The Seven Week Roller Coaster
The past seven weeks have been intense to say the least. I haven't been able to post about any of it because Mr. Right reads this blog and it's something I've been keeping from him. I don't make a habit of keeping things from my husband, but I couldn't see making him worry without any substanital proof especially since he's usually a wreck about the state of affairs in the world today.
So... Here's what's been going on: My aunt, C, had her biochemical evaluation for ALD in 1994, which was negative. She's got 4 kids, all very healthy so we figured that was that. Her daughter, my cousin A donated the eggs from which the Bee is now the living breathing result. However... HOWEVER, in the back of my mind I knew that females can have a false negative biochemical result. The only definitive test for females is DNA testing. Since my DNA was tested a few years ago, we knew which nucleotide contained the mutation, so testing was only a matter of a blood draw. Finally, as my brother's life was drawing to an end, I asked my aunt to get her DNA tested, "just to be 100% sure." We had been discussing this for a few months, and naturally she had no problem with it. We waited fo the reslts, 5 weeks of waiting. I didn't tell Mr. R because I saw no need to cause him further worry, especially if it was negative, which we were pretty sure it would be. Well...
It turned out my aunt is a carrier. Which, not only has implications for her own children, my cousins, but for our Bee. Instead of waiting for my cousin A to get her test results in, (another 4 - 6 weeks), I had the Bee tested immediately. For males, the biochemical is definitive, but females need the DNA testing to be sure. Which means the wait time for the results would be significantly less. While this helped, I still didn't tell Mr. R. I knew he would be a total wreck waiting for the results, and crushed if it came back positive. So I kept it all inside. My aunt, her family, and my dad were the only ones who knew. Oh, and Luo Lin at Kaleidoscopic. I couldn't even share it with bloglandia because my husband loves my blog... I could just see him finding out that way...
When I had the blood drawn I did it early in the morning when he was at the gym. Unfortunately his iP*d went kaput so he came back early to find me and the muffin vamoosed. He called the mobile, and I told him we were at the lab having a bilirubin level checked because muffin looked a little yellow to me (maybe it was the lighting, yadda yadda...). I just wanted to spare him the worry. I was worried enough for both of us. So Monday the blood was drawn, the lab received it Tuesday, and the lab director said I could expect the results by the end of the week. Oh, what I went through, vascilating between confidence that he'd be fine and certainty that all we had been through was for naught; that he would be affected. I talked to my aunt that Saturday, and felt positive for the first time, like everything might actually be okay.
The lab director had been out on Friday, so he had been unable to let me know the results had been faxed to our pediatrician's office that Thursday. I called the pedi's office on Monday and they said that, yes they had received the results, but weren't sure what they meant. What?! Well, that couldn't be good. I mean, under impression it says "Negative" or whatever, or (for example) "C22/26 levels are elevated and consistent with hemizygote for adrenoleukodystrophy" So I'm figuring if they can't make it out, it's got to be the later. She said she'd fax it over. I stood and waited by the fax. Slowly it came up. Under impression it clearly stated: NORMAL RESULTS. I was so happy and relieved I frickin' cried. Then I called Mr. R into my office to tell him what had been going on. He had mixed feelings, worry and relief all at once. He was angry that I kept him in the dark, but grateful that I spared him the worry at the same time. Had he known, he wouldn't have been able to concentrate on anything. In the end, he realized I made the right decision for both of us; it was the right thing to do. Thankfully, gratefully, our Bee is okay. This is something I will be grateful for every day of my life, and that's no exaggeration.
We're waiting for A's results, but in the meantime my male cousin J had his test done... and he's affected. He's nearly 30, without any symptoms at all which is great. The problem with this disease is that it's usually misdaignosed; by the time the proper diagnosis is made, it's too late for any effective treatment. We're looking into preventative measures, to delay the onset for as long as possible. I will keep you all posted, with whatever findings we discover, so those with similar problems may learn from our research.
Gotta run, we're doing our Christmas tree and decorations. Mr. R asked what I wanted for Christmas, but of course my present has come early, and to be honest, I can't think of anything else I want or need. Mr. R can't either.