After a Monday and Tuesday chock full of therapies and doctor's appointments, we headed up to the farm Tuesday night before a jam-packed day at Cincinnati Children's Hospital on Wednesday. We started out Wednesday morning with an anesthesia consultation, which was very thorough and informative and made us feel a lot better about Collin's procedures that will require him to be anesthetized.
We finished that appointment just in time to make it to our neurology appointment, which constituted nearly three hours of exhaustive questions and examination. We didn't come up with anything new from this visit (which we somewhat expected), although the doctor ordered an MRI. At this stage in Collin's brain development, an MRI will tell us much more about what is going on than it did back in June; not to mention the fact that CCH has much stronger MRI machines than we have here, which will hopefully yield even greater detail.
From neurology, we hustled straight to Human Genetics, where we did the standard incredibly extensive genetic counseling interview before seeing the doctor, who walked in, talked somewhat distractedly for a few minutes, then excused herself to look something up because just looking at Collin had triggered something in her mind. What she ended up suggesting is that Collin has a disorder called PEHO, which stands for Paroxysms (Seizures - the P can also stand for Progressive Encephalopathy), Edema (swelling - Collin's fat hands and feet were the tip-off here), Hypsarrhythmia (abnormal brainwave pattern that comes with Infantile Spasms), and Optic Atrophy. It is extremely rare; consequently, very little is known about it, other than that it is degenerative.
Here's where I stop and comment on the tricky business of attaching a name to Collin's challenges/condition/etc. I have felt for a while now that it would be so helpful mentally and emotionally to have a name to hold on to - to be able to say that this thing we're facing really is a thing. Even if it didn't help us know how to treat Collin, at least we would know what we are up against. But when the doctor presented those four letters to us on Wednesday, I felt myself almost physically recoil. I didn't want this word that might change the way people see Collin, the way they treat him, the way we might be told to view his future. Even though nothing was certain and it was only a hunch on the doctor's part, I felt extremely annoyed by this party-crashing identity that was trying to squeeze into our life and spoil what had come to be a level of semi-comfort with its awkward presence. The geneticist kept emphasizing that she could tell by looking at Collin that he has something that 'we should be able to figure out.' She meant this as a comfort, as a way of offering an assurance of answers; but I bristled at these words. 'You will never figure Collin out,' I wanted to tell her. 'He is more than any name you can conjure and more than any gene you can pinpoint.' But then I remembered that the whole reason we came to see her was for the kinds of answers she was promising and I resolved to work through these thoughts and feelings some other time. In order to figure out whether the PEHO hunch is legitimate, the plan was to reexamine Collin's EEGs, look for certain cues in his MRI, and get an ophthalmology exam. The information we get from these will direct us in whether or how to pursue this possibility.
The great thing about all of this time in Cincinnati is that it also means lots of time on the farm. We went home to a home cooked meal and a relaxing evening with my parents. Kyle had to leave for Louisville to work the rest of the week, which was hard, but my parents took off work to help me with Collin during the rest of his appointments.
Thursday was ophthalmology, which was good except for the fact that the doctor left to let Collin's eyes dilate and didn't come back for AN HOUR AND A HALF. I messed with pretty much every piece of expensive equipment in that room while we waited, stuck my head out into the hall repeatedly, and just generally got worked up. But when the doctor examined Collin and informed me that he saw NO signs of optic atrophy and that Collin's optic nerves (which another doctor thought were pale) looked 'darn good', I suddenly forgot my seething anger and found I didn't mind him so much. Even though he kept pushing my head out of the way with his light during the examination.
Friday was the MRI, during which Collin kicked all of our butts with awesomeness by doing a 45-minute MRI of the brain with no sedation. I bet you twelve dollars none of us could have done it. It's a little bit like sticking your head in a big pot and then asking a percussionist, an evil robot, and a construction worker to take turns on it from the outside. And you can't move a muscle or it will mess up the scan. At first, we though they were going to have to either reschedule it or use sedation because Collin was wiggling too much and they thought he was scared of the sounds. I knew better though, and I could see him in the machine smiling and laughing because he LOVE LOVE LOVES loud sounds. He just about pees his pants with happiness when the vacuum cleaner or garbage disposal are running. So, I asked them to let me try my thing and swaddled him up on his side with his pacifier wedged in his mouth and a ton of sheets and towels crammed in the head piece around his ears to make the noises less exciting. And - presto-bango - he thought it was naptime and promptly ignored everything else that was going on so he could concentrate on being awesome and going to sleep. That's my boy.
This weekend, Collin has thoroughly enjoyed being back home in Louisville. He's pretty sensitive to his surroundings for not being able to see hardly at all, and we could almost see him relaxing when we got him back in the house. He talked and wiggled and squealed for the next two days straight.
Tomorrow night, Collin and I will be going back to Cincinnati for his Aerodigestive evaluation. This will involve a CT scan of the chest (which will require anesthesia and a breathing tube), three different scopes, an overnight stay with an impedance probe placed in his stomach, a swallow study, and a pulmonary and surgery consult. Kyle will join us on Wednesday for the scopes and the overnight stay. It will be a long week, but we're hoping to have some answers by its end.
As always, we'll update when possible. Thanks again and again for your prayers, meals, encouragement, and your decision to be a part of this with us.