Misdiagnosis and lack knowledge by medical community

Achalasia
#1

My daughter suffered from achalasia for more than a year before she was diagnosed.

She was losing weight, continuous vomiting, unable to eat most of the time, coughing, chest pain etc. she was seen by gp’s, pediatric specialists, gastro specialists etc without them being able to diagnose achalasia.

Eventually she was taken to hospital and was given a many tests including xrays, barium swallows, blood tests etc. She was being seen by senior dietitians, gastro specialists including professors and even psycho- vultures (psychologists). they were even trying to make us believe that our daughter had anorexia nervosa. one of the nurse even blamed me for causing the problem which was one of the lowest points of my life.

Eventually she had a manometry test which quickly pointed out the fact that she had achalasia. she had a hellers myotomy with fundulication which quickly resolved the problem for a period of time although she still has spasming and is looking at having botox injections to help. the psycho -vultures and dietitians quickly disappeared when she was correctly diagnosed. looking back on the last couple of years i have wondered why the medical professionals etc. had such trouble finding the diagnosis, with some even not knowing what the illness was. do other people have the same problem and do many people get misdiagnosed?

#2

Hello, koppa63.

I am sorry your daughter has achalasia, but I am glad you have found us. Achalasia is rare and most doctors do not know about it. That is common with disorders that are this rare, and achalasia is even rarer in children. No doctor knows everything, there is just too much to know. Most doctors will never have a patient with achalasia. This is true even for GIs who are the ones you would most expect to know and do the right tests before jumping into a wrong diagnosis. Interestingly, heart specialists may be more likely to know about it because they have to screen out achalasia patients with spasms at the ER who think they have a heart attack. 

The first thing my primary doc told me about achalasia was that he knew nothing about it. He might have known a little about it before I asked him if another doctor had sent him a report, but that is another story. 

What happened to your daughter happens a lot. Some patients go for years with a wrong diagnosis. Often, they are told, in one way or another, that it is in their heads. The lucky ones among them are told it is GERD, which at least is not in their heads.

Even after a correct diagnosis family, friends and coworkers often treat the patient as if the problem is in the head. They seem to think that if the patient just tried harder, took smaller bites, chewed more, or something along those lines, there would not be a problem and the patient could cope with it.

I am glad your daughter has you to stick up for her.

notan

 

#3

I have had this problem too. About five years ago when I started having spasms I was the first to think I was crazy. I had never heard of A. (and didn’t until this year). So for a while I didn’t tell any one then I started getting scarred and went to the E.R. the staff treated my like I was crazy and sent me home. Then one night I was trying to drink a glass of water but couldn’t get it down. My husband called an ambulance, I was taken to the hospital and admitted. It was then that I met my GI doc he did an endo which didn’t shed any light on my condition but on a hunch he did a dilitation. For over two years that was all that was needed…until last winter when things slowly started to get worse. I made an appointment with the Dr. another endo and dilitation was done. I thought that like the last one that’s all that was needed. At this time I still didn’t know about A. However one week after the dilitation I was not able to eat much. That’s when I started doing my own research. My GI called in a neurologist and because I was choking in my sleep they admitted me to the hospital the neuro did a bunch of test, called in an ENT that did nothing more than look down my nose with some kind of torture device, and my GI also started doing more aggressive testing.

All the test from the Neuro showed nothing (of course) So Neuro doc came into my hospital room one morning (the night before I had been vomiting all night) and proceeded to ask me if I was under alot of stress and some other questions that lead to him suggesting that it was time to call in a psych eval. He also wanted to discharge me (I guess he was afraid of the insurance co. coming down on him ) However my GI doc had not finished his testing. And lo and behold that last test was the one that showed I was not crazy. My GI has tried different meds but none have worked. So now he is sending me to Shands. So in answer to your question, yes, I’ve dealt with the medical community and continue to do so. My best suggestion: Continue to do your own research, Be assertive, take someone you love and trust with you to all appointment (as a second pair of ears and support) and document everything including phone conversations. My prayers are with you and your daughter.

Blessed Be,
Janine

#4

When I began exhibiting symptoms of Achalasia, I went to Urgent Care where I was diagnosed with GERD. After consulting with my primary physician, she referred me to a GI. On our first consult, he told me he thought I had achalasia; however, he wanted to run tests before he made the diagnosis to be sure. It took him six months and various tests to prove what he had told me initially. I had to literally break into tears at my last consult after he said he still wanted to run MORE tests.

After that, he scheduled a procedure to help my esophagus relax (botox injection). It definitely helped and after 3 weeks was able to swallow food. I don’t eat much, but at least I am able to eat and drink :slight_smile: and that makes all the difference in the world! At least now I don’t want to crawl into a ball and die …

#5

koppa63,

I feel your daughter’s pain. When I was 11 I started getting symptoms of achalasia. It took me over a year to finally get diagnosed and get the balloon dilation so I could finally get food in my stomach. My dad kept me alive with protein shakes that, although liquid, were even hard to get down. I am now 31 years old and am doing fine (I’m even a bit overweight!). I’ll always have achalasia, but drinking fluids helps greatly when I eat.

I am heartbroken for you because I suffered greatly waiting for a diagnosis. My doctor tried to tell my parents that I had control issues and was doing this for attention and had an eating disorder. I have a twin sister and I weighed 20 pounds less than her and was 2 inches shorter. I’m not sure why I developed this and my twin didn’t. But when I could eat again I rebounded quickly.

Best of luck. I absolutely know what your daughter went through; I only hope that my pediatric gastroenterologist was more effective and understanding with his patients after me. Hugs, Lisa