It’s confusing to grown-ups too
Riley: I think it was 2008. That was when I was diagnosed with CLOVES. I was born with the bumps, so we knew that something wasn’t exactly regular. We were sort of seeing what was wrong, and then finally in 2008 we figured it out. I think I was 6 at the time, so I didn’t understand much about it, but after a while, my mom started getting sort of interested and that’s how she made the CLOVES website. I didn’t really know as much about it because I was so young then… [Now] I know pretty much all about it, it’s just sometimes so confusing.

Mom: It’s confusing to the grown-ups too.

Riley, child, and mother, CLOVES syndrome

 

The disease I have is called Gorham disease
The disease I have is called Gorham disease and the process of being diagnosed was a very long, complicated series of events. It’s actually a malformation, and it is located on the base of my neck at the very top of my spine. I was in high school at the time, playing high school hockey and my back had been hurting me for some time but I was told that it was a muscle spasm. My muscles were spasmed but it was just hiding the real problem. So after x-rays and several trips to the doctor, I finally got an MRI and that was the first time that they could actually see the lesion. Then from there, the story gets more complicated, but that’s pretty much the story of getting diagnosed.

Kevin, young adult, Gorham disease

 

It is very often misdiagnosed
I don’t think any location is particularly common, just because the disease is so rare. I guess if there is a common place for it to develop it would be the jaw. The tricky thing about this disease is that it is very often misdiagnosed. It’ll be diagnosed as a cancerous tumor or something else. My doctor always told me that there are only 200 cases in the medical literature but we don’t know how many cases were misdiagnosed.

Kevin, young adult, Gorham disease

 

I had that diagnosis for most of my life
They diagnosed me with hemangioma for a long time, and I would do all this research on my own, hemangioma, hemangioma, hemangioma. [laughs] … Then I went and saw another doctor and she said that it wasn’t hemangioma. I had that diagnosis for most of my life, until I was like, 21 …I suppose the only thing it changed were the potential outcomes. I know that sclerotherapy is the procedure of choice for venous malformations and I had a lot of sclerotherapy done and it doesn’t do much. It’s not worth going through what you go through, at least from my experience. And, again, this is for a venous malformation, not an AVM or hemangioma.

Katherine, adult, Venous malformation