinary. The more knowledge I have as a patient, and I’m sure I speak for a lot of patients, it gives us more confidence and more optimism that the right thing is being done.”
If you would like more information, your healthcare provider and patient support organisations can help. National myeloma societies and the International Myeloma Foundation offer educational resources and local support.
*The following information relates to uses of the EXENT Immunoglobulin Isotypes (GAM) for the EXENT Analyser test system that are authorized in certain markets outside the United States. Availability, indications, and regulatory status vary by country. The EXENT Immunoglobulin Isotypes (GAM) for the EXENT Analyser test system has not been evaluated for use in post-diagnostic patient monitoring of monoclonal gammopathies, in the USA.
This information is intended for healthcare professionals in regions where these uses are authorized.
**For full product information, please consult the product labelling.
U.S market information only: Rx only. Serum matrix only. Results require valid Optilite® IgG/IgA/IgM results on the Optilite Analyzer. For use as a reflex test when serum protein electrophoresis suggests an M-protein or when serum free light chains are abnormal
EXENT, Optilite and Freelite are trademarks of The Binding Site Group Ltd (Birmingham, UK) in certain countries.
