Klippel Trenaunay Weber Syndrome: My Story
My KTW Diagnosis
My mother noticed when I was born that something wasn't quite right. One of my hands appeared longer than the other and it looked red. She tried bringing it up to the doctors but they blew off her claims. She was a new mother of a premature infant, she was just looking for problems. They couldn't know how wrong they actually were. I was diagnosed at four years old because my mother wouldn't give up until someone figured out what was wrong. I was born with a rare, unexplainable syndrome called Klippel Trenaunay Weber Syndrome.
This picture is one that I took myself indicating the difference in the length of my hands. This measurement is taken by resting my elbows on the desk and placing my hands together. It is not falsified or edited in any way and can be found here
According to the Genetics Home Reference 1 in 100,000 people worldwide are affected with Klippel Trenaunay Webber Syndrome
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 United 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. When I was four years old, my mother took my sister and I over to England to visit family and got me in to see a specialist while we were there. It was at that appointment that my family was finally given an answer...I had KTW. When we got back to the U.S. 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.
Port Wine StainClick thumbnail to view full-size
Why I'm Lucky
Throughout the many years I was seen at Shriner's Hospital, I saw so 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 occurred 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. Although this issue can be quite painful, when I consider the problems of others, I know that 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 is so double-jointed that my fingers cannot lay straight off of a flat surface. Not only do they 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 it was safer for me 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 stopped being stubborn and 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 two weeks straight and all the doctor had to do was massage my knee to release that nerve. At least I know what to do now since that wasn't the last time it happened!
My being double-jointed may or may not be attributed to my disease, it is honestly unknown. It could be coincidental that I am severely double-jointed in the same hand that is affected by my disease or it could be because of it: no one really knows for sure. However, it is not a definitive indication of this disease. There are lots of people that are double-jointed for no reason at all.
Demonstrating my double-jointedness - Images may be disturbing to someClick thumbnail to view full-size
EEEWWWW THAT'S SO GROSS!!! Dude you have to see this!
So, what is your reaction to my hands?
Share your story
- KTS Stories
If you have your own Klippel Trenaunay Story to share, check out this blog. It is a blooming community of KTS sufferers where all stories are accepted.
All in All
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!
The continuation of my story
- Klippel Trenaunay Weber Syndrome: My Pregnancy
This lens is dedicated strictly to pregnancy with Klippel Trenaunay Weber Syndrome and it's complications. It is all tied together with my personal experience.