Planning for the Future When You Have a Child With Sanfilippo Syndrome

Receiving a Sanfilippo syndrome diagnosis for your child may have come as a shock. But now that you know, you need to plan for the future.

What causes Sanfilippo syndrome?

Sanfilippo syndrome refers to a group of disorders caused by mutations in genes that provide instructions for making necessary proteins. These proteins play a role in the pathways for breaking down large sugar molecules called glycosaminoglycans, or GAGs. GAGs are important complex carbohydrates that aid in regulating many biological processes.

However, the gene mutations lead to GAGs building up inside cells and tissues. The GAGs interfere with cellular function, causing progressive mental deterioration and loss of mobility in children.

How will the disease affect our child in the future?

Typically, Sanfilippo syndrome progresses in three stages, beginning with developmental delays, particularly in language. In the second stage, children exhibit behavioral and sleep abnormalities. The third stage is characterized by a loss of mobility, difficulties in feeding, and seizures.

Who will care for our child now and in the future?

To give your child the best possible care, there must be a multidisciplinary team of specialists in place. At various stages, this team could comprise a developmental pediatrician, neurologist, metabolic specialist, orthopedic doctor, gastroenterologist, ophthalmologist, cardiologist, endocrinologist, physiotherapist, and an ear, nose, and throat doctor.

If you are in need of a Sanfilippo syndrome specialist, you can seek guidance at your local clinic. You also may turn to these organizations for help:

• Team Sanfilippo Foundation
• Jonahs Just Begun — Foundation to Cure Sanfilippo
• National MPS Society
• Sanfilippo Children’s Foundation
• Cure Sanfilippo Foundation
• Sanfilippo Foundation Switzerland
• Sanfilippo Children’s Research Foundation
• MPS Society

What about their education?

Your child will probably require an individualized education program (IEP), intended to ensure that a child with a disability gets specialized instruction and related services. A team of people from various educational disciplines develops the IEP working with your child, with input from you and other family members and healthcare providers.

Because the syndrome’s natural course causes children to lose skills, a chief goal should be to help the child maintain the skills they have. An IEP should address parental goals, physical health, information about the disease, and family impact.

Caregiver support

Taking care of a child with a chronic disorder such as Sanfilippo syndrome is one of the most draining and difficult tasks a parent can face. Beyond handling physical challenges and medical needs, you will have to deal with your child’s emotional needs and the impact that a prolonged illness can have on the entire family.

A recent study emphasizes the needs of caregivers of children with Sanfilippo type B. Type A and B are the most prevalent globally. Care for children with Sanfilippo B is provided chiefly by parents. Study findings indicated that the most important factors contributing to increasing caregivers’ burden include sleep disturbances, dealing with the child’s hyperactivity, and communication difficulties.

Counseling is recommended for families who have a child with the condition to help them understand the syndrome, possible symptom-easing treatments, and developing therapies. The Sanfilippo groups listed above also can help with caregiver support.

Last updated: July 13, 2020

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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.