I want to help you all understand what its like to visit a doctor when you have a rare disease. First, I had to get a cup of coffee in me while I thought about what I would say. Like I said before, I am new to this.
All of my friends and family know that I see a neurosurgeon all the way in Maryland to treat my condition. Many of you may not understand why I travel that far. You see, he is the FIRST that I've met who "gets it". He truly understands Ehlers-Danlos, chiari, cervical instability and the multitude of other ailments. He is a diamond in a gravel pit.
When we started this journey, we saw a lot of doctor's who discredited any suggestion that I made. But, I was just learning about connective tissue disease and really didn't have a foot to stand on. It all started with Ashley and her many trips to the orthopedist for her constant dislocations. Each time they just said that they didn't know what was wrong or why she kept stretching and tearing these ligaments. They would put her back in braces, back on crutches and send us on. Until the day we say the "new" doctor. I don't even remember his name. I should find out. He was new at the practice, though. For this visit, I had no babysitter, so I brought all of my kids. He was looking at Ashley's knees, then looked at my family of tall, thin children and asked if we had Marfans. I had only heard of Marfans, really knew nothing about it. He said that he really believed that may be our problem and for me to find out. And so began the journey.
Where does a parent start with that? At home with their primary physician. We saw an awesome Nurse Practitioner named Jodi (and, I ALWAYS recommend the NPs over MDs but I am biased). She knew a bit about Marfans. She began looking at my kids and finding things that I just hadn't noticed, as a mother. Yes, they were a little taller than average. Yes, their arm span was longer than their height. Yes, they all had a high palette, crowded teeth, history of speech problems. They had long legs, very long fingers. Yes, they were all double jointed. Three of them had scoliosis to varying degrees. A couple of them had irregular heart beats. The were things we hadn't picked up or put together. Until now. They met enough criteria (Marfan's symptoms) to consider more testing. So, they were scheduled to see a pediatric cardiologist and a geneticist at UK medical center.
This is where the fun starts. The day rolled around and we went to see the cardiologist. Let me say right from the start that he was a jerk. He wanted to know why we even thought we had Marfans. I explained their story, their symptoms. He said nope, he knows they don't have it. They are fine, just a little tall. But, he'll do an echo on each one just in case. So, one by one I went in with them while they had an echo. After, he tells me that they all look good. The twins had a slightly larger than normal aortic root but that he thought it was actually normal for their age and that the problem was they were too thin, which distorted the percentile. Otherwise, all fine. No abnormalities. We don't have Marfans. Silly idea. Go home.
Next was the geneticist. Because I brought 4 kids to be examined, they split them into two rooms with two physicians. I was with the girls. The lady, who I hear has moved on to practice elsewhere, thankfully, looked them over. Again, I was asked why are we there. Again, I go through the story. She checks them out, says sure they are a little hyper mobile, but they are fine. That I was wrong, their measurements are fine. This is when I began to learn to stand up for us. I told her that no, they are not fine. I measured them myself. I told her to not "eyeball" it and actually measure. So she did. And had to admit that I was right. They are off. So she looks them over again. Finally, after several tests, she tells us that they do not have Marfans. She says my oldest has Ehlers-Danlos. She said she had some subtype, she wasn't sure which, and not to worry about it. It was no big deal, there was nothing we could do. Then, she says that the oldest was gaining a little weight and she just needed to exercise and monitor that. And she sent us home.
It was almost a year before I figured out that Cincinnati Children's Hospital has a connective tissue clinic and a specialist in EDS. During that year, I kept pushing for answers but no one had any. So, I took Ashley to Cincy. There, we met an awesome doctor who knew exactly what was going on. He spent an hour with her, checking her, asking questions. And that day we found out that she (and probably myself as well) had EDS-hyper mobility type. We've saw him a couple of times since, over the last couple of years. He is still just as great.
Now, this is just the beginning of our story. Since then, we have saw many doctor's and been in the ER a few times. Each time, I have to explain that we have Ehlers-Danlos and give a quick, summarized lesson about it and what it does. I have to explain the connection to whatever we are having treated. I have to tell them what to look for. And then, most of the time, I am discredited. They say "no, EDS makes you hyper mobile. It doesn't cause pain. It doesn't cause GI issues. It doesn't affect the heart. It doesn't cause your meds to work wrong.". Because I am a nurse and have had a few years now to learn about this, I can argue my case. It doesn't usually matter, though. I only have RN after my name. They have MD. So, they are omniscient, all knowing. They are wrong, though. I have learned, for most things, to seek out the best physicians, those most familiar with EDS. Usually we accomplish this through support groups, facebook groups and EDS friends that I've made a long the way. If a doctor doesn't factor EDS into our situation, I move on. EDS factors into everything, now. No matter what is wrong. Many patients spend years and years fighting physicians, trying to find out what is wrong with them. They spend years being given wrong diagnosis, psychiatric diagnosis, called Munchhausen mother's or patients. These are strong people who keep fighting. We were fortunate that our journey took years, but not nearly as many years as theirs.
I usually only take my family to the best, now. It means we travel. But, it means we are cared for properly. And, that is how I found my physician in Maryland. I only saw one quack neurosurgeon before him. A man in Cincinnati. A real idiot. Then I found Dr. Henderson. He has made it his life work to understand us, to understand EDS and the way it affects our bodies. The man is a real genius. Truly, I've never met anyone like him. I am both intimidated and fascinated by him. We really love him. I have learned so much from him about myself, about the way my body works. Someday, I'll talk my daughter into seeing him. I've joked before that the man can sniff the air around us and tell what's going on in our bodies. Piece by piece, he has put me back together. And I never knew I was so broken until he fixed me and the pain was suddenly gone in whatever part of my body. Some of the things we have, such as chiari, can be life threatening. But, I have faith that he won't let me die. He'll get to it, he'll fix it when it is time.
Over the years, I've saw a lot of doctors who said that I was wrong, either about myself or my children. But, I am not. I refuse to take their answer. Don't assume that you have to take the diagnosis that they give you. You don't. Argue to have that removed from your record. Fire them. They may be MDs, they may be more wealthy or more educated. But, guess what? You are still paying them. They are hired by us. They can be fired by us. When you know they are wrong, move on to the next. When the money runs out, fundraise. Beg. Swallow your pride. Because you deserve to live.
I'll wrap up this book chapter with that, because today I can't see. Everything that I type is doubled. That is just a mild part of what I go through. But, my eye doctor says I am fine. ;)
If you can, click the link over there to our fundraiser and help us. Or share it on whatever social media you use. I won't stop fighting to live and to fix my family as they need it. But, it does cost money. A lot of money. Lets just say, I could have nearly paid off my mortgage by now.
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