News

Yesterday was the day the a lot of Ava's DNA testing would be completed. The Genetic Counselor did not anticipate that we would know anything until next week. 5 of 9 results came in. So I got a surprise call at 4:30.

We are getting nitty gritty and complicated. Ava did not have any gene mutations on any of the results we received. This would be on 2 of the 4 known genes that cause mitochondrial depletion. Of these 2 genes I knew one would not have mutation as it was checked in Eric from his muscle biopsy. The two that are not back yet are the two that are the ones we think most closely resemble Eric's picture (POLG1 and DGUOK).

Two other results were to just check and make sure that we weren't missing anything. Those genes were fine, as anticipated.

The hearing loss panel, which we were not expecting for another week or two also came back without mutation. What was tested were the 4 most common genes that cause sensorineural hearing loss. (There are about a 100 genes that can cause this.) The genetic counselor has a call out to the geneticist who sees children who have hearing loss without having a syndrome. The question is to see how many children does she/he see that do not have a mutation on one of the 4 most common genes. This will help us know which path to follow if we don't get any other answers from the remaining labs.

What are we waiting on? All of the information that we are most interested in, of course.

The sequencing of the 2 genes that cause depletion. We are also waiting on the "mitometa array". (I know your are thinking, 'well of course we are'!) This is a test that will look at all the nuclear mitochondria and see if there are any deletions on any genes. If there are it will point us in the right direction to see what to test next.

Another test we are waiting on is one that will tell us IF Ava has any mitochondrial depletion in her blood sample. This will tell us her mitochondria ratio. This can also be tested in muscle, as it was in Eric. He was 99% depleted in his sample. While the percentage of depletion may vary depending on if a patient is symptomatic, depletion will be evident none the less. I am hoping she does not show depletion in this test. I also have to try and hunt down Eric's records to see if they did this test on him as well. (We have results from muscle, but not blood).

Disclaimer: This is how I am understanding what we are being told. I hope I'm wrapping my head around it correctly.

Less confusing information I received yesterday is that the ENT is willing to look at Ava, but only likes to clip frenulum's if they are tight. I am going to plead my case and try to get him to do it. If he won't I'm going to another ENT who will. Ava's pediatrician and I feel like it's not going to hurt her any so why don't we give her a chance. I totally understand that it may not help, but what the heck can it hurt????

We should know more results from Ava's testing by about Tues. Eric's DNA is now just recently at the lab in Baylor. There was some type of UPS glitch having to do with AI DuPont's lab not using UPS. So the sample didn't get sent until Thurs. It's plain annoying. Eric's POLG1 sequencing won't be done for a month.

What is frustrating is that once we "know" we won't really. We have no way of knowing what Ava's health will be if she does have a mutation. We only will know that we have to watch her like a hawk and be on alert.

Our current main tasks are: 1. Keep Ava well. This is going to be tricky because flu is rampant around here right now. 2. Get that kid to eat. 3. Hunt down Eric's Records to see if there was a depletion in blood test. 4. Get her frenulum clipped. 5. Collect urine sample (the bane of my existence).