Am I a Carrier for Sanfilippo Syndrome?

Emily Wallis avatar

by Emily Wallis |

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I received a package in the mail last week. It was a test that I will be able to take and send to a lab to find out if I am a carrier for Sanfilippo syndrome. My sister, Abby, has this rare and terminal disease for which there is no cure.

On the night Abby was diagnosed, I remember staying up and reading about mucopolysaccharidosis, a disorder that occurs when the body is unable to break down carbohydrates in cells, and about Sanfilippo, which is a type of mucopolysaccharidosis.

I searched for information about how this disease would affect my sister, but I quickly realized that I could be affected, too. I could be a carrier for Sanfilippo syndrome and potentially deliver this disease to my children.

The test that will give me that answer is sitting on my kitchen counter.

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I’m nervous about taking the test, and anxious about what it will reveal. I often handle my anxiety by imagining what the absolute worst-case scenario could be. What is the very worst thing that could happen and how would I handle it?

Of course, I can’t completely answer that question until I have children of my own, but simply entertaining the thought is enough to make my stomach uneasy.

The day I received the package, I opened up the file on my computer that I had made the night Abby was diagnosed and reviewed what I had learned about Sanfilippo siblings, and the chances that I might pass one the disease to my children. 

Being the sibling of someone with Sanfilippo is unbearably stressful. We must watch our siblings gradually lose the ability to do even the most basic things, and eventually, they’ll lose their lives. We cannot have a normal sibling relationship. I struggled for a long time with guilt for not recognizing how special my time with Abby was before Sanfilippo began to take her.

I’ve spent a lot of time thinking about why I’m taking so long to take this test to see if I am a carrier. Perhaps I prefer not knowing. Given how much anxiety I have about finding out the results, it’s comforting to see the box sitting there on my kitchen counter, a reminder that I don’t yet know. And really, it’s not an immediate concern. I don’t need to know right now. I’m not planning to start a family quite yet.

But I do plan to take the test soon. It’s odd to see that the test is just a swab. How could such a tiny thing hold so many answers? I’m reminded of when Abby was diagnosed. We had been searching for answers to why she was losing the ability to do things, and we learned through a urine test that she had Sanfilippo syndrome. All I have to do to find out if I am a carrier is a simple swab.

A simple swab, but it’s such a heavy thing to me. It’s a heavy weight carried by all the members of my family, even those who haven’t been born yet.

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Note: Sanfilippo News is strictly a news and information website about the syndrome. 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. The opinions expressed in this column are not those of Sanfilippo News or its parent company, BioNews, and are intended to spark discussion about issues pertaining to Sanfilippo syndrome.

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