- Specialized expertise in treating rare and complex neurogenetic disorders while minimizing the number of treatments you receive over your lifetime. Go to Conditions Treated
- Advanced treatment options, including interventional neuroradiology, CyberKnife® radiosurgery, and minimally invasive approaches to neurosurgery. Go to Treatments
- Clinical trials that offer eligible patients earlier access to the latest treatments for neurogenetic disorders. Go to Clinical Trials
- Team-based approach with world-renowned neurologists, neurosurgeons, interventional neuroradiologists, neuro-oncologists, geneticists, and other specialists working collaboratively to meet your unique needs. Go to Your Care Team
- Comprehensive support services to help you and your family focus on health and healing. Go to Support Services
- Ease of access to treatment at our Neuroscience Health Center, a state-of-the-art facility that provides complete care at a single, convenient location. Go to Connecting to Care
Neurogenetic disorders are rare, inherited diseases that can cause tumors to grow in your brain, spinal cord, organs, skin, and bones. They are lifelong conditions that require close, ongoing monitoring.
Inherited diseases pass from parents to their children through their genes, which are sequences of DNA that carry genetic information. Neurogenetic disorders result from specific changes (mutations) in a person’s genes.
Because neurogenetic disorders are uncommon, not all doctors have experience diagnosing and treating them. Finding a medical team who understands the complexities of your condition is essential. At Stanford Health Care, you receive care from specialists with deep expertise in all types of neurogenetic disorders.
Conditions we treat include:
People with HHT develop abnormal blood vessels, called arteriovenous malformations (AVMs), that can break open and bleed. AVMs can form in the skin and mucous membranes, especially inside the nose and mouth. Internal AVMs can also occur in the gastrointestinal tract, lungs, liver, brain, and spine.
This condition involves the development of multiple tumors called schwannomas. Schwannomas occur in the peripheral nerves that branch off of the brain and spine and travel throughout your body. People with schwannomatosis may experience pain, numbness, tingling, and weakness. A range of other symptoms can also occur, depending on the location of the tumor.
In this condition, noncancerous (benign) tumors grow in the brain and other areas of the body. People with tuberous sclerosis have symptoms ranging from mild to severe. Tumors in the brain can cause seizures, behavior problems, and developmental delays.
This condition causes tumors in the brain, spinal cord, and nerves. These tumors can become cancerous. There are two types, NF1 and NF2. People with NF1 often have a wide range of symptoms, including learning difficulties, bone deformities, eye problems, and skin conditions. Hearing loss and balance problems are the main symptoms of NF2. These symptoms occur when tumors press on the nerves that carry signals from the inner ears to the brain.
In SWS, clusters of abnormal blood vessels called angiomas form in the nervous system, skin, and eyes. People with SWS often have a skin angioma on their face at birth, also known as a port-wine stain. Angiomas can also form in the tissue that covers the brain and spinal cord, causing seizures, muscle weakness, and developmental delays.
This condition causes cancerous and noncancerous tumors in many locations in the body. The most common tumor people with VHL develop is a type of brain tumor called a hemangioblastoma. The VHL Alliance is a national society that connects people with VHL and provides support and resources.
Our specialists come together to provide treatments that address the multiple medical issues associated with neurogenetic disorders.
Our multispecialty Neurogenetic Cancer Program is among a select group of programs worldwide that provide specialty care for patients with rare neurogenetic disorders. Our goal is to effectively manage your symptoms, keeping in mind that you may require multiple treatments over your lifetime.
At Stanford Health Care, you are an equal partner in your care, and we work with you and your family to provide the best possible quality of life.
INNOVATION HIGHLIGHTS
- Our doctors collaborate with the Wu Tsai Neurosciences Institute and the Stanford Cancer Institute to investigate rare neurogenetic disorders and develop new treatment strategies.
- We continue to expand our team to meet our patients’ needs, recently adding pediatric neurosurgeons. These specialists help provide a seamless transition of care from childhood to adulthood.
- Stanford Medicine neurosurgeons developed CyberKnife radiosurgery. We continue to advance the use of this leading-edge, noninvasive technology to treat neurogenetic tumors.
Depending on your symptoms, your doctor may perform functional tests such as eye, hearing or balance exams. Other tests your doctor may recommend include:
Imaging tests, such as MRI, CT scan, and ultrasound tests, look for tumors in your brain, spinal cord, or other areas of your body.
If you experience seizures, your doctor may recommend an electroencephalogram (EEG) to measure your brain’s electrical activity. This test allows your doctor to assess the seizures and identify which part of the brain they are coming from.
Genetic testing can determine if you have a genetic mutation that causes a neurogenetic disorder.
If you have a family member with a neurogenetic condition, talk to your doctor to find out if genetic testing is right for you. Genetic testing can tell you if you have inherited a neurogenetic disorder, even if you do not have symptoms. Our genetic counselors also help you understand the risk of passing the condition on to a child if you are planning a pregnancy.
Neurocognitive testing includes a set of standardized tests to assess your brain’s ability to process information and control your actions and behavior. Your care team uses the results of this testing to help diagnose your condition and plan treatment.
Treatment Options
Your care plan may include one or more types of treatments. We customize your plan based on your condition, needs, and health goals. Treatments you receive may include:
You may receive medications to control pain, prevent seizures, and reduce the size of benign tumors or growths.
If your tumor is cancerous, oral or intravenous cancer medications can destroy cancer cells or slow their growth. Types of cancer medications include:
CyberKnife radiosurgery is an advanced treatment that uses high-dose radiation beams to destroy tumor cells. CyberKnife does not cause pain and is highly precise, limiting damage to nearby healthy tissues. The Stanford CyberKnife Stereotactic Radiosurgery Program is among the most advanced in the world. We’re renowned for developing this innovative technology in 1994.
Radiation therapy uses radiation to destroy cancer cells and slow the growth of tumors. It is safe and often used in combination with other treatments. Types of radiotherapy include:
- External beam therapy
- 3D conformal radiation therapy (3D-CRT)
- Intensity-modulated radiotherapy (IMRT)
- Internal radiation (brachytherapy)
Doctors in our Interventional Neuroradiology Program use minimally invasive techniques to treat neurogenetic conditions that affect the blood vessels. They reach the affected areas using thin tubes (catheters) inserted through a blood vessel in your groin or wrist.
The best treatment for brain and spinal cord tumors is often surgical removal before they cause serious symptoms or irreversible damage. Our neurosurgeons use microsurgical procedures to achieve optimal outcomes. During microsurgery, we use very small instruments and a surgical microscope to remove tumors while sparing surrounding healthy tissue.
Your wellness plays a role in the success of your treatment. We offer a range of support services to assist you and your family throughout your cancer journey. Whether it's spiritual counseling, a new wig, or help with your finances, we’re here for you whenever you need us.
Innovation Through Clinical Research
Stanford Health Care Neuroscience actively participates in groundbreaking research and clinical trials to evaluate new and better ways to diagnose, treat, and manage neurological disorders. Participating in a trial may give you access to experimental therapies that are not available otherwise. We also partner with the Wu Tsai Neurosciences Institute to better understand the brain, develop new treatments for brain disorders, and promote brain health.
Clinical trials are research studies that evaluate a new medical approach, device, drug, or other treatment. As a Stanford Health Care patient, you may have access to the latest, advanced clinical trials.
Open trials refer to studies currently recruiting participants or that may recruit participants in the near future. Closed trials are not currently enrolling, but similar studies may open in the future.
Your Circle of Care
A diagnosis of a neurological condition—and the changes it may bring—can be unsettling. We offer you and your caregivers the personalized support you need at every step. Your team listens to you and develops a plan for your situation. And you’ll work with the same team from diagnosis throughout treatment, so we can get to know you and your needs.
Your care team supports all your physical, emotional, and daily living needs. Our goal is to minimize the impact your condition has on your life.
Your Doctors
Endocrine Surgeons
Endocrine surgeons have advanced training in the care of benign and cancerous endocrine tumors. They treat a range of disorders impacting the body’s endocrine system through open and minimally invasive surgery of the adrenal, thyroid, and parathyroid glands as well as neuroendocrine cells.
View All {0} Endocrine Surgeons »Geneticists
A geneticist is a medical doctor with specialized training to evaluate, diagnose, and treat individuals and families with genetic conditions.
View All {0} Geneticists »Interventional Neuroradiologists
Interventional neuroradiologists are doctors with advanced training in radiology and neurology to treat conditions affecting the brain, spinal cord, and nerves. They perform minimally invasive procedures using thin tubes (catheters) inserted through blood vessels to access treatment areas.
View All {0} Interventional Neuroradiologists »Medical Oncologists
Medical oncologists have specialized training in diagnosing and treating cancer using medications, including chemotherapy, immunotherapy, hormone therapy, and targeted therapy.
View All {0} Medical Oncologists »Neurologists
A neurologist specializes in neurology (brain, spinal cord, and nervous system care), epilepsy, and seizure disorders. They are experts in using medications and other nonsurgical options to treat epilepsy and seizures.
View All {0} Neurologists »Neurologic Oncologists
Neuro-oncologists specialize in diagnosing and treating cancerous tumors of the brain and spinal cord. They treat these cancers using medications including chemotherapy and biologic therapy, such as targeted therapy. Neuro-oncologists often serve as your main health care provider, coordinating your treatment among several specialists.
View All {0} Neuro-oncologists »Neurotologists
A neurotologist is a type of otolaryngologist (ENT) who provides medical and surgical care for nerve disorders and tumors affecting the ears, balance system, facial nerves, temporal bone, skull base, and related structures of the head and neck.
View All {0} Neurotologists »Neurosurgeons
A neurosurgeon is a physician who specializes in the diagnosis and surgical treatment of central and peripheral nervous system disorders.
View All {0} Neurosurgeons »Pain Management Specialists
These anesthesiologists are medical doctors who perform nonsurgical and minimally invasive procedures to alleviate pain.
View All {0} Pain Management Specialists »Radiation Oncologists
Radiation oncologists have specialized training in using high-energy radiation to destroy cancer or prevent its spread while protecting healthy tissue.
View All {0} Radiation Oncologists »Urologic Surgeons
Urologic surgeons specialize in diagnosing and managing cancers affecting the genitourinary tract and male reproductive organs.
View All {0} Urologic Surgeons »Advanced Practice Providers (APPs)
These health care providers work with your doctors to help with diagnosis and treatment. APPs may recommend medications, lifestyle changes, and services such as genetic counseling. An APP can be a nurse practitioner (NP), physician assistant (PA), or clinical nurse specialist (CNS).
View All {0} Advanced Practice Provider Doctors »Extended Care Team
Nurses and Nurse Coordinators (RN)
Nurses and nurse coordinators are registered nurses who coordinate your care with your medical team. They guide you from your first contact through follow-up care and help you find counseling, financial, and other support services.
Care Coordinators
Care coordinators provide you with information and assistance before and during your appointment.
- Medical Assistant: Medical assistants work with our team to help provide care. They may prepare you for an examination, assist your doctor, or take your vital signs before your appointment.
- Patient Care Coordinator: Our patient care coordinators help you with scheduling appointments and accessing your lab results. They are your first line of contact before you see your provider and will guide you during your care.
- Patient Access Representative: Patient access representatives can answer your questions about health insurance coverage, help you apply for health insurance, and refer you to our financial counselors.
Research Coordinators
Our researchers lead efforts to advance the understanding of neurogenetic disorders and their treatment. Research coordinators help screen candidates for possible participation in clinical research trials.
Support Services
Part of your care involves managing your emotional and spiritual health. We offer you and your loved ones services that can help you stay strong through your treatment and recovery.
Our wide range of support services offer a single point of contact to assess your needs and connect you to the help you need. Contact our Cancer Care Services for your personal support plan.
We make access to care as simple as possible. We anticipate what you need and provide support when you need it. Our network of locations puts our services within your reach. User-friendly digital health tools help you stay connected with your care team. We accept most insurance plans and offer discounted transportation, short-stay options, and international travel and translation services. We help make sense of the details, so you can make decisions that are right for you.
We understand that receiving health care should be accessible and convenient. Our scheduling staff can coordinate your appointments if needed, so that you can see multiple providers during a single visit.
For Referring Physicians
PHYSICIAN HELPLINE
Fax: 650-320-9443
Monday – Friday, 8 a.m. – 5 p.m.
Stanford Health Care provides comprehensive services to refer and track patients, as well as the latest information and news for physicians and office staff. For help with all referral needs and questions, visit Referring Physicians.
You may also submit a web referral or complete a referral form and fax it to 650-320-9443 or e-mail the Referral Center at ReferralCenter@stanfordhealthcare.org
