VA_blue_CVM Combined Vascular Malformations

The doctors immediately knew something was wrong
He has Klippel-Trenaunay syndrome, and it affects the right leg and buttock area… When he was born you could tell that his right leg was larger than his left leg, and he had purple port wine stains, birth marks on his leg. I could immediately see the purple, and it wasn’t long before we saw the size difference too. The doctors immediately knew something was wrong, but I don’t even think that our doctor knew exactly what was wrong until he did some research and looked it up.

Mother of Cooper, child, Klippel-Trenaunay syndrome


She’s diagnosed with Klippel-Trenaunay Syndrome
She’s diagnosed with Klippel-Trenaunay syndrome, which is a venous malformation syndrome. When she was born, one leg was about 2-3 times the girth of the other leg and then from that she also has overgrowth of the veins. They grow right through her skin in places so she experiences a lot of bleeding from that. The valves are also compromising the veins so lymphedema and chronic pain are part of her issues.

[Later]At the birth, we knew something was different… Her one leg was 2 to 3 times the girth of the other leg, and then she has the port wine stains with the blebs, and the blebs look like little scabs. So down each leg she has what looks like a birthmark, a large birthmark down both of the outer parts of the leg and then there were those scabs in it… Seeing her after she was born, you know, it’s not what you expect. I think there’s some shock, and in our case no one expected it. The doctors had no clue that this was coming and so it’s kind of surreal and it’s a shock, and I think you have a little bit of denial for a while.

Father of Natalie, child, Klippel-Trenaunay syndrome


She doesn’t have a normal lymphatic system or venous system
It’s K-T syndrome… Basically, for Caitlin, she doesn’t have a normal lymphatic system or venous system. She has a lot of vascular malformations on her internal organs, like her kidneys, and she’s had bleeding problems from that. She’s prone to infections like cellulitis. She had an abnormally large overgrowth of soft tissue on her left calf, so she had a de-bulking procedure to help with that because she couldn’t really wear regular shoes. Mostly she has complications with blood clots and bleeding, infections, and pain.

Mother of Caitlin, pre-teen, Klippel-Trenaunay syndrome

VA_boston bay_VM Vascular Malformations

The wires crossed 
It’s not genetic. The way that they described (this is really layman’s terms) is that one day in the development the wires crossed. It was just as simple as that. I’ll just describe what his condition is. It’s balloon like cysts underneath his skin, and some are large, some are small, so some are the macrocysts and some are the microcysts. And they’re filled with fluid, they’re fluid like, so if you touch it, it’s very soft. In every child with LMs case, it’s purely physical cosmetic issue. A lot of times it does affect the internal organs, like Matt’s airway is infected a little bit, his tongue is infected. But mentally and cognitively, there’s nothing wrong there.

Mother of Matt, child, Lymphatic malformation


A defect in the veins
He has a venous malformation which they believe is a particular type called the glomuvenous malformation.…. It’s a defect in the veins, so in him it affects the veins of his right foot and leg and it’s a congenital malformation which means that it’s genetic. Myself and his siblings have a very mild form of it but he has the most severe form of it. It has something to do with the walls of the veins; there’s some protein or enzyme or something that’s missing in there that would give the walls rigidity, so they become distended and then blood pools and it’s tender. The areas that are affected are tender to the touch, and also because of the blood pooling he tends to get blood clots within the areas, which can be painful to him.

Mother of Liam, child, Glomuvenous malformation


We didn’t have very much information
In utero it looked like it was a small cyst that they thought they could remove before delivery. When she was delivered by a scheduled C-section, the doctors then knew that it actually was a lymphatic malformation. We didn’t have very much information. A lot of the doctors said different things… They had said a cystic hygroma, but I guess it’s now called a lymphatic malformation. They just didn’t have all the answers in regards to the diagnosis, you know what types of treatment to do, what age, and that type of thing… [We researched] through the internet a little bit, which was kind of probably not the right route to go [laughs]. A lot of misinformation out there also, at least 14 years ago. They obviously know a lot more now than they did then.

Mother of Ashley, teenager, Lymphatic malformation

VA_pink_VT Vascular Tumors

I didn’t think any of the doctors around us really knew
We knew that she had something at 1 ½ weeks old. We didn’t really find out that she had hemangioma for a while because we were being told it could be port wine stain, it could be Sturge-Weber. I didn’t think any of the doctors around us really knew, so I was waiting for my appointment and that’s when they told me that she had hemangioma… It’s a red rash looking thing around her eye, started off. That was pretty much it, the rash around her eye, and then that started to grow, and take up larger parts of her face eventually.

Mother of Anne, child, Infantile hemangioma, PHACES association


You don’t have anyone to talk to
She was diagnosed of having PHACES. Hemangioma is one of the signs of having this condition called PHACES, and if you have multiple of these signs then you’re considered having PHACES. She had the other one too and when they did an MRI, they found one cerebellum was bigger than the other. It could mean nothing, but we’re monitoring that closely to make sure there aren’t any neurological issues, but so far there haven’t been any. But it was pretty traumatic, and you don’t have anyone really to talk to, and you look at the internet, which is probably the worst place to go. But checking in with our doctors, they would always sort of set us straight as far as what was reasonable and what was not.

Mother of Anne, child, Infantile hemangioma, PHACES association


Really big long name of a tumor
It was what they call a KHE. Actually, going into the surgery they originally thought it was an AVM, an arteriovenous malformation, but once they got the results back after his surgery and they had removed the tumor, it was considered a KHE, and I am sorry that I do not have exactly what that means, it is a really big long name of a tumor… He was actually born with a red spot on the back of his head. They had said it was a birth mark. I mean, it wasn’t raised, it wasn’t anything, it was just kind of like a stork’s bite. Anyway, it had started growing, it didn’t look like that part was growing, but it looked like his skull was in fact growing, and we kind of noticed it right about the time he turned four.

Mother of Derek, child, Kaposiform hemangioendothelioma


Probably about 20 cases worldwide
Jack has a condition called cutaneovisceral angiomatosis with thrombocytopenia, so he has vascular lesions that have been internally in his lungs and GI tract, his spleen and he has them on his skin as well. He was born with a large vascular malformation on his nose and when he was about 2 weeks old his typical baby spit-up had evidence of blood in it, and it kind of snowballed from there. Then they started finding other bleeding vascular lesions in his GI track and lungs. We were actually probably more inpatient than we were at home for the first 3 ½ years of Jack’s life… There are probably about 20 cases worldwide, with his condition, and he was one of the first cases here.

Mother of Jack, child, Cutaneovisceral angiomatosis with thrombocytopenia