With Sanfilippo, we’re like a plane stuck on the tarmac
It's incredibly difficult to have no control over the disease and its progression
Have you ever sat on a plane stuck on an airport runway for an extended period of time? In that scenario, there’s a delay of some sort, and you just have to sit there and wait it out. There’s nothing you can do about it.
Maybe it affects your emotions, causing you to grow angry, anxious, nervous, or even sad if being late is going to ruin your plans. Then just a slight movement of the plane can prompt excitement or joy, only to cause disappointment when you don’t get far.
All of these emotions are similar to those I feel having a terminally ill child — on a much bigger and more serious scale, of course.
My daughter Abby has Sanfilippo syndrome, a rare, terminal disease. She was diagnosed in 2017, and the past seven years have been filled with ups and downs. She seems relatively stable right now, though the disease continues to progress. Though she’d lost her speech and motor skills, there haven’t been any significant changes in several years, for which I’m thankful. But it also scares me. When will she experience another significant decline, I wonder?
She hasn’t had a seizure in over a year, and she’s avoided falling for several months. She seems content and mostly free of pain, judging by her affect and sporadic laughs. Believe me: I’m truly thankful for all of these things. But it can’t always be like this. This disease is taking over her body every day, and there’s nothing anyone can do about it.
Living in a holding pattern
I feel like my life is on that plane on the runway. I have no control over this Sanfilippo journey. I can’t get off the plane because my two daughters and husband are with me. I also can’t make the situation better while we wait. All I can do is treat Abby’s symptoms as they appear and have caregivers help me as needed.
I also have cancer, which keeps me seated in that stagnant space, too. My cancer is stable, so I can avoid treatment for now. But I wonder, when will it grow or spread, filling my life with chemotherapy again?
Because of all of this, I’m very guarded. I won’t commit to things like jobs or trips. I feel like a hostage with no control.
Nevertheless, it’s important to “remember and reiterate,” as I like to say. For example, I just listed three great reasons to be thankful, despite Abby’s condition. I’m also constantly reminded that we could be worse off than we are. My husband and I are grateful that Abby is still here, considering that most children with Sanfilippo pass away before their mid-teens. (Abby is 29.)
I don’t react well to being blindsided, so while I’m thankful for some things, I also must remain on high alert for whatever will come. I know things will get harder, but I don’t know when. I have no control over that, and I have to find a way to live with that fact. The unknowns really complicate things, don’t they?
In the meantime, we sit on the plane and bide our time. I just wish my family and I could get off this runway.
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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