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Thursday, January 22, 2009

Crazy Day

Had a very weird day the other day, full of all sorts of emotions. Wednesdays are a hectic day for us. Brian has classes with a local homeschool group from 10:30am-3:00pm, so it's early drop off. then lunch and then our friends come to my home for the Magic Tree House bookclub. Then, they leave, I run the vacuum, make dinner (or get dinner to go) and off to Awanas we go!

Added to this normal Wednesday I had a Dr's appointment at 9:20 in the am. That means up super early, get out of the house by 8:50...ewwwwwwwwwwwwwwwww.

This isn't even the emotional part! So, this doctor happens to be an endocrinologist. I had Graves Disease, which went into remission during my pregnancy with Sebastian. I hadn't really followed up on it as it's very hard to get into a specialist in this town. But I finally got in. Yesterday's appointment was a follow up with his Physicians Assistant, whom I had never met.

Prior to this appointment I had to get gads of bloodwork done. I flipped through the printout and happened to see he had ordered me a test for Methylmalonic Acid. That was weird for me to see as my boys tested high for Methylmalonic Acid and it is suspected that they both have Methylmalonic Acidemia. We've been living with this suspected diagnosis for more than a year now. So, I knew I was going to ask the PA how that Acid level correlates to the thyroid and would it have anything to do with the boys being sick.

When she reviewed my test results, my thyroid is fine, but my methylmalonic acid level was skyrocketing. Well, that's the first time to my knowledge I've been tested for it. My B12 and B6 were very low. So, I launch into my story of the boys health history.

Because all their tests were high for methylmalonic acid, we've suspected they have methylmalonic acidemia. As a matter of fact, we were sent to a geneticist in Los Angeles, UCLA, last year. This was highly inconclusive. We have no real answers as to why they boys were sick.

The PA brought in the Endocrinologist and they both agreed that I better see a geneticist myself. The PA, a wonderful woman named Susan, happens to be going for her doctorate at U of Utah, and had recently attended a lecture by a geneticist who shared a case that sounded very similar to ours. She got me that dr's contact info.'s that for a surprise. I've obviously got something wrong that the B12 and B6 are not being used properly, so we'll look at it from a genetics point of view.

I called the U of U Genetics Dept and wonderfully, this doctor actually holds a clinic here in Las Vegas. He will be here in about 2 weeks. He'll review our records then.

Crazy. Thought it'd be a normal, "ok, your thyroid is fine, come back in 6 months" appointment.

So...we'll see. I'll update as we go!

1 comment:

  1. That great to hear.. you know all good things come from Utah.