My Child’s Just Been Diagnosed With Sanfilippo Syndrome – Now What?

If your child has been diagnosed with Sanfilippo syndrome, you may be feeling mixed emotions, from shock to concern to the relief that certainty can bring. The disorder is so rare that this diagnosis may have taken years. In any case, you may be thinking, “Now What?”

Here is some information about the disease and what to expect in the months and years ahead.

About Sanfilippo syndrome

Sanfilippo syndrome is a neurodegenerative disorder that affects about 1 in 70,000 births. Mutations in genes that provide the instructions necessary for cells to make essential metabolic enzymes cause the disease.

There are four Sanfilippo subtypes, each due to a different genetic mutation affecting the function of a specific enzyme. These enzymes play roles 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. When the enzymes don’t function properly due to the mutations, GAGs build up inside cells and tissues and interfere with their function.

With time, this can cause mental deterioration and loss of mobility.

Disease symptoms often appear between ages 2 and 6. A decline in mental status follows developmental delay. Other symptoms may include behavioral problems, sleep difficulties, vision problems, hearing loss, chronic diarrhea, stiff joints, and problems walking. Many patients may have coarse facial features and an enlarged liver and spleen.

Emotions you might experience after your child is diagnosed

Having your child diagnosed with Sanfilippo syndrome can elicit a range of emotions. It’s normal to feel devastated over the loss of the child you may have imagined when you were expecting. You may experience stages of grief, including a period of denial that your child has a severe disability. And when you consider the changes to your family life that the diagnosis can bring, it’s normal to feel panic or anxiety. Anger also is a common symptom of grief, as are fear and depression.

It’s important to have hope during these times and to gather support from organizations such as the National MPS Society and others who are informed about the disorder. You also may consider speaking with a counselor.

What can help your child once he or she is diagnosed

Language and communication

Children with Sanfilippo syndrome have typical language development until around 24 months, or roughly 2 years, when that progress begins to slow down and then eventually regresses. When that happens, speech therapy may help.

Scoliosis

Your son or daughter also may develop scoliosis, a condition in which the spine curves to the side. Treatment depends on the patient’s age and the severity of the condition. Doctors often will recommend treating minor cases in patients — especially those who are past their primary growing phases — with physiotherapy and massage therapy.

If the scoliosis is minor but the patient is still growing, doctors may give the child a rigid brace for the torso to help prevent the condition from worsening. Some children may benefit from spinal stabilization surgery. You should be aware, however, of the possible risks of anesthesia in Sanfilippo, including for hip surgery, which may be necessary to reduce pain.

Eating and drinking

Eating and drinking can be problematic in children with Sanfilippo, though specialists can investigate and treat such issues. In some cases, it may be necessary to switch to tube feeding to ensure your child receives enough nutrition.

Muscle strength

As they age, patients can develop muscle weakness, as well as joint stiffness and pain. Physiotherapy can help improve muscle strength and flexibility. Research also has shown that hydrotherapy, or physiotherapy involving water, can help children with neuromuscular impairments.

Because of Sanfilippo’s progressive nature, it’s likely your child will need aids and adaptations to help with everyday life as he or she ages.

Sleeping

Sleeping problems also are common, but there are ways to manage such sleep disturbances.

Schooling

As for school, your child will probably require an individualized education program (IEP), intended to ensure that students with disabilities get specialized instruction and related services. A team of people from various educational disciplines develops the IEP, with input from you and other family members and healthcare providers.

Behavior

Many children with Sanfilippo syndrome display behavioral problems, including aggression. Read our article that contains tips for dealing with aggression in the disease.

Last updated: Dec. 1, 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.