Thursday, November 12, 2020

I'm not an alcoholic. It's my genes!

When I first started developing GI issues in 2009, my complaints were brushed aside. Surely, my pain and symptoms were not as bad as I was making them out to be. Things kept getting worse and worse. I had my gallbladder taken out in 2010. I then kept losing weight and got a feeding tube four months later. A year later, I was still very sick.

After doing extensive research, I discovered it my was my pancreas making me sick. I could not eat fats. I could eat tiny amounts of protein. Fruits and vegetables were my only safe foods, but even these also caused pain and nausea. No one believed me. I carefully unfolded my GI issues to a gastroenterologist and told him my pancreas was the major issue with my GI tract. I was told no, it was not. I went home, ate a small piece of salmon. Four hours later, I was in the emergency department with a pancreatitis attack. The gastroenterologist decided "maybe" it was my pancreas which was causing my GI issues. I was referred on to a pancreas specialist.

For the next several years, I was in and out of the hospital with pancreatitis attacks. I was constantly told I was having problems with my pancreas because I was an alcoholic. When one doctor said this to me, I stared at him and said, "Yes, if you read the 'textbook', it states people who drink alcohol excessively for 30 years or more are at risk for developing pancreatitis. I am only 28. Even if I started drinking in my mother's womb, I still would not have 30 years of alcohol consumption!" The doctor finally dropped the subject. But still, for the rest of my life, any time I mention pancreatitis, I am told it is because I am an alcoholic. 

In September, I had genetic testing done which screened for 12 genes which are known to affect the pancreas. I have patiently been awaiting my results. Finally, my appointment came with my physician. The long wait had come to an end.

The doctor started, "You have this gene variant. In itself, it has a low likelihood of causing pancreatitis. In the presence of other factors such as diet and other medical issues, it can cause issues with the pancreas."

I was so happy. Yes! I have something wrong with my genes!

My doctor continued to the next page. "You also have this gene variant. It can cause recurrent attacks of acute pancreatitis..."

"Excellent!" I thought. "There is something wrong with my pancreas."

The doctor kept going and going. I have SIX gene variants. None of them on their own are known to cause significant issues with the pancreas, but having six different gene variants--one causes chronic pancreatitis, one causes recurrent attacks of acute pancreatitis, one causes pancreatitc exocrine insufficiency, one is associated with cystic fibrosis and two other gene variants are associated with pancreatitis--this is significant.

My doctor joked with me. "Well, now we know you are not a closet alcoholic. You definitely have something wrong with your genes." I laughed, but I also silently winced thinking about all the times I was relentlessly accused of being an alcoholic. I will save a copy of this genetic report to my medical files. The next time I am accused of being an alcoholic (or accused of faking my medical issues), I will pull out these results. Maybe these genetic test results will finally dispel the notion that I am not an alcoholic.

It was also noted on the report there is a STRONG suspicion that pancreatitis runs in the family. More information needs to be obtained and testing done, but most likely there is a gene unique to my family which causes pancreatitis. After all these years, it feels so good to finally be vindicated!


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