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livelylilac703 t1_j8cd071 wrote

How is it a relief for a child to be diagnosed with a fatal disease that, on average, won’t allow them to live past adolescence? And even then, the quality of life is an absolute tragedy. The brain starts deteriorating before it’s even had a chance to develop causing the entire body to slowly shut down over time because the brain stops sending signals for basic functions like digesting food and the ability to move. I work with parents of an individual with Sanfilippo, who was first misdiagnosed as autistic, and also received the stem cell transplant a few years ago and it sadly had no positive effect. This child just had a birthday and according to their doctors it will almost definitely be their last. When you see the horror of the disease firsthand you realize the diagnosis, early or not, translates directly to early death. No child or family deserves that.


Theletterkay t1_j8cggi2 wrote

The relief is that there are tools to help diagnose it early enough for intervention. Otherwise a child developes these symptoms and its just death and suffering.


moredinosaurbutts t1_j8ci5co wrote

Thanks, this is exactly what I was clumsily attempting to communicate. There may be more peace with a late diagnosis, but by then you've been robbed of any chance. Better a small chance than none at all.


livelylilac703 t1_j8g7x1i wrote

I don’t mean to sound aggressive in my responses but even with intervention, there is no cure and it’s fatal. Intervention may slightly increase life expectancy, but even then, imagine an individual who is stuck in the body of a teenager but their brain is so deteriorated they can’t walk, talk, sit up, communicate, eat, or drink. That’s what happens at the end when you’re looking at this disease, intervention or not. I pray they find a cure.


Theletterkay t1_j8gn9cx wrote

But without being able to diagnose it, you may live wondering what you did to cause it, or put the child through many painful or traumatizing treatments, thinking you are helping, but really you are just wasting their time with added suffering. With diagnosing you know what it is, and you know there arent any cures. So you can focus on comfort for them and helping them enjoy any amount of life possible.

And, yes, I absolutely do know the disease well. My sister in law is a home care taker of the only known family to have 2 children with the disease. One is 15yo now, the other is 11yo. And while its true they cant do or communicate much, they smile and enjoy her company. They snuggle with her for movies, which they have favorites they enjoy. They have favorite foods, which they get spoiled with often. If they get excited about something, their parents and caretakers go out of their way to make sure they make those girls happy and fufilled. Diagnosing keeps those girls out in the world rather than cooped up in a hospital hoping to find a cure that doesnt exist. That's definitely worth something.