I'm feeling pretty emotional but want to update everyone on today's visits. Today Noah received four new diagnoses and we were told that there's at least one more to come. That's got to be some kind of record.
We started off the day trying to hurry out the door in time to make it to his beloved art classes at Michael's before heading to the doctors in Greenville, but realized that his g-tube that drains his stomach was clogged. None of our favorite tricks did any good and I ended up needing to change the tube. Noah has a lot of major traumas associated with this procedure and it is frankly terrifying for him. The procedure isn't really that big of a deal on its own but it just carries so much emotional baggage for Noah that he falls apart completely when it's done. Making my child scream until he breaks blood vessels in his face is NOT my favorite way to start the day.
We made it to art class late but in time to get his projects done before heading straight to Greenville. Our first stop was with the pulmonologist. Instead of the visit being routine, Noah was officially diagnosed with chronic lung disease. While we've had hints that his mitochondrial disease might be starting to affect his lungs, this was the first time that it's been significant enough to warrant the official diagnosis. He will need inhaled cortosteroids twice daily from now on. Persuading my terrified-of-anything-in-my-face boy to hold a mask over his mouth and nose was about as fun as it sounds. Breaking the news that he'd need to do it twice every day broke my heart as much as his. We also have a regular Ventolin inhaler to use as needed. A nebulizer machine and a pulse ox machine have been ordered and will be delivered. The doctor wants the nebulizer in house because if/when he needs it, the need could be very acute and it wouldn't be good to need to wait for one to be delivered.
Next up was the opthamologist. I have to say that I could not have been more impressed with this doctor. She was incredibly playful and kind and made most of the visit feel like game time to Noah. The exception was the eye drops which required pinning down a screaming Noah for the THIRD time in one day - remember, he can't cope with anything coming at his face.
It turns out that when we saw his eyes turn in two different directions Friday, we were just seeing a more obvious example of what's been going on very subtly for apparently quite a while. Noah has:
1. Strabismus: his eyes frequently go in different directions. My jaw and the nurse's jaw hit the floor when the doctor covered one eye at a time and his eyes started darting back and forth non stop. We probably saw it more dramatically Friday because he had just woken up. It's happening all the time at a level that is hard to observe but will continue to happen more dramatically when he's tired, sick, etc. This is because of his mitochondrial disease weakening the muscles of his eyes, and it's very possible it will continue to get worse. He's a candidate for surgery, but she feels that it would be risky given his overall health at this point. We'll revisit the idea of surgery again down the road.
2. Stereoblindness: the strabismus can cause other problems like lazy eye (which is easily treated and which Noah does NOT have). Instead he has a more unusual complication called stereoblindness. Because his eyes keep falling out of alignment with each other, his brain gets two signals (like double vision). The pathways in his brain have been permanently damaged and Noah no longer has the ability to see in three dimensions. His world is completely flat and always will be. This explains some odd clumsiness and the fact that he acted like we had three heads recently when we tried to show him some 3D pictures with 3D glasses. It literally doesn't work for him. I'm honestly amazed that he functions as well as he does given the fact that he has no actual depth perception.
3. Astigmatism: not an odd or really scary diagnosis, but Noah's vision is officially bad enough that he needs glasses. I would LOVE any advice on picking out glasses for children as we'll be going on Friday to choose frames. He wears sunglasses a lot because his pupils are always dilated (part of his autonomic dysfunction), so I'm not worried about his willingness to wear them. I just don't know if there are any certain things to consider since he's a young child. She ordered Transition lenses as medically necessary because of his pupils always being dilated, and we're praying that there's no issue with insurance accepting this.
So there we have it. One new pulmonary diagnosis and three new vision diagnoses. Remember in my last blog post when I said that our GI said the was concerned about an eye issue, a neurological issue, or possibly BOTH? To top it all off, our neurologist called and talked to me for a while. He wants Noah to get an EEG and wants to try to arrange it during one of Noah's long hard sleep episodes. He said that the EEG will tell us if this is "normal" sleep or not . . . he said that if this is NOT normal sleep we have one kind of problem, and if it IS normal sleep we have a different kind of problem. Even if Noah is just plain sleeping, the fact that his is sleeping so very, very much indicates trouble. I didn't ask for more details because quite honestly I didn't want any more information just right now. There will be plenty of time to hear about whatever this new neurological problem is and what it means. For today, four new problems was enough to deal with.
I'm walking that curious balance of peace in knowing that the Lord has this all in hand versus sorrow and even anger that this disease could take anything else from him. While his stereoblindness isn't causing him any huge problems right now, it's just the principle - the fact that mito has robbed him of one more thing that will never come back. The pulmonary stuff adds a new level to his care, new equipment, and new very real concerns from his pulmonologist about how he'll handle illnesses in the future. It's just a lot for one day.
As always, we covet your prayers and deeply appreciate all of your comments and messages.
Blessings,
Kate
