Tay-Sachs Disease in Grand Rapids, Michigan

Tay-Sachs disease (TSD) is a rare, inherited neurological condition that affects the brain and spinal cord. It is caused by a change (mutation) in a gene on chromosome 15 called HEXA. This gene provides instructions for making an enzyme called beta-hexosaminidase A (HexA).

Tay-Sachs disease is seen more often in people of Ashkenazi Jewish, French-Canadian, and some Cajun and Irish backgrounds, but it can occur in any ethnic group, including families living in Grand Rapids and West Michigan.

If Tay-Sachs disease runs in your family or you are planning a pregnancy in Grand Rapids, local genetic counseling and testing services are available through major health systems such as Corewell Health (formerly Spectrum Health), Trinity Health Grand Rapids, Metro Health – University of Michigan Health, and the Kent County Health Department.

How Tay-Sachs Disease Affects the Nervous System

Tay-Sachs disease is a degenerative (progressive) condition, meaning symptoms worsen over time.

What happens in the brain?

  • Nerve cells (neurons) in the brain and spinal cord need the HexA enzyme to break down a fatty substance called GM2 ganglioside.
  • In children with Tay-Sachs disease, the HEXA gene is altered and the body does not make enough working HexA enzyme.
  • Without HexA, GM2 ganglioside builds up inside nerve cells.
  • Over time, this buildup damages and destroys nerve cells, leading to:
    • Progressive weakness
    • Loss of skills
    • Paralysis
    • Severe neurological problems

Who is affected?

  • Males and females are affected equally.
  • Babies with the most common, “classic” form of Tay-Sachs disease usually appear healthy at birth.
  • Symptoms typically begin around 6 months of age in a previously healthy infant.
  • Sadly, the life expectancy for children with classic Tay-Sachs disease is usually around 4–5 years, and there is currently no cure or effective treatment to stop the disease.

Inheritance: How Tay-Sachs Disease Is Passed Down

Autosomal recessive inheritance

The genes in our cells come in pairs—one copy from each parent. Tay-Sachs disease follows an autosomal recessive inheritance pattern:

  • The HEXA gene is located on one of the non-sex chromosomes (an autosome).
  • A person must inherit two altered copies of the HEXA gene (one from each parent) to develop Tay-Sachs disease.
  • A person with one normal copy and one altered copy is called a carrier. Carriers do not have Tay-Sachs disease and usually have no symptoms.

If both parents are carriers

If a male and a female are both carriers of an altered HEXA gene and conceive a child, with each pregnancy there is:

  • 25% (1 in 4) chance the child will have Tay-Sachs disease
  • 50% (2 in 4) chance the child will be a carrier (like the parents)
  • 25% (1 in 4) chance the child will inherit two working genes and be completely unaffected (not a carrier)

If only one parent is a carrier

  • None of the children will develop Tay-Sachs disease.
  • Each child has a 50% chance of being a carrier.

Being a carrier of Tay-Sachs disease does not pose a health risk to the carrier. One working copy of the HEXA gene is enough to produce sufficient HexA enzyme for normal brain and spinal cord function.

Symptoms of Tay-Sachs Disease in Infants

The classic infantile form of Tay-Sachs disease usually shows symptoms between 3 and 6 months of age. Parents in Grand Rapids may first notice that their baby is not meeting developmental milestones, especially during routine checkups with local pediatricians or at children’s hospitals such as Helen DeVos Children’s Hospital (part of Corewell Health).

Common early symptoms include:

  • Movement and developmental problems

    • Loss of ability to smile, reach out, or hold onto objects
    • Loss of previously learned skills (such as rolling over)
    • Difficulty turning over or sitting up
    • Muscle weakness and decreased movement

  • Neurological symptoms

    • Seizures
    • Exaggerated startle response to loud noises
    • Vision and hearing impairment over time
    • Reduced awareness of surroundings as the disease progresses

If you notice these signs in your baby in Grand Rapids or anywhere in West Michigan, contact your pediatrician or family doctor promptly for evaluation and referral to a pediatric neurologist or clinical geneticist.

Testing and Diagnosis of Tay-Sachs Disease

If Tay-Sachs disease runs in your family, or if your child is showing concerning symptoms, testing can help clarify the diagnosis and carrier status.

1. Enzyme (HexA) blood test

A common first step is to measure the level of the HexA enzyme in the blood:

  • Carriers have about 50% of the normal HexA level.
  • People with Tay-Sachs disease have very low or no HexA activity.
  • This level of enzyme is enough for normal brain function in carriers, but not in affected individuals.

2. Genetic (DNA) testing

If the enzyme test suggests Tay-Sachs disease or carrier status, the diagnosis can be confirmed by examining the HEXA gene:

  • A DNA sample is usually collected from cells lining the inside of the cheek.
  • This can be done by:
    • Swishing water in the mouth and spitting it into a container (mouthwash test), or
    • Gently wiping the inside of the cheek with a cotton swab.
  • The laboratory then looks for known HEXA gene mutations.

Genetic testing is more precise than enzyme testing and is especially useful for:

  • Confirming a diagnosis
  • Identifying carriers
  • Prenatal diagnosis in future pregnancies

Genetic Counseling in Grand Rapids, MI

If you, your child, or a family member has been diagnosed with Tay-Sachs disease—or if it runs in your family—it is very helpful to speak with a genetic counselor.

What genetic counselors do

Genetic counselors are health professionals trained in both genetics and counseling. They can:

  • Explain what Tay-Sachs disease is and how it affects the nervous system
  • Clarify how it is inherited and your family’s risk
  • Discuss testing options for you and other family members
  • Review reproductive options if you and your partner are both carriers
  • Provide emotional support and resources tailored to your culture, beliefs, and family situation
  • Help coordinate testing for relatives who live in Michigan or elsewhere in the United States

Local and regional resources

In the Grand Rapids and West Michigan area, you can seek genetic counseling and testing through:

  • Corewell Health (Spectrum Health) – Genetics & Genetic Counseling
  • Trinity Health Grand Rapids – Medical Genetics services
  • Metro Health – University of Michigan Health
  • Helen DeVos Children’s Hospital (for pediatric genetics and neurology)
  • Kent County Health Department and Grand Rapids Public Health for referrals to specialty care

There are also statewide and national organizations that support families affected by Tay-Sachs disease, such as:

  • Genetic Support Network of Michigan (GSNM)
  • National Tay-Sachs & Allied Diseases Association (NTSAD)
  • Other rare disease and genetic support organizations that can connect you with families across Michigan and the United States

Family Planning and Prenatal Testing

If testing shows that both you and your partner are carriers for Tay-Sachs disease, a genetic counselor can discuss several reproductive options, which may include:

  • Prenatal testing during pregnancy
    • Chorionic villus sampling (CVS)
    • Amniocentesis
  • In vitro fertilization (IVF) with preimplantation genetic testing (PGT) to select embryos without Tay-Sachs disease
  • Use of donor egg or sperm from a non-carrier
  • Adoption or choosing not to have biological children

These decisions are personal and often complex. Genetic counselors in Grand Rapids can help you explore your options in a way that respects your values, beliefs, and family goals.

Living With Tay-Sachs Disease in Grand Rapids

While there is no cure, children with Tay-Sachs disease and their families can benefit from supportive care and local resources:

  • Pediatric neurology and palliative care through major Grand Rapids health systems
  • Physical, occupational, and speech therapy to maximize comfort and function
  • Seizure management with pediatric neurologists
  • Home health and hospice services in West Michigan
  • Emotional and social support through:
    • Local support groups
    • Faith communities
    • Social workers and counselors

Grand Rapids families may also face seasonal challenges—such as cold, snowy winters—that can affect transportation to medical appointments and increase the risk of respiratory infections. Care teams can help you plan for:

  • Flu and respiratory virus prevention
  • Managing equipment and medications safely in winter weather
  • Coordinating telehealth visits when possible

Key Points About Tay-Sachs Disease

  • Tay-Sachs disease is caused by a change in the HEXA gene on chromosome 15.
  • It is more common in people of Ashkenazi Jewish and French-Canadian descent, but can affect any ethnic group, including families in Grand Rapids and West Michigan.
  • Tay-Sachs disease is a degenerative neurological condition—symptoms worsen over time.
  • Symptoms usually begin around six months of age in a previously healthy baby.
  • The life expectancy for children with classic Tay-Sachs disease is typically around five years, and there is currently no effective treatment to stop the disease.
  • Tay-Sachs is inherited in an autosomal recessive pattern; both parents must be carriers for a child to be affected.
  • Carriers do not have symptoms and are generally healthy.
  • Enzyme testing (HexA levels) and genetic testing (HEXA gene analysis) can identify affected individuals and carriers.
  • Genetic counseling and specialty care are available in Grand Rapids through major health systems and state genetic support networks.

If you live in the Grand Rapids, MI area and are concerned about Tay-Sachs disease or your family’s genetic risk, start by talking with your primary care provider or pediatrician, who can refer you to local genetic counseling and testing services.