I didn’t particularly enjoy Genetics class in college, but it was interesting, and the material was very relevant to not only being a nurse but being a human.
Last week, I revisited the subject with a genetic specialist at the Cleveland Clinic. With my sister’s impending wedding, I decided it was time to bite the bullet and go figure out if the liver disease was anything that would now run in our family. I’ve seen what Primary sclerosing cholangitis can do to a person, to a life, and I’ve seen what it can do to a family. I wouldn’t wish this upon anyone, God forbid my nieces or nephews, my sons or daughters. I’d rather die than watch this play out in the life of someone I love, and whether true or not, I would blame myself.
I’ve been dreading the answer to this question for years, so my sweet friend Lauren insisted she go with me to the appointment just in case the news wasn’t good. I was so impressed with the doctor, Dr. Rocio Moran. Waiting months to get in to see her was worth it. She had read up on my history beforehand (even “Part 2” of my paper chart!) and knew exactly what PSC was. I had done research myself and knew that PSC was a mystery to geneticists.
Doctors and scientists currently believe it is partially caused by a gene, or genes, but the gene/s must be turned on by an unknown environmental factor. That doesn’t provide any answers to anyone. PSC has been seen to run in families, but the cases are extremely rare. More often than not, it comes out of no where (like in my case) with no relation to liver disease in anyone else. It usually accompanies ulcerative colitis, which I had as a child but have been confirmed not to have anymore. (Which statistically never happens. We thank God for a miracle!) Additionally, the majority of people with PSC have the cystic fibrosis gene, but having the CF gene does not mean you have the disease. (CF is a serious, life-threatening lung disease that often cuts its victims lives extremely short.) A huge percentage of people carry the CF genes, but a person can only get CF if both of their parents carry the gene. There is a 25% chance they will have it only if both parents have the gene. Relatively, that’s a very high risk. I’m going to get tested for that just in case, but if it comes out positive, it just means whoever I decide to have children with needs to be tested as well.
So for PSC… If it was caused by a single gene, which we do not know for sure, then my children will have a 50% chance of getting it. However, that is not reality. PSC is rarely seen to run in families. As for my sister, the chance her children will have it is less than 1%.
I was disappointed that I did not receive any real answers, but I was excited that Dr. Moran told me about a research study that Mayo Clinic has been working on for over a decade. It’s called PROGRESS – PSC Resource of Genetic Risk, Environment & Synergy Studies. To participate, volunteers with PSC must answer some questions and submit a blood test. Their DNA is obtained from the blood sample and “frozen in time” so the researchers can analyze and compare everyone’s DNA, looking for any commonalities. I eagerly volunteered for the study as soon as I got home from my appointment with Dr. Moran. I’m hopeful that one day, there will be answers about this terrible disease. There will be fewer people dying of cirrhosis, fewer people enduring liver transplants. Fewer people living with the burden of a disease with a variable and unsure prognosis, fewer people living in fear of the unknown, dealing with waking up with a chronic illness – every. single. day.