As a Sanfilippo parent, I’ve learned the value of trusting your gut

Parents might not be medical experts, but they are experts on their children

Valerie Tharp Byers avatar

by Valerie Tharp Byers |

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I have a bad habit of being right.

If you ask my husband, he will jokingly confirm that he avoids getting into disagreements with me because I’m often proved correct (or because he just doesn’t want to waste energy arguing with me — a fair point as well!).

The reason I’m often right? It’s because I trust my gut.

It’s because I trusted my gut that I determined our son, Will, had Sanfilippo syndrome after reading a “Today” show article about the condition. I wanted so badly to be wrong, to just be a paranoid mom. But my gut told me what the medical tests eventually confirmed.

I trusted my gut when I overheard Will’s music therapist talking about her daughter’s regression of skills. I asked to see a picture of her daughter. My gut twinged again. I urged her to tell her doctors to test for Sanfilippo. They did, and my gut was once again proved right when her results returned positive.

Sometimes the concept of trusting our intuition gets thrown by the wayside, a necessary reminder that our implicit biases can color our interpretation of facts. In most cases, I agree, we should put aside our personal opinions and look to the experts, to science and research, for answers. But we should also remember that sometimes we are the experts of our own lives. Sometimes trusting our gut, even in the face of medical discouragement, is imperative.

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My least favorite game as a Sanfilippo mom: Playing medical detective

We can’t overlook the unicorns

Miranda and Eric are dear friends of ours from college. Three years ago, they welcomed their son, Ronin, a vibrant boy with bright eyes and a heart-stopping smile.

Leading up to Ronin’s first birthday, Miranda texted me about some developmental delays Ronin was experiencing and said that he would be starting speech, occupational, and physical therapy. I reassured her that she was doing everything necessary to support Ronin’s development and asked her to keep me updated on his progress. A small part of my gut twinged, but I hoped I was wrong. Surely with therapies, they’d see improvement.

Ronin received top-notch care, but the developmental delays persisted. Other close friends and I offered Miranda support during this time. My rare-condition radar continued to sound, and I recommended that Miranda and Eric consider genetic testing, if only to rule things out.

Surprisingly, when they brought up testing with members of their medical team, a few care providers attempted to dissuade them from pursuing it, even though it was completely covered by their insurance. Miranda and Eric insisted, and the first round of genetic testing was performed, with no significant results.

Still, my inner alarm didn’t quieten. I recommended that they order a second round because the usual first round of genetic tests doesn’t cover the full spectrum of rare conditions. Being aware of our family’s experience with rare genetic syndromes and our advocacy in the rare space, they were open to it. They again received pushback, being told the testing was unlikely to yield answers, and again they insisted.

This time, they found a diagnosis.

The problem with trusting medical experts over your intuition is that most care providers are taught to look for horses, not zebras. This habit is understandable. Statistics don’t bear up for every child with delays to require genetic testing. But when the parents, the people who see and interact with the child every day, keep asking because they see something different, it’s time to accept the fact you might not be dealing with a “horse.” And in Ronin’s case, he’s not even a zebra. He’s a unicorn.

Ronin is one of fewer than 170 people worldwide with Okur-Chung neurodevelopmental syndrome, a condition caused by a gene mutation that was first recognized in 2016. Due to the small size of the currently diagnosed population, there isn’t much known about Okur-Chung, but it’s likely Ronin will continue to experience developmental delays throughout his life. This information is life-changing and informs Ronin’s care, and it could’ve been missed if his parents hadn’t trusted their guts and insisted on testing.

Neither Miranda nor I are medical experts. But we are experts about our sons. Miranda sums it up best: As she told the Gillette News Record, “You have the entire portrait of who they are. If you just have this nagging feeling that something is not right and that you need more information, do not ignore that feeling. Don’t push it down. Pursue the information.”

This case is why rare disease awareness is so important. The more people and medical professionals hear about rare conditions, the more they learn, and the more likely they are to trust their gut and consider a rare diagnosis. There are more unicorns out there. It’s up to us to make sure they aren’t overlooked.

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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