Glutaric Acidemia - MOST BORING BLOG EVER

I hope that you will forgive the "monthly phone call from Grandma" format I've chosen to go with. I don't believe that anyone particularly enjoys an onslaught of medical diagnosis descriptions, however, since so many of you have invested your time and prayer into the life of our daughter, we thought this would be the best way to give a comprehensive update. If you're already up to date, or simply not interested, please feel free to grab our blessing and insistence to pass on this and run!

It was a great comfort to us as we were preparing to leave that we came face to face with nothing but encouragement and blessings from all of those who support us. From our church, our friends, our cheerleaders. We had expected, to be honest, more than a few comments tossed out such as "looks like God's trying to tell you guys something". It was hard enough to go through everything, we were thankful that we didn't meet any of that. We believe that the Lord does move like that, we know a plethora of faithful people who planned to head to the mission field or were there, and were called back to their home country because of a health issue in the family. However, for us in particular, we consistently felt affirmation and confirmation to move ahead with this call upon our lives to do mission work here in Brazil.

Since arriving, we've met nothing but deeper confirmation that we were thinking of what was best for our daughter and being faithful as well. The medical system in the States is good, we were very thankful for the care we received. However, for Naomi's condition in particular, we met the one doctor in Miami who made an amazing presumptive diagnosis, and no one else had ever heard of it. To be fair, they've estimated less than 100 people have this disorder in the whole of the United States, it's skewed towards native tribal populations, and the majority of the cases are of a severe nature that leaves the child dead before the age of 3. To be defensive, Shannon and I are not related, we've checked on ancestry.com :).

Since arriving here in Brazil, we've made contact with four different doctors who had intimate knowledge of this particular genetic disorder. While it is still a "presumptive" diagnosis, we picked up an order yesterday for a lab to be drawn that will give conclusive results. It's a complete genetic analysis that our Brazilian insurance will cover, that is not done in the states for less than the lifeblood of the person you want to cure (it's expensive).

To top that, we met with a nutriologist (don't think we have those back home) it's a nutritionist who is also a licensed and practicing doctor. She had intimate knowledge of Glutaric Acidemia and put together a diet plan for us. This is where this blog gets juicy, at least as juicy as a blog written about glutaric acidemia can get.

Naomi has had much fewer and less severe episodes since we've arrived. Four major ones, with a bit of paralysis, but no seizures. The first two because we were still learning to read food labels, assumed pasta was safe, and fed her bowls full of noodles made from eggs, not with, from! We took her to the hospital once to get the ball rolling with the doctors here, but the rest we road out at home, with seizure medication as a back up, and just waited for it to pass. She's continued to develop fine, has started school, and everything had been pretty great. Though she had started to wet her bed again, for a few months straight, and would weaken considerably after a half hour of running or playing she would lose her ability to walk properly and we'd have to carry her home.

Since visiting with this Nutriologist, we learned that it is not just animal proteins or meat, cheese, and egg that we must avoid, but protein in general. Specifically, limit her to fifteen grams per day. Even more important, the particular amino acids Tryptophan and Lysine (which form glutaric acid, the thing her body can't process normally) are what we needed to focus on. The diet plan we were given was built around the limitation of Lysine to 2000mg per day.

The rough news is, the things that we were using as staples, potatoes, rice, beans, and bananas all of the sudden hit the prohibited list. They're extremely low in protein, but the protein they do have is composed of Lysine and Tryptophan. Even in cutting out major proteins, the things we were leaning on were still creating a toxic environment in her body. So for the past month we've been diving into new foods, new recipes, new torture devices to force vegetables down her fried chicken loving little throat. j/k. She's taken to it wonderfully, even though she's expressed sadness over losing yet more foods. For the past month, she's had energy out the wazoo again, can run for hours without any strange side effects, she's quit wetting her bed, and her only "issue" was a little five minute loss of speech and movement on this past Saturday because her teacher forgot about our requests and gave her some chocolate cake for a class party.

All in all we really feel as though we've gotten a handle on all of this. Most of the research we've done says that a case as mild as hers is easily manageable. It's not something that she'll ever grow out of, but as she grows and her weight increases, in most cases the metabolic crises cease as well.

We just ask that you'd continue to join us in prayer, we still would love to see an act of complete healing and our little girl stuffing pizza down her face again someday. Even more important for our mental sanity, that this genetic analysis confirms the diagnosis, and if not, that I restrain myself from going Sampson on our block of four apartments here, calling all of our Brazilian neighbors Philistines, and trying to bring the roof down with my forehead.