Making Every Doctor Visit Count When Your Child Has Sanfilippo Syndrome

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by Mary Chapman |

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When your child is diagnosed with a rare genetic disorder such as Sanfilippo syndrome, it can be difficult to effectively express concerns to physicians. You may be overwhelmed by the sheer breadth of symptoms and feel that you need more information, but you aren’t sure how to ask.

Here are some ways to make the most of your doctor’s visit.

Your Sanfilippo syndrome team

Sanfilippo syndrome is a complex metabolic disorder that affects about 1 in every 70,000 individuals. To give your child the best possible care, it’s important that a multidisciplinary team of specialists manage his or her health. At different stages, this team could include a neurologist, a developmental pediatrician, a metabolic specialist, an orthopedic doctor, a gastroenterologist, an ophthalmologist, a cardiologist, an endocrinologist, a physiotherapist, and an ear, nose, and throat specialist.

If you’re in need of a Sanfilippo syndrome specialist, you can seek guidance at your local clinic. Alternatively, you can check out these resources for help:

Be honest and upfront

After you’ve found a primary care doctor with Sanfilippo syndrome expertise, be candid about your child’s condition. Don’t be hesitant to share details. Since your child has a rare disease, you will likely require longer and more frequent doctor visits. Still, make sure your interaction is concise and to the point.

To a large degree, effective treatment hinges on how well you communicate with the doctor.

Do the prep work

Make sure to prepare for the visit in advance. So that key points are not missed during the discussion, you may want to list them beforehand and bring the document with you. Ask yourself about the goals you have for the appointment. If you need to better understand test results, for example, don’t shy away from asking.

Keep good medical records

Maintain and take along your child’s medical record. This should offer an at-a-glance summary of treatments, current medications, and any test results. Such records are particularly handy if the family is traveling, in case your son or daughter needs medical care while away.

Consider recording the visit

If you want to ensure that you don’t miss or forget any important information, ask the physician if it’s permissible to record the visit using your cell phone, or other recorder. That way you can also maintain eye contact with the doctor instead of trying to write everything down.

Get a clinical summary

You may want to ask for a printed clinical summary of the doctor’s visit. Such summaries are often part of the office’s electronic medical record software system.

Specialist coordination

Because treating Sanfilippo requires so many specialists, make sure that team members are all interacting with each other and on the same page. After all, you and your child may have to attend multiple clinics for different aspects of treatment.


Last updated: April 21, 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.