Neurofibromatosis Care in Grand Rapids, Michigan

Neurofibromatosis (NF) is a term used for two distinct genetic conditions: neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2). Both are caused by changes (mutations) in different genes, which can be inherited or occur spontaneously at conception.

In the Grand Rapids, MI area, people living with neurofibromatosis can access specialized care through major health systems such as Corewell Health (formerly Spectrum Health), Trinity Health Grand Rapids, Metro Health – University of Michigan Health, and Mercy Health, as well as local neurology and genetics clinics.

What Is Neurofibromatosis Type 1 (NF1)?

NF1, also known as von Recklinghausen’s disease, is the most common type of neurofibromatosis. It affects about 1 in 3,000–5,000 people.

NF1 is a syndrome, meaning it has a collection of features that tend to occur together. The condition can range from very mild to more severe, even within the same family.

  • Many people with NF1 in Grand Rapids will have mild symptoms and live normal, healthy lives.
  • A smaller number may develop more serious health problems at certain stages, such as childhood, adolescence, or pregnancy.

Because NF1 can vary so widely, regular follow-up with a healthcare provider is important, especially for children.

Common Features of NF1

Café-au-lait Spots

One of the earliest and most common signs of NF1 is the presence of:

  • Flat, light- to dark-brown skin patches
  • Called café-au-lait spots (French for “coffee with milk”)

Key points:

  • Usually appear before age 2
  • Most people with NF1 have six or more spots
  • The number of spots does not predict how severe NF1 will be
  • These spots are harmless and caused by extra pigment (melanin) in the skin

People without NF1 can also have a few café-au-lait spots, so the diagnosis is based on a combination of signs, not this feature alone.

Freckling in Unusual Areas

People with NF1 often develop freckles:

  • In areas not usually exposed to the sun, especially:
    • Armpits
    • Groin

These freckles are harmless but help doctors recognize NF1.

Lisch Nodules (Eye Changes)

Lisch nodules are:

  • Tiny, harmless brown spots on the colored part of the eye (iris)
  • Usually seen with a special light called a slit lamp

They:

  • Do not affect vision
  • Are common in older children and adults with NF1
  • Help confirm the diagnosis

In Grand Rapids, these can be checked by an ophthalmologist at clinics associated with Corewell Health, Trinity Health Grand Rapids, or local eye centers.

Neurofibromas (Skin and Nerve Tumors)

Neurofibromas are:

  • Soft, skin-colored or pink bumps
  • Benign (non-cancerous) tumors that grow on nerves anywhere in the body
  • Most visible on or just under the skin

Typical pattern:

  • Often appear around adolescence
  • By age 30, most people with NF1 have at least several
  • Some people may have hundreds

Most neurofibromas:

  • Grow slowly
  • Are harmless and do not cause pain
  • May cause cosmetic concerns, especially on exposed skin

These bumps often:

  • Are few or absent in early childhood
  • Increase in number during puberty or pregnancy

Dermatologists and neurologists in Grand Rapids can help monitor and, when needed, remove troublesome neurofibromas.

Plexiform Neurofibromas

Plexiform neurofibromas are:

  • Larger, more complex tangles of nerve tissue
  • Can occur anywhere in the body
  • Often develop before birth
  • Usually noticeable by age 2

About 5% of plexiform neurofibromas:

  • Cause significant changes in appearance
  • May require specialized management at a children’s hospital or neuro-oncology clinic

In West Michigan, complex cases are often managed through multidisciplinary teams at Helen DeVos Children’s Hospital (Corewell Health) and other regional centers.

Learning Difficulties

Around half of people with NF1 have some type of learning difficulty, even though overall intelligence is usually normal. Common challenges include:

  • Reading
  • Math
  • Spelling
  • Attention and focus

Most children:

  • Struggle in one or two specific areas
  • Can stay in regular classrooms with extra support

Families in Grand Rapids can work with:

  • School psychologists and special education services in Grand Rapids Public Schools and surrounding districts
  • Pediatric neurologists and neuropsychologists for formal evaluation

Bone and Spine Problems

About 15% of children with NF1 develop:

  • A noticeable curve in the spine (scoliosis)
    • Some may need bracing or surgery to straighten the spine

Less commonly, children may be born with:

  • Weakness in the shin bone (tibia), leading to bowing or fracture
  • These fractures may heal poorly and require orthopedic specialist care

Orthopedic services in Grand Rapids are available through major hospital systems and pediatric orthopedic clinics.

Cancer Risk in NF1

People with NF1 have a slightly increased lifetime risk (about 10%) that a neurofibroma can become cancerous.

Warning signs to report promptly to a doctor include:

  • Rapid growth of a neurofibroma
  • New or worsening pain
  • Changes in texture (becoming hard)
  • Weakness or numbness near the tumor

Early evaluation with imaging (MRI or CT) and referral to oncology services in Grand Rapids can be critical.

What Causes NF1?

Everyone is born with two copies of the NF1 gene on chromosome 17 in all their cells. This gene helps control cell growth.

In NF1:

  • One copy of the NF1 gene has a mutation (faulty change)
  • The other copy is normal
  • The faulty copy is dominant, meaning it overrides the normal copy and causes NF1

Inherited vs. Spontaneous NF1

  • Up to 50% of people with NF1 are the first in their family to have it
    • This happens due to a spontaneous mutation in the egg or sperm at conception
    • It is not caused by anything the parents did or did not do

Once a person has NF1:

  • Each child has a 50% (1 in 2) chance of inheriting the faulty gene
  • This pattern is called autosomal dominant inheritance

How Is NF1 Diagnosed?

NF1 is usually diagnosed based on:

  • Physical examination
  • Medical history
  • Presence of specific features, such as:
    • Multiple caf��-au-lait spots
    • Freckling in armpits or groin
    • Lisch nodules
    • Neurofibromas
    • Bone changes
    • Family history

Additional tests may include:

  • Eye exams (for Lisch nodules and optic pathway tumors)
  • X-rays
  • CT scans
  • MRI scans
  • Biopsy of a skin neurofibroma (if needed)

Although NF1 is a genetic condition, genetic testing is not always required for diagnosis. It may be used when:

  • The diagnosis is uncertain
  • Testing is needed during pregnancy
  • Families want to clarify risks for future children

Genetic testing should be done along with genetic counseling.

In Grand Rapids, referrals for genetic evaluation can be made through:

  • Corewell Health genetics services
  • Trinity Health Grand Rapids genetics clinics
  • University of Michigan Health-West (Metro Health) partners
  • Kent County Health Department for information and referrals

Children at risk for NF1 (for example, if a parent is affected) usually show signs by age 5.

What Is Neurofibromatosis Type 2 (NF2)?

NF2 is much less common than NF1, occurring in about 1 in 33,000–40,000 births.

NF2 is also a syndrome, with several features that often occur together. The major feature is the development of non-cancerous tumors on the nerves that control:

  • Hearing
  • Balance

These tumors are called vestibular schwannomas (also known as acoustic neuromas).

Key Features of NF2

Vestibular Schwannomas

In NF2:

  • Schwannomas develop on the auditory and vestibular nerves
  • They usually occur on both sides (bilateral), though not always at the same time

This can lead to:

  • Gradual hearing loss
  • Ringing in the ears (tinnitus)
  • Problems with balance

Sometimes schwannomas occur on only one side (unilateral), especially in milder or mosaic forms of NF2.

Other Nerve Tumors

NF2 tumors can affect other nerves, impacting:

  • Facial sensation
  • Swallowing
  • Speech
  • Eye movements

Tumors can also occur in the brain and spinal cord, causing:

  • Weakness
  • Numbness
  • Headaches
  • Vision changes

Because Michigan winters can increase fall risk in people with balance problems, it’s especially important for Grand Rapids residents with NF2 to:

  • Use caution on ice and snow
  • Discuss fall-prevention strategies with their healthcare team

When Do NF2 Symptoms Appear?

Signs of NF2 usually develop:

  • In late adolescence
  • Or early to mid-adulthood

Some people may not have noticeable symptoms until their 40s or 50s.

What Causes NF2?

Everyone has two copies of the NF2 gene on chromosome 22. This gene provides instructions for a protein that helps protect against tumor growth.

In NF2:

  • One NF2 gene copy is faulty
  • The other copy is normal
  • The faulty copy dominates and leads to tumor formation

Inherited vs. Spontaneous NF2

  • Many people with NF2 have a family history, often a parent with the condition
  • An affected parent has a 50% chance in each pregnancy of passing on the faulty gene
    • This is also autosomal dominant inheritance

In families with no prior history, NF2 results from a spontaneous mutation in:

  • The egg or sperm, or
  • Shortly after conception

Mosaic NF2

If the NF2 mutation occurs shortly after conception, not all cells in the body carry the mutation. This is called mosaic NF2.

People with mosaic NF2:

  • Often have milder symptoms
  • May have tumors on only one side of the body (unilateral)
  • Have a lower than 50% chance of passing NF2 to their children

However:

  • If a child does inherit the faulty NF2 gene from a mosaic parent, the child usually has the mutation in all cells and is often more severely affected
  • That child then has a 50% chance of passing NF2 to their own children

How Is NF2 Diagnosed?

Diagnosis of NF2 may include:

  • Physical and neurologic examination
  • Detailed medical and family history
  • Hearing tests (audiology)
  • Balance tests
  • MRI scans of the brain and spine to look for tumors

Children of a parent with NF2 are considered at 50% risk and may begin screening early in life.

Genetic Testing for NF2

Genetic testing can:

  • Confirm whether a person has inherited the faulty NF2 gene
  • Help identify family members who are at risk but do not yet have symptoms (pre-symptomatic testing)

To perform genetic testing:

  1. The specific NF2 mutation must first be identified in a family member who has NF2.
  2. Once identified, relatives at 50% risk can be tested.

If a relative:

  • Has the mutation → They need regular screening for tumors.
  • Does not have the mutation → They will not develop NF2 and do not require NF2-specific screening.

Limitations:

  • Finding the exact mutation can be time-consuming and expensive
  • Sometimes the mutation is not identified, even when NF2 is clearly present
  • In these cases, testing may rely on DNA markers near the gene and family patterns of onset

In Grand Rapids, genetic counseling and testing for NF2 may be accessed through:

  • Hospital-based genetics programs (Corewell Health, Trinity Health Grand Rapids, Metro Health)
  • University-affiliated specialty clinics
  • Referrals from primary care providers or neurologists

Living With Neurofibromatosis in Grand Rapids, MI

People with NF1 or NF2 benefit from ongoing, coordinated care, which may include:

  • Primary care (family doctor or pediatrician)
  • Neurology
  • Genetics
  • Dermatology
  • Orthopedics
  • Ophthalmology
  • Audiology
  • Oncology or neuro-oncology
  • Physical and occupational therapy
  • Educational support services

Local Considerations

  • Cold, icy winters in West Michigan can be challenging for people with balance problems or bone weakness.
    • Use proper footwear, assistive devices if recommended, and be cautious outdoors.
  • Seasonal mood changes and reduced sunlight can affect overall well-being. Talk with your provider if you notice changes in mood or sleep.
  • The Kent County Health Department and Grand Rapids Public Health can provide information on local medical and support resources.

When to See a Doctor

Contact a healthcare provider in Grand Rapids if you or your child has:

  • Multiple café-au-lait spots
  • Unusual freckling (armpits/groin)
  • Multiple skin bumps or lumps
  • Unexplained hearing loss or ringing in the ears
  • Balance problems, frequent falls, or dizziness
  • Changes in vision, headaches, or new neurologic symptoms
  • Rapid growth or pain in an existing neurofibroma

Early evaluation can help:

  • Confirm or rule out NF1 or NF2
  • Start appropriate monitoring and treatment
  • Connect you with genetic counseling and support services

Where to Get Help in Grand Rapids, Michigan

  • Your primary care provider or pediatrician
  • Neurology and genetics clinics at:
    • Corewell Health (Spectrum Health) – including Helen DeVos Children’s Hospital
    • Trinity Health Grand Rapids
    • Metro Health – University of Michigan Health
    • Mercy Health and affiliated specialty practices
  • Kent County Health Department – information and referral to local resources
  • Grand Rapids Public Schools and area school districts – evaluation and support for learning difficulties
  • National neurofibromatosis organizations (for education, support groups, and advocacy)

Key Points

  • Neurofibromatosis type 1 (NF1) is the most common form and often causes:
    • Café-au-lait spots
    • Freckling in unusual areas
    • Benign skin and nerve tumors (neurofibromas)
    • Learning difficulties and occasional bone problems
  • Many people with NF1 in Grand Rapids are mildly affected, but some develop more serious issues that require specialist care.
  • Plexiform neurofibromas can significantly affect appearance in about 5% of cases and may need treatment at specialized centers.
  • Neurofibromatosis type 2 (NF2) is rarer and primarily affects the hearing and balance nerves through vestibular schwannomas.
  • Both NF1 and NF2 are usually inherited in an autosomal dominant pattern, but up to 50% of cases arise from spontaneous mutations.
  • Early diagnosis, regular monitoring, and coordinated care through Grand Rapids health systems can greatly improve quality of life for people living with neurofibromatosis.