LYNCH SYNDROME IS A FAMILY MATTER
Though hereditary cancers have existed throughout the ages, they weren't actively researched by modern medicine until the last fifty years. Physicians wrote about family cancer clusters during the 1800s, however it wasn't until the late 1950s and early 1960s that statistics were used in hereditary cancer research to establish the actual existence of hereditary cancers.
In the early 1960s, Dr. Henry T. Lynch was a resident at the University College of Medicine in Omaha, Nebraska. Following pursuit of a PhD in genetics, which was abandoned in pursuit of aspirations to become a physician and work with genetics in the field of "clinical applications," he had graduated from medical school and was working as a clinical physician within a setting that allowed research opportunities.
His interest in genetic cancers began shortly after arrival. He was asked to consult on a patient of Charles Magnuson, a gastroenterologist who practiced at the Omaha Veteran's Administration Hospital. That particular individual possessed an extensive family history of cancer and was thought to have FAP, a hereditary colon cancer that produces thousands of polyps.
Lynch immediately realized an extensive family history of colon cancer did exist, however noted the cancers were not consistent with FAP as there were not the usual numerous polyps, characteristic with the syndrome. He suspected another hereditary cancer may exist.
Lynch presented his findings to the American Society of Human Genetics in 1964. In 1966, he and members of a team he established found two different families with the same type of cancer. They published a paper on this phenomenon which was referred to as CFS or the Cancer Family Syndrome, now known as Lynch syndrome (hereditary non-polyposis colon cancer - HNPCC).
Fortunately, for Lynch, he had experience with the theory of hereditary cancers. His former mentor in Austin, Texas, Clarence Oliver, was one of the first to begin to work on establishing the theories of hereditary human cancers. Prior to that time only animals were studied. Therefore, when Lynch became acquainted with his first initial occurrence with familial cancers, he knew how to study it in detail.
Lynch doggedly researched the phenomenon. At night and on weekends he would drive into rural areas and speak with families known to have a "family cancer." Maintaining clear, concise notes and data, he continued his research but not without opposition.
Despite evidence he had discovered and meticulously documented, critics suggested his research was not accurate and he had not taken into consideration the environment or viruses as a cause for the clusters. A government study team expressed strong doubt as to his findings. Some peers labeled his work as "problematic," and while presenting his findings in Europe he was confronted and told the syndrome he founded was simply FAP with different characteristics.
Lynch began to realize and see a considerable amount of the "nay saying" was a result of discrimination against the "farm state research teams" by the noted New England research facilities. He began to focus his research more in Nebraska and the Midwest and to gain his support there.
As doubts continued, Dr. Lynch exercised the "old American pioneer spirit" and only worked harder to prove this theory, taking into consideration the interplay between environment, social factors and disease. Nebraska physicians supported him and lead him toward more families which possessed the syndrome. He continued to work day and night to identify and study these families.
A number of researchers may have stopped at simply identifying the syndrome. However, for Dr. Lynch, it simply wasn't enough. He and his entire family dedicated themselves toward those with Lynch syndrome and they sacrificed greatly to protect and save the lives of us and our families.
Dr. Lynch had an insatiable desire to learn how to control the syndrome and treat the cancers. He endeavored to explore it further in order to help those with Lynch syndrome and the immense feeling of hopelessness. Not only did he delve into the genetics of Lynch syndrome but through his constant personal interraction with thousands of families, Dr. Lynch became family with the psychological difficulties individuals with Lynch syndrome sustain and noted individuals needed hope in order to acknowledge the syndrome. If there was no treatment and simply a difficult death, then individuals chose denial as an option.
Arguments changed from whether or not Lynch syndrome existed to whether or not it was beneficial to the patient to know about the existence of the mutated gene and the predisposition to various cancers. Researchers changed their tone, admitting the syndrome did appear actual, however they weren't certain the research was beneficial as they feared the patient would become fatalistic instead of seeking early treatment. From their perspective, it was often better to deny hereditary cancer existed or for the person to know, a situation we often see occurring with physicians even today, despite the existence of surveillance guidelines and advanced technology which can protect families and save lives.
Dr. Lynch envisioned a statewide network to care for our families, which included testing, a registry, treatment centers and ongoing surveillance for early prevention. The care focused on the family physician being the first line of defense for individuals with this syndrome. The physician needed to be both physician and teacher to the patient and act as the central figure to the patient--making referrals to specialists, making certain the proper cancer screening tests occurred and removing or treating the early detected cancers before they became life threatening.
In 1969, on the East Coast, a young medical student named Clement Richard Boland advised his instructors there was a strong family history of cancer within his own family which he believed to be genetic. He, too, was told it was impossible to have a hereditary disease of cancer without multiple polyps. He, like Dr. Lynch, set out to discover the truth, finding another family just like his.
In 1972, Boland and Lynch finally met. Both continued research on Lynch syndrome and finally, it was accepted by the medical community, after family, after family had been found. Since, Dr. Lynch's son, Patrick, has joined the research efforts, as well as many other dedicated individuals, including Dr. Stephen Gruber from Michigan State, Dr. Randall Burt from Huntsman Institute, Dr. Bill Grady and Dr. Stephen Potter from Fred Hutchinson in Seattle, Dr. J. Terdiman at UCSF, Heather Hampel and Dr. Albert De La Chapelle at Ohio State, Dr. Karen Lu and Dr. Rodrigas Bigas at MD Anderson in Houston, Dr. Hans Vasen in the Netherlands, Dr. Syngal of Dana Farber and many, many more. Before their dogged efforts to prove this hereditary condition existed, entire families were wiped out. Their research has provided the technology so we can live.
However, many of our families are still being wiped out and individuals are dying as a result of delayed diagnoses. Today, it is projected over 600,000 individuals have the defective gene, however ess than five percent of them have been diagnosed. This is believed to be due to many factors:
Many American medical schools did not teach medical students about Lynch syndrome until well after 1985. It was documented in journals and studies, but the information did not get to the physicians. It is highly likely that most physicians that completed medical school before 1995-2006 know little about Lynch syndrome.
Many of today's doctors are imported from other countries where they attended foreign medical schools that didn't include Lynch syndrome within its curriculum.
Very few physicians are taking family histories and even when they do, the family history is not documented in a detailed manner within the patient's file so other referred physicians are not aware of it. This subsequently eliminates checks and balance quality assurance. The reasons for not following this very basic standard of care are many, including time, lack of payment from insurance companies, fear of future litigation, etc.
Many physicians only have fifteen minutes to consult with a patient and the taking and documentation of a good family history consumes almost all that time. There is a shortage of GPs in today's medical community and only half as many physicians are becoming GPs today as they were ten years ago. To further complicate matters, physicians used to work sixty hours a week and in the past several years have reduced their work schedules. As a result, an equivalent of 36,000 physicians have been eliminated from the market, increasing the need for general practitioners, dramatically.
Many records are now electronically generated and even software purchased several years ago is already antiquated as it does not facilitate a function for taking family histories.
Insurance companies don't compensate physicians for the time required in thoroughly taking a family history.
Patients don't know their family history to give their doctors.
Few physicians have the tools or the knowledge of how to access of specific genetic testing or how to choose the "right test" for the right patient. Many don't know how to treat an individual who is at high risk for hereditary cancers.
A failure to diagnose Lynch syndrome may be the result of "availability heuristic" situations in which physicians only identify with that which they have actually had some sort of experience and without that experience other ailments and syndromes are not considered for diagnosis.
There is often dismissal of symptoms of colon and other "below the belt cancers" in individuals of a younger than usual age (under forty) due to lack of information about Lynch syndrome and the false belief colon cancer is a "old person's" cancer.
Many physicians don't recognize early endometrial and ovarian cancers as possible hereditary cancers.
Many physicians don't realize there are cancers like Lynch syndrome which metastasize in 1-3 years, mistakenly thinking ALL cancers take over five years to develop.
Some physicians experience denial and projection of one's own feelings of fear of cancer such as telling a patient, "Do you really want to know if you are going to get cancer?" "Do you really want to know if you may die?"
Patients often experience fear and subsequent denial of risk, choosing not to inform the physician of the family history or declining genetic testing.
In late 2007, I was diagnosed with colon cancer, following many years of concern and fear the "family cancer" was hereditary. Until this last generation, family members died in middle age of Lynch cancers. In fact, through my own generation, every single person from three generations prior either sustained a cancer or died young from assumed Lynch syndrome, except for one. My own cancer was a late diagnosis as a result of skepticism and marginal medical care received from my physician. The result was a Stage III (c) metastases into the lymph nodes.
Until my diagnosis, there were no less than thirteen doctors and many opportunities for someone to take a detailed family history from members of my family and to refer individuals for genetic testing. It never occurred prior to the time I was diagnosed and as a result, one individual of our family died. The thirteen included general practitioners, urologists, gynecologists, gastroenterologists and oncologists.
During the course of care leading to the diagnosis and the treatment, I encountered many physicians and medical health care professionals who knew nothing of Lynch syndrome. I met many families who also had a "cancer thing going on" in their family and knew nothing of it. It was apparent, there was a disconnect with the information the researchers were putting out and the information medical treatment providers were taking in. As well, it was apparent physicians were not making the taking of a family history a priority---or---the institution with which they were involved did not wish them to make the taking of a family history a priority, for whatever reason.
I am very grateful for the diagnosis of Lynch syndrome. Had I not been diagnosed, most likely my daughter would never have been diagnosed as to this date and the cancers would have continued with their neverending cycle.
It can't be argued life was lost as a result of lack of taking a family history, lack of diagnosis, lack of surveillance and lack of treatment. Had my father had those opportunities, he may be alive today and had we known a diagnosis earlier, we could have been protected from metastasized cancers. Today, many lives are being lost in that manner and families are not protected.
Fortunately, in my situation, following diagnosis, I was blessed with the dream team which saved my life and cared for me during the 27 day hospitalization of treatment, the two months of recovery from serious anemia, the six months of chemotherapy, the recovery from prophylactic surgery and since. My physicians are as valuable and cherished by us as members of our family and we are eternally grateful to them. Thanks to them, I am alive today...and my family is protected. Our physicians keep us alive.
My story is no different than thousands of others, both with us and gone. It is heard repeatedly throughout the world and in most instances, when individuals are diagnosed with Lynch cancers, it is the result of a delayed diagnosis. It doesn't have to be that way...we have this wonderful, affordable technology that offers hope and can keep us alive and physicians aren't using it...allowing individuals to get cancers and to die. A misdiagnosis of someone with Lynch syndrome is a misdiagnosis of an entire family and entire families are getting "wiped out" with these cancers.
There is no need for any person who has health insurance and/or availability to health care, who knows their family history and who has Lynch syndrome, to be diagnosed with advanced stages of colon cancer, especially with genetic testing available and the existence of surveillance measures which can remove tumors before they become cancerous. In fact, a recent study has determined it is less costly to provide across the board testing and annual screenings, than it is to treat us when we have advanced cancers.
Changes needed to be made. Awareness and education of both the public and the medical profession is a necessity if we are going to protect families and save lives. There is a lot to be done and a considerable amount of need to effectively care for and treat individuals with Lynch syndrome. As soon as I recovered in mid 2009, Steve and I went to work on this matter.
In July of 2009, Lynch Syndrome International was formed through the dreams of members of our family, including my brother, Jim Snelling and his lovely wife, Rhonda and Selena Martinez, a passionate, devoted young woman whose family has been dramatically impacted by Lynch syndrome.
With the assistance of Sandi Pniauskas, of Toronto, Canada, we were able to connect with those who have spent their lifetimes protecting families and saving lives from Lynch cancers and develop an organizational schematic. With the help of survivor, Kate Murphy, existing cancer organizations became aware of the organization.
Today, we are fully operational with dozens of volunteers internationally, working together toward our common goals and we are working toward our mission. It has been an exciting sixteen months.
Lynch Syndrome International addresses the gap of information which has existed between practitioners and those conducting research, as well as provides assistance to those with Lynch syndrome. Prior to the formation of this organization, no such organization has ever existed.
Our future goals? We intend to personally contact every single general practitioner, gynecologist, urologist, internist,dermatologist, optometrist, pathologist, optometry specialist and gastroenterologist, in the United States, with information in respect to Lynch syndrome. Our goal to get this completed in three years and to have it completed internationally within the next twenty years. We intend to have representation at every Relay for Life in the United States and every conference and event which addresses Lynch cancers within the next ten years. We intend to have four major public awareness campaigns per year. We began this in March of 2010. In 2011, we intend to make those public awareness campaigns through print, radio and television stations. By 2012, we will have regular PSAs about Lynch syndrome on the air and by that date, we hope to have education in respect to Lynch syndrome and genetic disorders in every single classroom. The first three goals are currently being considered for sponsorship by major corporations. The others...we're working on them.
With the inspiration of the dogged perseverance of Dr. Lynch, Dr. Boland and the dozens of dedicated researchers and treatment professionals who have followed and contributed so very much so we can live (to include our own physicians), together, we will protect tens of thousands of families and save tens of thousands of lives.
We hope you will join us in this endeavor to protect families and save lives --
In the meantime, please, live well and stay well!
Steve and Linda Bruzzone
The Home Of Lynch Syndrome Research and Care
The Hereditary Cancer Center at Creighton University, founded in 1984 by Henry Lynch, M.D., is one of the oldest and most comprehensive research-based centers in the world devoted to the prevention and early detection of hereditary forms of cancer.
While he frequently travels the United States and abroad to lecture and consult, Dr. Lynch and his team of cancer experts continue to see patients regularly at Creighton University’s Hereditary Cancer Prevention Center in Omaha.
Cancer Research and Patient Care Management
Global collaborations with researchers and clinicians in the United States, Canada, South America, Europe and Asia have allowed the center to remain at the forefront of hereditary cancer research and patient care management, particularly in the following areas, each of which Dr. Lynch described first:
• hereditary breast ovarian cancer syndrome
• familial atypical multiple mole melanoma (FAMMM) syndrome in association with pancreatic cancer
• hereditary nonpolyposis colorectal cancer (HNPCC) syndrome, also referred to as Lynch syndrome
For More Information or to Make an Appointment
Contact: Henry Lynch, M.D.
Hixson-Lied Science Building, Room 202