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Saturday, May 9, 2015

Pandora's Box

There aren't many stones unturned in the quest to find a diagnosis for Raya. Sure, we have a list of diagnoses and symptoms masquerading as diagnoses, but we have never found that one thing. The one that would tie a nice, neat bow around it all. Odd as it may seem, I have always envied the people who had a name for what ails their children. When someone asks them, "What does he/she have?" they can respond with a clear and concise answer that ends in "syndrome" or "disease". Now this is not to say that I wish a syndrome or disease on my child, but when there is a laundry list of medical problems, having a nice, neat little name for it (whatever "it" is) would beat the heck out of my usual babbling of "Well, she has a lot of digestive issues and CP and a chromosomal thing that we don't know anything about and might mean absolutely nothing..." You'd think by now I'd have a well-rehearsed answer for that question but it still comes out different every time.
It was around this time 5 years ago that we started down the road of neurological and genetic testing. Raya had her first MRI at just shy of 5 months old.
The neurologist ordered a barrage of blood tests around that same time, and aside from some elevated lactic acid and pyruvate levels, everything came back negative. No Fragile X, no chromosomal disorders (uhhhh...except when they repeated the microarray later on and found the microduplication on chromo 18...), and no mitochondrial disease markers.

Oh, but wait.

I found out 5 years later, at our genetics appointment in February, that the mitochondrial DNA labs were never done. They were ordered. I'm pretty sure they were ordered more than once. We did blood draws for so many labs that I had always just assumed the mtDNA and nucDNA labs were completed too. Turns out they were never done. We never got any denial letters from insurance for them, but insurance denial would have been the only reason for the lab work to not have been done. Trying to get insurance approval on genetic testing is like banging your head against a brick wall. We were also supposed to have done parental testing for the chromosomal duplication, but insurance would not approve it. With nearly any other area of medicine, the doctor's office staff would be the ones who seek out insurance approval but not genetics. I was told that I would have to do the legwork myself or we could pay out of pocket, and who can foot an $18,000 bill for a couple of genetic tests?! So we never had the parental testing done, which may have helped us determine whether Raya's duplication is significant to her medical conditions or not.
At our last visit with the geneticist a couple years ago, we talked about mito testing but agreed that muscle biopsy would be much too invasive and really not appropriate given how much Raya's condition had improved by that point in time, so we opted not to do it. I had decided we wouldn't really need to bother going back to genetics, but then we had more labs that were off when we saw the neurologist last fall. She discussed the results with the geneticist and I got a phone call saying that he wanted to see us at his next available appointment. In 6 months. (super urgent, right?) I got lucky and got us in at the 4 month mark.
After waiting 4 months for our appointment and trying not to stress about why the geneticist needed to see us, the appointment was kind of a let-down. He didn't really know why we were there. (gah. because you told the neurologist to send us!) After scrolling through years' worth of her lab results and breaking policy by printing me a whole stack of them instead of making me order them myself through medical records, he said he found what had prompted the neuro to send us to him again and that it was the same things that had always been a little off when we had run them. Then he brought up mitochondrial DNA and nuclear DNA testing, and that was when I found out that the tests had never actually happened. He asked if we wanted to try and have them done and I said yes, so they sent off the order. It was denied by both insurances and we were again presented with the comical option of paying the $21,000 tab ourselves. Thankfully, one of the local mito moms that I greatly admire pointed me in the direction of a different lab and said it was more likely to give us the information we are looking for than what they had ordered anyway. The lab also has a financial assistance program that I didn't think we'd qualify for but we DID, and it reduced our OOP cost to $50. The insurance approval happened really fast, the financial assistance program approval happened in about 10 minutes, and the collection kit was waiting for me in the mailbox when I dragged my sick self out there yesterday. (fever of 103-105. happy mother's day to me.) Having it happen so fast was really exciting and I was feeling so good about finally being able to have this done!

Until I opened the envelope and the reality of it hit me. Maybe it's the fever talking, but I got a little misty-eyed. It's a little genetic Pandora's Box. Schrodinger's saliva tube. What if?? What if the results come back and once again tell us nothing? I mean, yeah, it would be REALLY awesome to rule out mito, but what if we can't rule out mito? What if I just don't want to know? I do but I don't. It's a feeling akin to finding out the gender of baby #3 when we already had a boy and a girl. I thought about how fun it would be to not find out and let it be a surprise. I waffled back and forth for months until it was time for the anatomy scan. Ultimately my need to know won out, and so it is with the mito testing. I don't want to know but we need to know. Now the fun part will be collecting the much larger than expected amount of saliva required for the test from my orally-aversive 5 year old. I explained the process to her today and told her we would do it tomorrow, and that it won't hurt and she can have one of her special treats after. I'll send it off in the mail on Monday and then we will wait and wonder. Hopefully the results will be quick just like everything else has been so we won't have to wait too long.

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