2 years ago
Tuesday, March 10, 2009
I know it has been a really long time since I have posted. I can only say that I have been really busy and I am sure you can all relate.
Della had her intake appointment with a neurologist from the Blue Bird Clinic at Texas Children's Hospital. The neurologist was so wonderful and I have never met with a doctor who listened as well as she did and who didn't rush our appointment. We spent just over an hour with her mostly answering questions about Della's health history and her development. We have an MRI scheduled for April 1st and of course we are anxious to get that over with. The doctor ordered some extensive labs to be done as well as a muscle and skin biopsy. She asked us to hold off on the blood work until Della is sick, even if that means we wait 6 months. Apparently blood drawn when a patient is sick, magnifies any abnormalities making them easier to see. It has been INCREDIBLY hard waiting. These labs could give us a diagnosis and I look at the paperwork sitting on my sink everyday and pray for patience.
At the end of our appointment I asked the doctor straight out if she had any "unofficial" ideas of what Della's diagnosis could be. She told me, without having any evidence other than what Della is presenting with, that her best guess would be Rett Syndrome. This is a genetic syndrome, like Down Syndrome or Fragile X, so there is no cure. Della does have quite a few of the symptoms such as lack of eye contact, general lack of interest, gross motor delays, non verbal, hypotonia (low muscle tone), and bruxism (grinding of teeth-Della does this constantly- day or night, happy or sad, it doesn't matter). However she doesn't have some of the hallmarks of this syndrome such as a developmental regression between 6 and 18 months, she sleeps well (maybe too much), and even though it is very slow, she is progressing.
It was also suggested that Della could have Angelman's Syndrome. She does have a lot of the symptoms of this syndrome as well; developmental delays, extremely happy demeanor, limited language, youthful happy appearance (in the video Della looks like she is 10 or so months old, but in reality she is over 2 years old). Whoever we talk to, be it her pediatrician or speech therapist, everyone has an opinion and none of them are the same. Anyway, we will know more after the blood work and the MRI.
As for now, we are relishing Della's accomplishments in signing and social interaction. She is also getting stronger and we continue to be hopeful.
**The next day...After some of your comments I went back and reread what I had written and it did come off sounding a little depressed. Our life is very happy and busy and we are so blessed. We go about out routine and I usually don't even think about the fact that we have a child with disabilities. I heard a comment about life and how we view it that really spoke to me. A college professor compared life to a white board with a black dot drawn in the middle. Many people focus their attention on that black dot, as if it were a blemish, and they fail to notice the large amount of clean white space surrounding it. We have really enjoyed being able to focus on the "white space" of our lives. I sometimes think I have reached a higher perspective and spend less time focused on the harder parts of life. Then, like everyone else, something will go wrong and I let the black dot overwhelm my view. Life is good for us and we are happy. The end.