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How to talk to your child about PHACE Syndrome
By: Ilona Frieden, MD
We face many challenges as parents. Parents of a child with PHACE need to be able to help their child to understand what PHACE is and how it affects them. I don’t think there is one “right way” to do this but there are a few tips that I’ve learned over the years that I hope will prove helpful to you. First and foremost, any discussion needs to be appropriate for your child’s age and stage of development. For those with visible hemangiomas, I advise parents to give their child specific words to use in case they are asked about visible skin differences. Beginning at about 3 years of age (or perhaps a little earlier for precociously verbal children), children should be taught that the visible skin changes are a “birthmark,” and as they get older, a “hemangioma”. Having a name to describe what they have is very helpful because if someone asks about their hemangioma, they can say “It’s a birthmark. I was born with it.” This gives them more control over the situation than if they don’t know what to say or have to look to you as their parents to provide answers.
For most children, knowing that they have PHACE syndrome is not necessary until several years later because many of the other components of the syndrome are not visible. However, if there are specific aspects that are visible to others, again, very simple language to describe this can be helpful. For example, “You were born with some differences in your ears, so one ear doesn’t hear as well”. If children want to know why they have PHACE or these differences, it is important to be honest and say “we don’t know why you have this” or “the doctors haven’t figured out what causes PHACE but hopefully one day they will figure it out”. Another aspect of having conversations with your child about this topic is to emphasize that lots of people are born with things that make them a little different from someone else. It’s helpful if your family knows someone else with a congenital problem, disability, or medical issue, to consider using this as an example.
Remember that the conversation about PHACE will evolve over time. It is important that to signal to your child that you are comfortable talking about PHACE and bringing it up every year, or more often if needed, to see if they have questions. In having this conversation, a good starting point is to find out what they know or think is going on. A good time for having a check-in conversation is before or immediately after a doctor’s visit for a PHACE-related problem. Don’t feel the need to explain too much. Many kids want to know to a point, but not in too much detail, because this can make them confused or anxious. Some very practical information about this topic is available at the following link: https://www.aboutkidshealth.ca/Article?contentid=1141&language=English
Parents can have intense emotions such as grief, anger, or feeling overwhelmed, particularly in the early phases of a diagnosis of PHACE. It is important to find a safe place to talk about these feelings. For many parents, talking honestly with a primary care physician, specialist, or even getting professional help from a therapist about your own fears and concerns can be very valuable. During doctor’s visits, parents often share their concerns about the hemangioma, PHACE, or other medical issues, and their fears about the future for their children. It is important to remember that young children, who may not understand all the words, do pick up on a parent’s emotions and the fear. Once children are older than one year, it’s probably better to talk about highly emotional concerns without your child present. In front of them, try to show acceptance and resilience to the extent you can, so this helps them to have these same qualities. Especially when they are young, your opinion matters more than anyone else. If you model these behaviors, they will be better able to cope with challenges that face them.
Finally, consider reaching out to others. Considering talking to trusted friends or family members. Talking to other parents in the PHACE syndrome community can also be very valuable. If you are able to, consider attending a PHACE family conference where you and your child can meet other people with similar issues and challenges.
Dr. Ilona Frieden is a pediatric dermatologist and a world-renowned specialist in children's skin diseases at UCSF Benioff Children’s Hospital. Dr. Frieden cares for children with a variety of birthmarks and has a special interest in those that arise from abnormal blood vessels, including hemangiomas and vascular malformations. She directs the UCSF Birthmarks & Vascular Anomalies Center. She has authored and co-authored dozens of book chapters and more than 250 peer-reviewed articles, including many on PHACE syndrome. Dr. Freiden is a member of the American Academy of Dermatology, American Academy of Pediatrics, Society for Pediatric Dermatology, American Dermatological Association, Women's Dermatologic Association and International Society for the Study of Vascular Anomalies, and is a member of the PHACE syndrome community Medical Advisory Board.
By: Christine Fox, MD
What are the first signs my child might be experiencing PHACE-related migraine headaches? Are PHACE migraines typical migraines or a specific kind?
Headache is a common problem among children with PHACE syndrome. Surveys of families suggest that many children with PHACE syndrome begin to complain of headaches at an early age and that some children have severe and debilitating headache episodes. Children with PHACE who have headache commonly complain of other symptoms associated with migraine, including photophobia (sensitivity to light), phonophobia (sensitivity to sound), nausea and vomiting. However, there are many different types of headaches and it is important to talk to your doctor to determine whether the headaches your child has could be migraine.
What is a migraine?
Migraine is a complex genetic disorder of the brain characterized by head pain and associated symptoms such as nausea and sensitivity to light or sound. Migraine can also be associated with dizziness, visual disturbances, fatigue, irritability and difficulty concentrating. During a migraine, neuropeptides (brain & nerve chemicals) are released, causing the head pain and associated symptoms.
What are common headache/migraine triggers?
Migraine attacks can be triggered by many things. Common headache and migraine triggers include poor sleep, dehydration, skipped meals, inconsistent exercise, irregular caffeine use and stress. For adolescent girls, there is often a hormonal trigger, with headaches worsening monthly during the menstrual cycle. Migraine sometimes occur in the absence of any identifiable trigger. Keeping a headache journal can help to understand your child’s headache patterns and triggers.
How can magnesium supplementation help my child’s headaches? What type is best? What dose is appropriate?
Magnesium supplements are one of many types of daily oral medications that are used for prevention of episodic migraines. Migraine prevention medications work best when they are used together with lifestyle modifications that include good sleep hygiene, routine meal schedules, drinking adequate amounts of water and avoidance of migraine triggers. All types of migraine prevention medications take time to work, and typically require two to three months of consistent treatment to see a reduction in headaches. If your child is experiencing headaches, it is important to get the right diagnosis to decide the best acute and preventative headache treatments. Talk to your doctor to help choose the medication and dosing that might be most helpful for your child.
What can a parent do to help curb the frequency and/or duration/intensity of a migraine? What are the best “dos” and don’ts” tips for when your child experiences a migraine headache?
The most important thing in curbing the frequency of migraine is regularity. This means regular sleep, regular meals, regular exercise, maintaining good hydration and stress regulation. When a migraine occurs, treating attacks early after the headache starts helps to decrease duration and intensity. However, it is important not to use medications like acetaminophen or ibuprofen more than a few days per week. Some pain medications actually worsen headaches in the long run by causing medication-overuse headaches. Your doctor can help you put together a plan for headache prevention and acute treatment when a headache occurs.
For older children, explaining what a migraine is and teaching how to prevent headaches can be a powerful part of migraine management. Also, remember that having migraine during childhood or adolescence can have an effect on academic and social development. Frequent school absences may cause anxiety about falling behind on school work, and missing out on seeing friends often affects mood. Stress in turn makes coping with headache more difficult, worsening the cycle. Cognitive behavioural therapy, stress management techniques and relaxation strategies can be an important non-pharmacologic part of headache treatment. The American Migraine Foundation has resources to help you speak with your child, your child’s teachers and school about migraines and headache treatment.
Christine Fox is Associate Professor of Neurology and Pediatrics at the University of California San Francisco (UCSF). She is dual board-certified in Vascular Neurology and Child Neurology, with Master's Degree in clinical research. She directs the Pediatric Stroke and Cerebrovascular Disease Center at Benioff Children’s Hospital, San Francisco. In her clinical practices, she cares for children who have had a stroke or are at risk for stroke in the ICU, acute care, and outpatient settings; including children with arterial and cardiac anomalies that can occur with PHACE syndrome. Her research program is focused on childhood stroke and has been supported by the National Institutes of Health, the American Heart Association, and the Pediatric Epilepsy Research Foundation. She co-chairs the Pediatric Stroke Readiness Group for the International Pediatric Stroke Organization and serves on the Executive and Publications Committees of the International Pediatric Stroke Study consortium.
Oral Health in Children with PHACES
By: Brian Hodgson, DDS
Receiving a diagnosis of PHACES can be a very emotionally traumatic event for parents and their children. Especially with newly-discovered syndromes such as PHACES, the uncertainties of treatment and developmental needs as children grow serve to prolong these anxieties. Unknown issues that arise as children develop continue to perplex not only the families, but sometimes even the doctors.
Many PHACES families have reported that their children develop dental cavities and the question has been raised if this is but one more complication that children with PHACES and their families must deal with. This issue was brought to our attention several years ago and we looked at a group of children available at one of the family conferences. Our findings showed that there was a slight increase in the number of tooth enamel (the hard, outside covering of our teeth) defects. Depending on the location and type of defect, this might well increase a child’s risk of developing a cavity there.
Recently we have also seen the occurrence of poor root development on permanent molar teeth in several patients. We do not know the cause of this poor root growth and are currently investigating the possibilities.
While these enamel and root defects appear slightly more often in children with PHACES, the vast majority of children with PHACES have normal teeth. But just because they are normal does not mean that they can’t get cavities and cause a fair amount of distress when they need to be filled.
Dental cavities are not unavoidable. When we look at ancient humans, dental cavities were rare even though there were no toothbrushes or tooth pastes. It is not until humans became farmers and raised crops that we see a rise in the amount of cavities. Crops are our main source of dietary carbohydrates, from which we get many of our calories.
However, with the primitive methods of processing foods, most of these carbohydrates remained difficult to digest. With the beginning of human’s ability to process carbohydrates into more simple forms, we start to see an increase in the number of cavities people get. This was sped up by the sugar trade from India and eventually the Caribbean with the discovery of the Americas, and we see a steady rise in cavities that closely mirrors the rise in sugar consumption.
To help prevent dental cavities, the amount of sugar children eat must be monitored. It is okay to have a sweet treat once or twice a week, but sweet treats or fruit juices several times a day greatly increases a child’s risk of developing dental cavities.
We all want what is best for our children, especially those diagnosed with PHACES or other diseases and conditions. Unfortunately, the ease of use of current fruit juice products makes it so much easier for children to get dental cavities. For those of us who care for children, whether we be physicians or dentists or parents/caregivers, we need to recognize that simple sugars, used inappropriately, can cause just as much pain, anxiety, and treatment costs as any other medical condition. Please do not overlook both at-home and professional dental care as you navigate the complex world in which children with PHACES must live.
Brian D. Hodgson, DDS
Program in Pediatric Dentistry
Marquette University School of Dentistry
When is Repeat Neuroimaging Necessary in Children with PHACE Syndrome?
By: Christopher P. Hess, MD, PhD
Most parents understand why CT or MRI was essential in the initial evaluation of their child with segmental hemangiomas. The very diagnosis of PHACE relies upon the discovery of certain characteristic brain or vessel anomalies that are not externally visible to even the most knowledgeable doctors. Depending on the extent and severity of any underlying anatomic abnormalities, the first imaging evaluation also defines the best short-term treatment planning for their child, whether it is a conservative “watch-and-wait” approach, the prescription of a medical treatment like propranolol or, in some cases, surgical correction of life-threatening disease.
Why and when neuroimaging becomes necessary again at a later point in time is more poorly understood and controversial. After many years of using imaging to study children with PHACE, we now know that brain structural differences are fixed and do not change significantly over time. On the other hand, some types of arterial abnormalities that are discovered in the large arteries inside of the head, neck and/or chest do change over time. Minor fluctuations in the caliber and blood flow through arteries typically mean very little. But major narrowing of arteries that significantly impede the flow of blood from the heart to the brain or other parts of the body carries an increased risk of serious outcomes, including stroke.
More work is necessary to define which arteries are most likely to change in caliber over time in a child diagnosed with PHACE. It is accepted now that arteries that are normal on initial imaging, including normal anatomic arterial variants which occur with higher frequency in children with PHACE, do not change over time. In contrast, arteries found to be severely narrowed on initial imaging studies appear to be at the highest risk of growing even more narrowed over time. It is thus recommended that children who have severe narrowing of the carotid or the intracranial arteries undergo repeat imaging at 6-12 months after the initial imaging exam, even if it requires general anesthesia. For children diagnosed with dysplastic or tortuous arteries without narrowing, or minor narrowing unlikely to impede blood flow, imaging can be deferred to a later point in time (ideally into early adolescence, when MRI can be done without anesthesia).
In order to avoid unnecessary exposure to radiation, MRI of the brain, along with MR angiography of the brain and neck, is recommended instead of CT for imaging in children. It is important to emphasize that in all children diagnosed with PHACE, repeat imaging may also be indicated if your child ever develops any new worrisome clinical symptoms (such as seizures or weakness).
Christopher P. Hess, MD, Ph.D. is Professor and Chairman of the Department of Radiology and Biomedical Imaging at the University of California, San Francisco. As a clinical neuroradiologist, he has studied images from around the world in children with PHACE to understand the origins of arterial disease and define their implications for treatment and for childhood development. A fellow of the American Institute for Medical and Biological Engineering, he has published more than 150 papers and lectures nationally and internationally on neurovascular disease. Dr. Hess is a member of the American Society of Neuroradiology, the Radiological Society of North America, and the International Society for the Study of Vascular Anomalies. He is also a member of the PHACE Syndrome Community Medical Advisory Board.
Why do researchers need parents’ DNA (in addition to the DNA of my child with PHACE) to help figure out the cause of PHACE syndrome?
The cause of PHACE syndrome has been a challenge to discover, but researchers still believe there may be change in the DNA that causes PHACE. Because there have been no families with multiple individuals affected, researchers believe there is a new change that happens in some, but not all of the cells of the children with PHACE. These changes are identified by looking for new changes that are present in the affected child’s blood or tissue, but not present in the parents. That is why the parent’s DNA is also needed to help see these changes (see Figure).
The PHACE registry is for people diagnosed with PHACE, LUMBAR and other, hemangioma-related syndromes, and performs a genetic analysis. tell us this one of the most important thing families can do to help support research and find the answers we're all seeking
Consider joining the PHACE registry