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Wednesday, July 25, 2012

Klippel-Trenaunay

This is an edited post from my other blog, Planet Crazy. Since the focus of this blog is on KTS and all the other fun little medical things that may or may not come along with it, I figured it should have a cosy home here as well. Again...I'm not a doctor because, well, cutting up any type of animal makes me queasy. So please go to your own health care professional regarding questions about your own health.

I'm hoping to give a basic overview of what Klippel-Trenaunay looks like in Meat's case and will write more in the future about some of the problems we've had living with K-T, some ways we've adapted our lives and supplements he takes. Currently, the biggest problem facing those with K-T is ignorance. Unless you've heard of Martin vs. The PGA or read Carla Sosenko's article about it, likely you've never heard of Klippel-Trenaunay either. Unlike, well, diabetes, hyperlipidemia, rheumatoid arthritis, even bipolar. Which is fine. Except that doctors know about as much as the general public. Not a good thing, nor very helpful when faced with a rare and potentially life-threatening condition! Only with awareness, will we have a chance to get proper care for our loved ones.

The Basics

Meat has Klippel-Trenaunay Syndrome, also known as Osteo-angiohypertrophy. If you're interested in reading about it from a clinical point of view, here is as good a start as any. When he was diagnosed a few years ago (most K-T diagnoses are given at birth or early childhood) Meat's doctor wrote down the name of the condition and told him to look it up on the internet - then he would have about the same amount of knowledge regarding it as the doctor did. Yes, it's that unusual a condition. Most doctors we have spoken with have never seen it before and have told us that they have no idea what they are dealing with or how to treat it. Even doctors who claim to have knowledge about K-T or have had experience don't know how to treat it. In our case, we've had more doctors who have totally been out of the ballpark on diagnosing complaints associated with K-T than we've had doctors who knew what to do. Meat appeared asymptomatic as a child so his doctors simply diagnosed him as having a "birthmark". When he went into the military, many of the hallmarks of Klippel-Trenaunay became evident although doctors still did not diagnose him. In fact, a VA doctor had written "Klippel-Trenaunay?" in his records but no VA doctor ever followed up on it. It was actually my doctor (a DO) that brought up the subject of Meat's condition during one of my appointments. Without his leads, we might still not know what we've been dealing with.

Appearances Aren't Everything

I know I'm biased and I adore my husband so it's only natural for me to say that he's a unique fella and a one-of-a-kind model. But I'm talking about his spirit when I say that. Most people only see the outside of Meat, and many of them have a lot of questions. It's an undeniable fact that Meat is a mutant. At first glance he may look pretty human, but there's the large matter of his birthmark...so large that it takes up (more or less) the entire right side of his body. Those who have no experience with birthmarks have asked if he was burned, injured, or had a rash. His doctor refers to it as an "arterio-venous malformation". It tends to be red or pink and will become more red when he's warm and purple when he's cold. I really don't like it when friends or acquaintances ask me about his birthmark instead of asking Meat outright. I presume they are trying to be delicate but it ends up feeling like gossip. I think like anything else, people with K-T have days that they feel more approachable than others. But overall, Meat doesn't mind it, every question is an opportunity to raise awareness!

The skin AVM/birthmark requires a little care, he's susceptible to eczema and cellulitis. He's been prescribed lanolin and steroid creams, originally his doctor told him to just schmear a bunch of vegetable shortening on it to keep it supple. We use coconut oil as it seems to work the best and smells lovely. He has a vaso-constrictor spasm problem....which is really saying he has a similar condition to Reynaud's Disease but not quite. During the winter we make sure his hand and foot are covered well because he loses sensation in his fingers and toes. The last two fingers don't recover well from cold. Oh, and how could I almost forget about the Bleeding Issue: where his skin AVM covers is much more likely to bleed from any small scratch than his "normal" side. If he nicks his hand doing any everyday job, he bleeds. Sometimes a lot. My son's dog jumped up for attention and his claw grazed Meat's side. It bled profusely. Excessive bleeding can be a big problem for K-T folks, Meat's been told to be vigilant because while not probable, it is possible to exsanguinate. Say, in his sleep. Not probable though...

'Those are really groovy shoes...'

After the birthmark, strangers are likely to comment on Meat's groovy footwear. I will be the first to cringe at his love for '70s American music and his past brushes with heavy metal but believe me when I tell you his Kiss Boots are not an expression of his Inner Ace. When he wears his boots, he is 183 cm* which is his height as measured by his right leg. Without his boots, he's 177 cm** Because his care for his growing right leg was sporadic and mostly ignored during his military service, he also has scoliosis, kyphosis and arthritis brought about by his body attempting to compensate for the difference in lengths. His right leg is still growing, as is his right arm. Both his right arm and leg are also perceptibly larger in circumference than the left. His trunk is affected and is larger than the other side. If he were a kid, he might have surgery or some other corrective measure for it. He's an adult and his arm and leg are still growing. He keeps getting higher lifts. I don't know how long this will be practical.

There's quite a bit of pain associated with this, he has osteo-arthritis in his hip and knee. His back hurts. He's been diagnosed with osteopenia. Due to the excessive growing of his right leg, it is brittle, weak and his ankle twists easily. He wears fitted casts on both legs. Over his compression stockings to keep the swelling down and protect his numerous varicose veins on his right foot and leg.

*that's 6' for all you Americans, Liberians and Burmese who may not speak metric
**and that's 5'10"

The Human Time Bomb

To round out the joy, Meat also has a spinal AVM, it's located between T-4 and T-6. We know very little about it overall, after it was initially diagnosed, no VA doctor has followed up on it despite our repeated asking. Each doctor refers us to another doctor before 'anything can be done'. I kind of think it's like what we deal with when we save up the money to see outside doctors: they really have no idea what they're even looking at. Steve Slocum of Spinal AVM Information compares having an AVM to having a time bomb in your body. It's an excellent analogy. We're hoping that the placement of his AVM would mean that it's low enough to not affect his brain if it bleeds. But it could result in paralysis. There have been some symptoms and lately there seem to be more of them: headaches, back pain, bathroom issues, pain, numbness and tingling in an arm, visual disturbances. The most frustrating thing about this is not having any doctors take us seriously and not having the money or insurance to go out of state. Aside from the small fact that many of the treatment options leave AVM sufferers as bad or worse off than before treatment. But the risks without treatment...it's a scary place to be.

Every time I get my hopes up, when we scrape together enough money to see a doctor or write to an out-of-state doctor or hospital in hopes of guidance, it results in a dead end. But it's important to not give up, to keep asking questions and to do what we can do to handle the condition on our own in the meantime.

Awareness is the Key

To complicate matters more, every case of Klippel-Trenaunay is unique. Some K-T folks are impossible to miss while others blend easily into the crowd. This is why awareness is so important. After all, if few doctors even have a clue how to manage this condition, how can family, friends or the public help? For starters, we can talk.
Tell your stories, tell your problems, fears, tell about the mistakes and about what works.

Learn everything you can - learn how the human body works, read research papers, connect with other K-T'ers and their families. Be the pre-eminent lay person in your area on Klippel-Trenaunay. If you have a child with K-T, don't let fear keep helpful information from him. He already knows he has something going on with his body, help him to positively deal with it rather than fear and feel like a freak.

Be an advocate and if you have a child with K-T, give her the information she needs to be her own advocate. Educate yourself. Educate your family. No matter who you are in the K-T picture, having as much information as possible will allow you to confidently speak up to doctors, ask questions and seek the best treatment possible. It is infinitely better to be an advocate than to be a victim. Speaking up can be the difference between getting treatment and getting blown off. As little progress as we feel we've made, it has been our perseverance and unwillingness to have doctors shrug that has gotten us this far. There's a long way to go but we have so much more now than we did at the initial diagnosis.

Take pride in who you are. If you have K-T, don't hide, don't be ashamed. You are magnificent, you are much more than 'just' a K-T'er. Don't let others' reactions to your K-T stop you from being fully you. You are not a second-class citizen just because you are different! If you have a child with K-T: Your child is amazing and trying to make him 'normal' will only lead to frustration for you both. If he looks unique, feels unique and/or has a unique way of living (medications, medical treatments, wheelchair/cane) raise him to be proud of who he is rather than having him compare himself with kids who don't have a chronic condition. Truly living is so much more different than what we often think it is. Help him to embrace life and truly live and enjoy it.

It's frightening to receive the diagnosis of Klippel-Trenaunay. If you allow it, it's the opportunity to open so many doors and to become a greater person than you ever thought you could be. You can be more learned, open-minded, thoughtful, empowered. Don't give up, don't stop seeking and never be ashamed.

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