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.
This is the first time in my life I’ve felt like I can’t make any impact on a situation. There’s no way for me to work harder or faster to improve my son’s condition (whatever that may be – if we ever even get a name for it). I’m powerless to change anything about the inevitable outcome. There are so many rare conditions diagnosable only by exome sequencing. We’ve spent a little over a year ruling out all of the easily treatable things. Whatever we find out, it’s unlikely to be good news. No diagnosis? That’s not good news either. It means we react to the symptoms without any ability to predict future problems that might arise.
Days like today I just want someone to come and whisper in my ear, “just do what I tell you and it’ll fix everything.” There’s no one with that information, however, so I’m left to positive thoughts and many prayers. We’re seeing every specialist my son has, and two new ones, over the next month. Hopefully someone has an idea for something I can do to help my tubie eat comfortably and gain weight!
My thoughts and prayers are with every Mom and Dad out there suffering through the same situation.