Managing an "Orphan Disease"

"Carcinoid cancer and carcinoid syndrome are orphan diseases that do not garner as much attention as more common diseases, but we are trying to change that" - Dr. Richard Warner



There are about 11,000 to 12,000 people diagnosed with a carcinoid tumor each year in the United States. About two-thirds of all carcinoid tumors are in the gastrointestinal system. Specifically, appendiceal carcinoids account for about 26% of all carcinoid tumors, and out of these - only about 5% of appendiceal carcinoid tumors are greater than 2 cm.

Bottom Line (approximatly): less than 156 people are diagnosed with an appendiceal carcinoid tumor greater than 2 cm every year in the United States; I am one of them.

My friend Christine jokes that I won the very elusive "unlucky lottery" - and when you consider that 1,600 new lottery millionaires are created every year...she makes a darn good point.

If it wasn't enough to have a rare cancer, I also have a laundry list of very unusual symptoms:

* constipation after a right hemicolectomy (Dr. Nash teasingly pointed out during my last visit that this symptom has been conspicuously missing from my previous blogs... touche doctor). Usually, people without half a colon have the "opposite" problem with their bowels. Again, leave it to me to be the odd duck. It's rare, but sometimes the nerves in the colon negatively respond to surgery and the colon doesn't work as well afterward. Dr. Nash said he only sees this reaction in a few patients a year, and I'm on a daily dose of Colace (perhaps permanently).

* a heart rate that drops as my exercise intensity increases

* weakening muscle strength and increased joint pain

* exhaustion to the point of tears

* fevers and nausea

The most frustrating issue is that I'm getting progressively worse with each month - sometimes it's even hard to walk now. Is it related to the carcinoid? Since the MRI didn't show signs of the carcinoid metastasizing in the liver - probably not... but it's such a rare disease, how can we be sure? In search of answers, Dr. Nash and I have mapped out the following plan (including my annual colonoscopy since mid-gut carcinoid increases my risk of colon cancer):

Future Schedule

May 5th: cardiology appointment - Dr. Avendano (Cardiovascular Interventionalists)
June: rheumatology appointment (Hospital for Special Surgery in NYC)
July: colonoscopy - Dr. Maloney Patel (Robert Wood Johnson Hospital, CINJ)
October 7th: follow-up appointment - Dr. Nash (Sloan Kettering)

Thanks everyone for your continued support, love and prayers; I couldn't have gotten this far without you.