Tuberous Sclerosis in Grand Rapids, Michigan

Tuberous sclerosis complex (TSC) is a genetic condition that can affect many parts of the body. Its hallmark feature is the growth of non-cancerous (benign) tumors in the brain and other organs, including the kidneys, heart, liver, skin, and lungs.

In people with TSC, some growths begin to form in the brain before birth, while others may appear later in childhood, adolescence, or adulthood.

In the Grand Rapids, MI area, children and adults with suspected TSC are often evaluated and treated through major health systems such as Corewell Health (formerly Spectrum Health), Trinity Health Grand Rapids, Metro Health – University of Michigan Health, and Mercy Health, often in collaboration with specialists in neurology, genetics, nephrology, dermatology, and cardiology.

How Common Is Tuberous Sclerosis?

Tuberous sclerosis is considered a rare disease. It is estimated that about 1 in 6,000 to 10,000 people have TSC. Many people with TSC in West Michigan may not be diagnosed until later in childhood or even adulthood, especially if symptoms are mild.

While TSC can be serious, many people born with TSC lead active, independent lives, especially when the condition is diagnosed early and monitored regularly.

What Causes Tuberous Sclerosis?

Tuberous sclerosis is caused by a change (mutation) in one of two genes:

  • TSC1
  • TSC2

These genes normally help control cell growth. When one of these genes does not work properly, cells can grow and divide in an uncontrolled way, forming benign tumors in different organs.

Inherited vs. New (Spontaneous) Mutations

  • In about two-thirds of cases, there is no family history. The genetic change happens randomly in that person (a spontaneous mutation).
  • In about one-third of cases, TSC is inherited from a parent who has the condition.
  • TSC follows an autosomal dominant pattern of inheritance. This means a person with TSC has a 50% chance of passing the condition to each child.

Symptoms of Tuberous Sclerosis

Symptoms of TSC vary widely from person to person, even within the same family. Some people have very mild signs, while others have more serious complications.

The symptoms depend on:

  • Which organs are affected
  • The size and number of tumors
  • The age of the person

Common Skin Symptoms

Skin signs are often the first visible clue that leads to a TSC diagnosis. In Grand Rapids clinics and dermatology practices, providers look for:

  • Ash leaf patches

    • White or light patches of skin that lack pigment
    • Often shaped like a leaf
    • May be present at birth or appear in early childhood
    • Commonly seen on the trunk, arms, or legs

  • Shagreen patch

    • Thickened, slightly raised, textured patch of skin
    • Feels a bit like orange peel
    • Often located on the lower back
    • May be present at birth or develop later in childhood

  • Facial angiofibromas

    • Small, reddish or pink bumps across the nose and cheeks
    • Often start as tiny red “pin-points” and then become small raised lumps
    • Typically appear in childhood and may become more noticeable in the teen years

  • Periungual or subungual fibromas

    • Small, firm bumps around or under the fingernails or toenails
    • Often appear during adolescence or adulthood

Brain and Nervous System Symptoms

TSC frequently affects the brain, which can lead to:

  • Seizures (epilepsy)

    • About 80% of people with TSC experience seizures
    • Some babies develop infantile spasms within the first few months of life
    • Seizures may improve over time but often require long-term medication
    • Early seizure control is important to protect brain development

  • Developmental delay

    • Some children may reach milestones—such as sitting, walking, or talking—later than expected
    • Concerns about development are often noticeable by around age 2

  • Intellectual disability

    • Ranges from normal intelligence to mild, moderate, or severe disability
    • Educational support and early intervention services in the Grand Rapids area (through local school districts and early childhood programs) can be very helpful

  • Autism spectrum disorder (ASD) and behavioral concerns

    • Some children with TSC show features of autism, such as:
      • Limited eye contact
      • Difficulty with communication
      • Challenges with social interaction
    • Other behavioral concerns may include hyperactivity, attention difficulties, or challenging behaviors

  • Mental health concerns

    • Many teens and adults with TSC experience anxiety, depression, or mood changes
    • Local mental health services in Grand Rapids, including counseling and psychiatry, can provide important support

Other Organs Affected by TSC

TSC can affect almost any organ in the body:

  • Kidneys (renal involvement)

    • Up to 80% of people with TSC have kidney tumors (angiomyolipomas) or cysts
    • Most are benign but can cause:
      • High blood pressure
      • Bleeding
      • Kidney function problems
    • Regular kidney imaging (ultrasound, CT, or MRI) is recommended

  • Heart

    • Benign heart tumors called rhabdomyomas may be found, especially in infants
    • Often discovered on prenatal ultrasound or shortly after birth
    • Many shrink as the child grows, but they can sometimes affect heart rhythm or function

  • Lungs

    • Particularly in adult women, TSC can be associated with a lung condition called lymphangioleiomyomatosis (LAM)
    • Symptoms may include shortness of breath, chest pain, or cough
    • Lung involvement may be more noticeable in cold, dry Michigan winters, when respiratory symptoms are often more pronounced

  • Eyes

    • Benign growths in the retina (back of the eye) may occur
    • Most do not affect vision, but eye exams are important to monitor for changes

  • Bones and other organs

    • Benign bone changes and growths in the liver or other organs may also be seen

Sleep Difficulties and TSC

Many children and adults with TSC experience sleep problems, including:

  • Difficulty falling asleep
  • Frequent night awakenings
  • Irregular sleep patterns

In West Michigan, where long winter nights and early darkness can already affect sleep patterns, families may find it especially helpful to work with pediatricians, neurologists, or sleep specialists to establish healthy sleep routines.

How Is Tuberous Sclerosis Diagnosed?

Diagnosis is based on clinical evaluation, imaging, and often genetic testing. In Grand Rapids, evaluation is typically coordinated through:

  • Pediatric or adult neurology clinics
  • Genetics services
  • Dermatology, nephrology, and cardiology departments

Clinical and Imaging Tests

Common tests used to diagnose and monitor TSC include:

  • Physical examination

    • Detailed skin exam
    • Neurologic exam
    • Developmental assessment in children

  • Brain imaging

    • MRI scans to look for characteristic brain lesions and tumors

  • Kidney imaging

    • Ultrasound, CT, or MRI to detect kidney tumors or cysts

  • Heart tests

    • Echocardiogram (heart ultrasound) to check for rhabdomyomas
    • Electrocardiogram (ECG) to monitor heart rhythm

  • Eye examinations

    • Detailed eye exam to look for retinal abnormalities

Genetic Testing for TSC

A genetic test can look for changes in the TSC1 or TSC2 genes:

  • A TSC1 or TSC2 variant is found in about 70–90% of people who meet clinical criteria for TSC.
  • If a known TSC genetic variant is found in one person, family members can be tested to see if they carry the same variant.
  • If no variant is identified, this does not rule out TSC. The diagnosis can still be made based on clinical and imaging findings.

Prenatal and Pre-Implantation Testing

For women or couples in the Grand Rapids area who have a known TSC genetic variant and are planning a pregnancy, there are options to test for TSC before or during pregnancy:

  • Prenatal diagnostic testing

    • Chorionic villus sampling (CVS) or amniocentesis can test the baby’s DNA for the known TSC variant
    • Can confirm whether the baby has inherited the TSC gene change

  • Pre-implantation genetic diagnosis (PGD) with IVF

    • Used with in vitro fertilization (IVF)
    • Embryos are tested for the known TSC gene change before being transferred to the uterus
    • Only embryos without the TSC variant are selected for implantation

These services may be coordinated through regional fertility and genetics centers serving West Michigan.

Treatment Options for Tuberous Sclerosis

There is no cure for tuberous sclerosis, but many effective treatments are available to manage symptoms and reduce complications. In Grand Rapids, care is typically coordinated through multidisciplinary teams at major health systems.

Medications

  • mTOR inhibitor medicines (such as everolimus or sirolimus)

    • Target the mTOR pathway, which is overactive in TSC
    • May be used to:
      • Treat certain brain tumors (subependymal giant cell astrocytomas, or SEGAs)
      • Shrink kidney tumors (angiomyolipomas)
      • Help control some TSC-related seizures
      • Improve certain skin lesions (topical mTOR creams)

  • Anti-epileptic (anti-seizure) medicines

    • Used to control seizures
    • Medication must be carefully adjusted to avoid excessive sedation, especially in children
    • Early seizure control can help protect brain development

Surgical and Procedural Treatments

  • Brain surgery

    • In selected cases where seizures cannot be controlled with medication, surgery to remove or disconnect seizure-causing brain lesions may be considered

  • Kidney procedures

    • Interventional radiology or surgery may be needed if kidney tumors cause bleeding or threaten kidney function

  • Skin treatments

    • Dermatologists may recommend:
      • Laser therapy
      • Surgical removal of certain lesions
      • Topical mTOR inhibitor creams

Therapies and Supportive Care

  • Occupational therapy

    • Helps children develop daily living skills, fine motor skills, and strategies for sensory issues

  • Physical therapy

    • Supports gross motor development, balance, and strength

  • Speech and language therapy

    • Assists with communication delays and social communication skills

  • Behavioral and educational support

    • Individualized Education Programs (IEPs) through local Grand Rapids schools
    • Behavioral therapy for autism spectrum disorder or challenging behaviors

  • Mental health care

    • Counseling, psychology, or psychiatry for anxiety, depression, and behavioral concerns

Lifelong Monitoring and Surveillance

Tuberous sclerosis is a lifelong condition, and regular monitoring is essential. Following established TSC care guidelines helps detect problems early, when they are most treatable.

Recommended surveillance often includes:

  • Regular brain MRI scans

    • To monitor for new or growing brain tumors

  • Periodic kidney imaging

    • To check for growth or changes in kidney tumors and cysts

  • Routine blood tests

    • To monitor kidney function and medication levels

  • Regular heart evaluations

    • Especially in infants and young children with heart rhabdomyomas

  • Scheduled eye exams

    • To monitor retinal changes

  • Developmental and behavioral assessments

    • Especially in children, to ensure early support for learning or behavioral challenges

In the Grand Rapids area, coordination of this care may involve:

  • Pediatric and adult neurologists
  • Nephrologists
  • Dermatologists
  • Cardiologists
  • Geneticists
  • Primary care providers

Living With Tuberous Sclerosis in Grand Rapids, MI

Families in West Michigan dealing with TSC face unique local factors:

  • Seasonal changes and cold winters

    • Can impact mood, seizure patterns (due to illness/fevers), and lung symptoms
    • It is important to keep routine healthcare appointments even during winter and to plan ahead for safe travel to medical visits.

  • Access to regional specialists

    • Grand Rapids is a major healthcare hub for West Michigan, with access to:
      • Corewell Health (Spectrum Health)
      • Trinity Health Grand Rapids
      • Metro Health – University of Michigan Health
      • Mercy Health
    • These systems often collaborate with larger academic centers in Michigan for complex TSC cases.

  • Public health and community resources

    • Kent County Health Department and Grand Rapids Public Health can provide information on:
      • Developmental services
      • Early intervention programs
      • Vaccinations and general pediatric care

Where to Get Help

If you or your child in the Grand Rapids area has signs or symptoms of tuberous sclerosis, consider contacting:

  • Your primary care provider or pediatrician
  • A neurologist (pediatric or adult)
  • A dermatologist (for skin signs of TSC)
  • A genetic counselor or clinical genetics service
  • An occupational therapist, speech therapist, or physical therapist for developmental support

Local and national support organizations can also provide education and connection to other families living with TSC.

Key Points About Tuberous Sclerosis

  • Tuberous sclerosis is a genetic condition caused by changes in the TSC1 or TSC2 genes.
  • A change in either gene can lead to uncontrolled cell growth and benign tumors in multiple organs.
  • Symptoms may include:
    • White patches of skin
    • Facial rash of red pin-points that become small bumps
    • Seizures (epilepsy)
    • Delayed development and learning difficulties
    • Autism spectrum disorder and behavioral challenges
    • Sleep difficulties
  • Any organ can be affected, including the brain, kidneys, heart, lungs, liver, eyes, and skin.
  • Early diagnosis and regular surveillance (MRI, imaging, blood tests, and exams) provide more options for early treatment.
  • Appropriate, ongoing care—including medications, surgery when needed, and supportive therapies—can help protect health and improve quality of life for people with TSC in Grand Rapids and throughout West Michigan.