PJS Meet & Greet in Pennsylvania, USA

OUTDATED! FOR ARCHIVE ONLY! Fourth PJS Meet and Greet  July 28 and 29, 2012 Pennsylvania, USA

My other family - Peutz-Jeghers people

Photo of me as young adult

Check out those freckled lips, I have classic Peutz-Jeghers syndrome.

xoxoxox

Dear guests,

Thank you for visiting the Peutz-Jeghers News Blog.

If you've come seeking information, you'll find some here.

Unfortunately, due to my advancing breast cancer, I can't keep this blog updated now.

If you've come seeking support, please don't write to me one-to-one.

For information and support please do join the Peutz-Jeghers Syndrome & Juvenile Polyposis syndrome Online Support Group. It's free and run by volunteers. There are currently over 300 members from around the world

https://www.smartpatients.com/communities/peutz-jeghers-syndrome

I wrote the following story about my PJS adventures and how the online support group has changed my life for the better.

If you want to learn more about PJS or JPS and meet others, I hope you'll join that group and benefit too.

warmest, healing regards,

Stephanie Sugars

Role of PJS gene in breast cancer spread

Last month I got very excited by the following news (two press releases and link to free full text article) about the PJS/LKB1 and breast cancer connection. My excitement multiplied when I realized that the research came from near-to-me UCSF, a place I’ve been treated for metastatic breast cancer for over a decade. I was able to speak with Zena Werb and found that the study has moved to Finland where there are lots of PJS patients. And that they don’t need pathology or cytology donations from anyone local.

Darn! My book club just finished Rebecca Skloot’s Immortal Life of Henrietta Lacks and I was ready to sign up as an informed and willing lab rat. Or at least sign a tissue release form.

Btw, my cancer has progressed dramatically recently and I may need to abandon this semi-neglected blog.

TIA for your healing thoughts and well wishes.

Keep on learning, keep on sharing,

Love,

Stephanie Sugars

For those who want to learn much, much more about PJS

The British Medical Journal has an incredibly detailed Peutz-Jeghers syndrome entry. To access it, you'll need to scroll down the page and sign up for the free 30-day trial. Peutz-Jeghers syndrome Highlights - Best Practice - BMJ bestpractice.bmj.com/best-practice/monograph/1128.html

PJS - gastrointestinal cancer prevention from surveillance?

The following abstract from St. Mark's in London shares some intriguing suggestions. Can imaging, scopes, and surgery to find and remove polyps reduce our cancer risk? And, is our cancer risk from the polyps? Or are polyps a symptom of an underlying problem (ie. our gene defect)?  For those curious to learn more, I've included links to related articles in my commentary.

Peutz-Jeghers Syndrome Meet and Greet DVD Available for Purchase

Peutz-Jeghers Syndrome Meet and Greet DVD Available for Purchase

$10 individual or family member

$20 professional or institution

Ordering instructions below

The Third Annual Peutz-Jeghers Syndrome (PJS) Meet and Greet was held at The Children’s Hospital in Denver, Colorado in July 2011.


A few of the many topics covered by presenters include risk reduction, genetic counseling, children, screening guidelines, and the action of the PJS gene.

The two-hour DVD of the panel discussion includes:

Two studies of the mTOR inhibitor everolimus in Peutz-Jeghers syndrome

Two studies of the mTOR inhibitor everolimus in Peutz-Jeghers syndrome

A patient-view report by Stephanie Sugars

My 2009 report on mTOR inhibitors in PJS

Drug directions in PJS – RAD001 (aka everolimus and Afinitor), an mTOR inhibitor
A patient-view report by Stephanie Sugars 
January 17, 2009  

Part one of three: These are the thoughts of a PJS patient, not a medical professional. I'm thinking like a patient advocate and wondering what we might want to consider about using these drugs and participating in clinical trials for them. 

I don't mean to discourage anyone who'd like to participate in a clinical trial, it's a sacrifice that some will have to make to determine whether new drugs are both safe and effective for other patients. 

I do want us to consider possible risks and benefits and not get carried away in the excitement of a new era of chemoprevention in PJS.  

I've been following mTOR, rapamycin and RAD001 (everolimus) in PJS and our gene, LKB1 for many years. I heard about the Salt Lake City trial (http://www.clinicaltrials.gov/ct2/show/NCT00811590) in October 2007 at the Collaborative Group of Americas on Inherited Colorectal Cancer conference.

Follow-up on children with PJS

If a child has been diagnosed with PJS by some combination of family history, spots and genetic testing, but doesn't have polyps, what screening tests and follow-up surveillance tests are recommended by PJS experts?

There are several different expert opinions on this, but all suggest that annual full gastrointestinal workups (including scopes and imaging) are unnecessary. The  range is from repeat the tests at 2-3 year intervals to wait until age 18 to test again.

My article in Familial Cancer's Summer 2011 PJS issue

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

http://www.springerlink.com/openurl.asp?genre=article&id=doi:10.1007/s10689-011-9453-y

For those who don't want to pay for the beautifully formatted version, please read ahead for the lovingly written, but plainly formatted version.

PJS Support Group 2011 Meet and Greet

OUTDATED!

FOR ARCHIVE ONLY!

PJS Support Group 2011 Meet and Greet

When: Friday, July 15, 2011 Time: 12:00-6:00 PM

Where: The Children's Hospital Aurora, Colorado, USA

Rooms: Rooms for panel discussion and for children to play.

Outline of events:
12:00 Lunch
1:00-4:00 PM Panel Discussion with Q and A

Presenters:  

Steven H. Erdman, MD http://www.nationwidechildrens.org/gd/applications/controller.cfm?page=237&pname=pprofile&pid=8017&Gsection=PFV  

Edward (Ed) J Hoffenberg, M.D. http://www.thechildrenshospital.org/about/doctor/detail.aspx?doctorID=853&sid=311426

Douglas L. Riegert-Johnson, M.D. http://www.mayoclinic.org/bio/13307703.html  

Possible Presenter:

Dr. Dennis Ahnen PJS adult specialist at University Colorado http://www.ucdenver.edu/academics/colleges/medicalschool/departments/medicine/Gastroenterology/Faculty/Pages/Faculty/DennisJAhnen,MD.aspx

4:00-6:00 PM Rooms open for continued socializing.

For more information contact Heidi at neverseenthat10@YAHOO.COM

Respect for Radiation: X-rays and Cancer Risk in PJS

This patient-view report is on x-rays and radiation and Peutz-Jeghers syndrome. In our discussions of tests, we seldom mention, and never discuss, medical radiation and x-rays in PJS. There's hope for the future. The PillCam  or Video Capsule Endoscopy doesn’t involve radiation. Magnetic Resonance exams for the small bowel and breast are alternatives to small bowel series and mammography. Hopefully, new techniques and equipment for detection of polyps, tumors and cancers will be evolved before any of us totals 100 x-ray exams. Hopefully, new treatment methods will cure cancers without the side effects and after-effects of current treatments. And most hopefully, cancer prevention will be a priority not just for those of us with mutations, but for all of us sharing this planet.

Updated PJS & JPS newsletter

OUTDATED!

FOR ARCHIVE ONLY!

Come to California

OUTDATED!

FOR ARCHIVE ONLY!

PJS people gathering at 2PM on Saturday, June 26, 2010
in Santa Rosa, California

for details & to RSVP
http://pjsmeetandgreet.blogspot.com/

PJS on the air and in the archives

Pushing Limits Radio

Adrienne Lauby talks to Stephanie Sugars
about a community of people living with a rare genetic
disease, Peutz-Jeghers Syndrome.  The e-group
Stephanie facilitates celebrates its ten year
anniversary this month.

In the news: PJS & me too

The Spring 2010 issue of Cure magazine contains an article on finding meaning and purpose in a cancer diagnosis. I'm mentioned as is the PJS Online Support Group.

http://www.curetoday.com/index.cfm/fuseaction/article.show/id/2/article_id/1441

Mosaicism – What is it? Who’s affected? Why does it matter?

This is a long, complex report. Please ask questions and for clarification!

This is a patient-view report. Please remember, I’m a Peutz-Jeghers syndrome patient not a medical professional and am not giving medical advice. My advice is to get good medical advice, hopefully from a genetics professional. This report contains speculations on the importance of mosaicism in PJS, based on its importance in FAP (familial adenomatous polyposis). Because PJS mosaicism hasn’t been described in the medical literature, even a genetic counselor may not be familiar with the topic. You are welcome to share this report with your health care provider, just make sure to say it’s a literature based report, not medical prescribing.

Let’s consider genetic mosaicism in PJS. Though it hasn’t been described in the PJS literature, in the summer 0f 2009 two people have reported mosaicism in self or PJS family member. Mosaicism is a genetic mutation that affects only some cells or portions of a person’s body…so instead of having the PJS gene (LKB1/STK11) mutated in every cell of the body, including the blood, only portions of the body are affected.

Is the PillCam outdated?

(Includes new vocabulary and concepts)

Is the PillCam outdated?

Not yet. Not for everyone. Not every where.

But increasingly so.

So sad.

Does race have anything to do with PJS?

PJS seems to affect people of all races and in all regions of the world.

For many years, I've been wondered whether PJS disproportionately affects people of any race. For answers, I first studied the medical literature (websites, journal articles and text books), then personal stories of PJS people around the world. Many years
ago a young African-American woman with PJS and I exchanged emails. She'd
had a rough time with PJS and I've since remembered her statement, "Life is
hard enough already and this isn't making it any easier." This further
sensitized me to how race affects medical care and access to care and even the
case reports written by doctors.

Breast and Gynecological Cancers in PJS Women

Scary stuff
Read at own risk

These are a few articles on the topic published between 2000 and 2010.
To read complete abstracts, go to http://www.ncbi.nlm.nih.gov/sites/entrez
and enter PMID # into search box.

The PJS Gene & Endometrial Cancer in Mice

This isn't about PJS people, but genetically engineered mice!

Yet it's interesting because we know that we're at increased risk of
reproductive tract tumors and the authors explore some possibilities about why &
how. Also, they used rapalogs (like RAD001 and Rapamycin that we've discussed
here) to reduce endometrial cancer progression and shrink tumors in the
affected mice.

It's interesting to consider. Perhaps someday research and trials will help
us PJS folks, not just the PJS mice. :)

Love,
Stephanie
***********

Summer Fun 2010! Weekend of June 26, 2010

OUTDATED!

FOR ARCHIVE ONLY!

Mark your calendars!

Scientists investigating the PJS gene, LKB1, might want to head to Marseille, France for a conference titled "The Tumor Suppressor LKB1" From Basic Science to Clinical Applications". June 24, 25 & 26, 2010. http://lkb1.com

On the same weekend, people whose lives are affected by PJS can enjoy the company of others at the second PJS Meet and Greet. We will gather on June 26 in Santa Rosa, California in the San Francisco Bay Area. Meet and Greet blog.

My earlier patient-view reports

My earlier patient-view reports

Since 2000 I’ve been writing about Peutz-Jeghers syndrome for the PJS Online Support Group. My reports have included updates on medical journal articles, resources and explorations of topics of interest to people with PJS, their loved ones and health care providers.

Several of these reports are available at http://peutz-jeghers.com/artrep.html

Peutz-jeghers.com is a wonderful resource created by Karen Oyler. It is of, for, by and about Peutz-Jeghers people & our gene (LKB1/STK11).

Unfortunately the information explosion has made it impossible to keep that website up-to-date.

This blog will hopefully serve as a news source for folks interested in PJS and the PJS gene (LKB1/STK11).

Rather than republish my earlier reports here, I will direct you to http://peutz-jeghers.com/artrep.html

Síndrome de Peutz-Jeghers - PJS en Espanol

Síndrome de Peutz-Jeghers

Adhesions - internal scar tissue

This report is from October 2001. - Stephanie

*********
Well, this report from a patient view is a little more grisly than usual. I'll apologize in advance and warn away the squeamish.

I assume that readers are familiar with small bowel obstruction due to polyps. List members have given many reports of polyps causing blockage and/or intussusception. But, in the general population, surgical adhesions are a far more common cause of small bowel obstruction. Because many list members have had abdominal surgery (laparotomy and laparoscopy), we are at risk for obstruction from both polyps and surgical adhesions.