Tuesday, May 15, 2012

My other family - Peutz-Jeghers people

Photo of me as young adult
Check out those freckled lips, I have classic Peutz-Jeghers syndrome.


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

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

As a child, I loved stories of lost children finding their true families. I wasn’t an orphan, am the oldest of six siblings in a large, extended family. But I felt different. It wasn’t just being the only blond. I seemed to have a different experience of the world.

I didn’t know then that the freckles on my lips and the scar on my belly were signs of a rare genetic disorder, Peutz-Jeghers syndrome (PJS). Or that recurring abdominal pain and years of anemia were symptoms of its ongoing activity.

In 1972 at age sixteen, after another harrowing gastrointestinal (GI) surgery that removed large polyps, I was finally diagnosed with PJS. The hallmarks of PJS are GI tract polyposis, spots on lips, benign reproductive tract tumors and increased risk of cancer. My younger siblings were subjected to GI testing and the doctors decided I had sporadic or de novo PJS.

People with PJS have a 50-50 chance of passing on the syndrome to offspring and at age 19 I had both a tubal ligation and more GI polyps removed.

I was alone in the world with my syndrome. It’s a rare condition; the frequency is estimated as ranging from one in 30,000 people to one in 300,000 people.

Even the gastroenterologists in San Francisco didn’t have other PJS patients.

So, being a bookworm (a side effect of prolonged anemia), I began hanging out in medical libraries reading about the syndrome. I’d pore over the photos of the lips and fingers of other patients, read their case histories, consider the authors’ pronouncements on life and death with PJS.

There was some life, but a lot of death too.

The risk of cancer in PJS is about 93% from age 15-64 and approximately 50% of patients with PJS develop and die from cancer by 57 years of age. If that’s not bad enough, the cancer risk is spread about the body and affects the entire GI tract, but also reproductive tract, breast, pancreas, lungs, thyroid, and other organs. Aside, there’s a good reason why I was diagnosed with bi-lateral breast cancer at age 34 and it wasn’t my natural, alternative healing lifestyle.

Anyway, back to my investigations. My research connected me with researchers and in early 2000 I participated in a PJS study though MD Anderson Cancer Center. The principal investigator asked me to start an online support group for people with PJS, so I did.

That group is 12 years old and currently has about 300 members. We’ve had another 250-300 members pass through the group and I have email contact with about 100+ folks who didn’t join the group.

This is my other family.

Most of us have never met in person, because we’re scattered around the world. Yet our group members have a shared experience and genetic similarity that forms instant and lasting bonds between us. And, after 12 (now 16 in 2012!) years online together, we’ve witnessed members raising children; growing to adulthood; becoming parents; getting better medical treatment; dealing with chronic and life-threatening situations; finding a healthy balance; and dying.

Even though I’ve found my other PJS family, I still spend lots of time in medical libraries and doing medical research online. The research bug bit me! My patient-view reports on scientific and medical literature try to make it accessible to the average reader. And I’ve had the opportunity to address medical professionals and researchers through writing and speaking about life with the syndrome.

While we still have a long way to go to relieve PJS-related suffering, it’s heartening to see how far we’ve come in just 12 (now 16 in 2012!)  short years of patient-driven activism.

1 comment:

  1. I am a 35 year survivor of Pancreatic Cancer and a Whipple I also have pjs and have had 8 operations Im 61 and counting. I need help finishing my book. My name is Dan Cohan 559-392-7849 Danielgmc1@hot mail.com