Genetic Counseling with Sanfilippo Syndrome and Why It’s Important

Emily Malcolm, PhD avatar

by Emily Malcolm, PhD |

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Genetic counseling helps you understand how a genetic disease can affect you and your family, and your risk of transmitting the disease to your children.

If you have a child with Sanfilippo syndrome, you might benefit from genetic counseling. The counselor can discuss whether you or other family members should get a genetic test. If you or your child have already had a genetic test, the counselor can go over its results with you and explain what they mean.

If you are planning on having more children, the counselor can discuss the risks of transmitting the disease to them. They can also discuss alternative reproductive techniques that may be available to you to minimize this risk. These include, as an example, in vitro fertilization with a pre-implantation genetic diagnosis.

How do children inherit Sanfilippo syndrome?

Sanfilippo syndrome is inherited in an autosomal recessive pattern. This means a person must inherit two copies of a disease-causing mutation, one from each parent, to develop the disease. If you have a child with Sanfilippo syndrome, it is likely that both you and your partner are carriers of the disease. Carriers usually do not have any symptoms.

If both parents are carriers, their children have a 1-in-4 chance of inheriting two copies of the disease-causing mutation and developing the disease. They have a 1-in-2 chance of inheriting only one copy of the mutated gene, and being disease carriers like their parents. They also have a 1-in-4 chance of inheriting no copies of the disease-causing mutation, and neither having Sanfilippo nor being carriers.

If you have several children, and only one has Sanfilippo syndrome, you may want to get your other children tested. This will help determine whether they are carriers. If so, it means that the disease may affect their own children one day.

What happens if my child tests positive?

If your child tests positive for Sanfilippo syndrome, your doctor will discuss additional tests that may be needed. They will also talk you through the different treatment options.

Many parents who are carriers of a genetic disease have feelings of guilt following diagnosis. This is among the reasons genetic counseling is important.

What happens if my child tests negative?

Meeting with a genetic counselor can still be important if your child’s test result is negative. Your child might have symptoms but no known genetic defect that is associated with Sanfilippo syndrome. This often means they need to undergo further tests to be able to reach a diagnosis. Such uncertainty can lead to feelings of anxiety, anger, or guilt on your part, which a genetic counselor can help you to overcome.


Last updated: June 2, 2020


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.