NF Community: Q&A - Tumour Foundation of BC

ABOUT

GENERAL NF QUESTIONS AND ANSWERS

NEUROFIBROMATOSIS (NF1)

NF2-RELATED SCHWANNOMATOSIS

SCHWANNOMATOSIS

Understanding NF Progression:
Factors Contributing to
Worsening Symptoms with Age

Exploring Psychedelics:
Research on Mushroom
Benefits for Tumour
Management in NF

What is the purpose of a
debulking surgery in
neurofibromatosis (NF)?

What Should I Do if My
Doctor Lacks Experience in
Managing Patients with NF?

When Should I Start Getting
Regular Breast Cancer Screenings
as a Woman with NF1?

Should I see a Neurologist
for my NF care?

How does family planning and
genetic counseling support
individuals affected by NF?

My GP just retired and now
no one is managing my
NF symptoms

What can I do when my family
doctor won’t take my health
concerns seriously

Why can’t I obtain a prescription
for Koselugo (Selumetinib) if
Health Canada has approved the drug?

Question: Why does NF get worse with age?

Answer:

NF affects individuals differently, with some experiencing mild symptoms, while others have more complex medical issues because of the disease.

There are several factors that can worsen NF symptoms with age:

NF tumours tend to grow over time and this growth can increase the pressure on nerves, tissues, causing increased pain, weakness, and other complications.
As people with NF age, the growing tumours can cause hearing or vision loss, mobility issues, and other neurological problems.
Over time, NF can lead to conditions such as scoliosis of the spine, high blood pressure, and learning disabilities.
As individuals with NF age, the effects of tumour growths and the complications caused by these tumours add up leading to worsening symptoms and a decline in overall health
Common health conditions associated with ageing include hearing loss, vision loss and cataracts, back and neck pain and osteoarthritis, diabetes, depression, dementia and respiratory disease, these combined with the challenges of NF can further lead to decreased functioning.

It is important for individuals living with NF to strive to achieve optimal health and wellness at any age. Seeking regular medical care, health screening and monitoring tumours and symptoms of the condition are vital. In addition, patients may need to access specialists to address specific NF challenges as they emerge. These actions will help promote optimal health outcomes. Regular mammograms for female patients, geneticist referrals, eye and hearing exams, bone density tests, neurology assessments, dermatology assessments, are some examples of medical care that some NF patients may need. Maintaining a holistic approach to health including self-care, elements of nutrition, exercise, socialization, spirituality, and a positive outlook are beneficial to healthy ageing.

Question: Have there been any research studies investigating the potential benefits of mushrooms in managing tumour growth for individuals with NF?

Answer:

While medicinal mushrooms have shown promising health benefits, there is limited research addressing their use or potential benefits in managing Neurofibromatosis. According to the NIH-National Cancer Institute, medicinal mushrooms have been used to treat infection, lung diseases and cancer. These mushrooms have been approved as an enhancement to cancer treatments in Japan and China, sometimes on their own or in addition to radiation or chemotherapy. In Asia, there are over 100 types of mushrooms used in the treatment of cancer. Studies are progressing to learn more about how mushrooms affect the immune system and how they could potentially slow the growth of tumours or eradicate them altogether. Compounds in turkey tail mushrooms are believed to strengthen the immune system to fight cancer. To learn more about the use of medicinal mushrooms, please visit the link below:

Question: What is the purpose of a debulking surgery in neurofibromatosis (NF)?

Answer:

A debulking surgery in NF aims to reduce the size of neurofibromas to alleviate symptoms and improve quality of life when complete removal is not possible or safe. This procedure involves removing a significant portion of the tumour to minimize its impact on nearby structures such as nerves and blood vessels. This approach is particularly beneficial for large plexiform neurofibromas that can cause issues like nerve compression or organ pressure, providing relief while minimizing damage to surrounding tissues, nerves, or blood vessels.

Discussing the balance between risks and benefits and exploring all available treatment options is crucial for optimizing outcomes. It is essential that the surgical team is experienced and knowledgeable about the potential implications of surgery on tumours associated with NF.

This resource will empower your doctor with the necessary knowledge to effectively manage your NF, conduct appropriate diagnostics and assessments, and facilitate referrals to specialists when needed. Remember, you can also reach out to the Tumour Foundation of BC for additional support for both you and your healthcare team. Continue educating yourself and your healthcare team about NF and engage in self-advocacy. You know your body best, so don't hesitate to speak up and make sure your voice is heard!

Question: When Should I Start Getting Regular Breast Cancer Screenings as a Woman with NF1?

Answer:

Women with NF1 have an increased risk of breast cancer, which may be present at an earlier age than in the general population. Breast MRIs should be implemented annually between ages 30 and 50 years old in all females with NF1. Additionally, patients should be referred to the BC Cancer Hereditary Cancer Program’s High-Risk Clinic for discussion of breast cancer risk and for screening. Visit the link below to learn more about referrals and self-referral options.

When you have neurofibromatosis (NF), it's important to have a team of healthcare providers who can take care of all aspects of your health.

A neurologist is a doctor who specializes in disorders of the nervous system, including the brain, spinal cord, nerves, and muscles. Since NF is a genetic disorder that affects the nervous system, consulting with a neurologist can be very beneficial for your care. They can conduct tests such as MRIs to check for tumors or other changes in your nervous system. If necessary, they can also refer you to other specialists. Additionally, they will assess the function of your nerves and monitor any changes in neurological symptoms that may arise from NF. Finding problems early allows for earlier intervention, which can significantly help in managing the condition.

Your neurologist will work with you to create a personalized treatment plan that addresses your specific needs. This may involve medications to manage pain, seizures, or other neurological issues caused by NF.

To see a neurologist, you'll need a referral from your General Practitioner (GP), or from another physician. If you believe that consulting with a neurologist could benefit you in managing your NF, discuss your concerns and any symptoms related to your nervous system with your doctor.

However, it is important to be aware that the current medical situation in British Columbia includes long wait lists and neurologists who may have limited capacity to take on new patients. This can sometimes lead to delays in accessing specialized care. We understand that this can be frustrating and may cause concern.

In the meantime, your GP and other healthcare providers can help manage your NF care and may offer alternative strategies to address your symptoms. They can also keep you informed about any changes in the availability of specialist care.

Having a neurologist on your healthcare team is ideal for ensuring that all aspects of your NF are properly monitored and managed, providing specialized care tailored to your condition. We encourage you to discuss all your options with your GP to determine the best course of action for your specific needs.

Having a neurologist on your healthcare team ensures that all aspects of your NF are properly monitored and managed, providing specialized care tailored to your condition.

Considering starting or growing your family is an exciting and special time, especially when living with a complex genetic disorder like neurofibromatosis. Naturally, this journey comes with many questions and the need for informed decisions to ensure the best care for you and your future children.

Family planning helps individuals make informed decisions about having children, including when and how many. It involves exploring options such as contraception, fertility, reproductive health, and the timing of pregnancies.

Genetic counselling strives to help families understand a hereditary diagnosis such as neurofibromatosis by providing information and supporting understanding and informed decision making. Topics explored may include information about the genetic condition, management and health care options, genetic testing options, and family planning.

Genetic Testing is a medical test that identifies variations in genes or chromosomes. This testing is typically done through a simple blood test or by testing saliva or other body tissues. The collected sample is analyzed in a lab to identify genetic variations or mutations of the individual’s DNA. Genetic testing results can help to confirm a genetic diagnosis of the disorder. The testing can also identify which relatives may also have a chance of developing NF. Genetic testing can provide valuable answers; however, it remains optional to the patient.

Inheritance and Risk: About half of individuals with neurofibromatosis type 1 (NF1) or NF2-related schwannomatosis (NF2-SWN) inherit the condition from a biological parent, while the rest develop it due to changes in their genes during conception. This is known as a spontaneous mutation.

NF1 and NF2-SWN are similarly inherited in a way that gives offspring a 50% chance of having the condition if a parent carries the gene variant. The severity of symptoms can vary. If a child doesn't inherit the altered gene, they won't have NF and cannot pass it on. However, schwannomatosis doesn't always follow a set inheritance pattern and often occurs by chance. If someone has schwannomatosis, there's a 50% chance they could pass it to their children, but not everyone in their family will develop tumours. This is called reduced penetrance*.

Prenatal testing for NF1 involves checking the baby's DNA before birth. This can be done in two main ways: either by taking a sample of cells from the placenta (chorionic villous sampling) or by collecting amniotic fluid (amniocentesis). Another way to test is by looking at specific DNA markers that are present in other family members who have NF1. Some people decide not to do these tests because they can't predict how serious the disease might be for the baby.

Preimplantation genetic diagnosis allows couples to test embryos for the NF1 mutation before they're implanted. Embryos without the mutation can then be chosen for pregnancy. It's recommended that people with NF1 talk to a genetic counselor before planning to have children.

Before planning a pregnancy, it’s important to know the genetic risks associated with NF to make the best-informed decision for you and your family. Genetic counseling will assist you in understanding the risks and making informed choices about family planning. Talking with a genetic counselor can provide more clarity and support unique to each family's needs. In BC, patients can be referred to the Medical Genetics Program at BC Women’s Hospital and Health Centre by their health care provider. For more information regarding referrals and services visit:

Don’t wait if your symptoms are serious:
You know your body best, listen to your intuition and seek medical attention right away if you have new or worsening symptoms. In British Columbia residents can access urgent care clinics, the emergency department, walk-in clinics and the emergency department at local hospitals.

If you have chest pain, difficulty breathing, or severe bleeding or any other life-threatening emergency call 9-1-1. You can also visit an emergency room if you have been in a major accident or have serious symptoms such as: severe abdominal pain, weakness or tingling on one side of your body, loss of consciousness, and any other potentially life-threatening symptoms.

Urgent and Primary Care Centres provide same-day, urgent, non-emergency health care, including in the evenings and on weekends when family doctors’ offices are closed. To find out more about conditions best addressed in and urgent care centre and find the closest location to you, visit:

Speak to your physician’s medical clinic: Ask your medical clinic staff if the clinic has an alternate physician that can take over your care or address you immediate concerning symptoms. Describe the severity of your symptoms and ask if you can be transferred to another family doctor.

Register with the Health Connect Registry to get a family doctor or nurse practitioner in your community. Please note that there may be a waiting list to receive confirmation of an availability, therefore it’s very important to apply as soon as possible.

Connect with the Tumour Foundation of BC (TFBC) to access NF education and support. Please visit the link below to learn more about the services and support available. You are not alone; we are here to walk this journey along side you.

You may contact the TFBC by email or by phone:

Toll-free: 1-800-385-2263
E-mail: info@tumourfoundation.ca.

Educate Yourself: Recognize that NF is a rare genetic disorder not well-known in the medical community. By educating yourself about the condition, you can more effectively communicate with your healthcare team. Many professionals appreciate having reliable information to better manage your care.

Document Your Symptoms: Keep detailed records of your symptoms, noting dates, times, intensity, and how they affect your quality of life. This can help you articulate your concerns more clearly. For instance, if you’re tracking pain, document when it starts, what activity you were doing, its location and intensity, what alleviates or worsens it, and rate it on a scale of 1-10. Pay attention to the nature of the pain—sharp, dull, burning, throbbing, etc.

Communicate Effectively: Approach your healthcare provider with respect while advocating for yourself. Explain why your concerns are valid and how they relate to your NF. For instance, if you're requesting breast cancer screening, emphasize that your NF increases your risk of breast cancer compared to women without NF. Sharing the “Management Guidelines for NF Type 1” pamphlet from the Tumour Foundation of BC can also provide your doctor with essential information to assist in your care. You can find the downloadable brochures for the management of NF1 and NF2 here:

Request a Specialist Referral: Consider asking for a referral to a specialist, such as a neurologist, who may have more experience with NF.

Be Your Own Advocate: Prioritize your health by confidently asking for the care you need, even if this means booking a second appointment to confirm and address your concerns.

Bring Support:: Having a trusted family member or friend accompany you to appointments can encourage your doctor to take your concerns seriously and help you remember the discussion afterward.

Keep Records of Interactions: Document your visits, including dates, times, and summaries of what you discussed and the doctor’s responses. This can help hold both you and your doctor accountable and may be useful if you seek a second opinion later.

Seek a Second Opinion: If necessary, consider consulting another healthcare provider or reaching out to the Tumour Foundation of BC for guidance in navigating your situation.

Reach out to the Tumour Foundation of BC via email or phone to seek support:

Toll-free: 1-800-385-2263
E-mail: info@tumourfoundation.ca

Approval of Koselugo by Health Canada
Koselugo has been approved by Health Canada for pediatric patients aged 2 years and older with neurofibromatosis type 1 (NF1) and symptomatic, inoperable plexiform neurofibromas. The Health Canada notice of compliance was granted on August 31, 2022, and it means that the medication has been approved in Canada under specific guidelines. Health Canada has reviewed the safety and effectiveness of Koselugo and found that it meets the necessary standards. This is a significant step forward for families affected by NF1, as treatment options have been limited.

How The Drug Works
Koselugo works by targeting specific proteins in the RAS signalling pathway, which is often disrupted in NF1. In clinical trials, many patients experienced a reduction in tumour size and related symptoms. While the drug hasn’t been studied in children under 2 or in seniors, its safety profile appears manageable, and a risk management plan is in place to ensure patient safety. This approval brings hope to many families, offering a new pathway for managing the challenges of NF1.

Who Can Prescribe Koselugo?
Currently pediatric oncologists and neuro-oncologists in specialized hospitals in Canada can prescribe Koselugo. Treatment decisions involve a multidisciplinary team, including pediatricians, neuro-oncologists, and physicians such as surgeons, cardiologists, ophthalmologists, dermatologists, and pharmacists to manage Koselugo. In-person visits are necessary for treatment initiation, imaging follow up and monitoring adverse effects and patient safety.

Accessing Kosleugo in Canada
While accessing Koselugo in Canada remains challenging during these early stages we are hopeful that access will increase as we look into the future. Clinical trials are currently underway in the adult population. Once the new data from the clinic trials for adults with NF1 and plexiform neurofibromas is compiled, Health Canada will begin a new review process to approve the use of Koselugo in adults.

Financial Barriers
Financial barriers to accessing Koselugo will need to be addressed when the drug becomes more accessible in Canada for pediatric patients. Prior to reimbursement of Koselugo by Canada’s public provincial/territorial/federal drug plans, such as for BC PharmaCare, access to Koselugo may be available to some pediatric patients through private insurance plans.

Cost of the treatment with Koselugo will vary depending on a patient’s age and weight, but the list price cost of an average patient is $268,678 annually. Please note that Canada’s public provincial/territorial/federal drug plans secure confidential pricing agreements, and do not reimburse the drug at the full list price. Confidential pricing agreements are determined via negotiations at the pCPA (pan- Canadian Pharmaceutical Alliance).

Looking to the Future
We're excited about the approval of Koselugo for children with NF1 and inoperable plexiform neurofibromas. This new treatment option offers hope for families who have had few choices. While there may be challenges in accessing the medication, including costs and specialized care, we are hopeful these issues will improve. With ongoing clinical trials and teamwork among healthcare providers, there is a brighter future ahead for those affected by NF1. Remember, you are not alone, the Tumour Foundation of BC is here to walk this journey with you, we continue to educate, advocate, and seek resources that improve NF care in BC.

Exploring Preventive Measures:
MEK Inhibitors for Plexiform
Tumour Treatment

Relief for Itchy Cutaneous
Fibromas: Effective Alleviation
Strategies

Does NF1 cause
Gastrointestinal issues?

Does Neurofibromatosis type 1 (NF1)
progress or turn into NF 2-Related
Schwannomatosis (NF2-SWN)?

Question: Q: Can MEK inhibitors be used preventively for treating plexiform tumours?

Answer:

MEK inhibitors such as Koselugo (Solumetinib) have shown promise in treating various types of tumours, including plexiform tumours, which are a characteristic of neurofibromatosis type 1 (NF1). In this genetic disorder tumours form along nerves throughout the body.

While MEK inhibitors have demonstrated efficacy in reducing tumour size and improving symptoms in some patients with NF1-associated plexiform tumours, their use as a preventive measure has not been established. Preventive treatments aim to stop the formation of tumours before they occur, while MEK inhibitors are typically used to shrink existing tumours. “KOSELUGO® (selumetinib) is a prescription medicine that is used to treat children 2 years of age and older with neurofibromatosis type 1 (NF1) who have plexiform neurofibromas that cannot be completely removed by surgery. It is not known if Koselugo is safe and effective in children under 2 years of age.”

Question: Q: What strategies are effective for alleviating the itchiness associated with cutaneous fibromas?

Answer:

Cutaneous neurofibromas are benign tumours that affect the skin of many individuals living with Neurofibromatosis type 1. These tumours can form on or just under the skin and vary in size and number. The cutaneous neurofibromas grow on the nerves in the skin, are typically non-cancerous and do not normally cause any pain or health problems. In some individuals cutaneous neurofibromas cause itching, discomfort, or cosmetic concerns.

Strategies for alleviating itchiness caused by cutaneous neurofibromas include protecting and enhancing the natural skin barrier through skin moisturizers and by avoiding irritants such as fragranced and drying cosmetic products. Topical treatments and medications such as antihistamines may be prescribed by a physician and a referral to a Dermatologist is often beneficial. Surgery, laser, or electrodessication may be considered for fibromas that are increasingly bothersome.

Here are important tips on protecting your skin with cutaneous neurofibromas:

It is important to keep the skin as healthy as possible, this will decrease inflammation, itching and pain.

1. Avoid using wash cloths or irritating skin care products, such as exfoliators.
2. Use fragrance-free gentle soap.
3. Moisturize the skin daily with thick ointments or creams that are fragrance free. Examples: Aveeno, Dove sensitive skin, CeraVe.
4. Use sun protection daily, such as broad-spectrum SPF sunscreen and longer clothing.
5. For itchiness not relieved by gentle skin care alone, please consult with your doctor for possible topical or oral medications.

Please refer to free downloadable resource provided by The Tumour Foundation of BC for tips, strategies, and self-monitoring of your cutaneous neurofibromas. Check out this resource for more information.

Question: Q: Does NF1 cause Gastrointestinal issues?

Answer:

Individuals living with NF1 have an increased risk of developing certain types of tumours,
including gastrointestinal stromal tumours (GIST).

These tumours can arise in the stomach, small or large intestine, or other parts of the digestive system. NF1 predisposes individuals to various types of tumours including gastrointestinal stromal tumours due to mutations in the NF1 gene, which encodes a protein called neurofibromin. Neurofibromin is involved in regulating cell growth and acts as a tumour suppressor. The lack of functional neurofibromin in individuals with NF1 leads to increased cell growth and a higher risk of developing tumours, including GISTs.

Symptoms of a gastrointestinal stromal tumours can vary depending on the tumour's location and size and may include abdominal pain, bloating, acid reflux or indigestion, rectal bleeding, or changes in bowel habits. According to the NIH (National Center for Biotechnology Information), these types of tumours usually arise in midlife or later, generally later than the appearance of the cutaneous fibromas (Agaimy, A., Vassos, N., & Croner, R. S. (2012). Gastrointestinal manifestations of neurofibromatosis type 1 (Recklinghausen's disease): clinicopathological spectrum with pathogenetic considerations. International Journal of Clinical and Experimental Pathology, 5(9), 852–862). Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3484498/.

This is a common question asked by both patients and GPs. To clarify, NF1 does not progress or turn into NF2-SWN.

Neurofibromatosis is a genetic disorder that causes multiple tumours on nerve tissues, including the brain, spinal cord, and peripheral nerves.

There are three types of NF: NF1, NF2-SWN, and Schwannomatosis. Different gene mutations result in the three different types of NF. NF1 is the most common type, accounting for 96% of cases, NF2-SWN for 3%, and schwannomatosis for less than 1% of cases (Tamura R. (2021)*.

NF1 and NF2-SWN are distinct genetic disorders caused by mutations in different genes. Specifically, NF1 is caused by mutations in the NF1 gene on chromosome 17q11.2, while NF2-SWN is caused by mutations in the NF2 gene on chromosome 22q12. While both disorders can occur with or without a family history, they each have different clinical features.

NF1, the most common type of neurofibromatosis, is characterized by café-au-lait spots, freckling in the groin and armpits, and neurofibromas on or under the skin. Learning challenges can occur in half of the individuals with NF1, in addition to softening and curving of bones. Tumours may also occur in the brain, on cranial nerves, and on the spinal cord. NF tumours are usually non-cancerous, but they may cause health problems by pressing on nearby body tissue. Sometimes a benign (non-cancerous) tumour may become malignant (cancerous).

NF2-SWN is rare, affecting about 1 in 25,000 people globally. It causes benign tumours called vestibular schwannomas (formerly acoustic neuromas) on the nerve that handles sound and balance from the inner ear to the brain. These tumours affect both ears, often causing hearing loss. NF2-SWN can also lead to other brain or spinal tumours, and sometimes eye problems like cataracts. Symptoms typically start in late teens or early adulthood, in some cases appearing in late childhood.

Schwannomatosis is the rarest type of neurofibromatosis, affecting fewer than 1 in 40,000 people. This disorder causes benign tumours called schwannomas to develop primarily on spinal and peripheral nerves. The condition is associated with mutations in specific genes that regulate cell growth in the nervous system. These mutations disrupt normal protein production, leading to excessive cell multiplication and tumour formation. Schwannomas can be painful and challenging to manage, and the condition is typically diagnosed in adulthood.

Each type of neurofibromatosis has unique clinical features, genetic causes, and progression patterns. Therefore, NF1 does not turn into NF2-SWN or any other type of neurofibromatosis. They are separate conditions with different underlying genetic mutations and clinical symptoms.

* Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis. International Journal of Molecular Sciences, 22(11), 5850.

Age and Acoustic
Neuroma Risk

Question: Is there a specific age range where the likelihood of developing acoustic neuromas decreases if not yet diagnosed?

Answer:

Not all patients diagnosed with Neurofibromatosis Type 2 (NF2) develop acoustic neuromas (vestibular schwannomas), but it is one of the hallmark features of the condition. NF2-SWN is a genetic disorder characterized by the development of tumours on the nerves that control hearing and balance, primarily affecting the eighth cranial nerve (vestibulocochlear nerve).

These tumours can lead to hearing impairment as well as balance and coordination issues. NF2-SWN typically manifests its symptoms in late teens or early adulthood, though approximately 10% of affected individuals may experience symptoms during late childhood.

While the majority of patients with NF2-SWN do develop acoustic neuromas at some point in their lives, the severity and progression of the disease can vary significantly among individuals. Some patients may have multiple tumours, while others may have fewer or smaller tumours. Additionally, not all NF2-related tumours are limited to the acoustic nerves; they can also affect other nerves in the brain and spinal cord.

Regular monitoring and management by healthcare professionals specializing in NF2 are crucial for early detection and appropriate treatment of associated tumours and symptoms.

Advances in Schwannomatosis
Pain Management Treatments
and Medications

Ongoing Research Initiatives
for Schwannomatosis

Expertise in Schwannomatosis:
Notable Specialists in the Field

Question: Are there any recent advancements in treatments or medications for managing Schwannomatosis pain?

Answer:

Ongoing research in the study of all types of Neurofibromatosis including Schwannomatosis is in progress, leading to increasing understanding about the condition. Currently, there is no cure for schwannomatosis, and no medications have been shown to effectively treat schwannomas. The focus of management is to address the specific symptoms that individuals may encounter. Pain, often the most common and bothersome symptom, necessitates priority in management, as it can be chronic and result from schwannomas exerting pressure on nerves.

Treatment options for pain management include surgical removal of the problematic tumour that is causing the pain, and pharmaceutical interventions. Various medications such as anti-inflammatory drugs, opioids, anticonvulsants, and antidepressants can be considered for pain relief. Additionally, non-pharmacological approaches like physical therapy, acupuncture, and massage therapy may provide relief. However, not all schwannomas are amenable to surgical removal, emphasizing the importance of seeking assessment from an experienced surgeon to explore this option. Radiation therapy may be another consideration to shrink tumours or alleviate symptoms, particularly for inoperable tumours.

Patients may find consultation with a pain clinic specialist beneficial, which can be arranged through referral by their General Practitioner.

Individuals with schwannomatosis are best cared for by a specialized NF clinic where specialists experienced in the condition can prescribe protocols that are most effective for people living with the condition.
Ongoing research into schwannomatosis includes emerging clinical trials. One such trial is the Phase 2 Study of Tanezumab in the United States. This trial aims to evaluate the effectiveness of Tanezumab, an anti-nerve growth factor antibody, in managing moderate to severe pain associated with Schwannomatosis. For further details about this trial and any other emerging clinical trials related to Schwannomatosis, refer to:

Question: What current research initiatives are underway for Schwannomatosis?

Answer:

Ongoing research aimed at understanding the causes, progression, and potential treatments for Schwannomatosis is underway. Research initiatives include genetic studies to identify the specific gene mutations associated with the condition. Understanding genetic factors paves the way to potential targeted therapies.

International Schwannomatosis Database is an exciting initiative aimed at accelerating research by connecting patients, families and scientists. The goal for this study is to collect information from patients related to symptoms, management, medications, treatments, and outcomes to better understand the condition and to help make treatments as effective as possible. To learn more about this database and get involved, visit the link below:

Question: Expertise in Schwannomatosis: Notable Specialists in the Field

Answer:

Specialized Neurofibromatosis Clinics offer consultations and management for patients with Neurofibromatosis and Schwannomatosis. Specialists from various disciplines such as Geneticists, Neurologists, Neuro-oncologists, Neurosurgeons, Ophthalmologists, Dermatologists, and Pain Clinic Physicians, have a specialized body of knowledge and experience related to the unique challenges of Schwannomatosis.

The Elisabeth Raab Neurofibromatosis clinic located in Toronto, Ontario is the first multidisciplinary clinic in Canada that focuses on the care of adults living with NF. This clinic adopts a holistic approach to the management of NF.

In British Columbia, The Tumour Foundation of BC is actively pursuing resources, funding and support for the permanent re-establishment of a specialized Neurofibromatosis Clinic. We ask British Columbians that are living with Neurofibromatosis/Schwannomatosis to join the clinic waitlist and partner with us in raising awareness for the need of specialized NF care in our province. To join the NF clinic waitlist please visit the link below:

It is difficult to identify a select few specialists highly regarded in the field of Schwannomatosis since there are countless physicians, researchers, and scientists that are making positive contributions in understanding the condition and striving to discover and create effective treatments. Additionally, NF specialized clinics comprise highly knowledgeable clinicians in the field of Neurofibromatosis, including Schwannomatosis. It is a collaborative effort across various institutions and disciplines.

NF Community: Questions and Answers

Welcome to the Tumour Foundation of BC's vibrant community question platform

Welcome to the Tumour Foundation of BC's vibrant community question platform.

DISCLAIMER: The information provided on the website is for informational purposes only and should not be considered as medical advice. Please consult a healthcare professional for personalized medical guidance.

If you experience new or worsening gastrointestinal discomfort such as bloating, constipation, diarrhea, rectal bleeding, or abdominal discomfort, seek immediate medical attention.

Subscribe to our mailing list

NF Community: Questions and Answers

Welcome to the Tumour Foundation of BC's vibrant community question platform

Welcome to the Tumour Foundation of BC's vibrant community question platform.

DISCLAIMER: The information provided on the website is for informational purposes only and should not be considered as medical advice. Please consult a healthcare professional for personalized medical guidance.