What are some common questions that families have?
The questions really are regarding treatment when we see them because we’re seeing generally in clinic itself, we rarely see them in isolation. We’ll see them with one of the surgeons, one of the dermatologists, one of the oncologists, and we have a joint approach to it. When it comes to our part of it, the questions they mostly have are regarding our treatment options rather than what the diagnosis is. Questions about treatment are: “Can you cure it?” and the majority of cases, we say we can’t cure it. “What are the benefits and side effects?” Then we can explain the benefits. Our aim in the majority of cases is to reduce the pain which is often associated and reduce the cosmetic effects of it in some cases or, in applicable cases such as large head and neck malformations, decreasing the effect on their airway, so they often have tracheostomies and things like that, so those kinds of options. They want to know, “Will my child look the same, normal as any other child at the end of treatment?” And you have to create realistic expectations.
Gulraiz Chaudry, MB, ChB, MRCP, FRCR
Probably the most common things that I deal with are hemangiomas and capillary malformations, so treatments for both of those. For capillary malformations, we discuss laser so questions would be when to start, how to do it, whether they should go to sleep or not… For hemangiomas, we have lots of different types of treatments, different medications, procedures, and the side effects of all of those and when to do those.
Marilyn G. Liang, MD
The most common question is what does this vascular anomaly diagnosis mean for their child in the future. What people really want to know about their 3-year old is what will they experience at 13, 23, 43, and we have a lot of insight but unfortunately little data about that. These are hard questions in rare disorders; patients are scattered geographically and don’t see us regularly. We’re limited to the follow-up we receive on our referrals and are constantly encouraging families and physicians to keep in touch. I hope that years from now we have better answers to these questions.
What families are really asking is, “How many more surprises are there going to be? How worried do I need to be? How much do I need to psychosocially prepare my child” and if I can say “you have a lesion, and it’s done and it’s over” that’s a very different conversation from “this is something that will be an ongoing problem, and every once in a while as things get symptomatic enough we’ll address the part that’s the most of the problem”. Those are very different expectations to set, and the better we can do that, the better care we provide.
Cameron Trenor, MD
ES: A lot of people ask how often we see patients with their diagnoses. A lot of these diagnoses in the general population are extremely rare. For the most part, the rare is quite commonly seen by our team. Patients and families are often surprised and comforted by this.
MBS: I think, too, there might be a lack of understanding often about whether or not this is something the child will have for the rest of his or her life. The only things that we see that go away are the hemangiomas, other than that it generally is a lifelong diagnosis. It doesn’t mean that they’re going to have always have symptoms or problems, but it is helpful to introduce the idea that treatment will happen, but 5 years later or 10 years later they may have some symptoms and need to have more treatment. Then it’s a process of us following that person through their lifetime as things arise. We cannot cure most of the lesion that we see and it is truly a lifelong process for many of our patients.
ES: A lot of patients inquire about the prognosis, or how things will progress into the future. Often the prognosis needs to be considered on a patient-to-patient basis. Where these diagnoses vary so much, it really is hard to predict a patient’s course. We do our best to educate patients on the spectrum of potential for each diagnosis. This involves constant reinforcement, re-education and telling people to keep in contact with our center if they see a specific symptom starting to arise or if things are getting worse over time.
Erin Spera, MS, CPNP and Mary Beth Sylvia, MS, FNP-BC
Some of the common questions are: Is there any research to improve the treatment, make it shorter, less invasive? Is it genetic? Did the child inherit it from me? Is it something I did during pregnancy? Is it possible that it may change into a cancer in the future? Could that malformation be hiding somewhere else in the body? How many times do you have to go through this treatment? The answer to most of these questions is known but some questions are difficult to answer with certainty. Some patients need lifelong commitment to the treatment and follow up. While we hope that our treatment actually can cure them, most of the time the interventions focus on helping them stay functional and free of pan and deformity.
Ahmad Alomari, MD, MSc, FSIR
I will focus for a moment on a relatively common condition. When children presented with vascular nevi (often on the face), parents were often worried, first of all, what does it mean? What are the implications of this for my child? Does my child have other problems? Second, is it going to go away? What’s going to happen to it? And third, what’s the treatment for it? Some nevi resorb spontaneously, but if you’re a parent, the time frame for spontaneous resorption is often long and there’s a lot of anxiety associated with it. Sometimes it depended on where it was, so if it’s in a prominent location or if it’s in a girl versus a boy there are different levels of anxiety about it. But one thing that my colleague Dr. Alexandra Harrison found was that even if the nevi or the vascular malformation was not obvious, it would often have a similar psychological impact. Even a hidden nevi led to the child developing a sense of defect or always thinking that there was something hidden, the child not feeling comfortable in school because they didn’t want to undress in gym class, things like that.
Myron L. Belfer, MD
What are common concerns that families have?
There are some early concerns about what are the acute or most severe risks and problems we see with these lesions. For patients where we’re using words like vascular tumors, we end up having a “Why this isn’t cancer” conversation. There’s a lot of support around conversations for the psychosocial aspects because some of these are really cosmetically challenging. One goal of educating patients and families is to help set expectations.
Cameron Trenor, MD
MBS: If the patient is a child and their lesion is visible to family members and kids with whom they go to school, there’s a lot of concern about how the child can deal with that, what they should say when people ask, “What is that?” There may also be concern about activity restrictions although we rarely restrict normal activities, including participation in sports. We take care of patients who have a variety of diagnoses who play sports and are active in their lives. There is a common social concern for the patients and families about how they are going to deal with the diagnosis and what they hear from other people in their lives. What do they say when someone teases them? I think a lot of that is learning to understand and live with what they have and describe it to somebody else when asked.
ES: Patients often ask if there is a genetic component to the diagnosis that can be passed generation to generation; parents and patients are concerned if future siblings or future children are at risk. There are only a few diagnoses at this point that we know to be familial. If patients have one of these diagnoses, there are blood tests that family members can take to better delineate familial carriers. We do not have genetic counselors available at our center but can certainly help families find one if they so desire.
Erin Spera, MS, CPNP and Mary Beth Sylvia, MS, FNP-BC
For some, the aesthetic appearance is a key concern, but many patients are more concerned with pain and function. Pain reduces one’s interest in aesthetic aspects and usually pain control becomes the priority for both the patients and physicians. Once pain is controlled, expectations move to the second level. “So, my pain is gone but my leg is still larger than the other one! How much improvement may I expect?”
Ahmad Alomari, MD, MSc, FSIR
They’re often worried about anesthesia. They’re worried about costs with insurance. Side effects, laser has a minor risk of scarring.
Marilyn G. Liang, MD
It depends on the deformity, the surgical history, the family history, et cetera. Chronic care is not so much an issue with isolated nevi , but if we’re talking about a vascular malformation, let’s say of a limb, which may require multiple surgeries or laser treatment or other kinds of treatment simply to control bleeding or that may result in poor mobility or a loss of function or things like that, you have to set (not yourself but along with the surgeon) what the realistic expectations can or can’t be, and then to help the child compensate to the extent possible. When you see large vascular malformations that require multiple surgeries, it’s the stress of the multiple surgeries, the hospitalizations, and in some cases dealing with a life-threatening situation. You have to be sensitive to the individual concerns of the patient and family and not generalize. One of the negative consequences can be that the children become hospital-dependent. I’m sure you see that with other problems as well, but children who become very frightened that they’re going to bleed or lose a limb, which may be the case with certain children that have vascular malformation of the limb; in order to preserve their lives they may need to have an amputation. Those children have to be monitored closely. I think often they require prophylactic psychological support.
Myron L. Belfer, MD
It’s really to do with, “Is this a tumor? Is this going to grow and get worse? If we treat it, is it going to go away? What are the complications?”… In terms of the malformations, we explain that they’re not tumors, so they’re not going to enlarge in size by themselves, but equally, they’re not going to go away, so basically the two options are to live with what you have, but if it bothers you on a regular basis have it treated.
Gulraiz Chaudry, MB, ChB, MRCP, FRCR
How do the concerns and questions change as the patient gets older?
Most of the things I treat are so rare that there’s a lot of shellshock early on. Most families have never heard of any of this stuff, and there’s a lot of fear up front—fear for the life of the child, their neurologic intactness, and things like that—and fear of the procedures. But then, as time goes by and they’re exposed to it and they’ve experienced treatments and they see that things are usually fine, it becomes integrated into their day to day life. Then the questions are much more specific about when can we do X, and when do we expect Y to happen, overall how long do you plan to keep on having to watch this, and things like that. So it really moves from shock up front to more concrete questions as they grow.
Darren Orbach, MD, PhD
It gets harder to do some of the treatments because the laser makes the birthmark purple for one to two weeks, so a lot of the kids are reluctant to either do laser during the school year or they want to try to schedule every appointment during a school vacation. There’s a lot more logistics when they get older and the kids become a little bit more resistant, even though they want to do the treatment, but yet they’d like to stay home for two weeks, so I’m a little giving at that point in time.
Marilyn G. Liang, MD
Children less than 5 years of age are rarely concerned about a visible deformity. As they approach their teenage years children become increasingly worried about the appearance of a lesion.
Arin Greene, MD, MMSc
Well, I think there has to be a recognition that children, regardless of whether or not they have a deformity go through the process of normal development as would anybody else. When you go into adolescence, now sometimes even at younger ages you get preoccupied with your body image, et cetera. You want the child/adolescent to have a chance to express themselves, and they should be able to talk about what their worries are, what their concerns are. If it’s a young woman, what can be done to try to compensate for that? And also there needs to be a certain tolerance for differentness. So some of these children/adolescents, in order to divert attention from one aspect of themselves, will dress in a punk fashion, will exaggerate something. They think of themselves being different not for the reason that they actually are different, but for some other reason.
Myron L. Belfer, MD
The questions go from the parents asking the questions to the patients asking the questions, and parents are often more afraid than the kids themselves. There is a point where decisions about therapy have to be shifted more from the parents to the children even before they’re of legal age. Unless there’s a life-saving, absolutely necessary intervention, it’s hard to tell a 15 year-old you’re going to do something for them or to them because their mom wants you to as opposed to when they’re 2 or 3. Sometimes we have families who say, “We don’t want to do anything now, we want to wait until the child’s old enough to make the decision for themselves,” and we sometimes have to say, “Well, as a parent, sometimes we have to make decisions for our kids and what we think they would want because by the time they’re 16, they may be really angry that you didn’t do it for them when they were 2.” So one of the ways we can help with that is by introducing families to each other so they can talk about the experiences that kids of a similar age or an older age have experienced to know whether that’s something they want to go through or try and change.
Steven Fishman, MD
Everybody is different and it is very hard to generalize. Oftentimes, we see that young teenagers are concerned about their appearance and things needed to function. As these kids get older, they have adapted; they accept things and they are a little bit less critical, but they are often still a little self-conscious.
Joseph Upton, MD