There is no describing the feelings a mother has when she receives a call from the pediatrician explaining that her newborn's third round of newborn testing continues to show abnormal results. It is a feeling of numbness, as painful as it is to hear. It is a feeling of loss, from what should have been. It is a feeling of hope, that maybe, just maybe, the test results are a fluke. I received this phone call on Thursday afternoon. Our dear pediatrician, Mitzi Conover, called with the most positive voice she could muster, shared the news with me, and reiterated that we are going to get through this together.
So, Larry, William and I made our first trek to Primary Children's Medical Center on Friday to meet with Dr. Ashley Warnock, our new genetic/metabolic specialist. This was the first of a lifetime of visits to PCMC for William. We had a very productive visit with the doctor and left feeling encouraged and changed. Let me explain what is going on...
William has a metabolic disorder called MMA, or Methylmalonic Acidemia. William's urine test showed a high level of the methylmalonic acid. The normal range for this acid is 0-5. William's level was 315. Larry and I were freaking out a bit about how high this level was until the doctor explained that William is on the low end of the spectrum, where other children may be in the thousands with this acid. William's body is doing one of two things: it is either not processing Vitamin B12 or he has an enzyme that is mutated and not working correctly. Children on the low end of the spectrum may never experience any symptoms, or they may be lethargic, have a poor appetite, vomit, and have poor muscle tone. William won the prize yesterday of being the strongest newborn that Dr. Warnock has ever seen. That was super encouraging for us! Children on the high end of the spectrum could have mental retardation, learning disabilities, organ failure, or comas. We feel so hopeful by the news we received.

The phlebotomist tried to draw blood out of each of William's arms but had no luck.
The IV team came in and inserted an IV in his foot. They did a "drip" draw.
That is why Will has three colorful bandages on his body.
He was not a happy camper!
So, what is the plan for William's future? Yesterday, Will and I both had our blood drawn at PCMC for further testing. Will also gave another urine specimen (much easier this time around). They are testing me for low Vitamin B12. I could be the culprit (and yes, I have been very hard on myself about this fact...Larry, his mom, and my mom have all reassured me that whatever is going on is NOT my fault). William begins his Vitamin B12 shots next week and will have them weekly for the next two weeks. Then we will take our second trip to PCMC to visit with Dr. Warnock again and re-test for William's levels. This will tell us if he is responding to Vitamin B12 injections. If he does respond to the injections, he will continue receiving them throughout his lifetime. We will find out more information the first weeks of January. We also found out that this disorder can cause extreme dehydration if William gets sick. So, we have to keep him away from anyone that is sick. If he begins vomiting or has diarrhea, we have to immediately take him to the hospital to have an IV put in. We call the genetic specialist on our way to the hospital so that he/she can respond to his needs. I think this is the scariest part of the whole thing for me. How do I keep my little angel safe from germs and people who don't care if they spread their germs everywhere?
I feel at peace with what I know about William's condition, but I get so emotional when I think about it for too long. My little boy has a genetic disorder which came from his father and me. We are carriers of the disorder. How did none of our other children acquire this condition? I will be spending a great deal of time learning more about MMA and what I can do to make William's life as normal as possible for him. He has already reached milestones such as smiling and opening his hands to grasp things. I know in my heart that he was sent to our family at this time for a reason. Larry said to me yesterday, "You know, I have been thinking. Dr. Warnock said that they have only been testing for this disorder for four years in Utah. Maybe William had to wait to come to our family for so many years because the testing wasn't available yet for his condition. The Lord wanted him to have all the help available to live a normal life." I agree with Larry. What if our little angel came to us a few years after Sarah? We may have learned too late about his disorder, after seizures had started or learning disabilities were already in place. I will be continually grateful to my heavenly father for sending me this precious baby at this time in my life when I am mature enough to handle this challenge and to guide little William with so many loving helpers. The Lord will give me nothing that I can't handle. I also know that I will need to lean on Him regularly for comfort and help. I am also grateful for a wonderful, loving husband who will be a constant support for me as well.