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Tay-Sachs, Canavan, GM1 and Sandhoff diseases

Infantile/Juvenile - First Steps

A diagnosis of Tay-Sachs, Sandhoff, GM-1, Canavan or any other allied disease is devastating. Taking action is a great way to cope with the overwhelming emotions. We suggest the following to help simplify managing the disease, giving you more time to enjoy being with your child.

Follow these 5 steps:

1. Get Organized

Make a folder or notebook in which you keep all the information about your child. Many parents find it convenient to buy a three-inch/three-ring binder notebook and use dividers for the various sections of assessment, treatment, school, 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. Apply for a Medicaid Waiver

Children affected by the juvenile and infantile forms of the allied diseases are eligible for Medicaid. Typically, Medicaid requires a waiting period, but because of the acute progression of the disease children are eligible for a "Medicaid Waiver" that will allow coverage to start immediately.

To learn how to apply in your state call toll-free (877) 267-2323 or visit the Medicaid.gov.

3. Find the Right Doctor

Babies and children affected by infantile and juvenile forms of an allied disease are cared for by a variety of doctors including, but not limited to, pediatricians, neurologists, gastroenterologists and pulmonologists.

Due to the rarity of these diseases it is very possible there may not be healthcare professionals close to you who have ever treated someone with your child's diagnosis before. When this occurs, NTSAD recommends finding a pediatrician or specialist that you feel comfortable with and who is willing to consult with members of NTSAD's Scientific Advisory Committee or another clinician who has some experience to ensure the best possible care.

It is important that you and your child are:

  • Comfortable with the doctor and his/her staff
  • Able to communicate your questions and concerns
  • Feeling supported in your efforts to manage the disease

You also need to feel confident that the healthcare team is a partner in your advocacy efforts with insurance companies and, when appropriate, the school system. The relationship with the doctor is a critical component of the coping and adaptation process, particularly for allied diseases for which there are 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 your child 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 child's particular medical needs and help you navigate the insurance policy to get the best coverage possible. It will also save you from having to explain the diagnosis repeatedly when calling the insurance company for coverage information.

Friends and family
often ask if there is anything they can do to help. Delegate some of these tasks to them. It is a great way to incorporate friends and family into your child's care.