Caring for Children with a Rare Condition<\/p>\n<\/div><\/div><\/div><\/div><\/div>
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Overview<\/b><\/a><\/p>\n<\/div><\/li> Cause<\/b><\/a><\/p>\n<\/div><\/li> Symptoms<\/b><\/a><\/p>\n<\/div><\/li> Newly Diagnosed<\/b><\/a><\/p>\n<\/div><\/li> First Steps<\/b><\/a><\/p>\n<\/div><\/li> Philosophy of Care<\/b><\/a><\/p>\n<\/div><\/li> Symptom Management<\/b><\/a><\/p>\n<\/div><\/li> How to Help<\/b><\/a><\/p>\n<\/div><\/li><\/ul><\/div><\/div> GM1 gangliosidosis (GM1) disease is a rare lysosomal storage disease where the absence of a vital enzyme called beta-galactosidase (GLB1) causes a fatty substance called GM1 ganglioside to build up in the nerve cells, which damages the brain and spinal cord.<\/p>\n Symptoms of infantile GM1 gangliosidosis typically appear between the ages of 3-6 months.<\/p>\n There is currently no cure for GM1 disease, but there are treatments to help manage symptoms and maintain a baseline for as long as possible. Children with infantile GM1 often need support with respiratory health and managing seizures.<\/p>\n<\/div> GM1 is a rare genetic condition that\u2019s 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.<\/p>\n<\/div> GM1 exists on a spectrum, and every individual experiences it differently.<\/p>\n Between 3\u20136 months of age, you may notice your child:<\/p>\n Between 6\u201323 months, you may notice your child:<\/p>\n At 24 months and onward, you may notice your child:<\/p>\n 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 spot in the back of the eyes, which affects about half of children with GM1.<\/p>\n<\/div> When your child gets a diagnosis of infantile GM1 gangliosidosis, it\u2019s 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.<\/p>\n You\u2019re always welcome to reach out to our Family Services Team<\/b><\/a><\/u> for information, advice, and support at any point in your experience.<\/p>\n When you\u2019re ready, the following steps will help you get organized and move forward.<\/p>\n<\/div> Gather Key Information:<\/b> Use a notebook, folder, or binder to collect information, adding to it as you go. Important information to gather includes:<\/p>\n Please note<\/b>: 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.<\/p>\n<\/div><\/li> Apply for a Medicaid Waiver:<\/b> Typically, there is a waiting period for Medicaid \u2013 the length of time depends on the state.<\/p>\n To apply for a Medicaid waiver in your state, call toll-free (877) 267-2323 or visit the Medicaid website (Medicaid.gov<\/a><\/b><\/u>) for more information.<\/p>\n Please note<\/b>: The Kids\u2019 Waivers website<\/b><\/u><\/a> is an excellent resource on Medicaid waivers and programs for children.<\/p>\n<\/div><\/li> Apply for Social Security Disability Insurance:<\/b> Please note: Infantile GM1 gangliosidosis is on the Compassionate Allowance<\/b><\/u><\/a> list to expedite your application on behalf of your child. <\/p>\n Visit the Social Security website to apply for Social Security Disability Insurance for Children<\/b><\/u><\/a>.<\/p>\n<\/div><\/li> Start Building a Healthcare Team:<\/b> 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.<\/p>\n Because GM1 is a rare disease, it\u2019s possible that healthcare providers in your region haven\u2019t 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\u2019s Philosophy of Care.<\/p>\n<\/div><\/li> Get to Know Your Insurance Policy:<\/b> Review the coverage offered by your insurance policy to better understand eligibility requirements, benefits, regulatory information, and grievance procedures.<\/p>\n<\/div><\/li> Ask for an Insurance Case Manager:<\/b> Contact your insurance company and ask for a dedicated case manager, who will get to know your loved one\u2019s specific medical needs so you won\u2019t have to explain the diagnosis each time. A dedicated case manager will help you get the best insurance coverage possible.<\/p>\n<\/div><\/li><\/ul> Your Philosophy of Care is a clear plan that outlines your goals for your child\u2019s 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.<\/p>\n Benefits of Having a Philosophy of Care<\/b><\/p>\n Overall, a Philosophy of Care lets you think through how you\u2019d 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\u2019s difficult to think clearly and make decisions quickly.<\/p>\n Every family\u2019s Philosophy of Care is different\u2014ranging from few interventions, moderate interventions, and more interventions\u2014and we support all families in their decisions.<\/p>\n Make Your Own Philosophy of Care<\/b><\/p>\n 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\u2019t written in stone. If a goal doesn\u2019t serve your family anymore, it\u2019s okay to change it or remove it altogether.<\/p>\n You can make your own Philosophy of Care or download our template here<\/a><\/b><\/u>.<\/p>\n<\/div> While there is currently no cure for infantile GM1 disease, it is possible to manage symptoms like seizures and trouble swallowing as guided by your Philosophy of Care.<\/p>\n<\/div> 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.<\/p>\n Children with infantile 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:<\/p>\n 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.<\/p>\n For more information on seizures:<\/p>\n One of the biggest decisions you\u2019ll 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.<\/p>\n For more information on feeding and nutrition:<\/p>\n Other forms of sensory stimulation include physical therapy, music therapy, and aqua therapy. Complementary therapies can be used alongside traditional medicine to provide comfort and relaxation. Some examples of complementary therapies include physical therapy and massage.<\/p>\n Be sure to consult with your healthcare team before incorporating complementary therapies into your care routine.<\/p>\n For more information on complementary therapies:<\/p>\nOverview<\/h3><\/div>
Cause<\/h3><\/div>
Symptoms<\/h3><\/div>
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Newly Diagnosed<\/h3><\/div>
First Steps<\/h3><\/div>
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Philosophy of Care<\/h3><\/div>
Symptom Management<\/h3><\/div>
Respiratory Health<\/h3><\/a><\/li>
Seizures<\/h3><\/a><\/li>
Feeding & Nutrition<\/h3><\/a><\/li>
Sensory Stimulation<\/h3><\/a><\/li>
Complementary Therapies<\/h3><\/a><\/li><\/ul><\/div>
Respiratory Health<\/h3><\/a><\/li><\/ul><\/div>
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Seizures<\/h3><\/a><\/li><\/ul><\/div>
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Feeding & Nutrition<\/h3><\/a><\/li><\/ul><\/div>
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Sensory Stimulation<\/h3><\/a><\/li><\/ul><\/div>
\n<\/u><\/div>Complementary Therapies<\/h3><\/a><\/li><\/ul><\/div>
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