Developing a Treatment Plan for Sanfilippo Syndrome

Sanfilippo syndrome is a neurodegenerative disorder that affects about one in 70,000 births. Because it’s rare, many physicians are unfamiliar with it and its treatment. This could pose a problem, especially in an emergency.

If your child has Sanfilippo syndrome, working with his or her primary care physician to develop and maintain a treatment plan can help ensure the best possible care.

Causes of Sanfilippo syndrome

Sanfilippo syndrome is caused by mutations in genes that provide instructions necessary for cells to make essential metabolic enzymes. These mutations cause the enzymes not to function correctly. This causes sugar molecules called glycosaminoglycans to build up inside cells and tissues interfering with their function. With time, this can cause mental deterioration and mobility loss.

How doctors treat Sanfilippo syndrome

There are currently no approved treatments that target the underlying cause of Sanfilippo syndrome. Treatment approaches focus on alleviating symptoms and improving patients’ quality of life. These involve collaboration among a multidisciplinary team of specialists.

Depending on disease stage, the healthcare team could include a number of specialists, such as a neurologist, developmental pediatrician, metabolic or genetics specialist, orthopedics, gastroenterologist, ophthalmologist, cardiologist, endocrinologist, physiotherapist, occupational therapist, behavioral therapists, speech therapist, and an ear, nose, and throat specialist.

What is a treatment plan?

A treatment plan comprises a description of the disease and a list of common symptoms, underscoring those that your child has been experiencing. Such a plan also has information about medications and supplements that your child is taking, including dosages and possible side effects. If he or she is on a special diet, the treatment plan should include that information, too.

The treatment plan also should contain the contact information of your child’s primary care physician. Other emergency contacts, such as a relative, should  be included.

With symptoms that can include behavioral problems, sleep difficulties, vision problems, hearing loss, chronic diarrhea, stiff joints, respiratory infections, and sometimes an enlarged liver and spleen, your child could need emergency medical care at any time. You may not always be able to explain your child’s condition during an emergency, underscoring the importance of having a treatment plan readily available.

Sharing your child’s treatment plan

If you provide emergency room personnel with the plan, they can contact your child’s physician for any questions about treatment. Another copy should go to a friend or another family member besides yourself who can make medical decisions on your child’s behalf.

If your son or daughter is in school, the school nurse or clinic should also get a copy of the treatment plan. School officials need to be prepared to treat your child if they need emergency medical care while at school.

Updating the treatment plan

After each doctor’s visit, review the treatment plan and update all necessary sections. Did the doctors prescribe new medications? Did they make new recommendations? Have they changed the dosages of current medications? Include all this information in the treatment plan.

After each update, make sure everyone with a copy of your child’s treatment plan has the most current information.

Last updated: Jan. 12, 2021

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Sanfilippo Syndrome News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.