I couldn’t receive a diagnosis
[There was] lot of concern. I couldn’t receive a diagnosis, she was born in our home state and I did not get a diagnosis there. She was in the NICU for about two weeks, and during that whole time, they couldn’t get a diagnosis. They didn’t know what was wrong with Gabriela; they didn’t know what was wrong with her limb since it’s a very rare disease and there are not too many people that have even heard of Klippel-Trenaunay syndrome. So I didn’t receive my diagnosis at home, I received it when I came to Boston… We were first seen elsewhere, and somebody had toyed with the diagnosis of Klippel-Trenaunay syndrome but they couldn’t be sure, and then finally, when I came to Boston, she was diagnosed.
Mother of Gabriela, toddler, Klippel-Trenaunay syndrome
They told us it was cancer
We found the first venous malformation, the one on his head, when he was 2 months old. He was misdiagnosed until he was 8 months old when we found the second venous malformation, and at the time they told us it was cancer. They did emergency surgery to take out the tumor, and then after the surgery was all over they still had no idea what it was. They kind of came up with a diagnosis, but it wasn’t exactly what he had but it was related to what he had, so that was when I forwarded the records to a different hospital.
Mother of Michael, child, Blue rubber bleb nevus syndrome
The thing is it started growing
They said at the beginning it was a hemangioma and they said it might go away after 5 years. He’s a kid and there’s no way he can handle surgery, so they kept in contact every 3 months or so. They developed a team, they all checked him out and every six months where they have the anomalies clinics, they meet and see certain kind of patients. They were seeing him, but the thing is, [it] started growing, started growing inside and outside and it started hurting him. he started having pain, so they gave him aspirin at the beginning, they didn’t know,
Mother of Sammy, pre-teen, Venous malformation
We knew he was not diagnosed correctly
When he was born, he was born with one leg that was larger than the other, and our doctors in our home town thought he had Klippel-Trenaunay-Weber. We went home from the hospital one week after he was born. He had a little bit of heart failure at the beginning, but pretty much right after we got home he started ulcerating severely all over his birth marked area. We took him to at least 20 doctor appointments within two weeks, and no doctor knew what was happening. One even suggested the ulceration was diaper rash [laughs]… He was about a month old and those ulcerations were down to the fat layer—they were terrible, and we took him to see a general surgeon. He wanted to re-admit him to the hospital. He immediately debrided the dead tissue and did a chest x-ray.
Oddly, two days prior to this we had gone to his cardiologist and he was doing pretty well, we had to up his furosemide a little bit, but his heart was doing well. Now just two days later, the x-ray showed that his heart made up 90% of his chest cavity. He had to have surgery; our home town team wanted to bring in an interventional radiologist to perform the surgery, and it would have to be done the next morning. The morning they were going to do that procedure, they decided they could not do that procedure on him. It was too risky to do it locally and we would need to be air-ambulanced today to a hospital that could help us. When Joe had started ulcerating I called and spoke to a vascular anomalies specialist in Boston, MA. I talked to a doctor here, and he was very helpful and had told me to come out when Joe was 6-months old. When they asked where we wanted to go, I did not hesitate, I knew we had to go. I knew they could help us.
Mother of Joe, pre-teen, Reticular hemangioma
They had told us that it was a tumor
We did have a misdiagnosis from the beginning… We took him to a doctor, and they originally wanted us to just go to a dermatologist. When they called us back with that appointment, it was going to be like, three months down the road, and we were like “mmm, no” and we went ahead and got our own referral and went to the hospital. They did an arteriogram and he was diagnosed at that time with a vascular bone tumor. They had told us that it was a tumor that was in all three layers of the skull, and they were going to have to cut out like a 3×3 of his skull, which is when we started talking with [other doctors] and trying to get a second opinion and through connections we got in to another hospital.
Mother of Derek, child, Kaposiform hemangioendothelioma
There was a lot of frustration
There was frustration when we first started having it checked with our doctors here. They kept telling us, “No, it was nothing, it was nothing,” and then they wanted us to see a dermatologist and when we finally decided no, we’re not going to go that route, they didn’t want to refer us on because they thought that we were kind of overreacting when we said, “No, we wanted to go ahead and do the MRI.” Once we get there and found out it was a tumor, that was very frustrating that they wanted us to take another approach and that could’ve dragged it out a lot longer. Then there was a lot of frustration when we found out that he was misdiagnosed at the hospital here at home, that they could have done completely the wrong procedure. At the same time, we were just thankful that God rerouted us. Prayer is very big in our lives, my dad’s a minister, my husband’s dad’s a minister, and so we knew that God was in control and that it would be okay, that it would be tough to get through it.
Mother of Derek, child, Kaposiform hemangioendothelioma