NOTE: Text between astrics (***) is information containing how I found what my true primary diagnosis is. If this is of no interest to you, skip it and scroll to the text below the second set of astrics (***). Please read discalimer at the bottom of the page.
I have never felt this way before.
I spend a good amount of time in patient advocacy in my other life. :) and I have seen this before: a misdiagnosis. And that's understandable a lot of times. It still doesn't make it fair and can be harmful, as treating the former diagnosis could be WAY different than treating the other one.
And not to say that this doesn't happen, it's just that I have not ever seen or heard any situation like what I have experienced this week. What I experienced, as I am working on helping a consumer connect to some resources due to the fact that her healthcare team seems to be completely disregarding her needs, I have found out that not only was I misdiagnosed.
I was lied to. By my doctor.
I have a geneticist in St. Louis, and after a year of the consult and the blood work and the muscle biopsy was told that I had CONFIRMED mitochondrial disease. Even the specific complexes. Even went on to be kingpin of my multiperson treatment team, since with a mito patient, non of the same rules apply. Every medical anomaly I was experiencing was chalked to mito. Everything. This recent rapid decline was even being told to ME, AN INFORMED PATIENT, that ALL of this was MITOCHONDRIAL DISEASE.
But the symptoms that I've been experiencing, starting six years ago and slowly building up and everyone peering at me oddly. Yet I could not explain why any of this was happening. But the proof was all in the proverbial pudding: documented over and over and over were symptoms, scary and life threatening symptoms that we all felt that could not be treated because there is no cure or even any real treatment for mitochondrial disease.
Here at Landmark the doctor had his reservations -- even after talking to my geneticist. Even after adhering to "my particular" mito protocols (that weren't all that helpful). There should have been a point of stability at least. Yet as we were making some progress despite what my body was doing, albeit not anything like I wanted to see as far as tearing down my limitations, odd symptoms that were new even to me springing up. They could have stalled progress but didn't.
My second week here, my seizures were still out of control. My blood pressures have been consistently low...way too low. Almost everyone chalked it up to my being small, or the pain meds. My CC doc just documented. My heart rate has been high...too high. Almost everyone chalked it up to pain and anxiety. But even after pain meds my heart continued to blast away at 115bpm or higher. My CC doctor just documented. That coupled with other symptoms had him suggesting bringing a cardiologist for workup.
I had the initial assessment with plans to do further testing. He consulted with his teacher...at Harvard University. I received MULTIPLE blood work ups. One test ended up with eight consecutive blood draws. Which in my condition necessitated the need for a blood transfusion.
Suffice to say the results were mind blowing, mind bending, and I cannot believe I am speaking about my own life at this point. This past Wednesday the cardiologist, neurologist, and the CC (critical care) doctor all had a pow wow party in my room. The results were telling, yet bittersweet.
I do NOT, in fact, have mitochondrial disease complexes I & III. THAT is good news. There is no real treatment for mito, and no cure. I will continue to advocate for it as I have made so many friends who are affected by it and spreading awareness of an illness that affects so many people that has no funding, research, or voice. I want to be part of the collective demand for help.
BUT, I have an entirely different condition. I have a condition called Autonomic Autoimmune Ganglionopathy. It is a form of both autonomic dysfunction and autoimmune disease, with a specific antibody that affects ganglion cells. It is very, VERY rare. So rare, in fact, that not ONLY am I the first one to be diagnosed with this illness in mid Missouri. I am the first to be diagnosed in ALL of the STATE of Missouri. There is almost no information on this illness...even on the coveted Google. Halfway down the first page of Google, you hit someone's blog posting of Google...and when you hit the blogs, that is the end of all credible information. If I remember, there isn't even a Wiki of any sort available.
In addition to AAG, I also have Multiple Food Allergy Syndrome. Family members will have their reservations on this one and I did too. I have never had an anaphylactic reaction to anything, ever. This was determined by blood work (an OVERWHELMING presence of IgE antibodies found in the blood samples drawn for this purpose). I am back on the food trial, but I can no longer have: wheat, eggs, soy, seafood of any kind, milk products of any source, tree nuts, legumes (peanut products, lentils, or beans), tropical fruits, or any kind of vegetable. While here in the hospital I still have to have one milk product (Greek yogurt) and one soy product (soymilk). Resources are limited and these are my main sources of protein. In addition to that, I have strong adverse reactions to artificial sweeteners (all. I get migraine type headaches and hypersensitivity to my surroundings. except straight stevia. Tru Via, other store brand "stevia" aren't straight stevia because it isn't all that marketable. It has quite a bit of different filler (maltodextrin) suited to the general population's taste buds and for profits), sucrose and fructose (they are chemically closely related. I sweat profusely and my heart pounds even faster), gluten (urticaria, a painful skin reaction), and fibrous foods (due to almost not peristalsis).
Treatment for AAG: To start, Intravenous Immuno Globulin (IVIG). This will basically rebuild my immune system over time and could potentially put me in complete remission from my symptoms: inability to stand or walk, lack of bladder contractions, dilated pupils, dry orifices (eyes, nose, mouth), and maybe even the
If that is ineffective...
Plasmapheresis: This procedure involves the extraction of blood, where is is circulated through a machine to extract the plasma to discard. Once the unhealthy plasma is discarded, donated plasma (with a combonation of normal saline and possibly albumin) is reintroduced into the extracted blood and re-infused. This process is also meant to rebuild the immune system, as well as strengthen weak muscles and hopefully potentially bring one back to a semi-normal semblance of health.
All this to say: when I found that my geneticist outright LIED to me, I fired him. It is a total disregard for the Hippocratic oath to "First do no harm...". I had to experience PURE AUTONOMIC FAILURE (PAF) in order for anyone to catch that I did NOT have mitochondrial disease. Luckily, for both AAG and Multiple Food Allergy Syndrome I don't need a geneticist. I need a cardiologist, a neurologist, a dietician, a hemotologist, and perhaps others as needed.
More information on IVIG: http://www.bdipharma.com/Clinical-What-is-IVIG.aspx
More information on plasmapheresis (long but good): http://health.howstuffworks.com/medicine/modern-treatments/plasmapheresis.htm
There is a distinct difference between not getting along with a particular doctor because of personality differences or, if inpatient, bedside manner. Some of the doctors with the least amount of communication skills are also the most brilliant and will be honest with and treat you well (physically). While seeing a doctor you don't particularly like is a factor to consider, that is not a sole reason for firing a doctor.
Here are some really big red flags that you SHOULD consider firing a doctor, for SAFETY reasons:
He doesn't listen to or help explain any of your concerns: A doctor is a public servant. He is supposed to work for YOU, not the other way around. You as a patient have your own responsibilities, but you are the one who is supposed to be steering the ship. If appointments go something like: his observations in that moment deduce that you are fine, you look well, your weight seems stable, the last blood draw seemed normal, and then gives you 10 more minutes of his time asking you if you have questions, and he just nods and gives a simplistic answer to all questions, every time, and never admits that he has little understanding. If this is happening, and you know something isn't right, and he refuses to give a referral even if you ask for one...that means it's time to start doctor hunting. But don't hand him the pink slip until you have found someone else.
He is disinterested: He appears to be annoyed by your very presence in the room. Again, says the precursory "right" things. If you feel unheard, it's time to move one.
You're sick and not getting better: If you have a dianosed illness and you are not experiencing ANY reduction in your symptoms, you need first to bring this up with him. He may be unaware you are still symptomatic. Also, you may want to familiarize yourself with your "baseline" systolic/diastolic (top #/bottom #) blood pressure, pulse, and temperature. Or, if you are in the care of a psychiatrist (I am), take note of how you are feeling emotionally and if you consistently feel down, slow, apathetic, spacey, speedy, anxious, fearful, forgetful, irritable, etc. These are all important things so you can share any major differences. If after several mentions of your symptoms not improving AT ALL (many conditions improve very, very slowly, which is nothing you nor your doctor can help) or you are getting even worse, it may be back to the drawing board. In some cases there are times when a doctor will order bogus tests or offer unorthodox or even dangerous treatments. Or waylay a crisis situation to see if it blows over. In THOSE cases a patient advocate may need to be involved. If you are being treated oddly, it is likely he is doing the same for others. Getting an advocate involved will make sure this reduces the chance this will continue happening to others if it is so. Depending on doctor-patient dynamics after the fact, you may want to stay or get the hell out of there. Either, I have found, is equally as likely to happen.
He should never have gone to medical school: The general public doesn't have a deep, intimate understanding of chemistry, biology, physiology, disease process, pharmacology/psychopharmacology (yes, different), nutrition, etc. But they shouldn't need to in observation of just really horrible doctors. For instance, recently a friend of mine who is a younger adult was told that a blood pressure of systolic in the 80's is normal FOR CHILDREN and she was roughly the size of a child, so it shouldn't be a big surprise or any type of issue. YOUNG children (12 and under) will have a lower blood pressure because they not only tend to move around more, they also have an immature circulatory system. The blood vessles leading from the heart have not achieved a totally closed passageway, which will automatically give a systolic pressure that is lower in that of an adult -- irregardless of body weight. Normal adult blood pressure should be ideally in the lower 100's for the systolic, and even systolic in the 90's while at total rest is acceptable. But if an adult has been at least walking around and doing things, the systolic pressure should NOT be in the 80's. However, the "child size" comment should have rang alarm bells if the patient is an adult. Some of us are thinner than others, but there is a difference between thinness and emaciation.
***DISCLAIMER*** I AM AN ACTIVE MEMBER IN PATIENT ADVOCACY AT THE STATE LEVEL FROM A PATIENT'S POINT OF VIEW. I AM AN INFORMED PATIENT, WITH A DEEP UNDERSTANDING OF ILLNESS PROCESSES OF SEVERAL KINDS, SEVERAL TYPES OF SCIENCE, AND HOW THE HUMAN BODY WORKS. I AM IN NO WAY SHAPE OR FORM A DOCTOR OR AN OTHERWISE MEDICAL PROFESSIONAL. ALL STATEMENTS MADE ON THIS BLOG ARE SUGGESTIONS BASED ON PERSONAL EXPERIENCE AND OPINIONS BASED UPON THAT. THIS IS NOT A SUBSTITUTE FOR THE EVALUATION AND CARE OF A DOCTOR OR OTHER MEDICAL PROFESSIONAL. IF YOU ARE HAVING A MEDICAL EMERGENCY DO NOT COMMENT OR E-MAIL ME. CALL 911 OR FIND A FRIEND WHO CAN TRANSPORT YOU TO THE NEAREST LOCAL EMERGENCY ROOM.