The diagnosis is a venous malformation… Mostly it’s cosmetic. It’s a lot of extra veins, vasculature that are kind of woven into the muscles and the nerves. That’s pretty much how I describe it to people. It’s kind of veins gone wild [laughs].
Katherine, adult, Venous malformation
It’s called CLOVES syndrome
Riley: It’s called CLOVES syndrome. It makes bumps inside or out of your body, and you have to take them out with procedures… You have to go to the hospital a lot. You can really get bumps many places in your body, and so it’s not like you get sick.
[Later]
Riley: The bumps are called malformations, and it can actually grow pretty quickly. They can actually grow in like, a month.
Mom: What else have you learned?
Riley: It can be sort of dangerous because if you have one in your spine, you could get paralyzed which I did and luckily it wasn’t anything bigger than just one arm, and I’m glad my whole body isn’t paralyzed.
Riley, child, and mother, CLOVES syndrome
KT impacts everyone in a different way
[KT] impacts everyone in a different way, but for me, it basically means that my left leg is about twice the size of my right one. Instead of the veins being straight they’re all tangled together, which creates a lot of blood flow problems, and because of it I’m very prone to getting cellulitis, blood clots, deep vein thromboses and things of that sort. Also, I have a large purple birth mark that stretches from my hip area down to my knee, and a lot of vesicles, which can be problematic because they bleed and can let bacteria in. There are maintenance surgeries that can be done with those every once in a while though so it can stay under control. Basically that’s how it impacts me.
Erica, young adult, Klippel-Trenaunay syndrome
Manifests as vascular and orthopedic abnormalities
I have Klippel-Trenaunay syndrome. I always just tell people it manifests as vascular and orthopedic abnormalities. It used to be the good broad header for what kind of effects I experience…. I think I was diagnosed when I was 9 days old, and by the time I was a toddler I was having surgeries. Obviously I don’t remember a lot of that time now, but I would say by 4 or 5 years old I was pretty well aware, by then I had had several surgeries. I remember in kindergarten being on crutches and having a drain* and that sort of stuff.
Sarah, young adult, Klippel-Trenaunay syndrome
“Joe marks”
Joe: It was when all the blood from my heart was only going to my right leg, and it wasn’t going anywhere else in my entire body, which was basically shutting down everything.
Mom: It’s a reticular hemangioma.
Joe: Yes, that’s what it is.
Mom: It was named after we were diagnosed, Joe had a hemangioma that didn’t match anybody else’s pathology in the world bank at that time.
Joe: It’s actually kind of funny because they had a couple of different names. One of them came up with “Joe marks” which was funny.
Mom: Originally, that’s what they would use when they were helping other cases—amongst themselves, not publicly.
Joe, pre-teen, and mother, Reticular hemangioma
Steve, teenager, Lymphatic malformation
The vanishing bones disease
To this day I probably don’t even have a full understanding of it, but as far as I’m concerned the nickname for Gorham disease is vanishing bones disease. I know that my malformation is the size of my fist, and it’s been sitting in this spot between the bottom of my neck and the top of my thoracic spine. It’s been there my whole life, but puberty actually triggers it to become active. It can destroy parts of bone and actually make bone mushy. When I had my first surgery, part of my vertebrae was the consistency of chocolate pudding. To get it to stop we treated it with an antiangiogenic called Interferon. It’s most commonly used for leukemia, but like I said there’s really no written plan on how to stop it.
Kevin, young adult, Gorham disease
It was lymphedema
It was lymphedema… It was in the early 80’s when I was diagnosed, but they didn’t really know at first. I was born with this disease, and it took until I was eight years old until they finally figured out that it was lymphedema… The side effects are excess fluid buildup in your limbs that can mess with your heart.
Carlos, adult, Lymphedema
Lymphatic malformation
I was born with lymphatic malformation (LM) that involves my face, mouth, neck & airway. It was first diagnosed when my mother was 4 months pregnant on a pre-natal ultrasound… One of my doctors describes LM perfectly. It’s like a chocolate and vanilla marbled sponge cake where the LM mixes into the surrounding normal tissue in no particular pattern or reason. The lymphatic cysts are numerous and “clump” together. When I was little, the cysts were fewer in number but larger in size, which made it easier to treat when I got cellulitis. As I’ve grown older, the cysts have increased in number but decreased in size, making it more difficult to treat the cellulitis because the medicine has a hard time making its way into all of the tiny cysts. The biggest challenges regarding the LM has been the chronic cellulitis & pain that goes along with it.
Emily, adult, Lymphatic malformation
The little blue dots
The doctor looked at the MRIs and he said “this is a venous malformation…” It’s where you have these abnormal veins and they fill with blood and then they kind of spider web out and the spider web is really soft and squishy like a sponge.
[Later] I had started to get these tiny bluish-purple dots on my legs and back and arms. And everyone was like “Oh it’s just little birthmarks it is nothing to worry about.” But growing up, by the time I was 5, I can remember doubling over with abdominal pain, it was really bad and I would cry and it was terrible. And my mom would be like “do you have to go to the bathroom?” And I would be like, “I don’t know,” because I didn’t feel like I had to go to the bathroom but I just remember being curled up in pain. And 7 years later I would be diagnosed as having blue rubber bleb nevus syndrome which were the little blue dots.
Lucy, adult, Blue rubber bleb nevus syndrome