GM1 gangliosidosis (GM1) disease is a rare lysosomal storage diseaseLysosomal storage disease is a group of disorders that affect specific enzymes. These enzymes normally break down items for reuse in the cells. If the enzymes are missing or don't work properly the items can build up and become toxic. where the absence of a vital 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-galactosidase (GLB1) causes a fatty substance to build up in the nerve cells, which damages the brain and spinal cord.
Symptoms of juvenile GM1 gangliosidosis typically appear between 2-5 years of age.
There is currently no cure for GM1 disease, but there are treatments to help manage symptoms and help maintain a baselineBaseline is a technical term for “the new normal” or how things looks when they are stable. With Tay-Sachs, Canavan, GM1 gangliosidosis, and Sandhoff diseases, the baseline shifts, and often it shifts down over time like steps, where each lower step represents a lower level of functioning. for as long as possible. Children with juvenile GM1 often need support with respiratory health and managing seizuresA seizure is a sudden change in behavior due to an excessive electrical activity in the brain. There are a wide variety of possible symptoms of seizures, depending on what parts of the brain are affected. Many types of seizures cause loss of consciousness with twitching or shaking of the body. However, some seizures consist of staring spells that can easily go unnoticed. Occasionally, seizures can cause temporary abnormal sensations or visual disturbances..
GM1 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. for it to be passed on to a child.
GM1 exists on a spectrum, and every individual experiences it differently. In general, the younger the child is when symptoms first appear, the faster the disease will tend to progress.
Some of the first signs you may notice are that your child experiences:
- Regression in development, and loss of developmental milestones gained
- Loss of muscle strength
As the disease progresses, you may notice that your child experiences:
- Difficulty swallowing, leading to increased episodes of 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.
- Excessive secretions
In the late and end stages of the disease your child:
- Shifts to full dependence on caregivers for all day-to-day functions
- Continues to experience difficulty swallowing, and a feeding tube may be recommended
- Continues to experience seizures
To confirm a diagnosis, biochemical and genetic testing may be recommended. An eye exam may also be recommended to check for a distinctive cherry-red spotThe term ‘cherry red spot’ describes the appearance of the retina when viewed by an eye specialist that is associated with metabolic neurological disorders like Tay-Sachs, Sandhoff, GM-1, Niemann-Pick, MPS and other similar disorders. Warren Tay described the cherry red spot in Symmetrical changes in the region of the yellow spot in each eye of an infant, published in Transactions of Ophthalmology Society UK in 1881: …in the region of the yellow spot in each eye there was a conspicuous, tolerably defined, large white patch, more or less circular in outline, and showing at its centre a brownish-red, fairly circular spot, contrasting strongly wit the white patch surrounding it. Disappearance of the cherry-red spot is not indictiative of disease lessening. in the back of the eyes, which affects about half of children with GM1.
When your child gets a diagnosis of juvenile GM1 gangliosidosis, 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: Juvenile GM1 gangliosidosis 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 GM1 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.
While there is currently no cure for juvenile GM1 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 juvenile GM1 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 juvenile GM1 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 juvenile GM1 disease will 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 juvenile GM1 gangliosidosis, 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:
- Offer concrete help like picking up groceries, caring for siblings, cooking meals, doing the laundry, housecleaning, or offering to babysit.
- Learn about juvenile GM1 disease to get to know what 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.
- 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.
- Engage with siblings and invite them on special outings or your own family gatherings.
We’re Always Here to Help
Getting a GM1 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.