I don't know why I continue to write in this blog. No one reads it. My whole intentions were to inform others of a rare disorder in hopes of saving someones life.... However, I made a pact with myself and I plan to keep it.
In case you are reading this before all the previous posts, the name for this is actually a genetic disorder called HHT & Juvenile Polyposis - also known as SMAD4. HHT & JP is 3% of all HHT patients. the odds of having this disorder is 1 in 100,000. This can be found by testing the DND. If a person has this, that means there is a mutation in the genes. Juvenile Polyposis (JP) is part of HHT; though, it plays its own roll. JP is where weird growths, called polyps, grow in the stomach, small intestine and/or large intestine. These polyps cause horrible symptoms: nausea, vomitting, diarrhea, weight loss, bleeding, cancer, and possibly death. A person with JP needs to complete a colonscopy and upperscope at least once a year. Also, a person with JP has a much higher chance of getting colon cancer.
The amount of polyps that appear varies. Some people have four or five polyps in their whole life, when others (such as me) have hundreds or thousands in a life time. About 75% of people with JP have a parent with the same gene mutation. Though, there is a 50/50% chance a person with JP will pass it down to their child.
If a person has Juvenile Polyposis then that person must have HHT; however, a person with HHT will not always be diagnosed with JP. So, if a person who constantly has polyps in their small intestine and/or large intestine, please be sure to get tested. Just because a person doesn't have signs of HHT, doesn't mean that it's not laying dormant.
My resources came from a booklet I received at an HHT conference I attended in Dallas, TX. I also used two websites that I think would be helpful for you:
1. http://www.ncbi.nlm.nih.gov/books/NBK1469/
2. http://ghr.nlm.nih.gov/condition/juvenile-polyposis-syndrome
3 comments:
Please don't stop writing, especially if it's an outlet for you to discuss your conditions. Even if no one is reading it now, it will be help to some person, at some point. :-)
Thanks for making this blog. it's a good suport
Please don't stop writing!! I just happened upon your blog… just now..I have HHT. I'm 50 yrs. old woman, my mom has it, my grandmother & brother… have had multiple surgeries on my small intestine to cauterize telangdectasia's more Iron infusions than I can count. I have 7 Dr.'s & I feel like I'm teaching them… most of the time. I had never heard of JP! although I've had the colonoscopy's & endoscopy's they say I could be losing blood where they can't get to…… ARGH! THANK YOU FOR WRITING!! I would love to talk to you if possible over the phone?? My name is Christine , I live near Boulder, Colorado. I'm new to this blogging thing so not sure how to relay my info…..?
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