Step out side the Box

• By chiquitabrazil
• Posted February 7, 2009 at 12:46 pm
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It is an immense challenge for doctors to remember every single disease and all of the symptoms that go into these diseases. It is unjust of us to expect it of them. I have been through the hands of perhaps 50 - 60 doctors looking for the answers to my disease. I am a patient with systemic mastocytosis. I have no spots that clue the doctors. I went to GPs, and specialists in almost every field, however, the only time it was recognized is when I finally had to go to oncologists, for the symptoms to mastocytosis are almost identical to that of a rare tumor, the Carcinoid. The major symptoms the carcinoid give are called Carcinoid Syndrome and they are the same as Systemic Mastocytosis; flushing, abdominal pain, diarreia, adverse reactions to medications and contrast material, dyspnea, etc. These two diseases are so virtually identical that they are considered differencial diagnosis. The flush is the major key to both of them for very few other diseases create a flush, the next being the adverse reactions. Both diseases present a "crisis" situation; the carcinoid is called Carcinoid Crisis and it mimics anaphylaxis. Mastocytosis has anaphylaxis as a major symptom. Yet, to make things even more difficult, if Mastocytosis were to follow the rules of anaphylaxis and fainting, it would be nice and easy and the doctors could figure things out, but it doesn´t. Mastocytosis has a hypertensive variant form. The patient with this form will become hypertensive during an anaphylactic attack and can even faint without becoming hypotensive. This is unheard of by doctors! Fainting and Anaphylaxis ALWAYS accompany hypotension. It's the rule. However not with masto. These rare patients will become HYPERTENSIVE during a crisis or faint and the pressrue can go way up. Mine has hit the roof at 220/110 and 230/110, once after contrast injection and another time after just standing in line for about 5 minutes. This mimics the Carcinoid Crisis.

It has taken me a full investigation into the tumor to rule it out, but because of the hypertension, because my oncologist had never heard of a hypertensive variant, and because he'd never heard of the possibility of hypertension with anaphylaxis, he could not figure out what was wrong and I had to wander about looking for someone who could investigate my symptoms further. It was only after I found out that mastocytosis indeed had this rare form could I inform my oncologist and then he could get back into the ballgame and indicate doctors for me to see. Yet, even when I did find a doctor who knew mastocytosis, this doctor was astonished and disbelieving that mastocytosis indeed did have this rare form. My doctor only began to truly believe when my tests began coming in showing results and evidence of the disease. However, I went through so many doctors, some had never heard of the disease, but it was within their area, and others who did know of the disease, but just could not believe their own eyes when they saw it before them. I had some doctors telling me that it was highly improbable that I had masto because it was just too rare. And then, what were the likelyhood of having a rare form of a very rare disease?!

Masto is a disease that is covered by 5 specialites; heamatologists, oncologists, immunologists, rheumatologists and dermatologists. Yet due to the rarity of the disease, most doctors will never see a patient in their careers. It's just that rare. And when you put together all of the other very rare diseases, how can we be so unfair and lack compreehension expecting doctors identify what they are seeing? These people must walk about with so much information in their heads that it amazes me that they can remember their own birth dates and street addresses for they must keep in their memories the symptoms of major disease, medications and their uses and dosages, as well as side affects and interactions with other medications. They must remember treatments and tests and what they all mean and do to the patient and what is involved in them. They must be able to counsel and advise and understand..... And then, when they see you in their office, the patient expects that the doctor remembers no just his name, but also the history he/she has with consultations and events in the past as well! It's a great deal to have to carry around.

It would be extremely unjust to expect doctors to be able to identify our rare symptoms or pin down some of our not so rare symptoms on the first go. I live with chronic diarrhea. If I were to go to a gastro, trying to deal with this, the gastro is going to bring up only the major diseases and try to treat that first, for probably the doctor would not know that mastocytosis also has this problem, but what would be the likelihood of my being a masto patient? They would thing Irritable Bowel Syndrome first, or some other major disturbance. It would only be after continually returning to that doctor, and their trying various treatments before the doctor would finally get the hint that something very different was behind the symptom!

Even when you do finally find what the matter is, there is still a great deal of difficulty for us rare patients, for many of us must then teach our doctors how to treat us. I am the only masto patient in my town of 300,000 people. To the knowledge of my doctors, there has never been nor is there at this time any previous case of systemic masto! I am the ONLY patient with this disease. I have been having to gather information off of the internet, receiving it from the major researchers as well and sending it on to my different doctors. They are having to invest their extra time in order to learn about this very rare disease JUST FOR ME! They will probably never again see any other patient in their careers other than me!

All I can say is that I am so grateful that nobody has come up to me, expecting me to know about the quantam theory, how it works, all of the formulas involved in it, the practical aspects of it and what it all means, and try to do something with it! Just being able to recognize the fact that I have heard of the name of the theory is sufficient for me, for I'm not into physics.

Although it is an incredibly frustrating process for us patients who are trying to live with sometimes unbearable symptoms, we must be understanding and forgiving of our doctors for their not knowing about our very rare diseases. We also must be extremely grateful that when they do receive us into their care, that some of them are willing to spend their off time, studying and investigating in order to learn about it and how it affects us and how to treat us properly! These men and women are THE TRUE HEROES of society, for they spend their lives so that they can save ours!

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• By Jannie
• Posted February 7, 2009 at 3:01 pm
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Thank you for your reply. No I don't expect them to know all of the rares, but a least do some research and not just pass the buck as it being a mental thing....promoting awareness is good for a person and the medical field should do more research at places like NORD, NIH, Mayo Clinic and RSDSA and other places that have information. The medical field are not up on their game like they should be. Too many people comments sucuide because of the lack of knowledge from their medical person. Don't get me wrong their are some good Doctors and Nurses out there who are willing to take that extra step. It still should not take 30 suppose to be trained medical people to tell me what is wrong. All in the medical field are not, their for the same reason.

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• By Blblues_1
• Posted May 25, 2009 at 4:09 pm
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Jannie-
I have had many weird illnessnes that have popped up and the doctors have had no clue. I also have a rare blood disorder that for many years doctors would say "oh ya I know about that" I would laugh and roll my eyes at that. The ones who did know would give me a bit of information, even though I already knew it, just so I would believe them. I agree with both of you about the doctors. I think there are 2 things; YOU are your best advocate and doctors should listen to patients. So many times they don't. I had a cancerous tumor for about 5 yrs. I told EVERYONE and ANYONE. No one dismissed it they just didn't go any futher. One day I woke up and could not walk. I went to my obgyn as a last resort and he said he would do exploratory surgery on me to make sure everything was ok. This is the way it was found. I am never so THANKFUL for him. I tell him that every time I see him!!! He is one of those dr. that listens to his patients and knows who he can trust and who is a wacko! I do build repores with my Doctors so they know that I listen to my body and I have had to do so ALL my life do to my blood disease, nothing has ever came normal or easy.

Britinie

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