We’re waiting on exome sequencing results to come back for our son. They’re scheduled to come back early October. We’ve been waiting 12 weeks just for this test. We were waiting a little over a year for them to agree to run the exome sequencing because every other diagnosis had to be ruled out first. Depending on the test results, each specialist will make their recommendations. They’ve given no hint as to what they will recommend. They can’t, because we have no idea whether or not we’ll get a diagnosis much less what the diagnosis would even be.
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.
I was recently asked by a reader what our son is struggling with. I had avoided discussing it because I didn’t want to burden anyone with the details. I wasn’t sure if the specifics would be unnecessary, and I didn’t want to make anyone uncomfortable. I realize now that it would help people understand where I’m coming from if I shared more about his situation.