Tuesday, April 19, 2011

A new Diagnosis.. Ehlers-Danlose Syndrome Type 3

I went to the appointment yesterday expecting to get answers. I wanted to know why my children felt and acted like they did. It wasn't normal kid behavior. It wasn't just their age. They weren't just lazy. I knew something was wrong. I could see it in their faces. The dark circles under their eyes, the lack of energy, the bruises that came out of nowhere, the clumsiness, and the un-talked about diarrhea and constipation. All of these things, I was being told were ok, normal, expected. But I knew something was wrong. Nobody wanted to help me figure it out. They weren't worried because they hadn't had any organ failure or other extreme health issues. I was worried because I could tell that what we all had would turn into what my mom and I have... Pain. And not just pain, but PAIN. CONSTANT. All the time pain. When we move, when we don't move, when we breath, when we hold our breath. It is a living HELL being in pain all the time, being tired all the time, feeling so weak in my muscles. The last thing I want for my children is for them to feel this way. So, I started seeing doctors. I got my stomach tested for sugar intolerances and found out I had fructose intolerance. So I figured that maybe my kids had it too and I wanted to get them tested. The pediatric gastroenterologist told me they couldn't possibly have it. Guess what? They all had it too. SO, if we all had it maybe it was genetic. They referred my kids to a metabolic geneticist. We had that appointment yesterday. I wanted to test for hereditary fructose intolerance. It seemed logical. After 5 minutes with this doctor I felt like someone believed me.

She said she would draw blood and do all the tests I wanted to make sure that all their organs are fine. We have to wait for the results but in the meantime she wanted to ask me some questions. As we were going through the list of questions, she noticed I had burned my hand. She asked about it and I told her how clumsy I was and how injured I can get. She immediately asked to see my hands..... then she bent my thumb back until it touched my arm. Try it... I will wait.... See if you can do it too..... Can you? You are not supposed to able to. If you can you are hypermobile. Joints aren't supposed to be that flexible I guess. She had me bend some other things too, fingers, arms, knees, then she had me bend over and place both hands flat on the floor while keeping my knees straight. I thought it was normal to be able to do that. But no. It is not. Well by now I am feeling pretty abnormal. You know, this was supposed to the kids' appointment.

She looks me in the eye and says..... "You have Ehlers-Danlose Syndrome..... type 3. That is the Hypermobility one."

Ummmm. I was not prepared. That wasn't on my list of possibilities and I felt caught off guard.

Then she says, "I am diagnosing your son with it too. We can't officially diagnose your daughters until they are 5 years old so I will see you back on their 5th birthdays to confirm they all have it officially." So all my kids have it too. She also said that based on my family history, she can guarantee me that my mother and my mother's other children have it as well.

So if you are related to me through my mother's side of the family....... you might want to try these tests. This condition is related to other health issues as well. Impaired healing, GI issues, chronic fatigue and chronic pain.

Please read the links posted in the reference section.

There is no cure. Only management. We ave to protect ourselves from serious injury while trying to live normal lives. Healing can take longer than normal. There are also GI issues like chronic constipation and chronic diarrhea that can injure our insides. I will be getting with a dietitian to figure out a safe way to include fiber in our fructose free diet.

On one hand, I am happy to have an answer. I have lived my whole life wondering "why me?" Now I know. I can not make the proper connective tissue. My "recipe" is all wrong. I can tell my kids why they feel the way they do. I can sympathize with them and help them find ways to cope.
On the other hand, I am very sad. I had set out to find a reason so that I can prevent my children from having chronic pain. I now know that I might not be able to prevent anything. They will develop it if that is how their body is going to express that genetic defect. All I can do is try to keep them from injuring themselves in a way that will exacerbate their condition. That makes me feel helpless. I wanted to save them from my fate.

1 comment:

  1. I was just recently diagnosed with this. I have two children. Both girls. They are too young to tested but I think my youngest will have it too. She is so young but already has the dark circles under her eyes all the time. My oldest seems fine though. It breaks my heart that I can't do all the things I want to with her because of my condition. It's not fair. And I'm trying to learn to cope.. I just don't know how.. I don't know if you have frequent dislocations, but I do. My fingers dislocate a million times a day. I found these ring splints that will help prevent over extension in joints. If you are interested, you can google "eds ring splints" and there will be an etsy page. The women that makes them is awesome! She has been a huge help in getting the right pieces and trying to work with my income and everything. Anyway.. Good luck to you and your children! I am soo sorry they will end up in the chronic constant pain you and I feel everyday all day long... :(