What is Neurofibromatosis Type 2 (NF2)? Let's talk about it simply.

Do you have small lumps forming in some parts of your body? Or do you have a slight loss of hearing and feel dizzy? Although we think these are normal things, sometimes behind these things may be a genetic condition that we have not heard of much. Today we are going to talk about one such disease. This disease is Neurofibromatosis Type 2, or the short name we all know is NF2 . Although this is a bit complicated, let's understand it very simply.

Simply put, what is NF2?

NF2 is a genetic condition that affects our nervous system. Due to a change in a gene in our body, our body receives the wrong signal to produce too many cells. This excess cells accumulate and form tumors.

The best part is that most of these lumps are benign/noncancerous . This means they do not spread to other parts of the body. However, depending on where these lumps form, we may experience various problems.

The most common places where these bumps can form are:

• Nerves throughout our body (peripheral nerves).
• The membrane between the brain and the skull (meninges).
• Spine.
• The nerves that connect the brain and the inner ear, helping with hearing and balance.

NF2 is a condition that belongs to a group of diseases called `neurofibromatosis.` This group of diseases mainly affects our skin and nervous system.

How common is this disease?

This is not a very common disease. According to statistics, NF2 affects about one in 33,000 children born worldwide. About 3% of all diagnosed neurofibromatosis patients are NF2 patients.

What are the symptoms of NF2?

The symptoms of NF2 can vary from person to person. They depend on where the tumors are located in your body and how large they are. For many people, the first symptoms are caused by tumors in the nerves that control hearing.

The table below can help you understand these symptoms more clearly.

Symptoms often begin to appear between late childhood and the age of 30. However, the disease can affect people of any age. Adults are more likely to experience hearing problems first. However, children are more likely to develop tumors in the brain or spinal cord. The onset of symptoms in childhood means that the disease may be more severe.

What types of lumps develop in NF2?

There are several main types of nodules that can be seen in NF2. Let's take a simple look at them.

Why does NF2 develop? What is the cause?

The main reason for this is a genetic change in the gene `NF2` in our body. This gene helps to make a protein called `merlin`. The main function of this protein is to stop the formation of tumors (tumor-suppressor).

So, when there is a change in the `NF2` gene, the `merlin` protein is not produced properly. Then some cells in our body start dividing and multiplying uncontrollably. This is how the excess cells accumulate and form tumors.

We can get this genetic variation in two ways:

1. Heredity: If one of the parents has this gene mutation, there is about a 50% chance that a child will inherit it (`autosomal dominant` pattern).

2. Randomly: Sometimes, even if no one in the family has the disease, a new genetic mutation can occur randomly at the time of conception. This is how most NF2 patients develop the disease.

Who is at risk? What are the possible complications?

If someone in your family, especially your parents, has NF2, you are also at risk of developing the disease.

There are several complications that can occur due to NF2.

• Complete loss of hearing.
• Complete loss of vision.
• Nerve damage.
• Fluid buildup in the brain.

Very rarely, some NF2 nodules can become cancerous, so regular medical checkups are very important.

How to diagnose this disease?

A doctor will examine you and run various tests to confirm whether you have this disease or not. First, they will do a physical examination. They will look at things like changes in your skin and your body's balance. Then they will ask about your symptoms and family medical history.

In addition, the following tests can be performed:

• MRI scan: This can clearly see if there are any tumors in your nervous system and skin.
• Hearing test: Check your hearing level.
• Eye exam: Check for cataracts or other eye problems.
• Genetic testing: Check for a mutation in the `NF2` gene.

What are the treatments for NF2?

In fact, there is no cure for NF2 yet. However, the diagnosis and treatment of the disease have improved greatly. These treatments help control symptoms and help you live as normal a life as possible. Treatment varies from person to person. Your doctor will decide which treatment is best for you.

Sometimes, if your lumps are not causing you any major discomfort, your doctor may decide to monitor them without treating them. However, it is essential to have a physical examination, scans, and hearing and vision tests at least once a year to monitor the progress of the disease.

The medical team treating this

Because NF2 is a disease that affects multiple body systems, it is treated by a team of doctors with various specialties. This team usually includes:

• Neuro-oncologists: Doctors who specialize in cancers and tumors of the nervous system.
• Neurosurgeons: Surgeons who specialize in the nervous system.
• ENT surgeons: Ear, nose, and throat surgeons.
• Audiologists: Specialists in hearing.
• Genetic counselors: Specialists who advise on genetic diseases.

Are there any side effects of the treatment?

Yes, like any treatment, these treatments can have side effects. It varies depending on the type of treatment.

There are some risks involved in surgery to remove tumors. Because these tumors are located in very sensitive areas like the brain and spinal cord, there are risks such as bleeding, infection, and nerve damage. But your surgical team will do their best to minimize these risks.

In chemotherapy and radiation therapy,

• Constipation
• Diarrhea
• Tiredness
• Hair loss
• Appetite
• Nausea and vomiting

Side effects such as: Before starting treatment, talk to your doctor about possible side effects.

What can you say about the lifespan with this disease?

How NF2 affects a person's lifespan depends on many factors. The size of the lesions, their location, and age at first diagnosis are among the most important. Sometimes the lesions may not cause any symptoms. Other times, the symptoms can be very severe.

The best thing is to diagnose the disease early and start treatment before complications develop . Then the outlook is much better. Depending on how your symptoms affect you, your doctor will be able to give you a more accurate prognosis.

Can NF2 be prevented?

No. Since NF2 is a genetic condition, it cannot be prevented. However, if your family has a history of the condition and you are planning to start a family, it is important to seek genetic counseling before having a child. This will help you understand the risk of your child developing the condition.

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