Healthcare providers are always welcome to consult with our Family Services Team about specific issues so they can care for individuals affected by late onset Tay-Sachs disease.
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Overview
Tay-Sachs disease is a rare inherited condition where the absence of an enzymeAccording to Genome.gov, an enzyme is a biological catalyst and is almost always a protein. It speeds up the rate of a specific chemical reaction in the cell. The enzyme is not destroyed during the reaction and is used over and over. More 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.
Cause
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 geneOften referred to as the "unit of heredity." A gene is composed of a sequence of DNA required to produce a functional protein. More for it to be passed on to a child.
Symptoms
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.
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.
Individuals affected by late onset Tay-Sachs often experience the progressive loss of mobility, including frequent falls, difficulty moving from one place to another, and feeling exhausted after short bursts of activity.
A physical therapist can develop an exercise program to address your mobility challenges. They can also order mobility aids like motorized wheelchairs and stairway chairs and show you how to use them. The American Physical Therapy Association (APTA) has a searchable database of physical therapists.
An occupational therapist can help you stay independent by providing tools and strategies for driving and engaging in your favorite activities, as well as suggesting practical modifications to your home and workplace. They can also order adaptive aids and show you how to use them. The American Occupational Therapy Association (AOTA) has a searchable database of occupational therapists.
The services of physical therapists and occupational therapists may be covered by your insurance plan. Be sure to check with your insurance case manager.
Communication challenges vary in nature and severity depending on the individual. You may experience challenges such as stuttering, difficulty reading and writing, and speaking too quickly or too slowly.
A Speech Language Pathologist (SLP) can help you develop strategies to address these issues and maximize your ability to communicate with others. They can also help address swallowing problems and prevent respiratory infections caused by aspirationThe inhalation of either food or stomach contents into the lower airways. This can lead to aspiration pneumonia and aspiration pneumonitis. Although these two diagnoses are managed differently, they are often interchangeably referred to as aspiration pneumonia. More.
Typically, a clinician will provide a referral to an SLP. Their services may be covered by your medical insurance. The American Speech Language Hearing Association (ASHA) has a searchable database of SLPs across the United States.
Eating and drinking safely can be common challenges for people affected by late onset Tay-Sachs disease. A Speech Language Pathologist (SLP) can help you develop strategies to address swallowing problems and prevent respiratory infections caused by aspiration. They can also address communication challenges such as stuttering and difficulty reading and writing.
Typically, a clinician will provide a referral to an SLP. Their services may be covered by your medical insurance. The American Speech Language Hearing Association (ASHA) has a searchable database of SLPs across the United States.
Mental health issues vary depending on the individual and tend to fall in three categories: emotional health, cognitive health, and psychiatric health.
Emotional health: It can be challenging to learn to adjust to new symptoms and challenges that may arise due to late onset Tay-Sachs disease. Be sure to care for your emotional health by managing stress, spending time with people you care about, and asking for help when you need it.
Cognitive health: You may experience cognitive challenges such as reduced memory, short attention span, and difficulty with numbers and calculations. If you notice that these challenges are interfering with your daily activities, seek help from a mental health professional like a psychiatrist.
Psychiatric health: You may experience:
- Symptoms like disorientation, hallucinations, obsessive compulsive behavior, paranoia
- Mood disorders like anxiety, depression, bipolar disorder
In some cases, individuals with late onset Tay-Sachs have reported experiencing a psychoticPsychosis is a loss of contact with reality, typically including delusions (false ideas about what is taking place or who one is) and hallucinations (seeing or hearing things that aren't there). More episode during childbirth. A mental health professional like a psychiatrist can monitor individuals and develop strategies to address psychosis should it arise during delivery.
Clinicians can read more here to learn about how LOTS can have a psychiatric impact on adults diagnosed with Late Onset Tay-Sachs.
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.
It is up to you whether you choose to disclose your diagnosis with your employer. Whatever you decide, the Americans with Disabilities Act requires that employers provide reasonable accommodations for individuals with disabilities and prohibits discrimination on the basis of disability in all aspects of employment.
Other resources include:
- Family and Medical Leave Act (FMLA), which enables eligible employees to take unpaid, job-protected leave with the continuation of group health insurance coverage.
- Health Insurance Portability and Accountability Act (HIPAA), which protects your health information privacy rights.
- Consolidated Omnibus Budget Reconciliation Act (COBRA), which enables you to buy into health insurance if you leave your job.
When considering your long-term housing needs, think about how your needs may change in the next 5–15 years. You may consider modifications like replacing steps with ramps, installing a stair lift, ensuring there is a bathroom and a bedroom on the first floor, installing a walk-in bathtub or creating wider doorways and hallways.
In addition to home modifications, consider whether you need support from a personal care attendant. These healthcare professionals can assist with cooking, personal grooming, driving to appointments, and other services. You may be eligible for assistance that covers all or part of these services.
Available funding resources vary by state, city, county, and community. Our Family Services Team can help you navigate the services, funding and resources you need to live safely on your own. They can also help you find appropriate housing in your region.
There are a variety of online resources available to help you adapt your technology and navigate assistive technology:
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:
- Offer concrete help like picking up groceries, cooking meals, housecleaning, or running errands.
- Learn about late onset Tay-Sachs disease to learn about some of the symptoms they may be experiencing.
- 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.
- Listen with empathy and understanding knowing they will experience a wide range of emotions.
- 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.
