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Leading the Fight to treat and cure
Tay-Sachs, Canavan, Sandhoff, GM1 and related diseases

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Tay-Sachs, Sandhoff and GM1 Late Onset Support

Support for Families

Families dealing with adult Late Onset Tay-Sachs, Sandhoff or GM1 gangliosidosis disease, known as Lysosomal Storage Diseases, have common symptoms and common approaches for managing the symptoms.  Read through this section to learn about various symptom management techniques, where to find help, and how to cope.

Newly Diagnosed

Communication Skills

Swallowing Difficulties

Employment

Housing

Mental Health

Mobility

Technology Resources

Family Information Packet

NTSAD offers a free information packet that includes materials on;

  • symptom management
  • research updates
  • how to cope

Request it today by completing our online request form: Contact Us.

Adult Late Onset
Tay-Sachs, Sandhoff and GM1 diseases

I have, or someone I love, has just been diagnosed with Late Onset (LOTS) Tay-Sachs, Sandhoff or GM-1, now what?

Take a deep breath and know that you've come to the right place. You've likely been on a long road to diagnosis and now you finally have an answer, but now what? 

NTSAD can help you:

  • Understand the diagnosis and symptom management options
  • Keep updated on research efforts
  • Connect with other individuals and families that truly understand


Getting Started:

  • Contact Diana Pangonis, Director of Family Services at This email address is being protected from spambots. You need JavaScript enabled to view it. or (800) 906-8723.
  • Read the Newly Diagnosed pages
  • Share the pdf LOTS Medication Study (60 KB) with your treating physician.
  • Contact Diana anytime with questions, issues and/or concerns.



Late Onset first steps
Tay-Sachs, Sandhoff and GM1 diseases

A diagnosis of Late Onset is overwhelming.  Taking action is a great way to cope and prepare for the changes down the road. Putting these things in place will simplify managing the disease giving you more time to enjoy life. 

Follow these 5 steps:

1. Get Organized

Make a folder or notebook for all the information related to LOTS. Many find it convenient to buy a three-inch/three-ring binder notebook and use dividers for the various sections of assessment, treatment, resources, therapy and correspondence. Electronic files can help keep you organized - be sure to keep the files backed-up.

The following information should be kept in the notebook.

  • Where the evaluation/assessment was done, where diagnosis was made
  • Names and contact information of doctors
  • Informative hand-outs
  • Supportive resources
  • Pertinent phone numbers and addresses
  • Copies of assessment reports, diagnostic and imaging tests laboratory reports and medications

When the notebook is full, write the date on the cover and start another notebook. These notebooks will make it possible for you to look up information about your child. Take the notebooks with you to every appointment and keep them up-to-date.

2. Learn about Government Resources

Visit these sites to become familiar with available resources.

Social Security Disability
http://www.ssa.gov/pgm/disability.htm

Supplemental Security Income (SSI)
http://www.ssa.gov/pubs/11000.html#part1

Medicare and Medicaid are two different programs and you may be eligible for both. Medicaid is a state-run program; each state has its own eligibility and coverage rules.

Visit this site for more information on Medicaid    

Visit this site for more information on Medicare.

3. Find the Right Doctor

It is more important to find a treating physician or neurologist who you are comfortable with than one who has LOTS experience. Due to the rarity of the disease finding a local doctor with LOTS experience is often difficult. Instead, try to find a doctor who will work with you to manage the disease and consult with expert clinicians on the NTSAD Scientific Advisory Committee (SAC) as needed.

It is important that you:

  • Are comfortable with the doctor and healthcare team
  • Are able to communicate your questions and concerns
  • Feel supported in your efforts to manage the disease
  • Are confident the doctor and healthcare team are partners in insurance coverage issues

The relationship with the doctor and healthcare team is a critical component of successfully managing LOTS, particularly because there have no sure-fire answers and a wide range of severity and symptoms.

4. Understand Your Policy

Familiarize yourself with the coverage offered by your current insurance policy. You will be in a far better position to advocate for yourself if you have spent time getting to know the basic elements of your plan, including:

  • Eligibility requirements - who is covered under what circumstances
  • Benefits - which services/treatments are specifically included or excluded and what are the limits on the coverage provided
  • Regulatory information  - who is responsible for enforcing the provisions of the plan, and to whom would appeals be addressed if needed
  • Grievance procedures  - what is the grievance/appeal process

5. Request an Insurance Case Manager

A case manager will become familiar with your particular medical needs and help you navigate the insurance policy to get the best coverage possible. Sometimes it is possible to negotiate the coverage; give up one type of coverage you likely will not need for another you do. It will also save you from having to explain the diagnosis repeatedly when calling the insurance company for coverage information.



Someone you love has been diagnosed with a disease without a treatment or cure. You don't know what to do. NTSAD offers a free information packet that includes materials on;

  • symptom management
  • research updates
  • how to cope

Request it today by completing our online for: Contact Us

Late Onset (LOTS)
Tay-Sachs, Sandhoff, GM1 diseases

This page describes:

Speech and Voice Challenges
How a Speach-Language Pathologist May Help
Tips for Improving Communication

 

Speech and Voice Challenges

Speech is a common challenge for people living with Late Onset (LOTS) Tay-Sachs, Sandhoff or GM1 diseases. It can affect all aspects of enjoying a full and active life.  Ways to help including working with a Speech language pathologist and reading Tips for Improving Communication, from NTSAD.

Problems with communication vary in nature and severity from person to person. Although there are commonalities, no two people with LOTS are exactly alike.  As the disease progresses, the variability continues. Many people talk so quickly their words run together, while others drop the endings of their words.  Whatever the problem a Speech Language Pathologist can help.

If you have LOTS, the following list summarizes problems that you may experience at different stages of the disease. In many cases, you may experience the same areas of difficulty throughout the course of the disease, often with increasing severity over time.

Communication challenges may be caused by any of the following:

  • Dysarthria (muscular weakness, slowness, or in-coordination of the lips, tongue, throat, and jaw)
  • Apraxia (disruption in programming and sequencing muscle movements for speech)
  • Diminished rate control (talking too fast or too slowly)
  • Poor voice quality (hoarse/harsh, breathy, volume too low or too high)
  • Dis-coordination of breathing and voice
  • Mis-articulations (incorrect pronunciation of sounds)
  • Lack of initiation (inability to initiate conversation)
  • Perseveration (getting "stuck" on certain words or phrases, repeating them often and at inappropriate times)
  • Difficulty with monitoring pragmatic skills (turn-taking in conversation; reduced ability to maintain a topic or switch topics appropriately)
  • Stuttering (difficulty beginning a word or sentence, with repetition of sounds)
  • Difficulty understanding information
  • Difficulty reading and writing
  • Short responses, only responds with one or two words
  • Omitting context which provides cues to the listener

How a speech-language pathologist (SLP) can help

If you are affected with LOTS, a speech-language pathologist can be helpful at all stages of the disease. In the early stages, a SLP can assist with problem solving and developing strategies to overcome communication challenges and help you continue to live a more full and empowered life.

Early intervention and involvement with therapeutic professionals is best because you can learn compensatory strategies more successfully during the early stages of LOTS and can then apply them throughout the course of the disease.

A SLP may recommend use of augmentative or alternative communication devices and techniques, which can be as simple as a word/picture board, or more complex, such as an electronic device that speaks for you.

For example, the SLP might work with you and your family to create a word/picture board tailored to your environment (whether it be a private residence or a long-term care facility) or flexible enough to be carried around. If an electronic device might be beneficial, the SLP, will evaluation your interest and motivation to use it, and will help make it easily accessible.

What to Expect?

During a speech-language appointment the pathologist:

  • will take a careful history of medical conditions and symptoms
  • will look at the strength and movement of the muscles involved in swallowing
  • will observe feeding to see posture, behavior, and oral movements during eating and drinking
  • may perform special tests to evaluate swallowing

It is very important for individuals with LOTS to seek speech-language therapy in order to address speech issues and maximize their ability to express themselves and communicate. Speech-language therapy can also help you address swallowing problems and help  prevent respiratory infections caused by aspiration.

How to Find a Speech Language Pathologist?

Generally your treating physician provides the referral. The SLP will coordinate with your overall health care providers and may possibly be covered by your medical insurance. 

American Speech-Language-Hearing Association (ASHA) provides an online directory of Audiology and Speech-Language Pathology Programs. Their searchable database contains listings of more than 7,000 programs that employ audiologists and speech-language pathologists who hold the Certificate of Clinical Competence (CCC) from ASHA. Find a speech-language pathologist at www.asha.org.

Tips for Improving Communications

For the speaker -

  • Speak more slowly
  • Say one word at a time
  • Repeat the word or sentence when necessary
  • Rephrase the sentence
  • Exaggerate the sounds
  • Speak louder (take deep breath before speaking)
  • Use gestures
  • Keep sentences short
  • Provide context for what you are saying
  • As a supplement to speech, use alternative communication techniques such as word boards, alphabet boards, picture boards, electronic devices

For the listener -

  • Eliminate distractions (TV's, radios, large groups of people)
  • Keep questions/statements simple
  • Ask one question at a time
  • Use yes/no question format as much as possible
  • Pay attention to gestures and facial expressions/changes
  • If you do not understand what is being said, don't pretend that you do. Ask for clarification, or repeat what you think was said in the form of a question, such as, "Did you say...?"
  • Try to keep to familiar topics
  • Allow enough time for the person to convey his/her message

Most importantly, be patient!
 

 

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