And again, I am filled with the belief that we are being guided. We actually took Little Buddy to the pediatrician on Tuesday morning because of his sinus drainage and because he keeps pulling at his ears. While Little Buddy has not been prone to ear infections, I've become paranoid because most Sanfilippo kids actually have them chronically. Because his sinus drainage has been prolonged right now, I wanted to confirm it was just seasonal allergies (Texas pollen has been crazy) and make sure that his ears and chest were clear. Thankfully, the doctor confirmed that all was well and that this drainage would probably last throughout this crazy up and down weather.
Now, after this appointment, I was supposed to take Little Buddy home and get him on the bus for school...but I didn't want to. He was in a great mood after the baseball game the night before and it was Tuesday, which meant story time at the library! Little Buddy really misses going so I decided we would play hooky and make the day special: story time, a trolley ride, and lunch with Daddy. And it was. But what else happened is that for some reason our house phone line wasn't working and when it's out, the phone rings through to Daddy's cell phone. This meant that instead of coming home to a message with Little Buddy's results, Daddy got them immediately and we got to be together for lunch to process it as a family. Just little things like that mean a lot to me.
Excited to play hooky and go to the library (we're nerdy like that)!
And then the news that it was Type B...wow, it just blew me out of the water. I nearly cried tears of joy because this is the best bad news that we for which we could have hoped. Type B tends to be a little slower moving than Type A (meaning that Little Buddy may have more "good" time left than we thought) and, for the first time in history, participants are being recruited for clinical trials for Type B. Let me repeat that: We got the diagnosis of Little Buddy's terminal illness at the same time they are trying an actual treatment for this illness. There is a possibility that we could get into a clinical trial. That's huge.
I was actually on the phone the next day with the lead doctor at Minnesota, where the trials are to take place. We are at a bit of a disadvantage as Little Buddy does not yet have his gene sequencing done (that's the next step in the process), but the doctor is going to look over Little Buddy's current test results and see if he can either hold a spot for him in the trial or get the drug company to expand the amount of participants they can have (right now it is capped at 9). As this is an extremely rare disease, obviously they are working to get as many participants as possible. We just pray that God continues to guide us and puts us where we need to be. So far, that's been what's happening and that's all we can pray now.
Today, we actually met with our geneticists. They are working to get our insurance pre-approval expedited for the gene sequencing tests so that we could have a chance of being included into the clinical trials. They are also going to help us connect to other Sanfilippo families in the area (though there aren't any Type Bs locally besides us). It was a fairly cut and dry appointment. We actually won't see them again until after the gene sequencing is done, in order to go over the results and to then start Little Sweetie's blood work (although her urine is normal, you can get false negatives, so once we have all of Little Buddy's blood specifics finalized, she will be tested to confirm that she is not afflicted. Please continue to pray that she is ok.).
Since we were already downtown, we decided to take another family adventure. Little Buddy loves water fountains and waterfalls, so we made a quick jaunt over to the Water Wall. He hasn't been there since he was a baby and we thought he'd really enjoy it. We were right!
Water Wall is right by Williams Tower, so we had to get a picture!
Pure. Joy.
Yay for a family date!
We all enjoyed our time playing at the Water Wall (well, Little Sweetie was a little apprehensive, but still very curious). I loved seeing Little Buddy so happy, but it was also hard for me. About 5 years ago this month, we had some of our maternity photos for Little Buddy taken here. So bittersweet to remember the joy and hope we had them, never knowing the direction our lives would take. But Little Buddy is our gift and we will treasure him as long as God gives us the privilege of being with him. And we'll continue to live in hope.
Blessed to be together.
LBM
Little Buddy's Momma
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