In Limbo

Well, here we are on the other side of the big appointment and I'm feeling pretty good about things. It started with a visit with an intern and some lady from Italy joined her (she didn't talk much and I never fully grasped her role). We talked to the intern about Elle and my history with pregnancies, Elle's history, and mine and Rob's family history, including how many in our family, how many kids our siblings have, lots of stuff. Then they left and had a little meeting with the doctor. After their meeting, they all came in and the doctor introduced himself to us and we got started. Because of all I'd filled out and mailed in, and his meeting with the intern, he already had wheels turning about what Elle's symptoms might mean. It turns out that his initial 1st best guess was changed after spending some time with her. He came into the room thinking she most likely had Rett which is what my OT had suggested (and scared the crap out of me).

After observing her for himself he thinks this is not the most likely scenario. In person, she presents symptoms more congruous to "Angelman's syndrome". After questions, a pretty informal exam of a few body parts (mouth/teeth, belly, back and legs), he feels fairly good about this being what she may have. Rett is still in the running, but after a lot of explanations on how genetic mutations work, he explained that if she has Rett, it would be a variation of it and not classic Rett. If she has Angelman's, she could indeed have straight up, classic Angelmans, or she could have a variation of it. (If you think at this point in my knowledge I am going to be able to explain cohesively the difference between classic and variations, you are mistaken. I can tell you that symptoms vary in severity with these syndromes, even when you have the same strain. If you start talking about different strains or variations, they vary even more.) He explained that there is a simple blood test that can prove she has it (it detects 80% of the strains or cases, I'm not sure which), so that is the path we are taking first. If it comes back negative, he will test for Rett. If that comes back negative, then he wants to do another test that tests the chromosomes on a more molecular level (don't worry, all of this goes over my head) and with this test he would for sure be able to find the abnormality and diagnose the Little Little (it would pick up the other 20% of cases of Angelmans for sure). So, as long as insurance doesn't battle us, we will do the blood test as soon as we get the "all clear".

Rob and I feel good about Angelmans. It seems to fit her, and even though there are things about it we necessarily don't want to hear (severe speech impediments, severe cognitive disabilities, etc.), we can't ignore that fact that it feels right and most of all, that Elinor feels like she is exactly who she is supposed to be, so we can't argue with what we know and feel. I linked Wiki's page on Angelmans with this post, so you can read up a little about it. The doctor was optomistic that she won't be battling the seizures since they haven't manifested yet. He said they manifest before two and since Elle is closer to two then one, he felt like this probably won't be a factor. Wiki says under 3, so I don't know. I am nervous about seizures. They seem to go hand in hand with the kids that have difficulty sleeping longer then 5 hours at a time, which Elle also has no trouble with (she is and has always been a fantastic sleeper), so either all that is in our future, or we are incredibly blessed, I don't know, but I feel hopeful.

There is A LOT I want to say about how I feel about this diagnosis, but I didn't name this post In Limbo just because it is a Radiohead song. I named it that because I feel that's where we are riding right now, waiting for a diagnosis, and talking too much about my feelings of Elinor having this syndrome is a little premature. (Translated: If the doctor is wrong, I would feel like an idiot). I did ask the doctor if he thinks there is any way we are NOT dealing with a genetic problem and he came back almost positive that this is the place we need to be. I am quite surprised with the amount of peace I feel knowing this. I explained a bit about how a genetic problem, while scary, feels easier to accept and know that Elinor was predisposed to be who she is and nothing I did or didn't do would change that. I was probably more worried I did something wrong somewhere in bringing Elle into this world then I admitted. I even entertained the possibility that she had gotten hurt sometime falling or something that had traumatic consequences and I didn't realize it (hey! I'm a mom, I worry). So basically, this is where we are at, we will keep you informed cause there is definitely more to come. The doctor is optimistic that we can have the test done and the results back in about two weeks.

Elle taking a comfort/bottle break with daddy while at the hospital.

Original Comments  

5 comments:

Amy said...

I just had a long comment get deleted so I am testing.

April 13, 2011 10:17 PM

Amy said...

OK, I guess it's safe. Well Ems, this has got to be such an emotional time for you guys. I know things aren't settled yet so I won't say a lot either, but it was interesting reading the wiki article about Angelmen's and to see how much it seems to describe Elle's characteristics. Scott agreed also. Even the sucking issues like not taking a binkie when she was a baby is explained. One thing is for certain, though, that Elinor is one special girl with a perfect little spirit and she is so loved. We love you guys so much and my respect for you is unmeasurable.

April 13, 2011 10:24 PM

Beth said...

Thanks so much for keeping everyone posted Em. I love to read all of the details (although I don't understand much of it). We're thinking about you guys and praying for you. Hey....let's get together sometime. We are minutes away from each other!

April 14, 2011 8:33 AM

megandjon said...

what a journey you guys are on, and what patience you have! thanks for letting us come with you with these blog posts. you and your family are important to me! You are doing so well!

April 14, 2011 12:33 PM

Matt said...

Thanks for the good cry. It finally really sunk in. I needed that. Even though I was there and talked to you a lot before and afterwards, it just all hit me in a really huge, good way. I'm so amazed and inspired by your motherly love and attitude. I'm so glad there are people like you for people like Little Little.

April 14, 2011 1:03 PM