Plexiform Neurofibromas: Here’s What You Should Ask Your Child’s Doctor

“Plexiform neurofibroma” and “neurofibromatosis type one” (NF1) can be difficult to say. But it can be even more difficult to wrap your head around what those big words mean for your child’s future. You probably have a million questions and concerns floating around in your head, if only you knew how to ask them. After all, you don’t know what you don’t know.

But you don’t have to figure this out alone. We asked neurosurgeon Ajit Krishnaney, MD, to share some of the questions he’d want to ask in your position. Here’s what he said.

1. Does my child have neurofibromatosis type 1?

Let’s start by retracing your steps. There are no absolutes in medicine. And everyone’s journey to a diagnosis is a little different. But Dr. Krishnaney says the word “neurofibroma” isn’t usually where these conversations start. At first, all you (and your providers) probably knew was that your child had a mass.

Eventually, through biopsies, imaging and other tests, your child’s providers learned the mass was a neurofibroma: A tumor that forms along the nerve cells. We’re focusing on plexiform neurofibromas here, which are usually more serious. But there are other kinds of neurofibromas, too. People living with NF1 often have multiple types.

A plexiform neurofibroma diagnosis is a step in the right direction, but it’s only a step.

The next step, Dr. Krishnaney says, is to ask your provider: “Does my kid have neurofibromatosis type 1?” It’s possible to have a plexiform neurofibroma without having NF1. But it’s extremely rare. Your provider will confirm an NF1 diagnosis through imaging, physical examination and genetic testing.

Once you know for sure that your child is living with NF1, it’s time to establish a team of experienced providers. These caregivers will work together throughout your child’s life to ensure they get the support your child needs to manage their chronic (lifelong) condition.

2. Who will make up my child’s NF1 care team?

NF1 is a rare chronic illness that can be mild, moderate or severe — even life-threatening. But the mildest cases still need careful monitoring. To do that, you need to build a relationship with a neurologist or neuro-oncologist who’s an expert in the condition.

NF1 is a systemic disorder, which means it can affect many different parts of your body. And no one provider can address every tumor or complication. To get your child the help they’ll need, you’ll need a care team. A care team brings specialists from many different kinds of medicine together to manage your child’s symptoms.

There isn’t a cure for NF1. And while you can treat many plexiform neurofibromas with surgery, medication or both, there’s no way to prevent them. “Everything we do as a team is designed to help your child live with this condition for their whole life,” Dr. Krishnaney notes. “Think of it as a partnership. We’re here to work with you to help maintain your kid’s quality of life for as long as possible.”

A good care team can be hard to find, especially when you’re dealing with a rare condition. That’s why Dr. Krishnaney recommends getting referred to a medical institution with a neurofibromatosis center or clinic.

“You want your child to have a team that is up to date on the science and experienced in dealing with NF1 and other kinds of neurofibromatosis,” he clarifies. “They can do more in the realm of early intervention, which could make a big difference as your child gets older.”

3. Are there tumors elsewhere?

If your child’s mass is a plexiform neurofibroma, they probably have NF1. And if they have NF1, there’s a pretty good chance they have other tumors, too.

The earlier you catch a neurofibroma of any kind, the better. So, Dr. Krishnaney recommends asking what kind of imaging will be done to find other tumors.

4. Are my child’s plexiform neurofibromas cancerous?

The majority of plexiform neurofibromas are benign, meaning they’re noncancerous. These tumors mostly cause problems by pressing on other body parts. But a small percentage of neurofibromas (plexiform and otherwise) do become malignant.

Scary as these questions are, you need to ask your child’s provider:

• Do we need to biopsy the tumors to make sure they aren’t cancerous? The answer, Dr. Krishnaney says, depends on what the imaging looks like. It also depends on your child’s symptoms.
• How will we follow my child’s neurofibromas to make sure they don’t become cancerous — or if they do, that we catch them early enough to treat them? “This is why having an experienced, multidisciplinary care team is so important,” Dr. Krishnaney emphasizes. “They’ll understand the protocols and create an evidence-based plan of attack.”

5. What are the available treatment options?

Everybody with NF1 is a little different. So are their tumors, plexiform and otherwise.

Some neurofibromas never grow. Others are extremely aggressive. Some are operable. Others aren’t. So, there’s no one way to treat NF1. You’ll need to talk to your child’s care team to determine:

• Which (if any) tumors need treatment right now
• Which (if any) neurofibromas are operable
• If your child is eligible to be treated with a medication to slow to stop tumor growth

If your child has a cancerous neurofibroma, you’ll also want to ask if they’re a good candidate for chemotherapy or radiation.

6. Is my child’s condition hereditary?

If your child has NF1, there’s a 50% chance it’s the result of a de Novo genetic mutation (change). In other words, something about their genetic code is different from the rest of their biological family’s. That means there’s a much lower risk that their siblings and other branches in their family tree have the condition.

The other 50% of people living with NF1 inherit it from a biological parent. NF1 is an autosomal dominant trait, which means they had a 50-50 chance of getting it. It also means that there’s a good chance other people in your biological family have the condition.

If you have other children, Dr. Krishnaney says your next question is: “Do I need to have my other kids and family members checked?”

To answer that question, you’ll be referred to a geneticist. They’ll look at your biological family tree and determine who needs to undergo genetic screening.

“We know that NF1 runs in families,” he continues. “So, it may not be your other kids that are affected. It might be your nieces or nephews.”

It’s important to get this information for two reasons:

• It could mean an earlier diagnosis (and earlier treatment) for other members of your family
• It could impact family planning conversations moving forward

It’s OK to ask tough questions

As a parent of a child with a rare chronic illness, it’s natural to want to learn everything you can about it. And knowledge is power. But Dr. Krishnaney warns, there’s a lot of misinformation out there.

“You need to get your information from the right sources,” he states. “That's why developing trust with your child’s neurologist or neuro-oncologist is important. They will be your main touch point. They’ll guide you through all the information, introduce you to reliable resources and answer your questions.”

The questions we’ve shared here are a great starting point. But you’ll have plenty more as your child grows up. We hope you’ll be comforted to know that you aren’t the only one asking questions. Doctors, researchers, fellow caregivers and more are equally motivated to get answers. And they’re here to help.