Monday, November 7, 2011

Yay for Good News!

When Lucy was admitted at Children's Hospital in Milwaukee in September of 2009, we were completely blindsided and overwhelmed.  We had no idea what to expect for her, but the prospects were grim.  She was subjected to countless blood draws, catheterizations for urine samples, muscle testing, and an MRI.  We left with tons of questions and few - if any - answers.

While they refused to verify in any specific terms what they were testing Lucy for, someone did mention an anomaly in some bloodwork that Lucy had done.  The culture had come back positive for trisomy 8 mosaicism.  They wanted to do yet another blood draw, because it was possible that it was just an abnormal culture.  After watching Lucy get poked and prodded (mostly unsuccessfully) for three days, we declined.  We had bigger fish to fry at that time, and anything non-life-threatening was cast aside in the concern department.

Immediately after Lucy's SMA diagnosis, it was the farthest thing from our minds.  We had so much to learn in a very short time to be able to care properly for Lucy.  But as time progressed and Lucy stayed stable, we started to wonder.  As she got older, it was hard for us to try to teach her something and, seeing her disinterested or flat out ignoring us, not question whether it was a an issue with will or skill.  Since she's virtually immobile and non-verbal, it's hard to tell what she's capable of - and whether or not it's just toddler attitude that is keeping her from doing what we're asking her to do.

We discussed it with Dr. Schroth, and she pulled up Lucy's diagnostic paperwork and sent us to the Waisman Center in Madison.  We took Lucy in three weeks ago to talk to them about pursuing whether or not trisomy 8 mosaicism was something Lucy had in addition to SMA.  To get a more accurate testing, they had to do a skin biopsy on Lucy's leg, which she was not at all happy about.  She was irritated at the numbing shot, and when he was pinching her leg to see if it had yet numbed, she shot him the nastiest look I have ever seen her give anyone.  The biopsy itself was painful for her, but she was okay by the ride home and has not complained once while we've been caring for the site post-op :)  In fact, she laughs when we pull off the band-aid for the daily cleaning - my girl is crazy!

Waiting for the test results was a bit like waiting those two years ago, albeit on a much smaller scale.  I even forgot we were waiting for results for a day or two here and there - back then I did not, though I tried very hard to.  I wasn't sure how we would proceed with Lucy's care and therapies if she was diagnosed with the trisomy, but we would figure it out, just like we figured out SMA.

Today someone called and said that Lucy's cells had not grown a single trisomy, which means we can be reasonably sure that the initial culture was a false positive.  I didn't realize how concerned I was about it until I felt the relief when I heard her words.  While we would have been fine, and Lucy would have been fine, I'm glad that another area of our lives doesn't have to be adjusted.  Now I know that it's pure stubbornness when she's not cooperating or communicating, and I plan to react accordingly ;)