Connective Tissue Disorder Diagnosis

 

All of my life I've had a plethora of weird health problems. After I had two children, my health started to really go down hill. I went to see all sorts of health and medical experts, with the first twenty or so offering no real diagnosis or solutions. Finally when I was about 38, I was diagnosed with an incurable, genetic connective tissue disorder called Ehlers-Danlos syndrome.

I wasn't sure if I should be glad to finally have a diagnosis that seemed to really fit my symptoms, or upset that I had something supposedly present since birth and yet missed by doctor after doctor for almost four decades. I looked up EDS on the Internet when I got home from receiving the EDS diagnosis, and was shocked to find that my symptoms could have made me the Ehlers-Danlos poster girl. Here all this information about my health problems was just a few keystrokes away for all of these years, and yet until the diagnosis by a leading rhuematologist in my area, no other doctor before had ever accurately matched my symptoms to any specific disorder.

I had a sunken chest (pectus excavatum) when I was younger, so before I had kids I had a complete evaluation at a genetics clinic at a local children's hospital. There I was diagnosed with a disorder called Mitral Valve Prolapse syndrome, but the doctor and nurse in the clinic had made it seem like it was a relatively trivial health issue, despite the fact that it had been quite traumatic for me until I had it surgically corrected in my teens. They both told me that the sunken chest could easily be corrected through surgery, so I shouldn't worry about passing it on to any future offspring.

I know now that the PE surgery can be pretty risky. Plus, it isn't always successful and some kids have even died from the surgery itself. In general almost everything they told me about my condition and the ways it could be treated was either incorrect or outdated.

I do wonder how many other prospective parents were given erroneous information from the same clinic. It's one thing to get bad advice from a professional like an accountant and end up having to pay more taxes than you thought you should. However, it's quite another order of magnitude to get bad and outdated advice by people in the medical field claiming to be experts and giving genetic exams, where the results can have life altering consequences. I did have two children after the relatively clean bill of health given to me from the genetic clinic staff, and consequently both children have also been diagnosed with EDS, too.

Think of the gene as a winding road and think of the environmental agent as driving 80 miles an hour. You have to put both together to get a bad outcome. - John Harris, Director, California Birth Defects Monitoring Program, as quoted in the Contra Costa Times

Fortunately for us, we have found many environmental factors to help us all deal with the Ehlers-Danlos syndrome . Between my children and I, we continually keep having lots of unusual health problems crop up, but somehow we always seem to solve most of them through the right diet or exercise treatment. I've learned that genes may make you predisposed to certain health conditions, but I suspect that there are few, if any health disorders caused 100% by genes alone.

 

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