Thursday, February 4, 2010

Voice Mail

I am really bad at checking my voice mail. REALLY bad. I have a habit of leaving them as reminders to call people back after I've missed a call. Then I forget that they are still in my inbox and a few days (or weeks) later, I realize that I forgot and panic that the people whose calls I've missed are upset because I haven't called them back. Then I listen to all of them at once and try to call everyone back. And then usually I have to leave voice mails for the people I call back and then they call me back and I miss their call and they leave me's a vicious cycle and maybe one day I will learn my lesson.

Anyways, today was one of those days that I panicked and realized I had a bunch of voice mails I hadn't listened to. I had a few from my mom, a reminder that I had an appointment to get my hair cut last Thursday, a call from my dad, and a few from Patrick when he was still in Jackson Hole.

And then there was the one from Camden's genetic counselor.

When we had our initial meeting with Cam's geneticist on December 15th, they did a skeletal exam (aka, they took about a million x-rays of every bone in Cam's body) and also took blood to run a DNA test to confirm that Camden has the genetic mutation for achondroplasia. A few days after the appointment, his genetic counselor (who is also named Cam:)) called to tell us that the skeletal exam came back consistent with Dr. Spence's diagnosis of achon. She said she would call us in a month or so when the DNA test results came back for more confirmation.

I called her back when I got the message today and of course, got her voice mail. I left her a message to call me back while simultaneously praying that I wouldn't miss her call so she wouldn't fall back into my voice mail black hole. She called back about 15 minutes later, right after I picked up my phone to make sure my ringer was on. I apologized for being a crappy voice mail checker and she laughed and told me that she was actually glad that I called back today instead of last week.

This is when it gets weird.

She told me that she called last week to tell us that the test they ran to confirm Cam's achon came back NEGATIVE.



Apparently they tested him for the 2 most common gene mutations that are found in people with achon. And they both came back NEGATIVE. WHAT?

So of course I freaked out. Did this mean that we are back at square one? Would we have to go back to more specialists to try to find out what else could be causing all of Cam's growth issues? Would he have to have more tests and meet more scary people in white coats?

Then she told me the good news. She told me that they sent his sample back to the lab to test it for a different mutation--one found in a different type of dwarfism called hypochondroplasia, which is very similar to achon. Apparently when I called a few minutes before, she had JUST gotten the results back from that test. She told me was seeing a patient and when she finished with that appointment, the results were waiting for her on her desk. Dr. Spence hadn't even seen them yet. She said that as she was thumbing through Camden's folder, she happened to check her voice mail and hear my message. WEIRD.

She then went on to tell me that Cam DOES have the mutation for hypochondroplasia.

I can't tell you how excited I am to know 100% for sure what is going on with my little guy...

...and I promise I am going to be a much better voice mail checker from now on:)