Friday, September 11, 2009

Becca's Story

Since we want this blog to be a record of our journey with Rett Syndrome, I thought it would be a good idea to record a little bit about Becca's life so far.

March 20, 2007. Rebecca Jane Whitmer joined our family. The second I laid eyes on her I knew she was special. I can't really describe it in words. It was just a strong feeling that I was extremely blessed to have such an amazingly strong and special girl as a part of our family. The first part of her life was quite uneventful. She was a healthy, happy baby and very content most of the time. Her only problem was that she didn't know how to suck when she was born. It took her until she was two months to learn to nurse. Looking back on it we now realize that she was a floppy baby. She learned to lift her head a little bit later than other babies and it sure seemed a lot harder for her.

By five months Becca was really good at rolling from her tummy to her back and she wasn't consistant at rolling from her back to her tummy until she was seven months. But she was quite the roller.

The first time we really started to worry about Becca was at around 9 months. We would try to get her to sit and after a few seconds she would fold in half and then she couldn't get back to sitting. At around 11 months she wasn't really any better so we signed her up with the early intervention program. She started up with physical therapy right away and within a month we saw a big difference. She could get herself back up to sitting if she folded in half. Also around this time we noticed that when Becca would get startled awake she would shake really bad (looked like arm and leg convulsions). We didn't think it was a seizure because she would look us in the eye when it happened, but other than that, it looked like it could be a seizure.

Around this same time Becca had her first of many tests. She didn't like (and still doesn't like) to put weight on her right leg. She had an ultrasound of her hips and everything looked great and normal! Her second test came when she was about 14 months. The doctor referred her to a neurologist (Dr. Benedict) at this time and she recommended that we get an MRI to make sure nothing was wrong with Becca's brain. Once again, completely normal!

Next on the neurologist's list of things to try was an EEG. This test would be done when Becca was asleep and would show us if she was having seizures (at least during the test anyway). This test came back abnormal, but there was no actual seizure activity. So, once again, no answer. It only could tell us that Becca may be prone to have seizures. At this point, Dr. Benedict was almost positive that Becca had Angelman Syndrome. We definitely didn't agree. But, Dr. Benedict referred her to a geneticist (Dr. Rope) which we thought was a good idea.

Around 18 months Becca started figuring out how to get up to sitting all by herself! We were so thrilled! She would get up on all fours and then push up to sitting from there. This was a huge improvement. I remember that one of the most exciting things for me was to see Becca sitting up when I went to get her from her crib. But it was sort of bittersweet, because her shaking was getting worse. She would shake whenever she felt unsteady or got scared.

At 22 months we took Becca to see Dr. Rope. He was almost 100% sure that it wasn't Angelman Syndrome. Yay. But, he was also not convinced that it was anything genetic. He told us of a few tests he would do if he were to do testing. But, he didn't want to right away partly because it's harder to get insurance to cover at that young age and partly because it's easier to diagnose when they're a bit older. Besides, he thought it was neurological. So, we were sent back to Dr. Benedict with the idea that we would come back to see him in a year and at that point do testing if things hadn't improved. Dr. Rope also told us to contact him if Becca were to ever be admitted to the hospital. Apprantly, insurance will pay for some genetic testing if she were in the hospital. So silly.

At about 24 months Becca started crawling! Not like crawling all over or anything. It took her a ton of motivation and prompting to get her to crawl to a toy. But, she was moving a little more and playing in kneeling position. We were so excited to see these little improvements.

Things were moving along with not much improvement. We had noticed that Becca had started doing this patting motion with her hands basically all the time. She wasn't able to use her hands to pick up small things anymore (no more self feeding). Also, her shakiness had gotten quite a bit worse to the point that it was hard for her to get to her toys and play with them without falling over. She was still putting everything in her mouth and biting everything she could get her hands on. We attributed this to teething (2 year molars are brutal). But it's not like this was a sudden change. It had been quite gradual, so we didn't notice it right away.
Then one morning (about 26 months) Becca had slept in quite a bit later than she usual does. Then I heard her crying in a different way than I had ever heard her cry. It wasn't really loud, just a soft really sad cry. I went to get her and when I picked her up I noticed she was really floppy. But, I had to nurse our other child so I placed her on the floor in front of me and figured she just had to wake up. When Brian came out and picked her up she was like a wet noodle. He could hardly hold her because she was just slipping through his hands. Needless to say, we were really scared. She was just laying there not moving and when we would try to get her to sit up she would just moan. I gave her a drink and just let her lay there while we tried to figure out what we would do. And then, about a half hour later, she was fine. Not 100% back to normal, but she was moving around and acting pretty much like she normally does.

We luckily got an appointment with Dr. Benedict that afternoon. She told us that it sounded like she may have had a seizure before I went in to get her. But what she was most concerned about was that Becca seemed to be doing worse. So she had us schedue her to have another MRI and EEG the following week. And the results from those tests came back exactly the same...normal MRI, and abnormal EEG with no actual seizure activity.

With those results, Dr. Benedict decided it was time to come up with a reason for Becca to be admitted to the hospital so that she could be tested for a couple genetic disorders. Dr. Benedict had her admitted for a 48-hour EEG. While she was there she had a couple genetic tests one being the test on the MeCP2 gene (Rett Syndrome). She also had an eye exam and a swallow study. Both were normal. Of course.
That brings us to August 25, when we received the results telling us that Becca has Rett Syndrome. I'm sure I will never forget what it was like to receive that news. It was such a strange mix of relief and complete devastation. We had been wanting to know what was wrong with Becca for all this time and yet, I couldn't help but have a small part of me feel like I didn't want to know after all. But, we take it one day at a time. We have our hard days and our easier days, and I suppose that's how it will always be.
I had a lot of fun putting together a slideshow of Becca's life so far. Becca has always been such a beautiful, happy girl. I sure love her.
video

2 comments:

  1. Thanks for the update and timeline. It is good to remember the progression of things. The video is almost too much for us to take but is also very beautiful. Thanks for putting to together. Love all four of you and we are here to help as much as we can. Dad and Mom

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  2. Love the slide show, it is so beautiful. We love you all.

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