Friday, July 25, 2008

Tom Petty Had It Right- The Waiting Is The Hardest Part

Today I want to throw a fit. Today I want and cuss and stomp my feet and scream because I am pretty sure I am going crazy. I do not know how I will ever make it until September when we finally get the genetic results back. The waiting is absolutely killing me. I am so convinced that Anna has Angelman syndrome and no amount of telling myself she doesn't is going to fix that. The only thing that will fix it is a definite "no" from the genetic testing. But even if the chromosome 15 deletion is not too apparent on HRCT (high resolution chromosome testing) but they suspect she might still have it then they will have to do more testing called FISH analysis (fluorescent in situ hybridization) - This test identifies certain regions on chromosomes using fluorescent DNA probes. FISH analysis can find small pieces of chromosomes that are missing or have extra copies. These small changes can be missed by the karyotype test. Most cases of Angelman are caused by a deletion on the 15th chromosome but some are caused by an extra maternal copy of some certain piece of that chromosome. Only 70% of deletion cases are picked up by HRCT so even a negative HRCT is nothing definite. Then there are the cases that are not ever proved genetically but are made on clinical diagnosis alone. Can you tel I've done a bit of research? On the happy side- Angelman kids are sooo cute. They smile so much and are happy most of the time and seem to have contagious laughter. On the sad side- they rarely learn to speak more than 50 words. They can comprehend much more than 50 words though. On the frightening side- they don't sleep much. I try to tell myself I must be wrong and then I hear Dr. Miller's voice in my head saying, "Mothers know, they are not wrong. When a mother tells me x,y,z is wrong with her child then without fail x,y,z is wrong with her child." The other scary thing is that so far, with Anna, I've been right. When everyone told me she was fine, I knew she wasn't, and I was right. The list goes on. I see things in her that others don't see. I have read page after page and blog after blog from parents of kids with Angelman and they could all be my story. UGH, I want the test results now. I guess God doesn't think the 13 weeks of bed rest taught me enough patience. I guess he knows best. We do see the new neurologist on Monday so maybe that will help a little. Who knows anymore. I just want a day where I just wake up and think about normal things and not about what is wrong with my baby and why can't anyone give me answers. I hope I don't sound whiney. It is just that this is so exhausting and I don't want to talk to everybody about it everyday because i know it gets tiring hearing about it but some days it just overwhelms me and i can't get it out of my head. I think that i may be about ready for another bump up in my medicine again. One thing is for sure, i am ready for bed...

1 comment:

  1. Hey girl, I hope you're doing well. I bet you are going crazy waiting for so long, but you are the most patient person I know. And you know you can call me anytime, I never get tired of hearing about Anna and all that's going on with you. You are awesome, love ya! ~ amy