As I sat down, preparing myself to write this entry, this song by Tenth Avenue North popped into my head:
“I’m tired. I’m worn. My heart is heavy. From the work it takes to keep on breathing.”
I had three hours today of stress and panic and confusion. I had three hours of breaking. Of craving control where there was none to be had.
Somebody screwed up. Somebody posted MRI results on Kiran’s discharge papers on mychart sometime this morning, before the doctor had called us – before the doctor had even seen the results herself. Arif saw them first and texted me.
And then I read terrifying words. Some that still terrify me. Some that no longer do. But when you read medical words that you understand but not fully … and you certainly don’t understand the true-to-life meaning of those words …. Let’s just say this: Someone screwed up big time, putting those results out there for us to read on our own, without doctoral guidance.
Kiran’s genetic ophthalmologist got back to us pretty quickly once she received my panicked email. She apologized all over the place and is going to be sure to find out how that happened.
The good news: Kiran’s pituitary gland is present and normal. This was the big thing we were looking for. Optic nerve hypoplasia (small or underdeveloped optic nerve), can often coincide with pituitary gland malformations or issues. Since we now know his is fully there and normal, we may even get to say goodbye to his endocrinologist, taking away one of many specialists we see regularly for him.
The other news: We still have more questions than we have answers. His brain is not normal. A lot of “atrophy” and “hypoplasia” was intermingled in the medical terminology. Again, this means parts of his brain are underdeveloped or small. We didn’t get a lot out of his genetic ophthalmologist, other than (and also confirmed when she talked to his geneticist), this information is in line with his known global developmental delays.
That’s really all I can say at this point, with any accuracy. Dr. Google and I had some good sessions this afternoon, but I had to stop when I got in too deep. I know more and can induce more, but until we get good information from our team, I am choosing not to share more.
Next step will be our appointment with Kiran’s geneticist. We have one already on the books for June 12th and that may be the soonest we can see her. She will take a look at everything we know, along with the genetic deletion we know he has, and see if we can finally piece together what is going on. If she feels the genetic piece can explain it all, we may finally have a syndrome diagnosis.
If not, Kiran will probably be referred onto a genetic pediatric neurologist.
It is hard living inside this space of knowing-but-not-really. It was incredibly hard learning new information the way we did this afternoon. I am so glad Dr D is going to get to the bottom of it and make sure no other parent will have to go through what Arif and I went through this afternoon.
I’m tired. I’m worn. My heart is heavy.