Familial Cancer Journal is publishing a special issue on Peutz-Jeghers syndrome and the editors have graciously included an article by me. I hope those who can afford to will purchase the article - only $34.95 - from the website
For those who don't want to pay for the beautifully formatted version, please read ahead for the lovingly written, but plainly formatted version.
Title: Peutz-Jeghers syndrome: a patient’s view
Author: Stephanie Sugars
Journal title: Familial Cancer’s special issue “From gene to clinic: LKB1/ STK11, Peutz-Jeghers syndrome and cancer”
Year: Summer 2011
DOI: 10.1007/s10689-011-9453-y
Author contact information: pj4steph@aol.com
I. Abstract:
Life with Peutz-Jeghers syndrome (PJS) is complex and demanding, affecting not only the patients, but also their family members, loved ones, and clinicians. In general, clinicians and researchers have defined the syndrome. Now, in addition, people with PJS and their caregivers use the Internet for medical research and to find others with whom to share information and support. An online support group for people interested in PJS has been an important resource since 2000. This article is meant to complement the medical literature and clinician practice by sharing knowledge gained from this group and through the author’s personal experience as a PJS patient. Clinicians and researchers may benefit from a better-rounded view of the syndrome, a long list of questions and issues, and tips for future research and clinical practice.
II. Introduction:
The experience of illness is often one of isolation and uncertainty. Indeed, it was not until 2000, twenty-seven years after my diagnosis with PJS, that I found others with the syndrome. I found them only because the principal investigator of a PJS study in which I was a subject invited me to start on online group for study participants and their caregivers. The isolation of those living with PJS is compounded by the syndrome’s rarity and its medical complexity.
This is to my knowledge the first medical journal article about PJS written by someone identified as living with the diagnosis. Previous articles in medical textbooks and journals have concentrated on the syndrome itself and described medical case histories of individual patients. Because the lives of those with PJS differ from what has previously been described, new knowledge of patient experiences may have great significance for clinicians and researchers.
This article serves multiple functions. Most immediately it is a description of, and introduction to, the Peutz-Jeghers syndrome and Juvenile Polyposis Syndrome Online Support Group (PJS & JPS Online Support Group). It is important that clinicians become aware of resources developed and used by their patients. This is critical to help bridge the gap between medical knowledge of PJS and the experience of living with it.
This article also serves a second purpose, to educate clinicians, authors and researchers about the concerns of those who live with PJS as patients and caregivers. Toward that end, in Table 1, I have provided a list of questions and issues most frequently raised by those in the online support group and others who have written to me one-to-one. I also explore the types of answers questioners are likely to receive from their peers. Additionally, in Table 2, I offer possible directions for future research.
Thus, this article is not only a description of findings from a decade of PJS-related correspondence, but also a look into how community is created among those living with a complex and demanding syndrome, how patient knowledge enhances quality of life, how patients and caregivers cope with uncertainty, and how patient experiences can benefit clinicians and researchers.
III. The Peutz-Jeghers Syndrome Online Support Group:
This article focuses on what I have learned about PJS from my own experience, as manager of the Peutz-Jeghers Syndrome and Juvenile Polyposis Syndrome Online Support Group (PJS & JPS Online Support Group), through correspondence with people with PJS, and writing patient-view reports, a newsletter and news blog. [1-3]
The focus of this article is on patient-collected knowledge. Though I am well read and fluent in PJS-related medical literature (I have over 500 LKB1/STK11 and PJS journal articles in my personal library), I am not commenting on that literature, but instead describing the underreported experiences of those living with PJS. I am not an academic, a researcher or a medical professional; a more accurate title is “expert amateur”. [4]
I have chosen to use composite data to honour confidentiality and avoid problems with informed consent.
In this article I use unusual terms for those with a PJS diagnosis. When referring to the clinician-patient relationship, I use the word patient. For what happens outside that relationship, I use the term “people (or person) with PJS” or “people (or person) living with PJS”. I do not use the terms sufferer, victim, or refer to people as the syndrome. I use the term members for participants in the PJS & JPS Online Support Group.
Because this issue of Familial Cancer is focused on PJS and most members of the PJS & JPS Online Support Group are living with PJS, not juvenile polyposis syndrome, in this article I focus on PJS.
I founded the PJS & JPS Online Support Group at the request of Christopher I. Amos PhD, principal investigator of the Peutz-Jeghers genetic epidemiology studies at MD Anderson (1999- 2001). When he asked me to start an online support group for people with PJS and their supporters, I answered, “Yes!” It was an obvious next step for me. Having worked as an activist on social justice issues, I was grateful for the outlet and the chance to work on an issue that personally affects me. And study participants, especially parents of affected children, wanted to meet others to learn more about living with the syndrome.
The Internet offered a quick, direct, and inexpensive way to create a group because it avoids the front-end work of a non-profit organization, such as obtaining funding and building a membership base. In April 2000, within four months of my “yes”, the PJS & JPS Online Support Group was up and active.
The PJS & JPS Online Support Group
is free to participants and run by volunteers. Group members send and receive email that is archived at the group’s website. [1]
is free to participants and run by volunteers. Group members send and receive email that is archived at the group’s website. [1]
Members of the PJS & JPS Online Support Group include people with PJS, friends, family members, genetics professionals, clinicians, and researchers. There are usually around 300 members from around the world who live with different cultures, languages, health care systems, and access to care. Members use a common language (usually English) to describe their different experiences. About 20% are listeners or silent members who read, but do not write to the whole group. Also, one-to-one correspondence between members occurs outside the group. And I have had one-to-one correspondence with an additional 200 non-group members who live with
PJS.
Mail volume in the PJS & JPS Online Support Group can run high and there are over ten thousand emails in the archives. Websites that link to the group include Peutz-jeghers.com, Genetic Alliance, National Organization of Rare Disorders, American Self-Help Clearing House and GeneTests.
Though the group was originally intended to end isolation by providing information and support, it has evolved into a culture of people learning about and living with the two syndromes. Members share both published information and personal stories to weave new and different understandings of the syndromes. By giving voice to what is not often heard, the patient experience, and giving ear to one another, members’ lives may be changed and even saved.
In 2000 when the group began I wanted to be a silent member and expected patients and families to provide information and support for one another. It soon became clear that members needed complete, current, and relevant information to manage their medical lives, so I offer press releases, news stories, websites, and reports from medical literature about topics relevant to people with PJS.
I also publish a newsletter, The Peutz-Jeghers Syndrome & Juvenile Polyposis Syndrome Newsletter that contains information about the syndromes, treatment options, genetic testing, trials and studies, and resources for patients and their caregivers. It is periodically sent by email to over one thousand clinicians and researchers and is also shared with an additional 200 people with PJS.
My other outreach to those interested in PJS includes telephone calls, personal visits, patient view reports at Peutz-jeghers.com at http://www.peutz-jeghers.com/artrep.html , a PJS news blog at http://peutz-jeghersnews.blogspot.com/
, a talk to clinicians (2007 Collaborative Group of Americas on Inherited Colorectal Cancer), a radio interview at http://pushinglimitsradio.blogspot.com/2010_04_01_archive.html , magazine interview at http://www.curetoday.com/index.cfm/fuseaction/article.show/id/2/article_id/1441
, and the annual PJS Meet & Greet. The next PJS Meet & Greet will be in Denver, CO, USA in summer 2011. [2-7]
Other patient/family-generated Internet resources for people with PJS include Peutz-jeghers.com, two Facebook.com groups, a group for Spanish speakers, and an email list for those in China. [8- 11]
IV. Questions and issues important for people with PJS:
Because group members understand the human, bodily experience of PJS, they are able to share with others an intimate understanding of experience that is invaluable in easing suffering.
The physician Iona Heath in her 1999 lecture said, “The words our patients speak are the closest we can come to the human experience of illness. They represent only a shadow of the totality of that experience, but they express the most that we are able, through language, to share. Illness symptoms are experienced as feelings; in order to be presented to the doctor, those feelings must become words.” [12]
For many who live with PJS, the online support group is their first opportunity to tell their stories in their own words to sympathetic readers who understand their experience. Because they are among peers, rather than with professionals, they are able to ask questions that too often go unanswered by their clinicians. While group members can share their experiences, information, and support, they do not give medical advice or treatment.
Table 1 (Please see table below), Questions and issues important to people with PJS, is a composite list of common questions asked by group members and in one-to-one correspondence. It is grouped by topic so clinicians can easily locate their specialties. Patients and their caregivers need the best available information to manage their lives and to know when to seek medical care. Clinicians are the obvious resource for answers to these questions. But, judging from table 1, many people living with PJS still have unmet needs and unanswered questions.
I can imagine many good reasons for communication breakdowns between clinicians and patients and their caregivers.
A few are:
- The clinician did tell, but not in understandable language or concepts.
- The clinician gave too much information and the patient tuned out.
- The timing was not right.
- The patient was sick and tired or under sedation.
- The patient did not “like” the answer, so forgot it.
- The patient was visibly upset, so the focus shifted away from questions.
- The patient did not get a chance to tell the story or ask the questions.
- The patient brought information that the clinician did not address.
- The clinician did not have time to answer questions during a 15-minute office visit.
- The clinician was not aware of what patients know or do not know.
- The clinician has too few PJS patients to answer questions knowledgably.
- The clinician does not know or has no access to the best current medical literature.
- Patient care may be shared by many specialists, so no one person is managing care or answering questions.
- Each specialist is aware of parts, not whole, of a patient with PJS.
The clinician’s role in patient care (providing treatment, information and support) is integral to the patient’s well being. Complete, accurate, and up-to-date information is essential, but because PJS is so rare, most clinicians rely on medical textbooks and journal articles for direction.
Expert authors, researchers, and editors can address important questions and issues and report their findings in ways that support clinicians and their patients. (Table 2, Tips for researchers, authors, and editors) (Please see table below)
Another source of information for clinicians are their patients who do online research, belong to the group, and who bring them anecdotal information, abstracts, and articles. An excellent resource for exploring the importance of these “ePatients” is Empowered Patients: How they can help us heal healthcare. [4]
The human, lived experience is more complex than suggested by Table 1. This simple list of questions is not meant to be a checklist for all patients at all times, but is a summation of questions that are repeatedly asked by patients and their caregivers. Although the questions in the list may appear to lend themselves to a simple, if lengthy, fact sheet, they are often more complex than they first appear.
In my roles as manager of the PJS & JPS Online Support Group and contact person for those interested in PJS, each person’s unique understanding of PJS continues to surprise me. Most are aware of what affects them and family members personally, and as their experience changes, their need to know changes too.
In addressing questions and issues, I do my best to ease suffering by offering understanding, support and information. My answers are offered with the disclaimer that I am not a medical professional and “My best medical advice is to seek the best medical advice. If your clinician is not addressing your concerns, you may need to consult other experts.”
A question’s trajectory in the PJS Online Support Group
To understand the complexity in answering any question from Table I, consider the following composite example. It is an exploration of how a simple question might be answered in the group. A question is seldom a request for just information, but more often about the human dimension and experience. While a simple question might have a simple answer, it is also possible that it has a complex answer, an evolving answer, or no answer is likely, but the question must be coped with or “lived into the answer”.
Question: What is the age of onset for PJS gastrointestinal polyps?
Simple answer: Members respond by sharing their own age of onset of symptoms and surgery. I quote the medical literature (earliest is 15 days, average is second decade, latest reported in group is eighties – parent of two or more PJS affected offspring). Simple answers are agreed upon by medical experts, so I quote a recent medical journal article or an online resource like the NCBI Familial Cancer Syndromes’ PJS entry. Free full-text articles are appreciated by those who want to know more, though for many members a quote or an abstract is sufficient. Since these “answers” are often brought to clinicians for discussion, it is important that the literature be accessible to patients, family members and their often overly busy clinicians.
Complex answer: The questioner wants to know because a child is experiencing symptoms, but the physician says the child is too young to have polyps. Members respond with sympathy and stories of promptly and effectively treated problems, delayed diagnosis, intussusception, etc. I offer suggestions for engaging the physician in conversation and a report drawing on appropriate medical literature. Hyer’s work is helpful and also Spigelman’s quote, “a high degree of suspicion for any oddity or mass must be entertained.[(personal correspondence)] ” I will also ask about other options for care, so that the child, hopefully, does not end up in an emergency situation.
Other examples of complex answers include variation in screening guidelines between institutions and internationally, available technology, and usual and unusual presentations of PJS. For these answers, I prepare patient-view reports. In them I write using plain language to report, reflect, elaborate, and comment on the published literature, scientific research, and the experiences of people with PJS. [2, 3]
Evolving answers: The questioner wants to know about age of onset because a child is experiencing symptoms and the parent wonders whether and when to pursue medical care.
Members contribute widely varied answers based on personal experience, conversations with clinicians, and research. After supporting the parent to seek medical care for the child, I might address the difference between screening an asymptomatic child and investigating signs and symptoms of serious problems. I might write about the differences, between experts and institutions, about what age to begin gastrointestinal screening, and about what tests are suggested.
Expert authors and researchers can collaborate to address these questions by designing prospective studies with standardized data collection, describing differences between their approaches, exploring the effects of different health care systems, and sharing their clinical experience.
Other answers that need further research include the best technology for small bowel visualization and treatment; the nature of PJS polyps; cancer risk estimates; the risks and benefits of cancer screening; and risk reduction for PJS polyps and cancer.
The unanswerable: What might first appear to be simple question about age of onset (or any other question in the list) might be story that needs telling. Young children with sporadic or de novo PJS and their parents are especially vulnerable and often come with their stories of great suffering due to both the syndrome and medical treatment. The group serves them by being a safe, supportive place to share stories that might otherwise not be witnessed. Responses from members include reactions (That really hurt. How frustrating and scary for you. I experienced that too.) and concern to protect against future harm. These are the most difficult questions to answer and require both wisdom and sensitivity. My response varies based on perceived needs of the member. It may include strategies for dealing with ongoing symptoms; advocacy tips; overcoming obstacles to care; finding the “right” clinicians for now; recovery from trauma; and caring for other family members.
My response may or may not be received, acted upon, or appreciated. For many it is enough to hear, “A terrible thing has happened and you are not alone and you are not bad, wrong or crazy. The clinicians are human beings giving the best possible care they can with limited knowledge, time, and tools/technology. We will help you to live with this.”
The following quote is popular with members of the PJS & JPS Online Support Group, “…have patience with everything unresolved in your heart and to try to love the questions themselves as if they were locked rooms or books written in a very foreign language. Don't search for the answers, which could not be given to you now, because you would not be able to live them. And the point is, to live everything. Live the questions now. Perhaps then, someday far in the future, you will gradually, without even noticing it, live your way into the answer.”
Rilke, Rainer Maria. Letters To A Young Poet. Stephen Mitchell Translation. July 1903
V. Questions and answers: working together:
The questions we ask become the answers we live. By asking the important questions, it is possible to arrive someday at the important answers.
For many years my most important question has been, “What can I do to ease the suffering of those living with PJS?” I have worked hard, and I hope wisely, through the PJS & JPS Online Support Group and other avenues for positive change. Now my most important question is, “What can I share with clinicians to improve patient care?”
Unfortunately because of my ongoing communication with hundreds of people living (and dying) with PJS, I am aware that suffering does continue. Many have faced similar difficulties to those I have encountered: emergency surgery; missed diagnosis; misdiagnosis; being told the pain was imaginary; severe anaemia; intussusception, GI blockage; pre-cancers; reproductive tract tumours; lack of medical insurance; financial insecurity; cancer diagnosis and recurrence; disability; complications of surgery and scopes; and more.
And many living with PJS have faced other difficulties including: uncaring and uninformed clinicians; lack of access to health care because of geographical isolation; ignorance; illiteracy and language challenges; lack of computer access; hopelessness, depression, and despair; self medication for pain with alcohol and drugs; raising affected children; diagnosis and premature death due to PJS-related cancer in self or family members (often a parent and spouse).
Clinicians can not be expected to answer questions about an individual’s future; those unanswerable questions are usually left to psychics, priests, and poets. Researchers can not answer questions about the statistical probabilities of life with PJS, because they have too little data from too few patients over too short a time and no one patient is ever average, no matter how good the statistics are. Clinicians and researchers do learn from observing their patients’ experiences. Strong motivators for change include young children suffering emergency surgery, a high risk of gynaecological complications, a 19 year old with breast cancer, and their own patients living limited lives and dying premature, painful deaths. Recent articles about psychosocial effects, morbidity and mortality, and recommendations for management suggest the emphasis has shifted from treating the syndrome to caring for patients with the syndrome.
Patients, caregivers, clinicians, expert authors and researchers share similar goals – to ease suffering and improve quality of care. I hope this article, by illuminating patient needs, values, and experiences, serves as a further step in a long process of working together to achieve these goals.
Acknowledgements: For all those affected by PJS – the dead, living and yet-to-be-born. And to those whose care – personal, professional, and practical – enriches our lives.
References:
1. Peutz-Jeghers syndrome & Juvenile Polyposis Syndrome Online Support Group
2. Patient-view reports
http://www.peutz-jeghers.com/artrep.html
3. Peutz-Jeghers News Blog
http://peutz-jeghersnews.blogspot.com/
4. Empowered Patients: How they can help us heal healthcare
by Tom Ferguson, MD
http://e-patients.net/e-Patients_White_Paper.pdf
5. Radio Interview about the PJS Online Support Group
http://pushinglimitsradio.blogspot.com/2010_04_01_archive.html
at 11 minutes
6. Cure Magazine interview Spring 2010 - Finding Meaning and Purpose
http://www.curetoday.com/index.cfm/fuseaction/article.show/id/2/article_id/1441
7. Peutz-Jeghers Syndrome Meet & Greet
www.pjsmeetandgreet.blogspot.com/
8. Peutz-Jeghers syndrome website
www.peutz-jeghers.com/
9. Facebook PJS Groups
http://www.facebook.com/group.php?v=wall&gid=31398264512
http://www.facebook.com/group.php?gid=2519172044&v=wall
10. Sindrome de Peutz-Jeghers en Espanol
sindromedepeutzjeghers@googlegroups.com
http://groups.google.es/group/sindromedepeutzjeghers?hl=es
11. Peutz-Jeghers syndrome in China
subberry@gmail.com
12. Heath, Iona. „Uncertain clarity‟: contradiction, meaning, and hope. British Journal of General
Practice. August 1999.
Table 1 Questions and issues important to people living with PJS
Peutz-Jeghers syndrome:
Who is managing my medical care when there are so many specialists involved?
Do I (or a loved one) have PJS?
Is it all about spots and polyps? Or are there other PJS-related medical problems?
Can PJS be cured?
How can I be healthy even with a PJS diagnosis?
Is there anyone else like me, who has experienced similar problems?
What does the future hold for me? My loved one?
Why was it so difficult to get a diagnosis?
Why was it so difficult to get treatment?
What are the risk/benefit analyses of recommended medical procedures?
What is the best at-home care between medical visits?
What care is available in my region?
When should I visit a large centre/specialist in PJS?
Gastrointestinal polyps:
What is the age of onset for polyps?
How can treatment be tailored to the individual patient?
How do I know whether symptoms are due to polyps, adhesions, stomach-ache, flu, or stress?
How can I deal with GI bleeding?
What is the latest technology for imaging and scans?
What new innovations are there for scopes of the entire digestive tract?
When do I seek a second opinion for pathology reports?
What bowel preps work best for patient and clinician?
What are the options to emergency surgery?
Is treatment always the best option?
Will removal of all polyps prevent future polyps and eliminate, or reduce, GI cancer risk?
Additional PJS-related medical problems:
When do I seek medical help for problems and what must I just live with?
Have others experienced tumours or abnormalities outside the gastrointestinal and reproductive tracts– including thyroid, upper respiratory polyps and gall bladder polyps?
What about reproductive tract tumours – how do I deal with them and their effects?
For females: precocious puberty, menstrual irregularity, infertility, ovarian cysts, and cancer risk.
For males: gynecomastia and breast lumps, surgery, aromatase inhibitors and tamoxifen, surgery, and cancer risk.
Cancer:
How are the many cancer diagnoses in my family members and myself related to PJS?
Do all PJS-related cancers come from polyps?
Why am I at risk for cancer in organs without polyps?
How can cancer risk be reduced?
Can polyps and cancer risk be reduced with drugs (COX-2 inhibitors, sulindac, and MTOR inhibitors)?
What about life style changes (diet, exercise, smoking, and avoiding carcinogens)?
What about natural and alternative methods?
Should I consider prophylactic surgery to reduce breast and gynaecological cancer risk?
What are the risks of radiation from x-ray and other exams?
What is the actual cancer risk at different ages and for different organs? And why do estimates differ so dramatically?
What cancer screening is available? When does it make sense to do it?
Why do cancer-screening guidelines from PJS experts vary so widely?
How are guidelines affected by different health care systems, provider reimbursement, fear of missed diagnosis, or malpractice suits?
If cancer is inevitable, why do anything to prevent it or find it early?
Genetics:
How does research on the PJS gene, LKB1/STK11, affect people with PJS?
How common is PJS?
Is it more common in any racial or ethnic group?
Do different mutations lead to different experiences (genotype-phenotype correlations)?
How does familial inheritance work?
Can PJS skip generations?
What are sporadic or de novo mutations?
How do I get genetic testing? How much does it cost? And how long does it take to get results?
How accurate is genetic testing?
Is it possible to have the syndrome and test negative for the PJS gene?
If the first genetic test was negative, should I try the MLPA test?
How does mosaicism change testing and results?
What are the reasons for and against genetic testing for an affected child or myself?
At what age should a child be tested?
Should other family members be tested? Which ones?
What about genetic discrimination?
Childbearing and child rearing:
Why would (or would not), I want to risk having a child with PJS?
What reproductive technologies are available? What about IVF with PGD?
Why do different family members with the same PJS mutation have such different experiences?
What are the different needs of those with familial and sporadic or de novo mutations?
How will I know whether my child has PJS too?
How do I talk with children about PJS?
How do I prepare children for tests and treatments?
How do I help children overcome trauma from earlier medical events?
How do I prepare young adult offspring to manage their own medical care?
How can I encourage family members to care for themselves?
Psychosocial aspects:
How can I deal with the stress of recurring or ongoing illness and medical interventions?
How can I deal with chronic pain?
How can I talk about this with future partners, family members who might be affected, and
others?
How can I live with a disorder that nearly killed me?
How can I live with a disorder that has killed family members?
Are depression and anxiety linked to PJS?
Obstacles to medical care:
How do I pay for care in a country without universal health care?
How can I support my family and myself when I need time off work for illness, treatment and recovery?
What treatment is available in my area? Will I need to travel for treatment?
What can I do when my clinicians give up on me, telling me there is nothing more they can do?
How do I know when the risks of treatment and procedures are greater than the benefits?
How do I overcome my own inertia and internal resistance to treatment for PJS?
How do I recover from past medical trauma?
Dealing with physicians – advocacy:
How can I participate in my own care?
How can I become involved in, but not responsible for, medical decision-making?
How can I help my local clinician get updated about PJS without offending him or her?
How can I share what I have learned in the group or on the Internet?
What do I do if I am told to come back only if symptomatic?
What do I do if the doctor believes my child is too young to be experiencing problems due to polyps?
Why do experts disagree with one another? This makes it very difficult to help my physician learn more about PJS.
Dealing with physicians – complications:
How do I deal with PJS as a medical condition?
What are the risks and benefits of treatments and what alternatives are available?
Can I refuse medical care?
How do I appeal a medical insurance denial?
How can I cope with complications and iatrogenic medical problems including: adhesions; hospital borne infections; latex allergies (DBE uses latex); short bowel syndrome; bleeding out;
ileus; anaesthesia allergies or sensitivity; perforation during scopes; radiation from x-ray exams
(Who is tracking to prevent overuse?); nutritional difficulties due to polyps or surgery; multiple diagnoses; being offered barium x-rays; and in the USA being uninsured or underinsured?
Table 2 Tips for researchers, authors, and editors
Bridging the gap between publication and practice
* You have the ability to change the futures of patients, family members, and clinicians. Please consider this when designing studies, seeking funding, and writing articles for journals and textbooks.
* Large clinical research studies, randomized trials, and reliable statistics of the PJS population are not practical or achievable due to small numbers of affected people. It is possible, however, to design relevant research. Some suggestions follow.
* Work prospectively across institutional and international boundaries to standardize data collection methods for more accurate results.
* If your study involves patients, please follow them. Participants often move, develop more medical problems, and die, so are lost to follow-up. This affects data and lives.
* Rather than writing about the syndrome, write about people living with the syndrome. This simple language change will impress your reading audience.
* Use understandable language to clearly explain concepts to clinicians and, if possible, the layperson. Also, standardize tables, charts, and graphs for readability.
* To clear up confusion, explain statistics, cancer risk estimates, and reasoning for screening guidelines.
* Acknowledge differences. European and American guidelines differ dramatically because of different medical care systems.
* Case reports can offer valuable insights into the new and different ways people live with PJS.
The stories and illustrations in case reports may not be statistically important, but can offer valuable information on life with PJS.
* If patients suffer complications, errors, or harm, describe their experiences so others can learn from mistakes and successes.
* When writing about a new procedure, technology, or guideline, be sure to analyze risks and benefits, comparing them to older, established care. Mention whether and where it is available.
Cost and medical insurance coverage are important, especially in the US.
* Researchers of the PJS gene, LKB1/STK11, can include possible clinical applications of their research. Translational medicine is a yet- to-be-fulfilled promise.
* If research and study results are not shared, they are useless to clinicians and patients. Publication in a medical journal is just the first step in sharing important information.
* If possible, publish with open access journals. Most readers can not afford subscriptions or even the cost of individual articles and rely on free PubMed abstracts to keep informed. A well written abstract conveys important information to clinicians and patients, even if you can not afford to publish free full-text articles.
* Issue a press release about your work and publications and share it with eurekalert.org.
Because press releases are often circulated by news media without any editing, verification, or additional comments, please consider Health News Reviews’ ten criteria for medical journalism.
http://www.healthnewsreview.org/review-criteria.php
* Share results with health websites that have PJS entries, especially if your work affects clinicians and patients. The Internet is useful, but information at health websites is often inaccurate, incomplete, or outdated.
* There is a gap between knowing and doing. What you offer may or may not be received and acted upon by patients, caregivers, and clinicians. Please be patient. People are complicated.
* Thank you for all your good work on behalf of all who suffer, whether from PJS or other causes.
Thank you! Beautifully written and applies to those of us with loved ones who have different genetic syndromes
ReplyDelete