I have a love hate relationship with our son being undiagnosed. On one hand it allows me to be confident whatever he’s struggling with is not on the list of common issues with a poor prognosis. On the other, there’s no specific medical term to tell people when they ask why he has a feeding tube, low muscle tone, and random spells of fever for no obvious reason. I have met other mothers who have children with similar problems in online support groups, but most people have never heard of the combination of symptoms we’re dealing with.
In fact, most people in our offline lives have never encountered a feeding tube before. They have no idea what hypotonia means and saying low muscle tone instead doesn’t seem to help. Without a single term to explain, any attempt to communicate what we’re dealing with medically is frequently, though admittedly not always, a lost cause. Unfortunately, it’s impossible to tell if it’s a lost cause until after you’ve completed the long process attempting to explain all of the terminology involved.
Some time in October we expect to get the results back from full exome sequencing. We have eliminated every other test in an attempt to find answers. Depending on the result we’ll either have a name, or we’ll know we won’t have one for a long time (if ever). I don’t know which scenario I would prefer, and not knowing my preference weighs heavily on my mind. How can I hope or pray for a specific outcome if I don’t know what I want that outcome to be?
I don’t know if anyone else is having as much difficulty with this as I am, but if you are please feel free to share. I would love to know I’m not alone, struggling to figure out what I even want the outcome of this test to be. Not knowing what I want isn’t like me at all.