Hearing a doctor place a diagnosis on your child can be stressful and overwhelming. This is more difficult when the diagnosis is a rare disorder or disease. Where do I go for more information? What do all these terms mean? How do I explain this to my child? Is any research being done on this?
All these questions and more are likely clamoring for attention. This page is an attempt to give you a place to start so you can begin to figure it all out. You may not find all the answers here. But hopefully you'll find some things of use. Use the "Email Webmaster" link at the bottom of this page if you need more answers, information, or a sounding board. We'll do our best to help in any way we can.
What is Peutz-Jeghers Syndrome? And in terms I can understand!
Peutz-Jeghers Syndrome, or PJS for short, was first described and identified by two doctors named Peutz and Jeghers. A syndrome is a group of symptoms that together identify a certain disease or abnormal condition. The group of symptoms that identify PJS include a certain type of freckled, a specific kind of polyp, and (if possible) a certain marker on a gene.
The freckles range in color from brown to blue or black. They are harmless, just like normal freckles caused by the sun. Freckles will mostly be on the lips, in the mouth, or on fingertips, toes, eyelids and nose. For many people with PJS, these freckles will fade by the time they are adults. A dermatologist who is a skin specialist in laser therapy can remove the freckles without hurting the skin.
The polyps are called hamartomas. PJS polyps are growths inside the intestines and stomach. They can be very small or large. Often they will be attached to a stalk. The surface of the polyp is smooth. When they are put under a microscope, you would be able to see smooth muscle in the center of the polyp. This is the same kind of muscle that is found in the walls of the intestines, stomach, bladder, and blood vessels. Hamartomas are benign, or not cancerous. But because they can cause other serious problems, they need to be removed.
Researchers have found the gene responsible for PJS. Current tests are able to catch about half of those with the mutation. New testing methods are being developed that promise to find more. You can talk to your doctor if you want to pursue testing for the gene. There is more information in the Genetics and Genetics 101 pages in this website.
There are so many new terms! What do they mean?
There are a lot of terms that you will hear as you begin this journey with PJS. Brand-new to the website is an Illustrated Glossary written in terms kids can understand. They won't mind if you read along too. After all, how many of us have secret medical degrees so we can understand all this stuff? Don't see a term that you think should be there? Email me and let me know!
Also, check out the Defining PJS and General Medical pages in the site. The Patient Reports in the Reports and Articles section would be helpful in understanding the syndrome more in depth. For learning about the various tests suggested for those with PJS, visit the Patient FAQs page. Hint: The Site Map is a great way to find out what is on the website.
How do I explain this to my child?
It is hard to explain something that you yourself only barely understand. Yet you are responsible for helping your child feel safe and understood through this whole process. Here are some websites and other resources that can help you help your child. While the sites may not tell you how to explain this syndrome to a child, they can give you ideas to adapt things to your specific situation.
We're working on this!
What research is being done on PJS?
There are many researchers studying PJS now. They are doing it from different angles and for different reasons. Our website's main researcher wrote a newsletter in December of 2004 that gives a great overview on the research being done: Fifth Anniversary Newsletter. We're working on getting an updated newsletter ready to put on the site. In the Reports and Articles section of the website, a page devoted to Journal Articles offers links to abstracts of papers of concern to PJS.
Update: 25.June'07