Caring for Children with a Rare Condition<\/p>\n<\/div><\/div><\/div><\/div><\/div>
Skip to any section using the links below:<\/p>\n<\/div>
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> 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.<\/p>\n You may see Sandhoff disease referred to as \u201cGM2 gangliosidosis\u201d or \u201cGM2\u201d in scientific literature.<\/p>\n Symptoms of juvenile Sandhoff disease typically appear between 2-5 years of age.<\/p>\n 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 juvenile Sandhoff disease often need support with respiratory health and managing seizures.<\/p>\n<\/div> Sandhoff disease 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> Sandhoff disease 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.<\/p>\n Some of the first signs you may notice are that your child experiences:<\/p>\n As the disease progresses, you may notice that your child experiences:<\/p>\n In the late and end stages of the disease your child:<\/p>\n 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.<\/p>\n<\/div> When your child gets a Sandhoff disease diagnosis, 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<\/b><\/u><\/a>) 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><\/span> Visit the Social Security website to apply for <\/span>Social Security Disability Insurance for Children<\/b><\/u><\/a>.<\/span><\/span><\/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 Sandhoff 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 juvenile Sandhoff 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 juvenile 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:<\/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 Children with juvenile Sandhoff 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.<\/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:<\/u><\/p>\n 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.<\/p>\n Other forms of sensory stimulation include physical therapy, music therapy, and aqua therapy.<\/p>\n<\/div> Complementary therapy can be used alongside traditional medicine to provide comfort and relaxation. Some examples of complementary therapy include physical therapy and massage.<\/p>\n Be sure to consult with your healthcare team before incorporating complementary therapy into your care routine.<\/p>\n For more information on complementary therapy:<\/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>
Complementary Therapies<\/h3><\/a><\/li><\/ul><\/div>
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