Infantile Sandhoff Disease

Caring for Children with a Rare Condition

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Overview

Sandhoff disease is a rare lysosomal storage disease where the absence of two vital enzymes called beta-hexosaminidase A (HexA) and beta-hexosaminidase B (HexB) causes fatty substances to build up in the nerve cells, which damages the brain and spinal cord.

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

Symptoms of infantile Sandhoff disease typically appear between the ages of 3-6 months.

There is currently no cure for Sandhoff disease, but there are treatments to help manage symptoms and maintain a baseline for as long as possible. Children with infantile Sandhoff disease often need support with respiratory health and managing seizures.

Cause

Sandhoff 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.

Symptoms

Sandhoff disease exists on a spectrum, and every individual experiences it differently.

Between 3–6 months of age, you may notice your child:

  • Begins to regress
  • Does not achieve the milestones that neurotypical children achieve
  • Exhibits a strong startle response

Between 6–23 months, you may notice your child:

  • Continues to regress
  • Loses development milestones gained, like sitting up with assistance or rolling over
  • Begins to lose strength in swallowing, leading to increased episodes of aspiration
  • Experiences more episodes of respiratory illness caused by aspiration
  • Begins to experience seizures

At 24 months and onward, you may notice your child:

  • Experiences increased seizure activity
  • Becomes less engaged with surroundings and less responsive to stimulation
  • Has an increased need to manage secretion as they lose the ability to swallow mucus on their own
  • Experiences increased episodes of respiratory illness

Newly Diagnosed

To confirm a diagnosis, your clinician will order a diagnostic blood test to check the levels of HexA and HexB in the blood. Genetic testing and metabolic evaluation may be recommended, as well as an eye exam to check for a distinctive cherry-red spot in the back of the eyes.

First Steps

When your child gets a Sandhoff disease diagnosis, it’s normal to feel overwhelmed. 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 your child’s evaluation/assessment was done
    • Where your child’s 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.

  • Apply for a Medicaid Waiver: Typically, there is a waiting period for Medicaid – the length of time depends on the state.

    To apply for a Medicaid waiver in your state, call toll-free (877) 267-2323 or visit the Medicaid website (Medicaid.gov) for more information.

    Please note: The Kids’ Waivers website is an excellent resource on Medicaid waivers and programs for children.

  • Apply for Social Security Disability Insurance: Please note: Infantile Sandhoff disease is on the Compassionate Allowance list to expedite your application on behalf of your child.

    Visit the Social Security website to apply for Social Security Disability Insurance for Children.

  • Start Building a Healthcare Team: Your child will be supported by a healthcare team that includes clinicians, pediatricians, neurologists, gastroenterologists, and pulmonologists. As well as providing physical care to your child, they will also help you advocate with insurance companies and school systems, as needed.

    Because Sandhoff is a rare disease, it’s possible that healthcare providers in your region haven’t treated a child with the disease. In this case, try to find a pediatrician or specialist who makes you feel comfortable, answers your questions, listens to your concerns, and supports your family’s Philosophy of Care.

  • 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 loved one’s 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.

Philosophy of Care

Your Philosophy of Care is a clear plan that outlines your goals for your child’s care and health management. It includes the interventions you would like to use (and avoid) and reflects what you think will work best for you and your family.

Benefits of Having a Philosophy of Care

Overall, a Philosophy of Care lets you think through how you’d like to care for your child and communicate that information with your healthcare team. Specifically, your Philosophy of Care is vital during an emergency when it’s difficult to think clearly and make decisions quickly.

Every family’s Philosophy of Care is different—ranging from few interventions, moderate interventions, and more interventions—and we support all families in their decisions.

Make Your Own Philosophy of Care

To build a Philosophy of Care, begin by jotting down thoughts and ideas as you research the disease, consult with healthcare providers, and discuss with your partner, family, close friends, and others. You may find you have a clear plan within days, or it might take weeks or months. Keep in mind that the Philosophy of Care isn’t written in stone. If a goal doesn’t serve your family anymore, it’s okay to change it or remove it altogether.

You can make your own Philosophy of Care or download our template here.

Symptom Management

While there is currently no cure for infantile Sandhoff disease, it is possible to manage symptoms like seizures and trouble swallowing as guided by your Philosophy of Care.

We recommend that you develop a respiratory health management plan with your pediatrician and consult with a pulmonologist for advanced respiratory health needs and management.

Children with infantile Sandhoff disease are prone to lung infections because of increased saliva and mucus and reduced swallowing. There are many options available to promote respiratory health, including:

  • Limiting exposure to people who may be sick
  • Equipment (e.g., a respiratory therapy vest or positioning equipment)
  • Taking extra precaution to make sure your child does not aspirate during feeding if they are eating or drinking orally. If you notice coughing episodes after eating orally, you may want to discuss a swallow study with your child’s care team.
  • Speaking with your care team about how to manage secretions (e.g., suction machine, Botox treatments for the salivary glands, positioning)

All children with infantile Sandhoff disease will experience seizures. Some children respond well to seizure medications, while others do not. It can be a challenge to manage seizures and avoid side effects of medication, like drowsiness or increased secretions.

A trusted neurologist will help you manage seizures and develop a seizure management plan. We recommend finding a neurologist before your child experiences a seizure.

For more information on seizures:

Children with infantile Sandhoff disease will experience experience a loss of strength in the muscles that assist with swallowing, which causes difficulty swallowing. A speech language pathologist can provide techniques to promote the suck-swallow reflex and can show you proper positioning techniques to reduce the risk of aspiration pneumonia and reflux.

One of the biggest decisions you’ll make when it comes to care is whether to use a feeding tube when swallowing becomes too difficult. If you do wish to use a feeding tube, a swallow test can help determine when it is time to do so.

For more information on feeding and nutrition:

Even if they have some sensory impairment, your child will enjoy play and activities that provide stimulation. Some ideas include hanging bright, shiny mobiles, listening to different kinds of music, smelling kitchen spices and seasonal flowers, and touching different materials to see how they feel. Experiment to see what your child enjoys to encourage their development and make memories together.

Other forms of sensory stimulation include physical therapy, music therapy, and aqua therapy.

Complementary therapy can be used alongside traditional medicine to provide comfort and relaxation. Some examples of complementary therapy include physical therapy and massage.

Be sure to consult with your healthcare team before incorporating complementary therapy into your care routine.

For more information on complementary therapy:

How to Help

If your family member or close friend has a child diagnosed with infantile Sandhoff disease, you may not know how to help. The best thing you can do is be there for them. Caregiving is incredibly time consuming and is emotionally and physically draining. It can also feel very lonely, and parents may struggle to ask for help.

There are many ways to help children, families, and siblings. Here are seven ways to get you started:

  1. Offer concrete help like picking up groceries, caring for siblings, cooking meals, doing the laundry, housecleaning, or offering to babysit.
  2. Learn about infantile Sandhoff disease to get to know what 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.
  6. Get to know their special child by asking parents what they would like. You might offer to read a story, sing a song, or bring a soft stuffed toy to snuggle.
  7. Engage with siblings and invite them on special outings or your own family gatherings.

We’re Always Here to Help

Getting a Sandhoff disease diagnosis can be overwhelming. It’s hard to know what to do first. Or Director of Family Support, Becky Benson is here to help. She’ll answer your questions, share information, and invite you to connect with our caring and helpful Community.

We Care for Rare

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