A personal story helps other people who are dealing with similar issues. Learning from each other is one of our key objectives. While our organisation is already 25 years young the babies then are adults now having gained a lot of knowledge and experience they are sharing with parents with young children for instance.
Katie was diagnosed with CMTC when she was 5 months old and now she is 29 years old. She has lived with markings down the right side of her body and the left side of her face, neck, and skull all of her life. Katie is a true example how a patient with a rare disease could deal with this also from a psychological point of view. Katie is also one of our Patient Advocates in Canada.
My name is Katie and I was diagnosed with CMTC when I was 5 months old. I am now 28 years old (2021) and have lived with markings down the right side of my body and the left side of my face, neck, and skull all of my life.
I have had a few complications from my CMTC. The entire right side of my body (affected side) is smaller in both bone length and muscle girth. In my right arm and hand, I deal with some swelling that can be exacerbated by the heat. All of my marks are temperature affected, they turn a lovely purple in the cold and a very vibrant red in the heat. I also have an interesting effect where I did not develop natural fat stores the same way as other people, I have since had breast reconstruction surgery, often used for mastectomy patients, to build a breast on the affected side of my body.
Additionally, I have a fine motor disability in my affected and dominant hand which can make things like writing, typing, and using day-to-day items painful. Through work with teachers and disability departments, I have had very few challenges in schools getting the accommodations I need such as speech-to-text software, additional time on exams and other tools and technology for this issue.
One ongoing treatment is the laser surgery that I receive on my face. When I was 12 years old (2005), it was recommended that I start using laser surgery to remove the marks on my face that were near my eyes. This is a procedure I still receive every few months in 2021. Though this has been a long journey, the marks on my face have dramatically faded and with the surgery, my ophthalmologist feels my risk for glaucoma has decreased.
I have been very lucky to be around a supportive environment growing up. My parents encouraged me to choose my own clothes from a young age which helped foster a sense of normality with my marks. I spent some years explaining to children my age that I had a birthmark, and as I got older explaining what a vascular malformation was, but my confidence in my marks and skin helped me in using those moments as teaching opportunities and I rarely dealt with teasing after I shared my story. This was helped by attending small schools where everyone knew each other so I rarely had to repeat my story to classmates over and over.
However, I have spent many years working with many doctors that have never heard of CMTC and struggle to work with a teenage girl as an equal to have a conversation about a matter they may not be knowledgeable about. This was probably one of my biggest challenges from 15-22 getting doctors to listen to me about my condition when they had not heard of it, especially when the first thought was often an allergic reaction or burn. As I have aged, I have gained confidence and skill in advocating for myself when working with doctors who don’t know my condition, but I also now have an amazing team working with me. I often find when I am being referred to a new doctor, they work to find someone willing to learn, do research, and listen to a patient when needed.
Overall, though CMTC has presented some challenges in my life I was still able to participate in all the activities, sports and recreational passions I desired. I played soccer, basketball, rugby, and volleyball, rowed and swam throughout my life. I also enjoyed school, and have been highly involved in school government, music programs, and peer support programming through my education. I moved across the country for my post-secondary building another network of friends and colleagues and joined more volunteer and athletic opportunities. Though CMTC has been a part of my life I have never felt like it held me back from pursuing my passions.
CMTC-OVM is a worldwide non-profit patient organization that aims to improve the quality of life of people suffering from vascular abnormalities (blood vessel abnormalities), such as CMTC (‘Van Lohuizen syndrome’), and stimulate scientific research on these disorders.