Tuesday wasn’t a long day and it was a long day. Even short days at the NIH are long it seems as the information they are throwing at you is sometimes new, sometimes verification and sometimes it’s just the same old thing.

Gage and Quinnlin (who now insists Quinnlinn is her “real” name and that we now use it because everyone is repeating it when checking her I.D. and she also now says “Quinn is my FAKE name.”) are by all accounts doing well. We’ve had a couple of behavior mishaps with Gage, so that hasn’t changed so much from our regular life so it is hard sometimes to weed between the noise. Although I am sure some of it is research backlash. He and Quinn both think the staying at the Inn is fun and have had fun hanging out here today. Yesterday (Tuesday) we saw a friend for the afternoon and dinner, which was a nice alternative to our hanging out here, except Gage ended up all muddy and well, we had to drag along jugs of urine for capture. Julian declared himself Urine King, and besides helping Quinn, which I did, he took care of all capturing responsibilities. If you know Julian you know what an extreme stretch this is for him; the carrying around of pee jars and jugs. There’s no way one person could do this trip with two sick kids, urine collection notwithstanding.

Tuesday the kids had ultrasounds and echo cardiograms and we saw a liver doc, who basically said “don’t worry” about the liver at this stage. When it gives them problems it will be in the years off future. This echos our local docs, except this doc was hypersensitive to our Quinnlin’s recent symptoms of tiredness, itching, loss of appetite. So he asked about an MRI to get a closer look at the liver. The worked her in Wednesday and I declare that QuinnLIN is a ROCK STAR. The girl did an MRI with no sedation. She was in the tube for over 45 minutes. They were going for the quickie 15-25 minute look-see, she feel asleep and so we ended up with nearly an hour look-see. Word on the NIH street is that nothing earth-shattering was found, but they are looking more closely and we will hear about it on our wrap-up session on Thursday or Friday.

Labs were yesterday and today. We had an issue with Gage the first lab draw (there are two) because I forgot to get the miracle numbing cream put on so that set us back to wait for it to kick in. When it did the tech entered the skin JUST UNDER the numb spot, so you can imagine how Gage reacted. He was pissed. He did much better today because Mom and Dad were all like “See THAT AREA THAT IS MISCOLORED SKIN? Stick the needle in there, NOT in the area that has no cream!” He did better. Maybe because it hurt a little less, but probably it was more about how we LISTENED to him and acted like his advocates. QuinnLIN did great on Tuesday (no cream) and Wednesday was a little rough. They had given her a “call you up” number (F17) which was before Gage’s F18. When the tech took one look at our F17 she backed up, said to go wait again and then they promptly handed her F19 and took the slip with the coveted F17 from her hand. This was not good. She cried and cried about the number. Couldn’t let go of the elusive F17 number. 10 or 15 minutes of a Q meltdown with us muttering “she wants the other number” and “it’s the number” when I picked stood her on a chair, looked directly into her eyes like I understand and said very softly and intuitively “Quinn, I know you are upset, and it’s been a really long day, and I know it’s not really about the number, what is it about?” In her most serious loud voice she says, “IT IS ABOUT THE NUMBER!” to which I turn to the mortified staff standing around us and say “can anyone just get her the slip of paper that says F17.” Presto! In about 10 seconds someone arrives with the F17 slip of paper and she’s all smiles. So, go figure, it really was about the number. I asked her for the number to put in the scrapbook of our visit and she proudly and happily handed it over to me.

Eye exams were a little exhausting. Gage HATES drops in any eye and they had to put a series of them (in both!) for testing. Quinn’s wasn’t as long, but still long for her. She didn’t have much problem with any part of the testing. Gage’s revealed “a progressive disease of the eye” that can come later in life with less field of vision and night vision. Now, when she said this, she added that it wasn’t anything to worry about and that it shouldn’t hurt any quality of life later. BUT STILL. I personally can’t understand how the words PROGRESSIVE DISEASE and DON’T WORRY go together but WHATEVER. It’s very “slight” and “small” and we’ll hear more about it in our wrap-up session. I mentioned to our doctor (lead researcher) about the finding and she said she would personally talk to the eye doctor to get the scoop. The eye doctor didn’t seem to know anything about OMA that I could tell, but she mentioned that this “progressive” thing is connected to Joubert’s Syndrome.

Our research doctor tracked us down hanging out at the Inn while we were letting the kids run around and play (the kids were the only ones interested in building a volcano out of clay in an organized activity), I did laundry and took the kids for a walk with their new collection of stuffed animals, while Julian did some work. She wanted to discuss Quinn’s labs and some cause for worry. Her potassium is high. She wanted to call our doc in Atlanta and get her started on some meds. Said doc is also on her spring break, so she spoke with her partner and so Quinn is on a new med. Quinn didn’t find the first dose very pleasing, so we are hoping to help her tomorrow with a vodka chaser! Oh, please…beer maybe, but never vodka.

Quinn’s kidney function is said to be in the 20ish% now, which isn’t surprising to us. They recommend we have a plan. Which we do. Our Atlanta neph is all over Quinnlin’s kidney function. Gage was at 20ish% kidney function when he started the decline in acute kidney failure in 90 days. So, Quinn’s kidneys are failing. No surprise there. How long does she have with her native kidneys? Anyone’s guess. Mine is a year. I think we will end 1st grade with a referral to transplant. I hope I’m wrong.

Thursday finds us with photography for the kids, neurology and pulmonary testing for Gage. In there we’ll try to squeeze in an MRI for him. Quinn’s got a light day, but with extra labs since the new med. She’ll be delighted I’m sure. However, I don’t see them changing numbers on her any time soon. I wouldn’t be surprised if they didn’t give her F17, just to be safe.

Like Dr. Wonderful in year’s past, here, they’ve eluded to Gage and Quinn’s crazy mutation being that of an extreme rarity. That we may never know of other kids with their mixture of symptoms. Knowing this doesn’t change how we treat their medical conditions, so there is no revelation here. However, having more and more people as time goes on confirm what you already knew is somewhat comforting and disconcerting at the same time.