Wednesday, October 7, 2009

Testing 1...2

Several of you have asked what is going on with Ava, so I'm going to explain it here one time. It is a little complicated, and I am definitely not the expert on these things. (I only know what I have been told and have read.)

Ava is considered FTT (failure to thrive), has sever food allergies, and RAD (reactive airway disease--basically asthma, but they don't technically diagnose asthma until the child reaches a certain age).

About 6 weeks ago, she went back to the allergist for some skin tests. The allergist found a few more allergies and was concerned that her weight was only 13lbs. 6oz. She contacted her pediatrician and they recommended that Ava be seen by a GI doctor (gastroenterologist).

About a month ago, we took her into the GI doctor. Both doctors she saw were immediately convinced she has an eosiniphilic disorder (an autoimmune disorder where the body reacts to the protein in foods). They determined she would need to have an endoscopy and sigmoidoscopy performed to biopsy the tissues in her digestive track. (this is the only way to diagnose an eosiniphilic disorder). Pending the results of those procedures, she would most likely be put on an elemental formula diet with little or no other foods allowed. We are hoping they are wrong.

About 3 weeks ago, Ava's pediatrician ordered another round of testing prior to the scopes. I felt this was a waste of time, but I took her in anyway. Last week the pediatrician called and informed us that a couple of her labs had come back abnormal. Apparently, the first round of labs a couple months ago showed an elevated level of methylmalonic acid in her urine. This time, her urine and blood were tested and elevated levels showed up in both. Long story short, elevated levels of methylmalonic acid present in both urine and blood, is the main diagnostic test for methylmalonic acidemia-- a very rare genetic metabolic disorder. I will not bore you with the details, but basically it means that your body is unable to process fats and proteins correctly and methylmalonic acid builds up in your system causing-- let's just say-- bad consequences. We are hoping they are wrong too.

In addition, Ava has been struggling for the past 5 weeks with her asthma. We can't seem to keep it under control and she basically sounds sick a majority of the time.

So that is where we are. She is scheduled to undergo her scopes tomorrow morning at Children's hospital, and will have an appointment with the geneticist next Tuesday. We are worried with the procedures tomorrow, as there is some concern with her allergies and asthma in conjunction with the anesthesia.

I obviously want everyone to be wrong and have her magically begin to turn this around on her own, but I now realize that I may have to accept some challenges. You can pray all day in vain for something you're not likely to get, but I have found it more productive to accept the things you can't change and begin to pray for the best likely outcome.

So, if any of you feel inclined to keep her in your prayers, we would sincerely appreciate it. We are praying for answers how to help her grow and be happy and healthy, and hoping for the lesser of two evils-- if you will-- in a diagnosis. And....holding onto a glimmer of hope that she will just outgrow all of this and be a normal little girl!


AMiller said...

Oh Kristin, I wish I was closer so that I could babysit your kids or take you to lunch or anything. My heart completely goes out to you. I hope things turn out well - or at least manageable. Ava is such a cute little girl!I will be praying for you.

spa said...

Thanks for keeping us in the loop. Our prayers are with you and Ava's name is on the temple prayer roll.

Bryan said...

Thanks for the update on Ava- I know we don't see you very often but we do worry about Ava- Know that you are in our thoughts and prayers-
Amber and boys

The Bryant's said...

Wow! I am so glad you wrote this because I am never sure if you would like to talk about it or not, so i hate to bring it up. I'm sorry that you and Ava have to go through all of this and I am so grateful for modern medicine. We are so lucky to be able to diagnose and treat problems that would have limited life and happiness in the past. I am right around the corner, so please let me know if I can help.

Laura said...

Thank you for posting this. Prayers for Ava and for her Mom and Dad, too.

Tiar Hatley said...

Thank you for the update on Ava. This has got to be so hard for your whole family. Challenges sure can suck sometimes. Good luck and of course we will pray for all of you.

Sarah said...

I hope the tests all went well! We pray for the best for you!!!

Wendy said...

Lots and lots and lots of hugs and prayers for you and Ava!!!

Heath said...

Hope everything is well with you guys...We've been thinking (and praying) for Ava and the rest of the family. Take care, and let us know if there is anything we can do.