Hello everyone!! I am so excited to be able to chat with you all. My name is Maddie and I am a 21 year old from NJ/NY. I was diagnosed at birth with Cutis marmorata telangiectatica congenita (CMTC), a vascular birthmark that appears like purple splotching. I have a direct line running down the center of my body, with purple/white marks all on the right half of my body. From neck to foot, I am covered in spots. I think it looks like Cheetah skin, which is what me and my family have called it my entire life. I was the 12th case that the doctor at CHOP (Children’s Hospital of Philadelphia) had ever seen, and was used in multiple conferences for vascular abnormalities around the PA/NJ/NY area. I have struggled my entire life with this condition, being called a “burn victim” on the playground, having people point it out at sporting events, and at one point having CPS called on my parents because people thought they were bruises. This followed me into my teenage years, which was not usual as CMTC is usually only seen in children. My marks were still very much there, and I continue to get comments from people about how I look. From it being pointed out at prom, to just a week ago having someone tell me “you never told me you had eczema!” while walking out of the gym (…crazy right?), I still hear it all. I noticed that I was developing worsening symptoms after I hit puberty, and decided to do something about it.
Once I hit puberty, my “spots” began to get extremely inflamed with temperature changes. When I develop a cold or virus, it feels like thousands of pins are being stabbed into my back, making it so painful to have others touch me or even wear clothing. When the temperature changes outside, I will have digits/my arm go numb, and my spots will turn a bright red (specifically for cold temperatures). Nothing is able to warm my body up but hot water, so morning and night showers in the winter are a necessity. I have had multiple instances of running to the bathroom while out and about to get rid of the pain in my arm/hands by running hot water all over it. It has been brutal.
Summer 2023 I decided to go to a CMTC conference in Ohio, where I went to seek a community and understand more about what is going on. At the conference I met a CMTC specialist, who informed me that I did not actually have CMTC, and in fact what I did have has never been seen in medical literature. You can imagine how this would make a 20 year old girl, already insecure about her appearance and the side effects, feel. I was not only told that the diagnosis I have known for 20 years is not actually my real diagnosis, but I was also ripped from the one community that might understand it. I spent the next 8 hours pacing the Cleveland Ohio Airport crying, and explaining to my mom that its not about a “cure”, its about a community.
I was referred to Columbia University from this conference and told to consult with their Vascular Abnormality team. It took wayyy too much effort to be seen, and once I was I felt like 3 year old Maddie again. I was poked and prodded in every direction, with 10 other people in the room with me. Nobody has seen what I have, and so there I was- a 20 year old girl naked in a room filled with doctors, students, and nurses waiting to see what a rare vascular abnormality looks like. Since being a patient here I have undergone genetic testing, blood tests, XRays, a few skin biopsys, the works. They still do not know what is going on, but want me to start laser treatments for my temperature sensitivity, to ultimately cauterize some of the capillaries that are affected by temperature. All they told me was that it is painful, but necessary. I am tired.
I am currently a senior pre-med student at college, working towards becoming a doctor to be a voice for those like us. I shadowed an entire neurosurgery team over the summer, as well as do my own neurological developmental research within my institution. My father has had multiple brain surgeries pertaining to his vessels, and although it has never been AVM (he had stent placements for a different reason), I value the work within this field greatly. I want to contribute to the neurosurgery field and help those like myself and you all. Not many physicians can say they understand what it is like to be on the other side of the exam table. I want to change that for my future patients.
I don’t know how to explain how important it was for me to find this place. While I do not have an AVM, I have so much overlap with those in this community. I hope to find solace with you all, and I welcome all questions, discussion, etc.
