Dr. Sasha

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.

Our good fortune

Chad and I decided several weeks ago to schedule an appointment for Lucy to see a pediatric neurologist in New York City that specializes in Rett Syndrome. To begin with, the appointment is on March 30th! This woman insists on getting newly diagnosed patients in as soon as she can to help create a plan for her and to give her family as much information, support, guidance, etc. as she can. So immediately it is pretty clear that she is passionate about helping families diagnosed with Rett Syndrome. I have been working with an intake girl from the Rett clinic where the doctor is located and after two phone calls to medical assistance it was confirmed that they will not cover any of The visit because Dr. Djukic does not have a provider number. But we said we were still going, even though the fee...out of our pocket now, would be $1215.00. People that love and care for us, over the course of two weeks, donated $850.00 to help pay for the appointment. We have never asked for any help and are so lucky to have these good people in our lives that are just willing to help!

Then, this week the intake girl called to confirm our appointment and to confirm that we would be paying privately. Her and I got to chatting since she also has a daughter with Rett Syndrome and then after some advice on driving in the city traffic, we hung up. About 20 minutes later she called back to tell me that the doctor decided to reduce our fee by 30% making it..$850.00! The exact amount of money we have already! And then that night Chad's dad called and offered to drive us to the appointment because he used to drive garbage to New York City and isn't afraid of driving like Chad and I are! He is going to take two days off of work to chauffeur us! Chad was instantly relieved to not have to drive us himself and we were so touched by Barry's thoughtfulness.

Plus, we have decided now to start working on building a modular house on land generously given to us by my parents that is behind their house and they have been right on the ball at getting people in line to do the things that need to be done to get the land ready. Dad found free shale, a friend of his is bringing a bulldozer to make a road, and another friend is planning on doing the basement for us! They have to call people, have it surveyed, etc. and like the day after we told them our plans they were on it.

I believe, and have always believed that people are inherently good. Chad and I are fortunate enough to be surrounded by friends and family that are outwardly good and we have always known that, but then they still will even surprise us at how kind, generous, and thoughtful they can be. So this stupid, heartbreaking thing has happened to us, but then people just do nice things to help us and support us, and assist us in providing Lucy with the best care that we possibly can. I don't even know what to say to explain how grateful we are to everyone. So even in this unfortunate situation, we have still found fortune at every turn from so many different places.

Snarling like a leopard

For as long as I have been having dreams, I have occasionally had these two different kinds: one where I can only open my eyes for a few seconds at a time and then I have to close them and another where I am trying and trying to get some where, but my feet feel like they are slogging through cement or quicksand or something. I would have to say that the feelings I have often experienced during those dreams pretty accurately describe how I have felt since we received Lucy's diagnosis. Those feelings include: frustration (obviously), anger, confusion, hope (like when I would get a few peaks from my opened eyes), feeling lost, terror, more anger, sadness that I will not even try to explain, determination, anxiety...and yet more anger.

After joining the International Rett Syndrome Foundation, they sent us (free of charge!) the Rett Syndrome Handbook which literally is about two inches thick. There is just so much information that I don't even know where to begin and so I just choose a section at a time and read it and learn about yet another aspect of this stupid freaking thing that is taking over my sweet Lu. And this disorder effects her entire body, every aspect of her life, so I am still frantic all of the time trying to figure out what we need to do and where we need to go from here. She needs to start experiencing and experimenting with communication devices, but I feel like we also need to focus on getting her walking as soon as possible to increase her chances of staying upright and mobile. But there is so much to know and unfortunately our wonderful therapists and pediatrician do not know much and so I am left to search through this book and talk to others that do know more and then share it with everyone else. And all the while I feel like I'm partially blind and I can't get my feet to move!

Another, slightly more drastic feeling that I experience (a little more often than I would prefer) is that I am totally and completely going to just lose my mind. Like I could tear a room apart while screaming and snarling like a leopard. Thrashing about, breaking windows, smashing furniture...the whole 9 yards. I guess though luckily I think about it and maybe just wish that I could, a fantasy perhaps, but I'm not a destructive kind of gal, so I would feel so bad afterward, but geez I just want to annihilate something sometimes. As Lucy's cells were multiplying, shortly after conception,this mutation took place; that is how I understand it anyway. Man that pisses me off! It makes me so angry that it has been lurking in there all of this time and nobody knew! But it's certainly not done lurking! That's one of the hardest things about this is that she will just keep changing and losing her hand functioning. But when it will happen is uncertain. We are going to see a specialist on March 30th in New York City who will hopefully be able to give us a better idea of what stage she is in and what we can expect based on where the mutation is on her chromosome.

But what I do is just keep on keepin' on. Then I have a break down, rebuild, and trek on. What else can I do. Lu needs me to act as "normal" as I can. She needs me to feed her, love her, cuddle her, change her pants, sing to her in the tub, read her books...and make the best of Rett Syndrome. Chad and I are her big bats. Her super heroes (I'm probably Batman and he's probably Robin...although he does fund this operation...) Since I have made it back to Jazzercise, the whole time I think about how I need to be strong and healthy to take care of Lucy. We are her everything, but she is our everything too.

PS. I did not proofread this so I apologize for errors!

Trying to be heard

At Lucy's 9 month appointment last year with Dr. Kilian Brech I first shared my concerns regarding Lucy's motor development. He said sometimes kids just take longer,which I know is true. But then he said, "Yeah she definitely isn't winning any speed contests there. But I wouldn't run out and get her evaluated by Cen-Clear just yet." After a few weeks of thinking that I did think she needed evaluated and I didn't have to take his stupid, condescending advice, I did call early intervention, and even though she didn't qualify at the time, it helped to move things along three three months later when she did qualify. So that was my first experience with someone being dismissive of my concerns and reacting in a way that made me want to scream in their face. And quite honestly, many people I love and who have meant well, in addition to people I don't love and barely know, have all said things of this nature and made me feel like they were trying to help me understand that I was being ridiculous and over-reacting. But as it turns out, I wasn't and I knew I wasn't then! And I will never, ever, ever, for as long as I live, forget what Dr. Brech said and the attitude that he had.

I think people tend to react in a dismissive, maybe patronizing way when someone has a concern about their child for several reasons. Maybe they do see the same things and have the same concerns, but don't want to be alarmists, like they feel you are being. Also, seasoned parents, I have noticed, tend to like to brag about being slightly less observant, overprotective, etc. as they have each child and seem to want everyone to behave the same way, thus acting like you are a paranoid, coddling, freak for paying so much attention to your child. People probably act dismissive because what you are saying scares them, makes them sad, whatever, and they just want to ignore it. My goal here is not to launch an attack on people who tried to deter me from seeing Lu's troubles, but maybe just to deliver a big fat "I TOLD YOU SO." and to encourage people to think carefully before insinuating that a parent who has concerns, any type of concerns, regarding their child, is being unreasonable. I obviously take absolutely no joy in the "I told you so" as is usually the case when people get to say that, because I wish more than anything that everyone else was right and I was wrong.

But I'm going to tell you what, and I told Chad this the night we came home from the doctor's appointment; I think I have always known, in my gut, and in my heart that there was something more going on than "just" hypotonia and that whatever it was, was likely not something that was going to just go away. And because I had that strong feeling, it made people's dismissiveness that much more difficult to handle. And there are things people have said, just like Dr. Brech's comments, that will stay with me forever. Because I sat day in and day out trying to "fix" things and saw over and over again things that seemed to say, "Nope, you can't fix this." So I guess my point is just that it hurt when people didn't believe me and listen to me, because I was right. We have experts now to help us, but I am the expert on Lucille May Shaffer;I always have been and I always will be. I am the leading expert anyway, and Chad comes in a very close second due only to the fact that I spend more time with her while he's at work. So now we will have a "team" of people to help us decide how best to care for Lucy for probably the rest of her life, but Chad and I will always be the team leaders and we will always make the final decisions, and we always make sure that we are being heard, loud and clear.