Tuesday, June 14, 2011

The Ramirezes at Walt Disney

Friends, enjoy this video thank you to the generous people who sent our family, along with the Mitchells, to Walt Disney World. We had an amazing time.

Wednesday, June 1, 2011

Update On (virtually) Everything

I see that our last post to the blog was April 5! That's criminal of us, but the good news is, Elijah has been doing really GREAT. He's been attending two schools each week, along with six therapy appointments outside of school. Best of all, he spends almost every evening playing with the neighborhood kids. They come to see Sophia, and when they drag her to their houses, Eli asks if he can go play, too. Either I or his nurse brings him to the friend's yard. It's to Sophia's eternal credit that she goes out of her way to include Eli, and so do the other kids. It's all girls, except for a kid named Nathan up the hill. Recently, Elijah saw Nathan playing in a blow-up pool, and Eli asked to put on his swimsuit and get in the water, which we allowed him to do. A swimming pool is a great equalizer; Nathan had no problem at all finding things to do with Eli that were within his range of abilities. Even better, after they finished swimming, Nathan assumed that Eli should come inside and play, you know, like any other kid would do. They watched TV together, played with cars and trucks, and pretty much had an hour-long conversation. Nathan, you're awesome.


First thing's first: It's time once again for the talent show at Sophia's elementary school. This year, our star performer closed the show and all this implies. Also, she made the honor roll for her good grades, she received a citizenship award, and she BROKE the class record for most levels passed in the school's Geography study program. Behold our little wonder:


More videos, now with the boy. Elijah found himself too fascinated by "Star Wars" to look away, even though he clearly didn't care for the big guy in black. But he watched the whole thing with me, and I think he's a fan. Then he took a stab at filmmaking for himself. More importantly, just listen to Eli talk! He's one articulate little 4-year-old! Great observations, great questions, very intuitive conclusions. ("Are they on a spaceship?") We saw Dr. Hall, the ear-nose-throat guy, at his office today, and he noted how much clearer Elijah's speech has become since he was last seen. It's downright obvious that Eli is continuing to grow at an alarming rate.


We really need you guys to pray for a miracle in Elijah's life. First, there's some good news, in that we were accepted by the Make-A-Wish Foundation to do something amazing for our little guy, and we'll figure out what that might be in the coming months. In the meantime, I took some time to investigate all the particulars of Eli's genetic syndrome so I could make the case to Make-A-Wish for our qualification. As you may know, they only help kids who have a terminal illness or are at risk for one. I wouldn't call myself blaise about it, but it's definitely been years since I seriously worried Eli might be at risk for anything serious. For one thing, all the documentation on RECQL4 was contradictory on the suggestion that its sufferers might be at risk for cancer, and there was even some erroneous speculation that these patients had an increased risk of Down's Syndrome-type symptoms, which I've seen no evidence of anywhere.

All that to say, I looked at the most recent data, and I made a list of all the symptoms for the three main RECQL4 syndromes -- Baller-Gerald, Rothmon-Thomson, and RAPADILINO. For the record, the concensus these days is that there aren't three syndromes, but one syndrome with three variations, so that any single patient can have symptoms from any of the three classifications. Well, drumroll please. Elijah has EVERY SYMPTOM from all THREE syndromes, except for one -- osteosarcoma, or bone cancer.

It's obvious, then, why we set up an initial consultation with a pediatric oncologist. And this is what I learned: Among all recorded cases of RECQL4 mutation, 30 percent develop osteosarcoma before the age of 11. Among all victims of osteosarcoma at any age, the survival rate is 80 percent. That's the reality, and it really stinks. But here's the rest. We don't see any signs of tumors anywhere on Eli, and we're going to investigate further to rule out any possibility whatsoever. Also, the key to stopping and curing this cancer is early detection, and that's great news for us.

We just need one more thing, and that's your prayers. Pray that osteosarcoma never, ever, EVER be a concern for our little warrior, Elijah. We claim the victory in advance.

More posts to come.