The Things I Deal With

A good friend (this one’s for you Deb!) recently pointed out that it’s been awhile (and probably on an older blog) since I really explained what’s wrong with my health. So, this is going to be a fairly lengthy explanation of what’s happening inside my body. (Note: I don’t get too detailed in this post, but if medical issues make you squeamish, you might want to avoid reading.)

I was born with 4 different genetic mutations.

  1. Brachydactyly type D … also known has hammerhead thumb … also known as clubbed thumb. Basically both thumbs are short and wide. To be honest, this doesn’t impact my life all that much other than longer “nails” look really weird, I can’t be part of your jamberry club, and I will never wear gels, acrylics, etc.
  2. Autosomal bilateral polydactyly. In non-scientific terms, I was born with six fingers on each hand and six toes on each foot. They dealt with the finger issues when I was born, but they decided to wait until I was 5 to do surgery on my feet. The biggest challenge I deal with ongoing due to this mutation is my very wide feet. The spot on my hand where the extra finger used to be is also very sensitive, and I have to be careful about getting it irritated.
  3. Patella alta. Very simply put, my knees are not shaped correctly and my knee cap has no place to call “home”. This causes two major problems that I’ve had to deal with since I was very young. A) Because my knee cap has no place to call “home” it likes to move around a lot, and some of the ways it moves and the places it likes to travel are not conducive to walking. I’ve actually had several doctors that have examined my knees tell me that they’re really not sure how I’ve been able to stay as ambulatory as I have over my life. B) All this movement causes pain in its own way and then its always severely worn down the cartlidge on the back of my knee cap which has led to severe arthritis in both knees.
  4. Ehlers-Danlos Syndrome Hypermobility Type III. This is the biggie and impacts my life in many, many ways. EDS is a genetic mutation that impacts how collagen is produced in my body. Why is that important? Collagen is the “building block” for almost everything in your body other than bones. Humans have collagen in their skin, muscles, tendons, organs, arteries, veins, tooth enamel, hair, fingernails, etc. There are different types of Ehlers-Danlos Syndrome that impact different “soft tissues”. I have what’s known as Hypermobility Type, which mostly impacts my ligaments, muscles, tendons and internal organs to various degrees. There are other types of Ehlers-Danlos Syndrome that impact the veins and arteries to a larger degree. It’s also somewhat unclear why it affects some joins in some people and other joints in other people. For example, most of my problems — even since I was very little — are in my low back, hips, knees and ankles. My shoulders, wrists and hands have always been relatively “stable”. Other people I know have really bad hypermobility in their fingers, wrists and shoulders, but have never had an ankle roll or a knee dislocation.

I figured I’d spend the rest of this post in an FAQ style format.

Why can’t you just take a collagen supplement? I see ads for them all the time, and they helped my grandma when her knees were bad.” 

Collagen supplements are great, and its awesome that so many people use them and get relief from them. The basic science behind collagen supplements is that as we get older our body stops producing collagen in the same ways it did when we were younger and some people need a boost of collagen via supplements to keep things moving well. Ehlers causes a defect in the collagen within my body — not a lack of collagen If I were to take a collagen supplement, I would be producing more bad collagen — not fixing the already bad collagen.

What exactly is a “subluxation”? What’s the difference between a “subluxation” and a dislocation? 

A subluxation is a partial dislocation. I have had full dislocations where the joint completely separates and comes apart. Usually, when these happen especially in my ankles or knees, I fall down. With my last major ankle dislocation, I also broke part of one of the bones in my ankle. Dislocations are horribly traumatic. More often — sometimes more than once a day — I experience joint subluxations. My ankle, knee, wrist, shoulder, vertebrae in my low back or hip slides partially out of alignment and then usually slides right back into place. How much pain these cause varies greatly from a minor twinge to pain that has me immobilized. It also varies greatly how much each subluxation impacts my life. A minor subluxation of my hip can cause me days of numbness, pain, and other issues. A minor subluxation of my knee while sitting down is no big deal. A minor subluxation of my knee while walking can be a huge deal and will sometimes lead to a full dislocation.

You also have several other medical issues. What’s the deal with that? Are they related? 

In the same way that the defective collagen has caused problems with my knees, ankles, hips and other joints, it has also caused many internal problems. For example, collagen plays a critical role in how your intestines function. Because mine is faulty, my intestines don’t work so well. You have several really important muscles in your body that aid in digestion and the faulty collagen has weakened those. You also have quite a few ligaments, tendons and muscles that hold everything in place. Because the collagen doesn’t work correctly, those things are either not in the right place internally any longer or they are larger than they should be due something called “prolapse”. It’s not a fun place to be.

What’s the cure? When will you be fixed? 

Unfortunately, there is no cure for Ehlers-Danlos and most of the research money goes towards helping those with “vascular” type since that is life threatening. Also, while not technically classified as a degenerative disease since the collagen in my system technically isn’t getting worse over time, the impact of all those subluxations, dislocations and other nasty things going on internally are degenerative. A good case in point is my wrist. For many years, my wrist has been fine and not shown many signs of hypermobility. But, because I’ve fallen on it a handful of times, hyperextended it or done other nasty things to it, it now gives me lots of problems.

That’s the 1,000 word edition on what’s wrong with my body. If you have any questions about any of this, please feel free to add them in the comments and I would be happy to answer them. If you’re seeing this blog post due to a google search about Ehlers-Danlos and if you think you might have it, I would encourage you to find a reputable genetics clinic in your area and ask for a consult. Many doctors will go their entire career without ever seeing anyone that has been diagnosed with Ehlers-Danlos and will often miss what’s actually causing your symptoms. Don’t give up until you have the answers you need.

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