Tonight there is a support group meeting for Alpha-1 folks at OHSU. Usually Dr. B is there, or his NP, and sometimes (like tonight) a guest speaker comes. I was informed of this get-together by an Alpha-1 coordinator and told that I should go. At first I was all excited! I thought that this would be a great way to meet not only other A1AD people, but also Dr. B or Lynn and maybe get in to see him sooner because of this. I planned to write up a small list of questions and ask the most pertinent ones as well. I wanted Ryan to go w/me but I knew that was not going to happen given there's no one to watch the kiddos. As the days drew closer I started to get nervous. Not only would I have to find my way to OHSU again, and figure out where the meeting location was, but I was going to be in a room full (?) of A1AD patients who are most likely having severe lung issues. They may or may not be SZ's, ZZ's, Null/Null, and/or on O2, in need of a lung transplant, or already had a lung transplant. That doesn't bother me. What does bother me, and thus has made me severely hesitant to go, is my current phenotype status. Being an MZ can bring skepticism from some. Many doctors still think a person w/the MZ phenotype cannot have lung or liver issues. Unfortunately that is not the case. There are many, many MZ's out there who have already had transplants, are on the waiting list, or are just starting their journey. However, due to some attitudes in the medical profession this has leaked over into the patient area. I recently was "friended" on MySpace by a seemingly nice mom whose young daughter is having liver issues due to A1AD. We had a couple of back and forth emails about liver problems and the question as to what phenotype I was come up. So I answered her. She responded with, "Oh, you're only an MZ?"--and then I never heard from her again. I'm guessing somewhere along the way she has heard that MZ's are ONLY carriers and NEVER get sick. Or maybe she thought she responded to the email but didn't. Funny how having something so small as one normal gene can change an entire perspective.
So here I am having all but completely talked myself out of going and yet wishing I'd just get the nerve up to go anyways. If I knew for a fact that I had lung issues related to A1AD there would be no hesitation. I'd go. But right now I just have symptoms of the disease and an MZ phenotype. Part of me feels like I would almost be intruding into this support group w/out a firm diagnosis. The other part of me says that's silly and maybe I'd meet some really great people and learn a lot. I still have time to decide. The meeting is at 7 p.m. I'll update later as to if I go or not.
Showing posts with label MZ. Show all posts
Showing posts with label MZ. Show all posts
Tuesday, November 13, 2007
Sunday, November 4, 2007
NASH
Last Wed. I made the trek across the river to OHSU's G.I. clinic. The building itself was quite large and a little strange to maneuver around. I had already gotten lost along the way and was flustered, but the cherry on top was when I went to check in and got the, "Didn't they call you?" greeting. Turns out Dr. Z had a family emergency and they had tried to call me. They didn't have my new home number however they did have my cell phone and I never received a call on that. Luckily they had set me up to see another doctor. I filled out a form, got called back, weighed, vitals taken, and then waited patiently. Dr. N came in and greeted me warmly. He had already looked over my chart--not sure what info they all had on me--but needed the results of my liver biopsy. Gotta love my bigass binder of medical paperwork. I pulled it out, let him read it, he nodded, and handed it back to me. I was asked what my main concern was for the day. This was a first! I told him that I was obviously concerned about my liver issues and wanted to know what he thought was causing it. He, too, does not think I have Alpha-1 Liver disease and said he's never run across an MZ patient that was seriously ill. Now I "know" of some MZ's who have already had a transplant or are waiting for one and informed him of such. He seemed surprised and said he'd love to actually talk to him--I guess from a research stand point it interested him. Still, Dr. N guessed that these MZ's who've had serious liver disease actually had underlying, undiagnosed liver issues (such as NASH) and that when their doctor couldn't figure out the cause of the inflamed liver, saw the low levels of Alpha-1, and hence made the diagnosis of A1AD liver disease. Not so sure that's the case, honestly. Especially not after "talking" to them this weekend. I should say that he did state on more the one occasion that he could be wrong which was good to hear. Better that then, "No way it could ever be this!!" Dr. N says he believes I have NASH - Non-Alcoholic Steatohepatitis. When compared to A1AD liver disease there are some similarities such as not being able to stop the progression of the disease and not knowing how bad your liver will get. In people such as myself (i.e. not overweight, not a drinker, and not diabetic) they are wondering if it isn't a genetic condition like A1AD. There is also a chance I could develop diabetes given I most likely have insulin resistance (or so says Dr. N). In reading more about that condition it does coincide w/my hypoglycemia problems. I don't think my insulin levels have ever been checked so no way to know for sure at this point. I was told that so long as I stay on a fairly healthy diet I will most likely not develop diabetes. Of course there's no way to know for sure. :o/
For now the approach is for me to have blood tests at least twice a year. Dr. N said he could almost guarantee me that my AST's and ALT's would go back up. Apparently that is the M.O. of NASH. The levels wax and wane but aren't always indicative of damage being done. On the contrary, actually--which is really frightening--but they are seeing patients who have never had raised liver enzymes end up needing transplants from this disease. Definitely a "silent liver killer." I'll be seen at least once a year, maybe more often, and be watched. I was given an article about the correlation between MZ Alphas and the effect it has on folks w/NASH and Hep C. It seems that being just an MZ worsens the NASH or Hep C. Double whammy!
We discussed a few other things, things that either are no biggy and/or I can't recall at this present time. If I remember them and they seem pertinent then I'll add them later. For now the new diagnosis brings my total of crazy ass things that are wrong with me (and actually diagnosed) to: SIX. Go me.
Lung wise I've been a lot more wheezy, short of breath, and feeling run down. I thought for sure I was coming down w/a head cold given my symptoms but either it was the shortest head cold ever, or it's something else. I do know that the previous owners of the house we're in had cats, so that could be aggravating things as I'm very allergic to cats. Or it could just be me adjusting to the wet/damp/moldiness that is Portland. I have a tentative appt. w/Dr. B (pulmo at OHSU) scheduled for Feb. '08. Crappy. I may get moved up after I send him my Alpha-1 stuff, chest xray, and breathing test from forever ago. I also plan to write him a letter and let him know how bad things have gotten. Definitely not horrendous or anything, but I'm not liking how I'm feeling. Dr. N seems to think that w/an Alpha-1 level of 71 that I should be just fine. Once again I was told that this is quite low for an MZ. Maybe I'm actually an SZ. Need to do that damn finger prick phenotype test for the love of gawd!! Hopefully I can get in sooner and update once that happens.
Arthritis has taken on a whole new meaning in this type of weather. Luckily it has been wonderful here!! I keep waiting for that to change, the sun to go away, the gray to roll in, the rain to come, and to feel the true meaning of living west of the Cascades. And yet I've been in more pain despite the mild days. Achy bones for sure!
Head splitting open/fullness thing has gotten better from the last time I blogged, but it's still there. Seems that as soon as I start to think it's gone I do something that requires quite a bit of physical effort and bam...it's back. The fact that it does seem to be happening less is hopeful.
On a more happier note, we are loving it thus far in Portland! We do miss our friends and my dad, but overall I think we made the right decision. The kids are adjusting well at school, Ryan likes his job (even though he's only been there for two days), and I'm learning how to get around our little neck of the woods. Lexi and Kya are handling the stairs much better than we thought they would. Kya isn't impressed by having the office as their "bedroom" instead of sleeping in crates. Weirdo. Lexi loves it, but they both wake us up at night when they move around a lot as the office is right above our bedroom. We have discovered the wonders of Ikea and are hooked now. Bought brand new bedroom furniture for our bedroom and both the kiddos' rooms. Soooo cheap and yet it's heavy, feels expensive, and looks great! I think it will take Ryan at least a year to recover from putting it all together, though. ;o) It's been hard not to eat out every night w/all the restaurants to choose from. I can't say that we've had crappy food yet (knock on wood). I can't wait to show those of you planning a visit out/up here all around our favorite haunts! For now...it's late...I'm exhausted and off to bed!
For now the approach is for me to have blood tests at least twice a year. Dr. N said he could almost guarantee me that my AST's and ALT's would go back up. Apparently that is the M.O. of NASH. The levels wax and wane but aren't always indicative of damage being done. On the contrary, actually--which is really frightening--but they are seeing patients who have never had raised liver enzymes end up needing transplants from this disease. Definitely a "silent liver killer." I'll be seen at least once a year, maybe more often, and be watched. I was given an article about the correlation between MZ Alphas and the effect it has on folks w/NASH and Hep C. It seems that being just an MZ worsens the NASH or Hep C. Double whammy!
We discussed a few other things, things that either are no biggy and/or I can't recall at this present time. If I remember them and they seem pertinent then I'll add them later. For now the new diagnosis brings my total of crazy ass things that are wrong with me (and actually diagnosed) to: SIX. Go me.
Lung wise I've been a lot more wheezy, short of breath, and feeling run down. I thought for sure I was coming down w/a head cold given my symptoms but either it was the shortest head cold ever, or it's something else. I do know that the previous owners of the house we're in had cats, so that could be aggravating things as I'm very allergic to cats. Or it could just be me adjusting to the wet/damp/moldiness that is Portland. I have a tentative appt. w/Dr. B (pulmo at OHSU) scheduled for Feb. '08. Crappy. I may get moved up after I send him my Alpha-1 stuff, chest xray, and breathing test from forever ago. I also plan to write him a letter and let him know how bad things have gotten. Definitely not horrendous or anything, but I'm not liking how I'm feeling. Dr. N seems to think that w/an Alpha-1 level of 71 that I should be just fine. Once again I was told that this is quite low for an MZ. Maybe I'm actually an SZ. Need to do that damn finger prick phenotype test for the love of gawd!! Hopefully I can get in sooner and update once that happens.
Arthritis has taken on a whole new meaning in this type of weather. Luckily it has been wonderful here!! I keep waiting for that to change, the sun to go away, the gray to roll in, the rain to come, and to feel the true meaning of living west of the Cascades. And yet I've been in more pain despite the mild days. Achy bones for sure!
Head splitting open/fullness thing has gotten better from the last time I blogged, but it's still there. Seems that as soon as I start to think it's gone I do something that requires quite a bit of physical effort and bam...it's back. The fact that it does seem to be happening less is hopeful.
On a more happier note, we are loving it thus far in Portland! We do miss our friends and my dad, but overall I think we made the right decision. The kids are adjusting well at school, Ryan likes his job (even though he's only been there for two days), and I'm learning how to get around our little neck of the woods. Lexi and Kya are handling the stairs much better than we thought they would. Kya isn't impressed by having the office as their "bedroom" instead of sleeping in crates. Weirdo. Lexi loves it, but they both wake us up at night when they move around a lot as the office is right above our bedroom. We have discovered the wonders of Ikea and are hooked now. Bought brand new bedroom furniture for our bedroom and both the kiddos' rooms. Soooo cheap and yet it's heavy, feels expensive, and looks great! I think it will take Ryan at least a year to recover from putting it all together, though. ;o) It's been hard not to eat out every night w/all the restaurants to choose from. I can't say that we've had crappy food yet (knock on wood). I can't wait to show those of you planning a visit out/up here all around our favorite haunts! For now...it's late...I'm exhausted and off to bed!
Tuesday, July 3, 2007
Answers
I gave in and called Dr. R's nurse on Fri. and explained that DH had gotten job offers in two completely different cities (more on that in a bit), so finding out my test results would be muy helpful if possible. She promised to call and check on them, yet I heard nothing. Thing is, she did call me that Fri.--she just called my business line and when I saw the answering machine light blinking I thought it was another client that had called. I listened to the message on Sun. and the nurse had said she tried to get the results but that they weren't ready yet. I was given the dates of Mon. or Tues.
Patiently I waited all day Mon. and resisted the urge to call and bug them again. By late morning today I couldn't handle it and I called. Dr. R called me back--I knew the answer then. She said my Alpha-1 level was very low (mine was at 71, normal is 100-200) and advised me not to smoke and definitely stay away from second-hand smoke. At this point I got a little panicked as she hadn't told me what my genotype was and didn't sound like she had the results, so I asked if there were any results that read "ZZ" or "MM" or something like that. "Oh..." she said, pausing, "Yes...M1Z. I think...wait, maybe it's 'MM.' No, that's normal. Yes, you're an 'M1Z'." I was a little shocked I guess. Part of me figured this would be another dead-end despite all my "surety's" and symptoms and blood test results. Still, I gathered my wits enough to ask that Dr. R make a copy of the paperwork for me and leave it at the front desk. She happily agreed and stated that I probably knew more about this then she did. She's probably right--no offense to her but A1AD is rare and most docs don't know much about it.
Immediately I delved into the internet reading as much as I could. I also called Ryan and left a message for him to call me as I had my test results back. Turns out the MZ gene makes me a "carrier"--obvious, right? There are more cases of liver issues w/the MZ than lung, however both can be affected, though rarely both of them together. M = normal gene, Z = severely low gene. Half 'n Half baby! Either way, not good but it could be worse. Null/Null is really shitty, while ZZ is just a step above it. Interesting stuff I'm telling ya!
Anyways...I have no doubt that the GI doc I'll see next week will be clueless about A1AD. I am seriously thinking about calling there and finding out if this doc knows anything about it because if she doesn't, it won't be worth the money. Of course the other part of me knows that this is some serious shit right now and the fact that I'm getting worse instead of better means I need to get the liver stuff figured out like yesterday. I am so bloated I look pregnant. This is a sign of cirrhosis. I have others too. I also found out that a medicine I am on is commonly prescribed for jaundice, so it's very possible that if I weren't taking this med I would be yellow. Not sure if the med is masking it, or if I don't have it. Another question for the GI doc. I am becoming more and more fatigued. Everytime I think I can't get any more worn out than I already am...BAM...it happens. I'm sure more restful sleep would help yet I have a helluva time falling asleep these days. Not that it matters. I could go to bed at 10 p.m. and wake up at 9 a.m. and still feel like I hadn't slept at all.
The job thing...DH was offered another position at the same company, only in Portland. There is also a job opening (same company) for the position he's in now in New Hampshire. We discussed the second location and while the city looks beautiful and we'd be close to Boston and places like New York, we're just not sure we'd want to "do" the winters. Plus I'd still be about an hour away from a big hospital. So, we're shooting for Portland. He submitted his resume although he's already been told he'll get the job. Now I just have to sell the biz, we have to sell the house, buy one up there, and do it all before school starts!! NO PRESSURE! Honestly, we're stoked though. Not looking forward to the process of it all, yet now my dad can have a true pick of jobs, DH can get into one that he's been interested in for awhile, I can be near a big hospital, and the kids will be closer to the coast (that they adore), OMSI, the zoo, etc. and so forth! Plus, w/the salary boost I won't have to work. The plan is for me to breed our dog if her health is fit for it (hips, eyes, and heart), keep one of her pups, and if that pup passes the health stuff when she is 2, then breed her as well. Otherwise, it's taking care of myself!! I am most likely facing a transplant, possibly soon, maybe later so I need to get in shape for whatever life throws at me.
The answer to my question as to what's wrong with me sucks...but it's an answer...and now I can move forward with doing what needs to be done to stay around for awhile.
Patiently I waited all day Mon. and resisted the urge to call and bug them again. By late morning today I couldn't handle it and I called. Dr. R called me back--I knew the answer then. She said my Alpha-1 level was very low (mine was at 71, normal is 100-200) and advised me not to smoke and definitely stay away from second-hand smoke. At this point I got a little panicked as she hadn't told me what my genotype was and didn't sound like she had the results, so I asked if there were any results that read "ZZ" or "MM" or something like that. "Oh..." she said, pausing, "Yes...M1Z. I think...wait, maybe it's 'MM.' No, that's normal. Yes, you're an 'M1Z'." I was a little shocked I guess. Part of me figured this would be another dead-end despite all my "surety's" and symptoms and blood test results. Still, I gathered my wits enough to ask that Dr. R make a copy of the paperwork for me and leave it at the front desk. She happily agreed and stated that I probably knew more about this then she did. She's probably right--no offense to her but A1AD is rare and most docs don't know much about it.
Immediately I delved into the internet reading as much as I could. I also called Ryan and left a message for him to call me as I had my test results back. Turns out the MZ gene makes me a "carrier"--obvious, right? There are more cases of liver issues w/the MZ than lung, however both can be affected, though rarely both of them together. M = normal gene, Z = severely low gene. Half 'n Half baby! Either way, not good but it could be worse. Null/Null is really shitty, while ZZ is just a step above it. Interesting stuff I'm telling ya!
Anyways...I have no doubt that the GI doc I'll see next week will be clueless about A1AD. I am seriously thinking about calling there and finding out if this doc knows anything about it because if she doesn't, it won't be worth the money. Of course the other part of me knows that this is some serious shit right now and the fact that I'm getting worse instead of better means I need to get the liver stuff figured out like yesterday. I am so bloated I look pregnant. This is a sign of cirrhosis. I have others too. I also found out that a medicine I am on is commonly prescribed for jaundice, so it's very possible that if I weren't taking this med I would be yellow. Not sure if the med is masking it, or if I don't have it. Another question for the GI doc. I am becoming more and more fatigued. Everytime I think I can't get any more worn out than I already am...BAM...it happens. I'm sure more restful sleep would help yet I have a helluva time falling asleep these days. Not that it matters. I could go to bed at 10 p.m. and wake up at 9 a.m. and still feel like I hadn't slept at all.
The job thing...DH was offered another position at the same company, only in Portland. There is also a job opening (same company) for the position he's in now in New Hampshire. We discussed the second location and while the city looks beautiful and we'd be close to Boston and places like New York, we're just not sure we'd want to "do" the winters. Plus I'd still be about an hour away from a big hospital. So, we're shooting for Portland. He submitted his resume although he's already been told he'll get the job. Now I just have to sell the biz, we have to sell the house, buy one up there, and do it all before school starts!! NO PRESSURE! Honestly, we're stoked though. Not looking forward to the process of it all, yet now my dad can have a true pick of jobs, DH can get into one that he's been interested in for awhile, I can be near a big hospital, and the kids will be closer to the coast (that they adore), OMSI, the zoo, etc. and so forth! Plus, w/the salary boost I won't have to work. The plan is for me to breed our dog if her health is fit for it (hips, eyes, and heart), keep one of her pups, and if that pup passes the health stuff when she is 2, then breed her as well. Otherwise, it's taking care of myself!! I am most likely facing a transplant, possibly soon, maybe later so I need to get in shape for whatever life throws at me.
The answer to my question as to what's wrong with me sucks...but it's an answer...and now I can move forward with doing what needs to be done to stay around for awhile.
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