I think what’s hard now is that she has this relatively new label. There’s still a lot of kind of mystery and unknown about what we can expect in terms of her and the length of her life. This is a disease that right now is identified in about 50 people, so there’s not a lot of clinical information to go off of. Like anything, there’s always the unknown and we’ve gotten pretty good at dealing with the unknown. It’s not fun, but I think because again we’ve been dealing with this for such a long time, we’ve gotten pretty adept at just kind of seeing what comes.
Mother of Riley, child, CLOVES syndrome
You never know what can happen
You never know, these lesions can expand at any time, he has some near his heart, and that scares me. They closed up most of the big abnormal veins, but it’s always just scary knowing that they don’t know a tremendous amount about it yet. You never know what can happen, that’s scaring us… The thing is that you don’t know everything that can go wrong with him and there’s nobody really [with this]. Since there’s not many people with CLOVES, not many hospitals have doctors treating patients with this or researching it.
Mother of JT, toddler, CLOVES syndrome
It’s extremely isolating
[It’s] isolating, because it’s not as if there is a lot of support as far as other parents who have the same diagnosis, so it’s extremely isolating… He’s having some eye issues now and they’re trying to figure out if this is similar to his lesions or if this is something totally separate. We’ve been seeing eye specialists who are consulting with his team here, because there is something that’s growing in his retina, and the specialist feels like it could be disease-related so they’re trying to figure it out. And that’s the problem with having a very rare diagnosis; Jack is one of the oldest cases, so he’s kind of the new kid on the frontier. If this is part of his condition, maybe the other cases haven’t exhibited it yet, so they’re trying to figure that out. So we come down and we’re monitored. He still has GI issues that he struggles with which is why we’re here today, so he is watched, he is watched closely.
Mother of Jack, child, Cutaneovisceral angiomatosis with thrombocytopenia
No one really to turn to
You have no one really to turn to. There certainly isn’t anything that you can find on the internet. As far as me figuring something out and doing medical research on the internet, that option is taken away from you, which is probably in some ways a good thing. But also, because it is an extremely rare diagnosis, it’s a struggle because not only the average person doesn’t know anything about it, but neither do nurses or doctors or specialists. So you have to be an informant and explain things to all of them, and you always have to carry his complete medical history because they have nothing to go by. For example, if Jack runs into a medical emergency at home, when we go to the hospital these doctors have never even heard of his condition. There’s a medical paper that they could look up about it, but there’s nothing for them to go and look to as a resource to find out what to do.
Mother of Jack, child, Cutaneovisceral angiomatosis with thrombocytopenia
One of the oldest children with reticular hemangioma
Joe is one of the oldest children with reticular hemangiomas, he was the first one to survive. So what comes next has always been [unknown]… For instance we started to notice affect from the lesions in his bladder past the age when hemangiomas are almost involuted. When they started to cause symptoms, it was alarming, we didn’t know what was happening, we weren’t sure what was going to happen at puberty when he started getting hormones.
Mother of Joe, pre-teen, Reticular hemangioma
Can you help me?
Mom: The rarity of the disease is very tough. At home it’s really tough dealing with it, because the hospital, it’s like they don’t want to learn anything. Everything that happens, they’re like, “You need to ask Boston, you need to ask Boston, you need to ask Boston.”
Dad: Yeah, that’s aggravating.
Mom: It’s frustrating to me because I deal with it every day, cause I’m the one that takes him for all his appointments, and I’m the one that has to deal with the frustration of the doctors and the hospitals.
Dad: Phone calls and emails.
Mom: And I’ve had to do all the leg work myself. Transferring the medical records. I don’t have a single person back home that I can go to, a doctor that I can go to, to say, “I’m having this problem, can you help me?” So that’s hard.
Family of Michael, child, Blue rubber bleb nevus syndrome
Lymphatic malformation, nobody’s ever heard of that
They did a newspaper article in the newspaper. That, I think, was a fantastic thing because at that point she was 13 and even if a teacher or peer at school asked what she had or knew that she had lymphatic malformation, nobody’s ever heard of that. It’s not like cancer or diabetes, nobody’s ever heard of that. Within the newspaper article, it was very neat that it explained the medical side of it, too, where I had her guidance counselor call me and say, “I’m so sorry, I should have known all this, but I just assumed— ” You just look at her and think she has a big face, and I think that was kind of frustrating for her, to not have a name on what she had or a name that other people had heard of or understood, too.
Mother of Ashley, teenager, Lymphatic malformation