Wednesday, November 17, 2010

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.

Sunday, August 1, 2010

Updated PJS & JPS newsletter


Friday, April 30, 2010

Come to California


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

for details & to RSVP

Wednesday, April 28, 2010

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.

Thursday, March 18, 2010

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.

Friday, March 12, 2010

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.

Monday, March 1, 2010

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.

Friday, February 26, 2010

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
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. :)


Summer Fun 2010! Weekend of June 26, 2010


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.

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.

Friday, January 29, 2010

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
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

Friday, January 22, 2010

Síndrome de Peutz-Jeghers - PJS en Espanol

Síndrome de Peutz-Jeghers

Wednesday, January 13, 2010

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.

Tuesday, January 12, 2010

PJS Meet & Greet


My friend Casey is working on the 2010 PJS Meet & Greet to take place June 26 in Northern California. Mark your calendars and follow her blog at

How to Have a PJS Free Baby

How to Have a PJS Free Baby
Stephanie Sugars
December 2008

The question about how to have a PJS-free baby came from people with PJS living in China, but my answer will help others around the world. I've been studying for months and have many resources. I will simplify the steps in this original email and give explanations, thoughts and references in future emails.

Remember, I'm a patient not a medical professional. This isn't medical (or ethical) advice! But it is a patient-view report. My goal is to address questions of people with PJS including potential parents.

Here's a recipe for a PJS-baby, using current techniques (in vitro fertilization and preimplantation genetic diagnosis):

Saturday, January 9, 2010

NCCN PJS Screening guidelines

You'll need to get your own copy of this article to follow this post. You'll need to register at NCCN (National Comprehensive Cancer Network) or Medscape. It's free and two of 69 pages are devoted to PJS. It would be a great resource to share with your doctor or genetic counselor.

Friday, January 8, 2010

Peutz-Jeghers Syndrome News