525600 minutes

The picture is from Andrew's Second Birthday.

"525,600 minutes, 525,000 moments so dear.525,600 minutes - how do you measure, measure a year?In daylights, in sunsets, in midnights, in cups of coffee.In inches, in miles, in laughter, in strife.In 525,600 minutes - how do you measure a year in the life?How about love?" -- Seasons of Love from the musical Rent.

Last year at this time there was a potential that both of our son's were incredibly ill. We were awaiting the results from both biopsies the boys had under gone. Hayden had just gotten his tonsils and adenoids out and were checking for why his lymph nodes seemed so enlarged. Luckily, his test results came back normal. Andrew was awaiting the results of the definitive test to tell whether or not he had San Filippo's Syndrome (or MPS 3) -- which would have been a deteriorating, terminal diagnosis. He had already had one test come back positive. While others in the family were convinced he was fine, I was not so optimistic. The stress and the fear were almost overwhelming. I quit my job before the end of the year and had no intention of going back to work. We wanted to keep me home to be with kids, and although Andrew did get sick RSV again this year, we were able to keep him out of the hospital (barely).

At the appointment where they told us Andrew didn't have MPS, they were still stumped by his symptoms. At one point they asked if he had "freckles" on his penis. I thought that was a weird question, but every weirder, I guess is the fact that he did. The doctor left the room and came back with three other doctors and a camera. They wanted to take a picture of my son's private parts. They suggested that those freckles were an indication for Banyan Riley Rubaclava Syndrome, and they did a preliminary test for it.

I went home and read the symptoms list, I thought it seemed to match pretty well. I printed out the information and took it to my next Dr's. appointment (which wasn't my normal Dr.) He said he deferred all those matters to the Dr's at Primary's. Well, the test came back negative so I sort of wrote it off. But then he started to develop these strange bumps on his tummy. (When you do a search for BRR - a picture comes up of a little boy's parts and his tummy with the little bumps just like Andrews). After my normal Dr saw them she left the room and came back with a medical book earmarked to the page about BRR. She suggested that we finally have a diagnosis. So now we have to back to Primary's for confirmation testing. BRR is so rare they can't even tell you how many people in the world have had it. They just say it's "extremely rare". Basically is it the deletion of a tumor suppressing gene, so the bottom line is that he is way more susceptible to developing tumors and cancers. But we haven't had our formal meeting yet with the Dr's about it, so we'll see how that goes...

It it amazing what can happen in a year...