Discussions By Condition: Medical Stories

long-term survivor

Posted In: Medical Stories 0 Replies
  • Posted By: Anonymous
  • December 6, 2006
  • 05:32 AM

Hi, I am not a regular here, saw this as a link from a med site on Cirrhosis. After on & off wierd symptoms I finally had a liver biopsy in '93 and the result was so unbelievable it was sent out for a second opinion. I have a very rare disease called ARPKD/CHF. And that is the short name! It stands for Autosomal Recessive Polycystic Kidney Disease/Congenital Hepatic Fibrosis. Only one in 20,000 live births have this, much less the ones that didn't make it through to birth. It's a "Recessive" disease, that means neither of your parents had or have it, they just both pass on a recessive gene and each of their kids have a 25% chance of getting it. I'm the only one of three. Anyway 50% of kids with this live to around two and the rest sometimes make it all the way to 30. I am 53! This is very rare too and I am even in a ten year study on it at the National Institute of Health. At first it was a low white-blood count that showed something was up when I was 12. That was back in '66 when this disease had only been named for about five years. I had a lot of tests including a bone-marrow aspiration (very painful) and still they couldn't figure it out. The only thing they noticed that turned out to be a symptom was an enlarged spleen. So anyway many years later as an adult a CAT scan of the kidneys showed something was up with the liver and so on... to the biopsy. Part of the danger of this is untreated high blood pressure or "portal hypertention." A school nurse who discovered it in high school (and I thought she was a pain in the butt at the time) was the one to make a big deal of it and it turns out she was really "on the ball." Years of high-blood pressure meds are a large part of what has gotten me this far, and it took years to get it under control after higher and higher doses of different drugs until the right combo and amount was found for me. Anyway for years now the fibrosis has become cirrhosis as the scarring of the liver leads to further damage. I'm only now starting to have symtoms of advanced liver disease. I have already been told by specialists that I never should have lived this long. So I am not alarmed to know this may kill me soon, I know I've been overstaying my time here for way too long! Anyway I have two things to say to you all, one is get used to everyone thinking you got cirrhosis from drinking, even if you say you don't and never have, just get used to it and let it pass 'cause most won't believe you anyway and what does it matter really if YOU know the truth. And number two, don't EVER let a Dr. tell you how long you have. I know this not just from me but from my dad's death which WAS from alcohol. A Dr. told me in '93 I had about two years, that was 13 years ago and I'm still doing pretty well. So take what those Dr.'s say with a grain of salt unless you can have their opinion agreed with from a liver specialist, and I don't mean a gastro-enterologist. Go higher up, if one is available and you can pay for it. A hepatologist is what you are looking for. Bring all the records you have. (always ask for copies.) Don't get alarmed by one really high or low reading. My ammonia level is around 98 but last year it was once 386! Could be something as simple as a mistake in the way the blood test was done too. An ammonia blood sample is supposed to be put on ice as soon as it is taken. Most phlebotomists (the one taking the blood from your arm) don't even know this. Now I won't even sit down until they bring the ice. Some I can hear then asking "Where is the ice?" So you know it would have never happened. This kind of thing changes the results. Read up on everything you can from trusted sources. Don't even listen to me unless you can confirm it, don't trust anyone! Just don't stay in denial, later you will kick yourself when it is too late. I didn't do that, but I read that so many do. Those of you who have a loved one don't give up on the pressure, make the appointment even. There is always a sense of relief just to know what's up and what could help. Well now that I wrote a book here let me say I wish the best for all of you, not just the sick but for all of you who care and feel helpless. Your support and concern means more than you know. Be honest, most sick people will trust you then. You can be honest in a gentle way. Gotta go to the drugstore and pick up my meds! So ta-ta for now! - (from 53 yr old female.)

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