Combined Vascular Malformations
Obvious that something wasn’t right
[I knew something wasn’t right] when I was four months pregnant. In the ultrasound, they noticed that one of his legs actually bent the opposite way, and then the other one was larger than normal, but they didn’t know exactly what was wrong until he was born. There’s not really anybody with that, but they actually had had somebody similar 30 years back, the same nurse had taken care of that person. They had called it KTS then, which is what they said he had at the time, but at 6 weeks old they told us that it was CLOVES which is similar, I guess.… I didn’t know to the extent of how bad it really was. They said at first they thought it was just leg-bending and they could cast that and it’d be done, but it was very different. When he was born, it was obvious that wasn’t all that was wrong.… His leg was huge as well as his body and his limbs were smaller, and skinnier. It was very obvious that something wasn’t right, and they’d never actually seen anything like that other than one nurse had actually seen it, like I said, 30 years earlier, and she recognized it.
Mother of JT, toddler, CLOVES syndrome
They wouldn’t even let me hold him
I had to stay in the hospital. He spent one night in my hospital and then they took him the next day, and it was just awful that I had not even been able to hold him yet. That was the worst part, that they wouldn’t even let me hold him. So I spent one more night in the hospital, and then when they let me go, I just put my clothes on and we went immediately from my hospital to his, and fortunately we only live about 20 minutes from that hospital, so I was able to travel back and forth for those days while he was in the NICU. I’m just thankful that we were close enough to do that, because so many people live so far away, and then they don’t have anywhere to stay when they have to go to another hospital.
Mother of Cooper, child, Klippel-Trenaunay syndrome
They weren’t confident at all
Mom: They weren’t confident [in the diagnosis] at all.
Dad: When she had the infection at a month old, the head of pediatric surgery at our hospital had never seen a case or dealt with a case of KTS before, and he recommended we do some debulking surgery right away. Between me, my wife, and our pediatrician, we were doing some research online about what her condition was and her pediatrician says, “I think she might have KTS.” So we ended up booking a trip to a hospital out of state, and we took her out there and we met with a doctor there and his staff, we met with some orthopedic people, vascular maladies people… We basically had a two-day appointment there and the final diagnosis was that she doesn’t physically have complete KTS, she has more of a crossbreed between KTS and just a vascular malformation, is what they call it.
[Later]
Dad: It was basically us and our pediatrician. Her pediatrician would do some research online because he never had to deal with a case like this, and he was trying to educate himself. We constantly talked on the phone and said, “hey, look at this website; hey, I think you should go and talk to people at this other hospital.” We kind of just worked together to determine what the next step was going to be.
Parents of Erin, child, Klippel-Trenaunay syndrome
It’s been kind of an 8-year process
Her diagnosis has been a real work in progress… When I was pregnant with her we had an ultrasound and there were some abnormalities found. Then we went and had a level 2 ultrasound, and we found out she had a lymphatic malformation, which is a vascular malformation that involves your lymphatic system not working correctly. So I was considered a high risk pregnancy, and we had a C-section with her, because it was under her right arm, and the malformation was so big that her elbow was essentially pointed up and to the sky. That was what we knew when she was born and then this other stuff came along after that. She has some overgrowth and then some really rare spinal vascular malformations and so she got an official diagnosis of CLOVES, which is a new label, in 2008. She was labeled with partial Proteus syndrome before that, and again both of those syndromes have vascular malformations, overgrowth, and they’re both progressive diseases.
CLOVES is a new label and so folks knew she didn’t really fit in the Proteus category, but that was the best label at the time. So it’s been kind of an 8 year process [laughs]… I think when you’re new to getting this news, and you have this baby in your belly, there’s hormones happening, and there’s like, “Oh my God, what have I done to do this?” So there’s a lot of guilt and second-guessing, and I want to listen to doctors but I also want to listen to my gut. It was a very, very intense time.
Mother of Riley, child, CLOVES syndrome
We were fortunate
We were fortunate. They knew that there were problems but they didn’t know exactly what it was going to be. They knew something was wrong when I was pregnant, but the neonatologist diagnosed her. A lot of people don’t get diagnosed correctly, but we were fortunate to have a good one, we got the diagnosis at birth… She has the port wine stain on both legs, I guess enlargement or hypertrophy of the soft tissue of her legs, and then they did the MRI and the bone is larger on one side, and then a lot of vascular, almost like little blood vessels on the outside of the skin, basically. With all those characteristics, they knew it was this syndrome. That’s how they, I guess they looked it up.
Mother of Caitlin, pre-teen, Klippel-Trenaunay syndrome
Vascular Malformations
There was no clue whatsoever until she was born
[We knew] the moment she was born. The whole right side of her face was purple. Her right ear, the whole right side of her face, portions of the lower right eyelid, little bit of the nose, the lip, the cheek, inside the mouth and all that… [There was] no clue whatsoever until she was born. Nothing showed up on any ultrasounds or anything like that. There were no other complications during the process or during delivery.
Father of Charlotte, toddler, Lymphatic malformation and high-flow vascular lesion
It seemed like forever before we really knew
I went to my OB/GYN. They actually thought maybe it was a cystic hygroma (they used the old terminology) but they weren’t sure, so they sent me in to a different hospital to get an ultrasound there. That’s when they knew a lot more about what exactly it was, and they said, “We’re 95% sure that this is what it is, but we’re going to send you over to another hospital.” So they sent me there and throughout the day I must have seen 5 doctors, 6 doctors in that one day, I mean it was exhausting. We didn’t get out of here until like 8:00 at night or something… It seemed like forever before we really knew, but it was really only probably a day until they were able to confirm what we were dealing with.
Mother of Matt, child, Lymphatic malformation
She gave us 90 different diagnoses
When she was born the doctors at first thought it was the umbilical cord that was wrapped around her arm, but one of the nurses said that it wasn’t it because it was a blue-ish and purple bruising and it was swollen and it looked bigger than the other hand. They consulted the pediatrician who came in, he consulted I don’t know how many doctors, 6 or 7 of them and they did different tests to see whether or not it was a tumor. They did ultrasounds of the kidneys, x-rays, and they consulted a hematologist and the hematologist then thought it was a hemangioma. Then all of a sudden they weren’t 100% sure and she gave us 90 different diagnoses, it could be this, this, and that. I consulted one of my friends’ dads who knew someone up in New York, and he mentioned that he thought it was a vascular malformation.
[Later] We went to— I can’t even tell you how many doctors we went to, how many hospitals. We went down to a children’s hospital near our home, they did an MRI down there. She stayed three days because she had the MRI and other imaging tests and after that, they consulted a hematologist. We did genetic testing with her, and the hematologist down there again said “it could be this, this, and that, I really don’t know what it is, I’ve never seen it.”
Mother of Emma, child, Venous malformation
The doctors here had never heard of it
When she was born she had a mark on her forehead, and they did an ultrasound at the hospital to check the blood flow. They couldn’t really see anything at that point so they thought it was just a superficial birthmark. Then when she was 4 weeks old she went for an MRI and it was probably about a week or two later that I took her to the doctor for something unrelated and he happened to have the results then and she was diagnosed with sinus pericranaii. The doctors here had never heard of it, didn’t quite know what to do, so we just bounced around from all sorts of different people, neurologists, brain surgeons, plastic surgeons here. Finally the neurologist here, she happened to know a specialist and she got us hooked up with him and when she was about 7 months old we went to them for the first time. At that point we were also told that she had a venous malformation in her brain as well, where back home, they just kind of didn’t know exactly what it was and whatnot.
Mother of Grace, child, Sinus pericranii
They told us it was probably a birthmark
He was probably around four or five months old. We had noticed on his foot that he had a bruise, and it wasn’t going away, so we went to a dermatologist and they told us it was probably a birthmark. As he got older, probably around when he was about 14 months old, we noticed that he had some purple-ish, blue-ish areas behind his leg, in his calf, and the calf area started to swell up. He was starting to have pain, like putting his socks on was hurting him. At that time we had brought him to the ER, and we ended up seeing a doctor who was a specialist in vascular anomalies, and that’s when they diagnosed him with a venous malformation. They thought that maybe we could treat it with just pressure dressings, kind of like stockings in older people to help control the distended veins. Then when he didn’t tolerate that, and things became more painful and more distended, they suspected that it was a glomuvenous malformation in which veins are actually more tender than in a regular venous malformation… They said that most likely they’re pretty, pretty, almost 90% sure that’s the diagnosis, because he doesn’t tolerate pressure.
Mother of Liam, child, Glomuvenous malformation
I was shocked because the doctor was shocked
He has a venous malformation on his left side of the body, the abdominal area, like half of his stomach, half of his back, and half of his thigh, all on the left and they’re all connected. [I knew] the moment he was born. Actually I was shocked because the doctor was shocked. I mean, he had it when he came out, and the doctor who was delivering the baby, he said, “Oh, my god, what is this?!” I started shivering, and he did not even give him to me to hold him because he was scared, he didn’t know what it was. He just put him in ambulance and sent him to a different hospital nearby… He stayed there four days for them to check him out and see what it is and what’s going on with him, and during this time, my husband went with him and I stayed in the local hospital. Three days after I came out, I went over there and they did not know what was going on, so they referred him to a different hospital, they sent him there and he’s been with them since then until today.
Mother of Sammy, pre-teen, Venous malformation
It was such a rare disorder
Because it was such a rare disorder, the medical community in the beginning when he was born, they kind of had us running around, having him have different tests. They first thought it was a hemangioma, they thought it was a lymphangioma, and so we started going to different hospitals around the United States to try and get an accurate diagnosis. Once it was biopsied and his cataract was removed and we discovered he had microthalamus, which his eyeball was 25% smaller, they made the diagnosis that in fact, with all of that, he also had the lymphatic malformation.
Mother of Steve, teenager, Lymphatic malformation