Raising a child with or at risk for cavernous malformations

Frequently Asked Questions

This material is intended for informational purposes only and does not replace consultation with a knowledgeable physician.

Note: We use the term “cavernous malformation” as a synonym for cavernous angioma, cavernous hemangioma, and cavernoma. Venous malformations (venous angioma, DVAs) and arterio-venous malformations (AVMs) are different types of vascular malformations and information for these conditions is not included here.

My infant can’t tell me when she has a headache. What are the symptoms of a cavernous malformation hemorrhage in an infant?

It is difficult to determine when an infant is having trouble with cavernous malformations versus when they are having a normal childhood illness. Those of us who have experienced raising an infant with this illness can identify with the anxiety this engenders. In general, there are several ways to distinguish whether a behavior warrants a trip to the pediatrician versus a trip to the ER or the neurosurgeon.

If your baby starts to demonstrate unusual irritability and a new onset sleep problem without fever, this may be a first sign. The baby may be having a normal reaction to teething, may have a virus, an earache, or any number of other childhood illnesses. However, pressure from a cavernous malformation bleed is greater when a baby is sleeping because gravity is not helping to move blood away from the head, making frequent awakenings common. Babies also become irritable while a cavernous malformation is bleeding much as an adult would. Although not a reason to panic, a trip to the pediatrician would be a good choice to help identify the source of the baby’s symptoms.

There are more serious signs of hemorrhage that warrant a call to the neurosurgeon and perhaps a trip to the ER. Signs to watch include:

1. Your baby loses a function that she could once perform such as rolling over, holding up her head, crawling, or babbling.
2. Changes in your babies’ eyes: Keeping tabs on your baby’s eyes is important – look for a pupil that is suddenly larger in one eye than the other (unequal pupils), eyes “jumping” left to right or up and down when the baby is trying to look straight ahead (nystagmus), or both eyes no longer looking in the same direction (strabismus).
3. A first tonic-clonic seizure (see below for description) not related to fever.
4. Feeling your baby’s soft spot (fontanel) and becoming familiar with how raised it is can help you monitor her. If the fontanel becomes raised above where it usually is, this may be a sign of increased pressure in the brain.
5. If your baby experiences projectile vomiting, particularly along with any of the other signs, it is important to call the neurosurgeon. Projectile vomiting is vomiting with some force behind it. For example, if your baby is in her rear-facing car seat and vomits, it’s probably not projectile vomiting if she’s only soiled the front of her clothes. If she’s soiled anything beyond her car seat you would want to suspect projectile vomiting. Also, if your baby vomits in her bed and does not have other symptoms of illness, this would warrant a call to the doctor.
6. If your baby holds her head to one side or the other and appears to be unable to straighten her neck, this is called torticollis and may indicate a hemorrhage in the area of the brain called the posterior fossa.
7. Finally, if your child loses consciousness, you will want to call the neurosurgeon and emergency services.

What are the symptoms of a cavernous malformation hemorrhage in a child over 2?

Please read the symptoms for children above, because many of these continue to apply to older children. Additionally, pre-school age and older children may be able to communicate headache pain associated with a cavernous malformation. Some people experience a pain they describe as brief, cold, and sharp going through their head. Others have intense ongoing pain. Headache, like seizure, often accompanies cavernous malformation even if there is no new bleeding.

Your child may exhibit new and unusual irritability, similar to what you might notice when they are becoming ill with influenza or other more serious contagious illness. The irritability may go on for days without evidence of other symptoms. In the absence of any of the other warning signs, this may not indicate a hemorrhage, but it is something to note.

Your child may have a new onset sleep disturbance, waking up with head discomfort or projectile vomiting. A pre-school age child may not be able to tell you about head discomfort, but may wake up multiple times over the night. Pressure from a cavernous malformation bleed is greater when a child is sleeping because gravity is not helping to move blood away from the head, making frequent awakenings common.

A child who had previously not experienced seizure may have a seizure or those with seizure disorders may experience a worsening that can’t be attributed to outgrowing medication doses.

Many people who have cavernous malformation hemorrhages experience vision problems or dizziness as an initial symptom. Your child may complain of seeing double or having blurry vision. They may become so dizzy that they can not walk. Some anti-seizure medications have these symptoms as side effects. It is important to rule this out.

A child may be able to communicate to you that they are experiencing tingling or numbness in a part of their body, most often in arms or legs. You may also notice speech problems – difficulty finding words, slurred speech, or difficulty understanding oral instructions.

Should my child have any medication restrictions?

As with adults, children with cavernous malformations should not be given aspirin or other NSAIDs such as ibuprofen or naprosyn products. These products reduce the ability of blood to clot, worsening any bleed that might occur. For aspirin, this effect lasts long after the aspirin has left the child’s system. For the same reason, some physicians advise against the use of valproic acid (Depakote or Depakene) as an anti-seizure medication for patients with cavernous malformations. Other drugs that have drug thinning properties such as warfarin (Coumadin) or heparin should never be used.

Some controversy exists regarding the safety of many of the medications used to treat ADHD because most increase blood pressure and heart rate, if only slightly. High blood pressure is thought to be associated with increased cavernous malformation bleeding, but the impact of the small blood pressure increase caused by prescription stimulant use is not known.

What are the symptoms of a seizure disorder?

While most of us think of a seizure as a very dramatic event in which a person becomes unconscious, falls to the ground, and engages in a few minutes of jerking movements, a seizure can be quite subtle. There are two classes of seizure – general and focal. All seizures caused by cavernous malformations begin as focal seizures, but some may generalize from there.

A focal seizure can be either a partial motor or partial complex seizure. With either, there is no loss of consciousness. A child may have jerking in a single body part that is not in their conscious control, may have odd mouth movements like lip smacking, may pick at clothing, or may have odd movements. In some cases, a child may be overwhelmed by a sudden strong feeling that comes on without explanation.

Generalized seizures include tonic-clonic seizures (also known as grand mal) and absence seizures. With tonic-clonic seizure, there is a loss of consciousness and a loss of body control. The child will not be able to stand, will exhibit strong jerking movements, and may lose bladder control. With absence seizure, there is a loss of consciousness, but no loss of body control. These are often called “stop and stare” seizures because a child may simply stop their activity and stare into space for thirty seconds or more.

Can my child be treated with anti-seizure medication?

Yes, children are treated with anti-seizure medication. A number of common anti-seizure medications are approved for use in children and are available in liquid, sprinkle or chewable form.

Most anti-seizure medications are designed to be most effective for one or two specific types of seizure. Your child’s doctor should discuss with you the medication options for your child. Every anti-seizure medication has side effects. Your child may need to try several medications before finding the one that is effective and has a tolerable number of side effects. Side effects tend to be worst when first starting a medication, during periods when the dosage is being increased, and during the times of the day when the blood concentration of the medication is at its peak. Common side effects include sedation, nausea and stomach distress, dizziness, vision problems, attention problems, mood disturbance, and balance/coordination problems. Not every anti-epileptic medication causes every side effect. Other more severe side effects are possible. It is important to discuss the possibility of side effects, both minor and severe, with your child’s doctor before beginning treatment.

Should my child have any activity restrictions?

If your child has seizures as a result of cavernous malformations, she or he may be advised about a number of activity restrictions. The following table lists the comparative risks of activities for children with epilepsy and can be found in “A Guide for Parents of Children with Epilepsy” produced by Shire Richwood, a pharmaceutical company. We have adapted some entries to make this table appropriate for children with cavernous malformations whether or not they have epilepsy.

Although head trauma has not been shown to be associated with cavernous malformation hemorrhage, most physicians recommend that children with cavernous malformations stay away from contact sports. Children should also be diligent about wearing a helmet in other situations in which there is an increased chance of head injury, such as skateboarding, biking, scooter riding, or inline skating. Many physicians also encourage helmet use while snowboarding or skiing.

It is unwise to allow your child to spend extended periods upside down. This can increase blood volume and venous pressure in the brain. Following this restriction may limit participation in gymnastics or in the use of some playground equipment.

Cavernous malformations run in our family. When should I have my child tested for the illness?

This is a very individual decision, but physicians often recommend to their patients that children be screened before school age. Some parents have their children screened in infancy because sedation is sometimes easier with babies, babies won't remember the MRI, and parents can be relieved of the worry if the child doesn't have the illness.  Some parents wait until their child is old enough to lie still for the MRI without sedation.  Others never have their child screened unless there are symptoms because they want their kids to have as "normal" a childhood as possible.

Screening as early as possible and at minimum before school age is recommended for several reasons. First, children who are identified with cavernous malformations can be monitored, and in some cases, a cavernous malformation can be removed before it causes irreparable damage or death. Second, early identification can allow parents to work with a school system to create a plan in case of a medical emergency. Second, cavernous malformations may play a role in learning or behavior problems a child might experience. Knowing whether a child has the condition can help in making decisions about how to address these problems. Third, parents are better prepared to make informed decisions about a child’s participation in activities such as contact sports. Fourth, teachers may notice symptoms of neurological deficit before parents notice them. Knowing the diagnosis and what to watch for can help a teacher to become an extra set of eyes for your family.

Clinical diagnostic blood testing is available for three genetic mutations that can cause the illness. This means that a family will be able to submit a child’s blood or cheek swab sample to a lab rather than have the child undergo an MRI to determine if there is a mutation. The affected parent should have genetic testing first to determine the specific mutation before submitting the child’s sample. More information can be found under “Genetic Testing” on our website.

How is an MRI for a child different from that for an adult?

Children who are unable to remain still for the 30-60 minutes required for an MRI will require some kind of sedation before the procedure. Your child will either be sedated to the level of sedation analgesia, also known as conscious sedation or twilight sleep, or to the deeper level induced by general anesthesia. Most hospitals will try sedation analgesia first, but some children become agitated by or are unable to tolerate the medications used for sedation analgesia. If this is the case, subsequent MRIs are performed using general anesthesia. The following information is from a pamphlet published by The American Society of Anesthesiologists entitled “Anesthesia and You: Sedation Analgesia”:

Although once referred to as “twilight sleep,” over the past few years the term “conscious sedation” has become popular to describe a semi-conscious state that allows patients to be comfortable during certain surgical or medical procedures.

Sedation analgesia can provide pain relief as well as relief of anxiety that may accompany some treatments or diagnostic tests. It involves using medications for many types of procedures without using general anesthesia, which causes complete unconsciousness.

Sedation analgesia is usually administered through an intravenous catheter, or “I.V.,” to relax you and to minimize any discomfort that you might experience... Oftentimes, sedation analgesia can have fewer side effects than may occur with general anesthesia. Frequently, there is less nausea from sedation techniques, and patiens generally recover faster after the procedures.

LEVELS OF SEDATION

Although the effects of sedation are better described in terms of “stages” or being part of a “continuum,” sedation is usually divided into three categories:

1. Minimal sedation or anxiolysis
2. Moderate sedation
3. Deep sedation

During minimal sedation, you will feel relaxed, and you may be awake. You can understand and answer questions and will be able to follow your physician’s instructions. When receiving moderate sedation, you will feel drowsy and may even sleep through much of the procedure, but will be easily awakened when spoken to or touched. You may or may not remember being in the procedure room. During deep sedation, you will sleep through the procedure with little or no memory of the procedure room. Your breathing can slow, and you might be sleeping until the medications wear off. With deep sedation, supplemental oxygen is often given.

For both general anesthesia and sedation analgesia, your child will not be allowed to eat or drink for a number of hours before the procedure.

Should I have any concerns about the use of CT scans for my child?

CT scans do expose a child to low levels of radiation. It is important to know if your hospital is able to calibrate their CT scanner for use with children. Children are more likely to have long term effects from radiation exposure, and calibration allows a more focused, lower level of radiation to be used to obtain the same result. CT scans should be used only when there are symptoms or circumstances that outweigh the possible long term risks inherent in radiation exposure. There are no official guidelines at this time concerning how often is too often for a child to be exposed to a CT scan.

CT scans are able to detect a gross change in the size of a cavernous malformation. They are also very good at detecting fresh blood from a new bleed. They can be preferable to MRI in certain circumstances. A CT scan usually takes only 5 minutes, and children usually do not require sedation. This can be much easier on the child. In cases where a bleed requiring emergency intervention must be ruled out, a CT scan may be the most appropriate technique.

My child seems tired most of the time. What could be causing this?

There are a number of factors that may be causing your child to be fatigued:

1. Research has shown that fatigue is a common long term after effect of stroke and of mild traumatic brain injury. There is no reason to believe that this would not be the case for cavernous malformation hemorrhage. The mechanism behind the fatigue is not understood, but the fatigue itself can feel debilitating to those who experience it. Making sure your child gets enough rest at night and has opportunity for rest during the day is essential. A 504 plan to address fatigue at school may be needed. See our webpage on Special Education for information about 504 plans. If your child has difficulty sleeping at night, another common after effect of brain trauma, it would be wise to consult his neurologist for suggestions.
2. Children with seizure disorders that emanate from the parietal lobe or with cavernous malformations in the pons have a lower quality of sleep than children without seizure disorders. This means that even if a child has what appears to be sufficient sleep, the lower quality of their sleep will make them feel less rested.
3. Most anti-seizure medications have sedation as a side effect. If your child seems debilitated by this, speak to his neurologist to see if there might be an alternative medication.
4. Children with even mild muscle weakness or decreased coordination resulting from a cavernous malformation bleed often have reduced physical stamina. It simply requires more energy to use legs that feel heavy or that won’t do what the child asks of them.

My toddler has deficits as a result of cavernous malformation. Are there any programs that can help us?

Most states offer early intervention programs that serve children from birth to age 3. The criteria for entering these programs can vary from locality to locality. Most often, children can receive occupational, speech, and physical therapy at no cost to the family and can participate in socialization programs such as playgroups. Early intervention services that must be provided by each state can be found in Part C of the Individuals with Disabilities Education Act (IDEA). You can read more about IDEA at http://www.house.gov/ed_workforce/issues/109th/education/idea/ideafaq.pdf. You should be able to find your local early intervention service provider by calling the Special Education Coordinator for your school district.

My preschool child has deficits as a result of cavernous malformation. How and when should I tell our school district?

Many children can begin receiving special services through their school district at the preschool level. Children can begin in-school programs at the beginning of the school year in which they will turn 3. In other words, your child may begin receiving services at age 2, if she will be 3 at some time during that school year. Receiving services through the school district requires an eligibility determination and the development of an Individualized Educational Plan (IEP). For most school districts, this takes months to accomplish. Beginning the process by contacting the school in January for a September enrollment is not too early. The services your child receives will be determined by the IEP. For a new parent entering the system, it’s a good idea to have some one who knows the rules of the process coach you and even attend meetings. This may include a parent advocate, a therapist from your child’s early intervention program, or an attorney. Please see our Special Education page for more information about developing IEPs.

My child is hyperactive and has attention problems. Could this be from his or her cavernous malformation?

ADHD is a label for a cluster of symptoms, but does not explain the cause of the symptoms. Any number of disorders can cause ADHD or ADD. Any brain trauma, including that from a cavernous malformation hemorrhage, can cause changes in attention and activity level.

Stimulant medications do work for many children who have ADHD as a result of brain trauma. As was noted above, some controversy exists regarding the safety of many of the medications used to treat ADHD in children with cavernous malformations because most increase blood pressure, if only slightly. It is not known whether increased blood pressure contributes to cavernous malformation bleeding, but many physicians encourage caution.

Behavioral and environmental interventions can also be used to help your child in the classroom. A pediatric neuropsychologist, if you have access to one, can help you to design a program that could work for your child. Otherwise, a school psychologist or child psychologist with a background in working with children with ADHD can help. The most common obstacle to implementing a successful behavioral intervention is the inability of the teacher to carry out the intervention. This can happen for many reasons including a large student to teacher ratio or a lack of understanding/skill. It is important to advocate for your child with the school district so that she receives the needed assistance.

If one is available to you, a special private school that targets children with ADHD or LD can provide a learning environment geared to your child. These schools usually feature small class sizes, individualized instruction, and special needs accommodations as an integrated part of the learning program. With a letter from a physician indicating the medical necessity of the placement, tuition for this kind of private school can be tax deductible as a medical expense. With a great deal of advocating, and perhaps the help of an attorney, you may also be able to receive partial tuition compensation from your school district.

What should I include in the emergency plan that I give to my child’s school and caretakers?

An emergency plan is unique to each child, but some common features include:

1. A list of possible symptoms with appropriate responses: for example, unusual fatigue might require a note home; projectile vomiting or a seizure might require a call to a parent; a loss of consciousness might require a call to a parent and to emergency services
2. A list of allergies (required by schools anyway) and medications your child should not take (NSAIDs)
3. A list of people who can be reached and could be at the school within an hour of the call. These individuals should have written permission to make decisions about your child’s care.
4. A list of physicians and hospitals treating your child.
5. A list of current medications; this should be updated with each medication change.
6. A list of restricted activities, if any.

If you do allow someone other than you or the other parent of your child to make decisions regarding your child’s medical care, you will need to give each of those people a signed letter indicating your permission. They will need to take this with them to a hospital or doctor’s office.

How do we transition from pediatric care to adult care?

Transitioning to adult care can be challenging emotionally for many children. This transition usually occurs after high school when so many other changes are affecting your child. It is difficult to leave doctors and hospitals that your child may have known all of his life. There are several things you and your doctor can do to ease the transition:

1. Have your pediatric neurologist or neurosurgeon talk to your child about the transition and about the new doctor, if they are known to each other. Acknowledging the anxiety and sense of loss can provide a validation that makes the transition easier. If the pediatric doctor knows the adult doctor, your doctor’s expression of confidence in the referral may also reduce anxiety.
2. If possible, go to your child’s first appointment with her new physician. If your child will be away at college and seeing the doctor on her own, try to arrange a phone conference either during the appointment or soon after – your child may need to sign a release to allow you to talk to her doctor. Seeing or talking to the doctor will give you some insight into any complaints or misgivings your child expresses.
3. If your child has serious concerns about the new doctor, allow for the possibility of seeking another adult neurologist or neurosurgeon. Giving your child some sense of control over the decision may help her to make the transition.
4. If your child had been treated at a children’s hospital, call the new adult hospital to set up a tour of the facility for you and your child. Seeing a hospital room and knowing how to get to the imaging department and EEG before they are needed can reduce anxiety and resistance.

I am writing my will – what do I need to consider?

If your child has special needs or if you think that there is a chance that your child might become disabled in the future, it is essential to always have a will in place. What most people do not realize is that it may be best to prevent your affected child from directly inheriting any of your assets. As of this writing, if your child has assets in excess of $2000, he may not be eligible for government benefits such as Medicare/Medicaid or SSI. There are several types of trusts that can be established as alternatives to direct inheritance. You should discuss these with an attorney who is familiar with estate planning. Additionally, well-meaning relatives may have written your child into their will – this should be addressed as soon as possible in order to avoid jeopardizing your child’s benefits.

I have to change jobs and my new health insurance has a pre-existing claims clause that will not cover my child’s illness for one year. What can I do?

Perhaps the best place to find information about pre-existing condition exclusions is the US government’s HIPAA site. There are many circumstances in which it is not legal for a medical insurance carrier to exclude a condition. You can find this information at http://www.dol.gov/dol/topic/health-plans/portability.htm, the Department of Labor’s HIPAA page.

Can I apply for SSI for my child?

For a child to qualify for SSI, the family must meet income eligibility criteria. Check with your local SSA office to learn the exact income levels that are eligible. If qualified your child will be receiving Supplemental Security Income (SSI), not Social Security disability insurance even though the determination will be made based on your child’s disability.

According to the Social Security Administration website, a child “will be considered disabled if he or she has a physical or mental condition (or a combination of conditions) that results in ‘marked and severe functional limitations.’ The condition must last or be expected to last at least 12 months or be expected to result in the child's death. And, the child must not be working at a job that we consider to be substantial work.”

The Social Security Administration will determine if the criteria are met using by comparing your child’s functioning to that of children who have any of 100 conditions they consider disabling (such as cerebral palsy, mental retardation or muscular dystrophy). To do so, they will ask for information from almost any professional who knows your child, i.e. doctors, teachers, therapists, and social workers. If they can not determine your child’s eligibility from this, they will ask to evaluate your child in person. If she is found eligible, your child will be re-evaluated every three years if her condition is expected to improve to confirm continuing eligibility. If your child qualifies for SSI, it is likely that she will also qualify for your state’s Medicaid program.

To learn more about SSI and your child, visit Benefits for Children with Disabilities at http://www.ssa.gov/pubs/10026.html.