I know this has been a LONG time in coming, especially for the people who don't talk to me in person very much or follow me on FB, so it's long...but mostly new even for those who DO hear from me more frequently...
As promised last week, I'm finally writing an update on my health and what my PCP and I discussed on Friday. Most know that I basically decided there is little Pittsburgh can do for me at this point, so I decided to take matters into my own hands and seek out my local doctors at Hershey Med for new insight. I sometimes feel like Pittsburgh gets so caught up in making sure I'm not in rejection or bleeding from somewhere that they tend to not look at the overall picture, but that is so crucial too! I still keep in touch with them, but am not putting myself 100% in their hands unless I have a specific transplant related issue right now.
My feelings about my overall management were validated as I felt like my PCP had some much better insight into what is happening and gave me some pretty good ideas. Nothing is a bombshell, but she validated a lot of the things I have known but Pittsburgh hasn't told me!
The Nutrition Factor:
Every Monday I get my labs done and every week I hear from my coordinator that my labs look good. I know that although my numbers may look good on paper, there is no way I am not malnourished. I am unable to keep even 1,000 calories in each day. When my PCP pulled out my labs, she noted that while my potassium, magnesium, calcium, zinc, and other minerals appear to be normal (although my potassium is borderline as usual), my overall protein lab indicating general malnutrition is quite low! She shook her head and said "Of course your mag, potassium, phos, zinc, etc are normal. You're on so many pills!" I realized she's right. I am on very high doses of supplements. It's a false indication of how much I truly am getting down when I'm getting it all in powdered or capsuled form! I told her I am so frustrated because I KNOW I am not getting enough nutrition- I am weak, I ache all the time, I am nauseous or in pain all the time, I fall a lot, I am tired all the time, and I have no energy, but as long as I look ok on paper, that's all Pittsburgh relies on. But, I was a bit flustered that my labs do indicate poor general nutrition and I wasn't told just because my specific numbers look ok.
It helped to know that because she gave me some new diet ideas. While complicated and me having to remind her from time to time of the fact that I have to avoid this or that because of one of the conditions, we did get down to a couple of things to try again. She wants me to add protein powder to whatever I do eat if I can handle the taste! She gave me the name of the exact one she uses and how much to use. She said to mix it in with my scrambled eggs or mashed potatoes. She also gave me a recipe for a fat free, sugar free protein shake...not sure about that one, but I'll try it. She said her 16 yo son drinks them every morning and he used to always skip breakfast. She promised to buy the stuff off of me if I can't tolerate it, but it's an option.
She also wants me to make baby food out of things now. Even though I chew everything up well if I try to expand beyond scrambled eggs and potatoes, she did say pureeing the food takes it down to an even more digested type state and I may do better that way. Pureeing foods is common in GP. I'm not sure how it will work with dumping as solid foods are better for that...but should be easier to digest for the gastroparesis without taking me to full liquids which is bad for the dumping syndrome!
I described to her exactly what happens to my food as it proceeds down my digestive tract...where it starts, where it stops, where it gets hung up, what the symptoms are in each location, and a number of other things. She listened and it made sense. She could see my frustration with all of it and she expressed it too! But, she looked at me as a whole and recognized how ill I have been and had ideas on how to improve my overall nutrition and health to an extent. These are suggestions not even made by the dietitian or doctors at Pittsburgh...not because they lack the knowledge or info, I just think they are overwhelmed and look at things from a transplant only standpoint most of the time. Plus, as she said, I am so well "known" to them and not quite as well known to her so she may see things they don't look at anymore.
Explanation? For EVERYTHING? Under ONE name?
I also discussed something with her that has been mentioned to me on a number of occasions, but I have not paid a whole lot of attention to because I realize there is not much that can be done and I am tired of being run through a bunch of tests anyway. I was also doing better, but since my conditions have worsened or returned, I see it as more important to pursue once again because there are a few options that may slow progression down if I know more. As most people know, nobody knows what initially caused all of my problems...not just the GP and CIP, but the long QT, abnormal potassium drops on IV potassium, low blood pressure reactions, peripheral neuropathy, Factor V Leiden (blood clotting disorder), extreme sensitivity to meds, sudden body paralysis and muscle spasms, and a whole host of other symptoms not yet linked under one specific diagnosis.
Back in 2001 or 2002, I went to the University of Rochester in NY seeking a diagnosis of Andersen's syndrome. Andersen's (now known as Andersen's-Tawil syndrome) is a genetic condition categorized under a potassium channel related periodic paralysis (HKPP). Periodic Paralysis' are conditions in which the body, for no apparent reason and not necessarily diet related, either drops or raises potassium levels suddenly and produces symptoms such as paralysis of body parts and other symptoms while the levels are either low or high, depending on type. I don't want to get into details here, but basically, I went to pursue Andersen's based on the fact that my potassium drops drastically (4.3-2.7 once in 2.5 hours on IV potassium and after a full day of receiving it!) so it is not only diet related. Andersen's specifically has the long QT element to it. Long QT is the heart condition I have which has sent me into cardiac arrest on a few occasions. People with Andersen's are especially sensitive to low potassium and at high risk for cardiac arrest when potassium is low or even borderline normal. It can also cause gastroparesis, pseudo-obstruction, and many of the other things I suffer from. Some I had back then, some I have developed since. At the time, Andersen's was just starting to be researched and there wasn't (and still isn't) a definitive way to diagnose it in most people. While a few genes had been identified, there was (and still is) a long ways to go. I fit many aspects of it, but was not clear-cut for diagnosis. They were unable to officially say that was what was going on, but they also never ruled it out or took me off the list. They still have my genetic test results to use for future studies.
I mention Andersen's as a way to lead up to something even bigger! My GI doctor at HMC at the time, who is now in NC but we still keep in touch, has thought for years that my underlying problem is somehow related to a problem with my potassium channels. He said, as recently as a year ago, that it's the only thing he knows of that would cause my body to dump IV potassium like that without abnormal kidney function. Even since the transplant I have lost IV potassium in large amounts so it wasn't just an absorption issue pre-transplant (and besides, this was IV potassium which had nothing to do with gut absorption abnormalities).
I was driving home last week from some event and I was having a lot of body pain. For years we have considered the possibility that I have an auto-immune disorder, but my docs have always said that even if I do they would treat it the same way I am being treated now- with steroids. However, I have noticed since starting on steroids that all of those problems have actually worsened. So I came home and researched what conditions out there fit my symptoms of auto-immune conditions that could be worsened (or at least not improved) on steroids. Voila! An under-active immune system of course. This could explain a lot. While I am on immuno-suppression therapy, I had signs of a weak immune system long before my transplant. When I would get septic, my white blood cell count always dropped to below normal rather than get high. Once I had a bad virus in college which should have made my counts skyrocket, yet they were only elevated one point (11, normal is up to 10). Only once that I know of have I ever had an infection where my white blood cell count went up and not down. I've also always had a significantly low body temperature which would be the opposite of an auto-immune condition. I actually feel feverish when my temperature is normal.
After further research, I discovered that a person with a weak immune system very possibly fits into a category of conditions known as "mitochondrial diseases." Also poorly understood and only recently starting to be researched, these conditions were brought to my attention about two years ago by a number of friends who have GP and CIP and other issues I have. They suggested MD as a possible cause for what is happening with me too. So, I researched even further...
Mitochondrial diseases are genetic conditions in which the mitochondria in the cells are affected which results in a person developing problems with multiple organ systems. In these conditions, the potassium channels can also be altered resulting in other problems such as HKPP, which includes Andersen's. So, I've suddenly linked up Andersen's under an overall mitochondrial disease (some of which haven't even been identified yet), which links up my GP, CIP, Long QT, potassium drops, body pain, paralysis on steroids, and muscle spasms, low body temperature, and low white blood cells during an infection.
Another problem I have led my doctor to pursue an epilepsy diagnosis in 2003, although I mentioned it to her as only happening in conjunction with drops in blood pressure. I had noticed for years that when my blood pressure would drop upon standing, not only would everything go black and my heartrate would increase, but my body would jerk uncontrollably all over. I have asked people for years if this is normal, and no one has ever been able to explain it until about a year ago. I mentioned it once and a number of my friends with a mitochondrial disease said it sounded just like POTS (Postural orthostatic tachycardic syndrome). POTS is a specific dysautonomia which, although not required, is commonly associated with mitochondrial diseases. At the time it sounded like a possibility, but I wasn't ready to pursue it as I felt like there were so many other factors going on and I wasn't on board with the possibility of having a mitochondrial disease anyway. I just felt like I would be pursuing something in left field and the doctors who even have the capabilities of diagnosing any of these things are few and far between.
Anyway, after taking all of this into consideration and putting the pieces together, it became quite clear to me that a mitochondrial disease is not at all in left field as an explanation for all of these things, plus a few other problems I have developed over time as well. So, I mentioned it to my PCP on Friday. She said absolutely to pursue it, but since they are such new conditions and would take a big trip to pursue, that I should begin by contacting the physicians via e-mail and describing my medical history and asking them if they think I'm on the right track, then considering traveling to Boston or Cleveland to see if I might in fact have an MD linking everything under one common cause. Although a genetic condition, it is not at all uncommon for no other family members to have it or show any symptoms. That was another thing that kept me from seriously considering an MD as a cause until I found out I very possibly could be the only one to ever show any signs of anything.
When recommending that I contact these doctors via e-mail, I mentioned that doctors often don't like e-mail communication because there is a lot of liability involved in that. She agreed, but also said that since MD's are so uncommon at this point, doctors who research them will probably be anxious to talk to someone like me because they want to learn as much as they can. So, she feels like they will be open to helping me figure out if I'm at least headed in the right direction before making a big trip for testing (usually a muscle biopsy is performed, which can be normal) and I may have to fight with Medicare to even get it covered if I decide to go. I'm not in a rush, but it would help me in a lot of ways to have a better understanding into what keeps happening with my body and why I have such unusual problems.
How is it now?
We discussed this. I am having a lot of problems managing the combination of dumping syndrome and gastroparesis. I mentioned a few things I had been trying on my own and she gave me feedback on some other management options as well. As a result of the appointment I have also come up with some thoughts on my own of new things to try. I know how to deal with GP and CIP. I haven't figured out how to manage two opposite conditions. However, I am afraid that the GP has worsened and the CIP is returning. I'm having more problems related to an entirely slow gut, with some dumping syndrome aspects.
For the past few weeks, in spite of the fact that I am two to three weeks beyond the last time I was supposed to have my injection for DS, my system is still running slowly. While I still have heart palpitations, sweating, dizziness, and fall into a deep sleep after I eat (the more cardiac/pancreatic related symptoms), the GI related part of dumping syndrome is not as bad. Instead, now my food isn't moving through my system at all. Recently it has been taking a few days to leave my stomach and then getting stuck in my small bowel too as I have experienced a rise in obstruction symptoms and related pain, and less of the DS GI symptoms. I still have the nasty feeling of sudden fatigue and like I've run a marathon after eating, but my food isn't going anywhere so it's lingering not just in my stomach, but through my whole small bowel too. I have the "marathon" DS symptoms when the food IS leaving via the pyloric sphincter, but once it's beyond that, it stops until the next portion of food reaches the pyloric sphincter, dumps, then stops in my small bowel. Since it takes so long for food to reach my pyloric sphincter and leave my stomach, and the food seems to only be reaching my pyloric sphincter in small portions, I am constantly both dumping and backed up. It's complicated. I don't know which condition is going to act up the most on any given day, but lately I've been eating much more on the CP and CIP diet than the DS diet because things are definitely sluggish in spite of not having had my sandostatin in at least six weeks. I often can't sleep well because I am up all night sick or in a lot of pain. I do fear that I'm headed towards TPN again. I'm fighting it, especially based on all the problems I had last fall/winter and being even more immuno-suppressed post-tx, but something has to start working because I keep getting weaker, I fall more frequently, and I have just gradually felt worse and worse and developed more problems over the course of the past year.
How am I doing otherwise?
Great otherwise! In spite of feeling sick all the time, I am happy and still moving forward with life. G-PACT is going well and there are always new things going on there! There's never a lack of things for me to do, and the G-PACT team is really amazing. I love meeting new people all the time and hearing stories. It's exciting to see so much progress and success in the organization! I have so many ideas for next steps and future projects running around in my head! I can't believe that it's been almost 9 years since we started! Sometimes I sit back and think "what the heck have I gotten myself into?" I know one thing...it's good I was so naive about what is involved in running a non-profit when I got the "bright" idea to do it in 2001 or it wouldn't exist! But it's been the greatest thing for me to have a focus in life and I really enjoy doing what I do...MOST of the time! :) Nah...I wouldn't change A THING!
I still love volunteering in the office and in the Wheelhouse at LCBC and being actively involved with my life group. Just last week a few of us went to a local organization to pack beans and rice for the people of Haiti. I'm very much looking forward to the day I pull the top off the Jeep for the summer, and then Steelers football after that!
So, overall I'm managing quite well. I do get frustrated and down on occasion, but who wouldn't? There's so much to manage and it's a constant battle without a break. I am just thankful that in spite of it all, I am here and well enough to still function in ways that can make a difference.
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