Klippel Trenaunay Weber Syndrome: My Story

It was quite obvious at my birth that something wasn't right and the older I got, the more apparent it became. Not only did I have the size difference between my arms, but there was the large birthmark that covered the majority of my right hand. There was a third sign as well and that was varicose veins. I was such a tiny little baby, weighing in at only 4 lb. 1 oz. I was born exactly two months early, I was due on November 13 and born September 13. My parents were the only ones who noticed the problem and they couldn't get anyone else to recognize it for what it was. When we moved to the States, I was only 5 months old and my mother did everything she could to get a diagnosis. I saw so many doctors and was referred to more after every appointment. I was diagnosed at four years old and we had a meeting with a genetic counselor so they could explain everything. It was a scary time but I am very lucky. I only have a mild case of KTW, it could have been so much worse. These pictures show the port wine stain on my right hand.

Throughout the many years I was seen at Shriner's Hospital, I saw a great many people whose problems far outweighed my own. It was a very humbling experience to see people that have the same problem I do and cannot walk or have many more consequences associated with their disease. I was lucky in that the syndrome only affected my right arm. There are many people that have one leg 3 times larger than the other and port wine stains on their faces. In my case, people don't even realize that there is anything different about me until I point it out. The only medical consequences associated with my disease are arthritis and weakened joints. I was diagnosed with juvenille arthritis when I was 11 years old and have had difficulty with my joints since I was a young child. my joints give out on me easily and most people think I'm just clumsy. I experience more sprains than anyone else I know. The worst one occured when I went for a walk around the block. My ankle gave out on me and I fell on top of it. Thankfully nothing was broken, but I ended up on crutches for six weeks to give it a chance to heal. The damage to my tendons from the numerous sprains cannot be fixed and every additional sprain makes the problem worse. I was told by my doctor at that time that I will continue to sprain easily because my tendons have stretched like an overused rubberband over the years and they can no longer support my joint as they are supposed to. Considering the problems of others, I have had it very easy.

The most noticeable thing about my case is the degree to which I am double jointed. When I was about five years old, my younger sister got mad at me and tried to bend my pinkie finger backwards. Boy was she surprised at how far back it went. She screamed in fear and I laughed because it didn't even hurt. My right hand it so double-jointed that my fingers cannot lay straight off of a flat surface. Not only do the bend backwards to an alarming degree, but the individual joints can be bent. My left hand is also double-jointed, but not to the same degree as my right. After the sprained ankle that I mentioned above, I decided to walk the treadmill at my school. When I got off, my knee was purple and it hurt so badly that I could hardly put any pressure on it. When I finally went to the doctor two weeks later, I found out that my knees were double-jointed as well. Not only do my knees move in a forward-backward direction, they also move in a side-to-side motion. While I was walking on the treadmill, my knee moved sideways and I pinched a nerve. I was in pain for teo weeks straight and all the doctor had to do was massage my knee to release that nerve. At least I know now since that wasn't the last time it happened!

When it comes down to it, I was beyond lucky that I was not seriously affected with KTW. Several patients with abnormal growth will have to face the loss of the affected limb. I was told that if my legs became affected at any time (I was monitored until my growth plates disappeared) that I would have to face that loss as well. I am beyond grateful that I got off as easily as I did. I live a normal life with very little in the way of complications. The syndrome is very rare and happens sporadically. That means that it is not genetic and cannot be predicted. It is just one of those things that happen. I consider myself lucky that it happened to me because it is a part of what makes me who I am!