My life with Klippel Trenaunay Syndrome

My congenital condition is Klippel Trenaunay Syndrome (KTS), which affects my right leg, foot, and private area. When I was growing up, the doctors in Glasgow that I went to see called the condition an ‘abnormality of the blood vessels’ or ‘venus malformation’. As the condition is rare, affecting only one in 100,000 people worldwide, no one in the hospital field in Glasgow that I attended had seen anything like this, especially when I was a young child.

Klippel Trenaunay Syndrome is a rare congenital vascular disorder in which a limb may be affected by port wine stains, varicose veins, too much bone, and soft-tissue growth. The limb may be larger, longer, or warmer than normal.  Everyone with KTS suffers from their own kind of symptoms. Most people suffer with painful thrombosis, inflammation, muscle cramps, joint, and bone pain. I struggled with all these symptoms. The cause is unknown.

The beginning of my Klippel Trenaunay journey

A specialist told my mum when I was a baby that the ‘blue-black birthmark’ would disappear with time! This wasn’t the case and I never received my Klippel Trenaunay diagnosis until adulthood. Being the youngest of three children, I wasn’t wrapped in cotton wool and protected like I would have been if I was the firstborn or an only child. I wanted to be like my brothers and was very much a tomboy from an early age. When I could, I would be out playing on my skateboard, bike, and climbing garages. I was lucky that I was able to do these things at a young age. My condition got worse as I hit puberty and continued to cause problems from then onward. I would always wear thick black tights or trousers. I was lucky in the fact that I could wear trousers to school, so no one got to see how my leg looked. I had an operation on my foot at the age of 13. I attended Yorkhill Hospital in Glasgow. The consultant thought by injecting a solution into part of my foot, it might burst the veins. The veins on my foot are exceptionally prominent. If this had worked, he would have tried the same treatment on my leg. Unfortunately, the procedure did not work. The solution burned a hole in my foot. This took months and months to heal and has left me with an unsightly scar.  

I was referred by my doctor to see a consultant at Glasgow Royal Hospital aged 14. After X-rays were taken, I was informed that I had degeneration in my hip, knee, and femur in my Klippel Trenaunay leg. The consultant certainly didn’t have a warm manner, and I was told a matter of fact that I would end up in a wheelchair soon enough!  

Mental health

I was struggling more with my mental health around the age of 25.  I felt I needed to track down an orthopedic surgeon that would be willing to replace joints in my leg in the hope this would help my mobility. I didn’t discuss this decision with anyone, and I attended the hospital appointments alone. I had my hip replaced at 26. I had been told by the consultant when I was 14 that no one would operate on my leg as they wouldn’t be able to stop the bleeding. I had lived with this memory until meeting the consultant when I was 26 that agreed to replace my hip. I required eight blood transfusions over a two week hospital stay. I had my knee replaced aged 27 and required four blood transfusions.

Unfortunately, since having my hip replaced, I have had recurring bursitis. I was unaware this could happen from having a hip replacement. Initially, I thought my hip must be faulty as the pain was excruciating, and I was dragging my leg at times. I was far worse than I was before having it replaced. After numerous scans, including an MRI, I was informed it was bursitis. There isn’t anything that can be done. People couldn’t understand why I was in worse pain after having the hip replaced. Most people, including myself, thought the hip replacement would help alleviate the pain. Unfortunately, the pain is excruciating and limits my mobility further. As I have always hidden my condition, I think people just assumed I had a problem with my joints. After having the replacements, people thought I should be better! I have been taking Dihydrocodeine, Amitriptyline, and Paracetamol since having both replacements, and I have been taking anti-depressants for 10 years now. The bursitis is frequent and affects every part of my life. I lost a job that I enjoyed.

Surgery

I also had surgery eventually on my private area as it impacted profoundly on my mental health. This is one of the best things I did do. I wish that during my teenage years, I had been able to speak to a professional about this. It impacted how I felt as a woman. It was an excruciating process to help make my private area look better.  

Woman smiling, sitting on a chair

Diagnosis

Until my late 20s, I only knew my condition to be ‘an abnormality of the blood vessels’ or ‘Venus Malformation.’ A friend that is a physio said she had seen a patient with a condition very similar to mine, and it was Klippel Trenaunay Syndrome. I researched this condition and was shocked that this was, in fact, the condition I did have. To get this confirmed, I asked my general practitioner to refer me to a consultant at the Royal Free Hospital in London. The Consultant concluded this was, in fact, the health condition that I was born with. I was told at that appointment I should have been wearing high strength compression stockings all my life. Also, my D-dimer test was exceptionally high and that I should have been prescribed daily aspirin all my life. Since then, I have been taking 75mg of aspirin daily.

The diagnosis was a massive change in my life! I found a Klippel Trenaunay Support group online. I connected with lots of people all over the world with the condition. This was an amazing experience to connect with people that had been through similar pain. 

With age, I now appreciate I have been fortunate in things that I have achieved and overcome. I believe I am a stronger person because of what I have been through. I feel so lucky that I have got to this age. I am blessed with my partner, family, and friends. I hope I have many more years of being able to cope with my disability.  

To share your experiences of living with a rare condition please email [email protected].

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