Yesterday we left here at 6:30am and returned at 9:30pm! Our journey took us to the Bronx in New York City...one of the last places I would ever actually choose to go! My wonderful father-in-law drove us and we were so incredibly grateful for that! Chad and I would most likely have made it to the hospital, but had several nervous breakdowns on the way! So we met the famous (in the world of Rett Syndrome anyway!) Dr. Sasha and she indeed did live up to all of the good things we have heard about her. And Lucy, as usual, was a dream come true! She was patient, cooperative, and happy for the most part. She nearly exploded with love for the strawberry milk I got her at supper, she napped, listened to stories, laughed, and took a giant poop on the way home! It was a long day obviously and she was the trooper she always is!
So, here's the info: Dr. Sasha said over an over, and almost in a surprised tone, that Lucy was so alert and a quick learner. She showed her a button to push to make a dog bark and how to do it, and Lu did it right away! She said she thinks her mind is pretty much like a regular girl her age and should obviously be treated that way. So that was the great part! Some also very comforting information she gave us is that she feels based on seeing Lucy and all of the info I gave her in the intake packet, that the Destructive Phase has already occurred. She said that at different times in her life Lu may experience more difficulty with her hands and have less use of them, but that overall it will not get much worse. That is also great news since she does still have quite a bit of functioning in her hands; she uses her spoon and fork with help, plays with toys, brings things to her mouth...so we will take it! Now, at the same time, her hands will not get better; we can't make any of the functioning that she has lost come back, but we can help her learn to do things in other ways and with adaptive tools.
Now, some sadder thoughts from Dr. Sasha, but by no means a 100% set-in-stone prediction is that she doesn't feel sure that Lucy will be able to walk. She said it concerns her that she hasn't been able to learn to crawl yet and there are other signs that she looks for to feel more confident that girls will walk, but she doesn't see them in Lu. Now of course that's certainly not to say that she won't learn and that we should quit trying, but it was just her honest opinion which we of course appreciate. She said it is better, also in her opinion, to have a quick mind and slow legs than the other way around...and we agree.
Now, some important things to keep in mind about Dr. Sasha in comparison with Dr. Coffman who gave us the diagnosis is that while Dr. Coffman is likely a competent pediatric neurologist...he was at least able to figure out what to test Lu for...he is in fact not any kind of specialist on Rett Syndrome. Now he never said he was, but the information that he gave us on that terrible day of February 29th is really barely accurate in any way. For one thing, Lucy's brain is not "deteriorating" as he said it was. The apraxia that is caused by Rett Syndrome effects her entire body and can get worse throughout her lifetime, but her brain is still active and functioning. Dr. Sasha has a patient who is 66 years old! So Lucy can live a long life possibly! He just made it sound so incredibly hopeless, and Dr. Sasha, who is a specialist on Rett Syndrome was able to give us some more positive imformation and some hope.
Please see the next paragraph in regard to the hope she gave us...
Dr. Sasha is also heavily involved in the research for a cure. She said that she believes that by the time Lu is 10, there will be a cure available to humans. This woman takes her job very, very seriously, and she feels very strongly about her patients and their families. One of the first things she said when the appointment began and is that she believes first and foremost when parents receive this diagnosis that they need to know correct information regarding the specifics of the condition. Therefore Chad and I feel like she would not say something so optimistic if she truly did not believe it. She takes it too seriously. But it is too scary for me to think about that right now. Too scary to let me get my hopes up since we don't know 100% what will happen.
But it was a good appointment.