Neurofibromatosis Treatment
Our approach
Neurofibromatosis patients can face many complications, including hearing and vision problems, learning disabilities and pain caused by tumors. It¡¯s important for patients to get their care from a team of experts who can handle all of these challenges.
That¡¯s where MD Anderson can help. For children with NF, we have a program that works with schools to develop an educational plan and find ways to help them learn. Adults and children both can see specialists in treating tumors that affect the eyes and the ears, as well as surgeons who can operate on tumors on practically any part of the body. We also have specialist in managing NF-related pain and we offer genetic counseling for adult NF patients who want to start a family.
And if a tumor does become cancerous, our NF patients have access to all the care at one of the nation¡¯s top cancer centers.
Neurofibromatosis treatment
Neurofibromatosis is a progressive disease. Patients need to be monitored on an ongoing basis to manage their specific symptoms. Treatment for the diseases depends on the location and type of tumor(s) present.
- For growing pediatric brain tumors, the standard treatment is chemotherapy, but surgery and radiation may also be required.
- Peripheral nerve and spinal tumors are treated with surgery, and malignant nerve and spinal tumors are treated with a combination of surgery, radiation and chemotherapy.
- Treatments of bones of the arms and legs and for scoliosis is managed by our Orthopaedic Center.
- NF-related growth disorders are seen by our endocrine service.
- Other, less frequent issues are managed by specialists throughout the hospital.
Since NF is often diagnosed in children, the Children's Cancer Hospital has developed a program that gives these patients with educational support. The Children's Cancer Hospital also provides a pediatric neuropsychologist to determine any learning disabilities the patient may be facing.
The most innovative treatments for neurofibromatosis are offered as part of clinical trials, which are closely monitored studies to test the safety and effectiveness of new treatments. You can also visit our clinical trials database or speak to your doctor to see if you or your child are eligible.
Learn more about neurofibromatosis:
What is neurofibromatosis type 1?
Neurofibromatosis is a collection of three different genetic disorders that cause fibrous tumors to form around nerves in the body. Neurofibromatosis type 1 (NF1) is the most common of the three disorders.
We spoke with , director of MD Anderson¡¯s neurofibromatosis program, to learn more about NF1.
What is neurofibromatosis type 1?
NF1 is a genetic mutation of chromosome 17 that can be inherited from a parent or can develop randomly in an individual. It causes tumors to form in the nervous system. Roughly 1 in 3,000 people carry this genetic mutation at birth.
What are the symptoms of neurofibromatosis type 1?
There¡¯s a broad range in severity of symptoms for patients with NF1. We may not see the symptoms right away, and some people won¡¯t even know they have it. There may be skin markings, such as caf¨¦-au-lait spots, which look like large freckles on the skin. There may also be neurofibromas, which are small benign nerve tumors that appear as little bumps on the skin. Dystrophic scoliosis is also associated with NF1. This is when the spine is unformed or abnormally formed in a twisted position, resembling a corkscrew.
Abnormalities in children can occur in the long bones, particularly the legs, and sometimes the arms. Often a child who begins to walk freely suddenly has a curved bone in their leg that fractures. This could lead to amputation of that limb, though that¡¯s rare. In newborn babies and in the first couple of years of life, we¡¯re looking for bone problems and scoliosis. We¡¯re also looking for tumors of the optic nerve (from the eye to the brain); 15% of children with NF1 will have an optic nerve tumor. If they¡¯re unrecognized and allowed to grow, they can damage a child¡¯s vision. The tumor can also grow within the eye socket, begin to expand and push the eye out. This is called proptosis or bulging eyes. If we¡¯re not paying close attention, we might miss one of those optic nerve tumors that can become problematic, usually around age 2 or 3.??
How is neurofibromatosis type 1 typically diagnosed?
We often do a physical exam, or we can conduct genetic testing to diagnose NF1. Half of all cases will have a negative family history. This means the child or young adult diagnosed doesn¡¯t have a family history of the disease and that the NF1 is likely the result of a spontaneous mutation. The features of neurofibromatosis begin to reveal themselves as people grow through childhood. While diagnosing a patient during our first meeting, we spend a lot of time looking through the patient's physical characteristics and trying to get some idea if it will be a mild or severe case.
There are also situations where we¡¯ll see a child and start to look closely at the parents and realize a parent has NF1, too. This is important because we can get an idea of where things may go for the child. Even more importantly, we can make sure that the parent is evaluated and is not at risk for some underlying, less obvious problems that could be related to NF1.
How often do neurofibromatosis type 1 tumors become cancerous?
Tumors that affect vision are usually not malignant. They are low-grade types of brain tumors. What makes them dangerous is their location and ability to grow slowly and damage structures around them.
But in some cases, a neurofibroma can transform from a benign lump around the nerves to true cancer. That¡¯s a type of sarcoma called Malignant Peripheral Nerve Sheath Tumor (MPNST). This type of cancer needs to be treated quickly. If we can diagnose it early, frequently the tumor can be removed to spare the nerve and the function of that limb. Between 5% and 10% of patients with NF1 will develop a malignant tumor at some point in their lives. More rare tumors, like tumors of the adrenal gland, can cause a drastic rise in blood pressure and be damaging as well. In rare cases, NF1 can also be associated with other cancers, such as breast cancer or leukemia. We're always on the lookout for benign tumors that become cancerous. That's part of what we do every time we visit with a patient, whether it's a child or an adult.???
What are the treatment options for neurofibromatosis type 1?
?If we detect a problem with a bone or formation of the spine, we immediately refer those patients to centers with highly experienced pediatric orthopedic surgeons.
NF1 tumors can affect the nerves, as well as the tissues surrounding and/or connected to the nerves. During adolescence and sometimes earlier, neurofibromas can appear in the skin. Fat cells, elastic cells, blood vessels and tiny nerves will all be involved in these overgrowth syndromes. They¡¯re almost always benign, but sometimes children and adults will get plastic surgery to remove them.
We have targeted therapies that are designed to slow and reduce the growth of neurofibromas deep inside the body, but they¡¯re not as effective for the skin. We¡¯re doing clinical trials where we use this same type of medication in a cream or gel and patients can rub them on the neurofibromas to try to shrink them. I¡¯m hoping the Food and Drug Administration (FDA) will approve these medications for the public in the next couple of years.
What are common long-term side effects for people with neurofibromatosis type 1?
The most common issue in children is brain function. About 60% of children with NF1 will have ADHD, which is often coupled with dyslexia. Additionally, about 40% will struggle with math skills. And then when the child starts to print and write, dysgraphia will complement dyslexia. Children with NF1 often struggle with these learning disabilities. Their brains work differently, and they need to learn differently. As part of our neurofibromatosis program at MD Anderson, we developed a school intervention program. After we test the children with a neuropsychological assessment to figure out their strengths and weaknesses, we have an educator who goes to the school and helps advocate for the appropriate modifications for that child. This has been extremely helpful for our patients.
Why should patients choose?MD Anderson for their neurofibromatosis type 1 care?
We have an extremely comprehensive neurofibromatosis program. Many of us have been working together for 20 years or more, and we have the knowledge and expertise in almost every subspecialty to help patients manage problems associated with NF1. We understand the disorder as it relates to before birth through adulthood. We have oncologists who can treat malignant tumors, sarcoma specialists for pediatrics and adults, and experienced surgeons. Sometimes we¡¯ll assume the entirety of care for a child or young adult, or we may share their care with colleagues at other centers if they have strength in certain areas. We do what¡¯s best for the patient.??
or by calling 1-877-632-6789.
Pediatric neurofibromatosis patients are treated in our Children's Cancer Hospital. Adult patients are treated in our Brain and Spine Center.
Neurofibromatosis type 1 (NF1) diagnosis fuels nurse educator¡¯s passion for goal concordant care
Tori McClosky¡¯s senior year of high school turned upside down when a tumor was found on her brain. The cause was neurofibromatosis type 1 (NF1), a genetic condition that causes tumors to grow on nerves in the brain and throughout the body.
¡°I went from planning prom and playing soccer to shaving my hair off and preparing for brain surgery,¡± she recalls. ¡°It was shocking. I was living my life, and everything was great until I got this news that changed everything.¡± ?
In the 20 years since then, McClosky moved from California to Texas, becoming both a nurse and a patient at MD Anderson. Her experiences have provided a unique perspective and fueled her passion for .
Living and working with NF1
It¡¯s not uncommon for people with NF1 to have tumor recurrences throughout their lifetime. That¡¯s been the case for McClosky as well. She¡¯s undergone three additional surgeries on her hip, spine and skin at MD Anderson ¨C all while working as a clinical nurse and assistant nurse manager in the Breast Center.
With each recurrence, McClosky has had routine conversations with her care team to ensure treatment plans align with her goals and values. For example, before her hip surgery, many discussions centered around exercise, an important aspect of McClosky¡¯s mental and physical well-being. ?
¡°My surgery included the placement of two screws in my hip ¨C and that made me nervous about not being able to run anymore,¡± says McClosky. ¡°My care team understood how important that was to me and helped me figure out modifications to exercises that I could do to remain physically active.¡±
'If it¡¯s important to you, it¡¯s important to us'
McClosky continues to discuss her priorities during regular follow-up appointments with , director of MD Anderson¡¯s neurofibromatosis program. Their open and honest conversations have ensured McClosky gets the most out of life during and after treatments.
This care and these conversations have had a lasting impact on her as a nurse. She is passionate about providing goal concordant care to every patient across the cancer care continuum and encouraging them to be active participants in their care.
¡°Life doesn¡¯t stop outside of cancer. Every patient has physical, emotional and spiritual needs,¡± she says. ¡°I want patients to know that if it¡¯s important to them, it¡¯s important to us and we will do everything we can to make it happen.¡±
Communicating with COMFORT
McClosky now teaches others evidence-based techniques for providing effective and empathetic communication with patients and caregivers as a nurse educator for MD Anderson¡¯s Goal Concordant Care program.
Since July 2023, she¡¯s helped train more than 1,000 nurses and social work counselors using the COMFORT model. COMFORT is an acronym for the basic principles of goals of care communication: Connect, Options, Making Meaning, Family Caregiver, Openings, Relating, Team. Case managers and chaplains will begin taking the classes soon.
¡°I love my role because I have the opportunity to help others approach complex conversations around patient goals, values and preferences ¨C and provide it from a patient¡¯s perspective,¡± she says. ¡°It¡¯s not about providing a specific script or magic bullet for what to say to patients and their families, rather, it¡¯s based upon listening and relationship-building, and making a connection to their life outside the clinic.¡±
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Neurofibromatosis survivor: Snapshots from an MD Anderson patient who doesn¡¯t have cancer
I first became an MD Anderson patient more than 28 years ago, at age 4. But, I¡¯ve never had cancer.
I was born with a genetic disorder called neurofibromatosis. Like cancer, it has no cure. Unlike cancer, remission is not possible, as it is an inherited disease. But just knowing that MD Anderson does such great work beyond cancer is important. Its doctors, nurses and other medical professionals have saved my life repeatedly.
Living with neurofibromatosis: what it¡¯s like
Neurofibromatosis tends to be different than cancer, in that it progressively impacts every aspect of the body ¡ª inside and out ¡ª for life. It also affects each person in vastly different ways. Bone deformities, learning disabilities and tumors, for example, are typical, but not necessarily universal.
In my case, I¡¯ve had six surgeries for tumors so far. Three of those were considered major surgeries, and two were life-threatening. As a child, I took daily growth hormone shots for a decade ¡ª otherwise, I would still be the height of a kindergartner. I currently take 16 different medications, with some for my eyes, heart and stomach. I have physical limitations and must always wear a brace on my right leg. I have an ever-growing number of neurofibromas (basically little bumps) on my skin. I¡¯m dyslexic.
Almost everything about my experience has been unusual, even for someone with neurofibromatosis. I¡¯m at MD Anderson for blood draws, scans and checkups at least half a dozen times a year ¡ª and that¡¯s when I can get multiple appointments on one day and when I¡¯m not having surgery.
Things to remember about neurofibromatosis ¡ª and other diseases and disorders
Just as many cancer patients do, we neurofibromatosis patients sometimes deal with chronic pain and invisible disabilities. I¡¯ve had very few pain-free days. My tolerance has grown since the early 1990s, so migraines or intense leg pains don¡¯t always faze me.
Because of the many medications I¡¯m already taking, sometimes I try to ¡°tough it out.¡± But then, I remember that taking action will make me feel much better, so I do.
We all need to be reminded that pain doesn¡¯t have to be normal when prescriptions or over-the-counter medications can help alleviate it. We also need to be reminded that we don¡¯t know how someone else feels or what they are going through, unless they tell us.
Beating the odds, despite a neurofibromatosis diagnosis
Because of my ongoing medical problems, people have sometimes doubted me. Some even told me that getting a doctorate and becoming a professor would be impossible, because getting even a basic college degree might be too hard for me.
Yet, here I am, a 6¡¯5¡± professor at the University of Houston and a published author with a Ph.D. in history. (I will be forever grateful to MD Anderson¡¯s Children¡¯s Art Project for providing $23,000 in scholarships to help pay for my four college degrees.)
The lesson here is that at the end of the day, you are your own best advocate. So, always stand up for yourself, always take chances, and you, too, can achieve the impossible.
or by calling 1-877-632-6789.