Late Onset Tay-Sachs Disease

Coping with a Rare Condition


Tay-Sachs disease is a rare inherited condition where the absence of an enzyme called beta-hexosaminidase A (HexA) causes fatty substances to build up in the brain and nerve cells, which damages the brain and spinal cord.

Individuals affected by late onset Tay-Sachs often have a small amount of HexA, which means the onset and progression of symptoms occur slower than in the infantile and juvenile forms of the disease.

You may see Tay-Sachs disease referred to as “GM2 gangliosidosis” or “GM2” in scientific literature.

Symptoms of late onset Tay-Sachs disease typically appear adolescence and into adulthood.

There is currently no cure for Tay-Sachs disease, but there are treatments to manage symptoms. The main symptom management issues for individuals affected by late onset Tay-Sachs are mobility, speech, and mental health.


Tay-Sachs disease is a rare genetic condition that’s passed from parents to children. It is a recessive disorder, which means that both parents must carry the gene for it to be passed on to a child.


Tay-Sachs disease exists on a spectrum, and every individual will experience it differently.

Often, individuals will reflect on their childhood and realize they experienced symptoms like speech difficulties or lack of athleticism long before receiving a diagnosis. Sometimes late onset Tay-Sachs is misdiagnosed as multiple sclerosis (MS) or amyotrophic lateral sclerosis (ALS).

Some of the first signs you may experience are:

  • Clumsiness
  • Muscle weakness in the legs
  • Mental health symptoms, such a bipolar episodes or psychosis (Read more here about the psychiatric impact.)

As the disease progresses, you may experience:

  • Gradual loss of skills, leading to the need for mobility assistance
  • Difficulty speaking and swallowing

The Late Onset GM2 Gangliosidosis FDA Patient Listening Session took place in January 2021. Read the summary.

Newly Diagnosed

To make a diagnosis, your clinician will order a diagnostic blood test to check the levels of HexA in the blood. Genetic testing and a metabolic evaluation may be recommended. Often a neurologist or geneticist will confirm the diagnosis.

First Steps

It’s normal to feel overwhelmed when receiving a diagnosis. Take the time you need to absorb the news and process your emotions. Consider reaching out to family, friends, and neighbors to build a support network to help you today and moving forward.

You’re always welcome to reach out to our Family Services Team for information, advice, and support at any point in your experience.

When you’re ready, the following steps will help you get organized and move forward.

  • Gather Key Information: Use a notebook, folder, or binder to collect information, adding to it as you go. Important information to gather includes:

    • Where the evaluation/assessment was done
    • Where the diagnosis was made
    • Healthcare provider name(s) and contact information
    • Handouts and resources
    • Important telephone numbers and addresses
    • Copies of assessment reports, diagnostic and imaging tests, lab reports, and medications

    Please note: There are several health management apps available to help track this information. If you decide to use one, be sure to review its data privacy policies.

  • Learn about Government Resources: There are a variety of government resources for which you may be eligible. Learn about the Social Security Disability Insurance (SSDI) and Supplemental Security Income (SSI) programs that provide assistance to people who meet the program requirements for a disability. You may also be eligible for support from the Medicare and Medicaid programs.

  • Find a Healthcare Provider: We recommend finding a physician or neurologist that you’re comfortable with rather than one who has experience with Tay-Sachs disease. Look for a healthcare provider who makes you feel comfortable, answers your questions, listens to your concerns, and supports your wishes with respect to managing the disease. In addition to providing physical care, your healthcare provider will also partner with you on insurance coverage issues, as needed.

  • Get to Know Your Insurance Policy: Review the coverage offered by your insurance policy to better understand eligibility requirements, benefits, regulatory information, and grievance procedures.

  • Ask for an Insurance Case Manager: Contact your insurance company and ask for a dedicated case manager, who will get to know your specific medical needs so you won’t have to explain the diagnosis each time. A dedicated case manager will help you get the best insurance coverage possible.

Symptom Management

While there is currently no cure for late onset Tay-Sachs disease, it is possible to manage symptoms like swallowing difficulties and issues with mobility, communication, and mental health.

Living with Late Onset Tay-Sachs Disease

When planning your future, it’s important to consider the ways late onset Tay-Sachs may affect your employment and housing, and learn about the technological resources that can help with accessibility.

How to Help

If a friend or family member has been diagnosed with late onset Tay-Sachs disease, you may not know how to help. The best thing you can do is be there for them. Here are five ways to get you started:

  1. Offer concrete help like picking up groceries, cooking meals, housecleaning, or running errands.
  2. Learn about late onset Tay-Sachs disease to learn about some of the symptoms they may be experiencing.
  3. Provide companionship by dropping in with coffee and a treat or inviting them out for a walk. If you’re out of town, try to visit in a way that won’t disrupt their daily routine.
  4. Listen with empathy and understanding knowing they will experience a wide range of emotions.
  5. Be a resource but don’t give advice.

We’re Always Here to Help

Getting a Tay-Sachs diagnosis can be overwhelming. It’s hard to know what to do first. Our Family Services Team is here to help. They’ll answer your questions, share information and invite you to connect with our caring and helpful Community.

We Care for Rare

Facu y Giuli
Juvenile Tay-Sachs Disease

“Facu (12) y Giuli (16) ellos aman viajar y divertirse en familia”

Alejandra Saipert, Madre