finding a voice

Oh my... its been two months since I've done any writing here.  It wasn't intentional (you can't call laziness intentional), but it was two months filled with all sorts of good things including vacations and weddings and family and friends.  Pete and I spent a week in Austin, TX alone together while my parents watched all three kids and I started to think the biggest luxury was napping every afternoon and seeing a movie every evening.

However, this luxury is also one of the ways I've discovered how much I've aged.  We were in Austin 3 years ago for Austin City Limits and we were constantly going and doing.  2011 in Austin, we slept in separate beds (its a luxury) and went out but came back by 11 o'clock.   And then there were the photos from both weddings.  In my head, I'm still about 25 years old, but the wedding photos came back with verifiable proof that I am no longer this age or even who I thought I was.  I actually thought of the skin horse from "The Velveteen Rabbit" about what being loved does to you.  When you become real, I would say to the skin horse, you can't become ugly unless there is a camera around and then you see where the hair has been loved off.  

Also coming back from vacation, I realized that day-to-day life can be crazy hectic.   It was also a reintroduction to this new round of testing and evaluations.  Early October, Henry had an MRI and spinal tap  at Children's Hospital.  Henry had anesthesia for the procedure and on the way to the hospital, he snuck 3 cheerios from his car seat.  For this reason, he had a breathing tube put in so he wouldn't aspirate.  The procedure itself took a few hours, and when they brought him back to the room, with the anesthesia wearing off, he cried and screamed for a good 45 minutes.  The following week, he wasn't able to eat very well and his throat was too sore to talk.

The worst part of it all was the fact they were doing this testing to determine if Henry had a degenerative form of ataxia.  Luckily, Heny does not have this type.  All the results came back earlier this week confirming that Henry's work-up was completely normal except for one test.

Last week, we went back to Children's to have a series of blood tests done to test Henry's methylmalonic acid levels.  His initial testing confirmed that his level was 10 times the lab normal.  His neurologist also ordered a white blood cell serum test and a 3-methylgluconic acid test.

Henry is being tested for rare metabolic disorders.

Out of curiosity, I contacted all of the clinicians Henry had seen in Minnesota from the time he was an infant until we left late last year.  I asked about whether anyone had performed a test to measure methylmalonic acid.  No one ever ordered the test, however, although some metabolic tests are done at birth, measuring methylmalonic acid is not because it builds up in the body over time.

Since I have very little information about what is taking place and we need to wait until after Thanksgiving to call back about possible lab results, here is some information regarding acid disorders.  Although we have not been told exactly what is going on, I found that if I go to the department involved and request information about the exact tests, I can get what I need.

• poor appetite
• poor growth
• extreme sleepiness or lack of energy
• low muscle tone (floppy muscles and joints)
• seizures
• small head 
• delays in learning or mental retardation
• vision problems
• heart problems
• kidney problems
• skin rashes

• high levels of homocysteine and methylmalonic acid in the blood and urine
• high levels of acidic substances in the blood, called metabolic acidosis
• protein or blood in the urine
• anemia
• low platelets
• low white blood cells
• excess clotting of the blood

• breathing problems
• seizures
• swelling of the brain
• stroke
• coma, sometimes leading to death