Welcoming Professionals

Well, unfortunately little Annie missed some school again last week and was down with a sinus infection all weekend. The good news - She’s back at school again this week, feeling better and stronger and we have once again moved passed a very hec-tic, all be it productive week.

Last Monday Annie had a PMR – physical medicine and rehabilitation apt. We LOVE our PMR doctor. He is so well educated on Rett Syndrome he has actually done research studies on our girls. I remember the first time we went to him. I walked in with a chip on my shoulder (I had, had it with doctors at this point) and a fist full of information about Rett Syndrome in one hand and a huge binder full of Annie’s medical history in the other. Basically this poor man was face to face with Mama Bear, and boy was she MAD! Let me start from the beginning. When Scott and I were faced with the diagnosis of Rett Syndrome in our beautiful daughter we were 5 months pregnant with a baby girl (did I mention Rett is almost exclusively seen in girls, oh, and it’s genetic!). Needless to say we were freaking out. Our pediatrician called me with the test results while I was at home by myself with 2 children (ages 2 ½ and 16 months) and oh, did I mention I was PREGNANT!!! We were NOT expecting this diagnosis, Annie was so young she was not displaying the “classic symptoms” so we had hoped that our Rett test was going to be yet another negative and we would move on. No such luck. My knees buckled from under me and it was all I could do to call Scott and scream “Annie” …… OK, moving past this horrible vision. My point is, our pediatrician and the docs that followed (our neuro who left us the news of Annie’s diagnosis on our answering machine!!!) were the most uncompassionate, negative, uneducated people we could ever have come in contact with. For the entire first year of Annie’s diagnosis Scott and I were her physicians. Since I was home with her I was her primary care and Scott was our second opinion. It sounds funny but in all reality it wasn’t. We were lost, helpless and terrified for our daughter who had some disease that clearly no one had ever heard of. After a year of treating Annie on our own we were introduced to 2 neurologists who were well versed in Rett Syndrome and that gave us the confidence to go searching for other professionals. Today we have a team of 4 specialists that we couldn’t be happier with. Dr. Dabrowski, our PMR is one of the best. He treats Annie and I with such sincerity and compassion. It is a relief to go to him and know that he will take our problems seriously and he knows the struggles that we go through and doesn’t try to trivialize them. What a wonderful feeling it is to know that my little girl is in such great hands.

The other professional that we had the pleasure of working with this week is our school Aug. Comm. Specialist. Communication is key for our girls with Rett. Imagine being fully aware of all your surroundings, all the people, all the conversations, everything but not being able to voice a word. Not being able to control 1 thing in your life, imagine the frustration. This is how it is for our girls with rett syndrome. And this is why its so important to find some way of allowing them to communicate. Our wonderful aug comm.. specialist understands this and what’s more has actually gone to seminars and heard people speak on communication in girls with rett syndrome. We actually both showed up at this meeting with the same set of notes. The meeting couldn’t have gone better!

We thank God for bringing such wonderful, caring, compassionate professionals into our lives. It was a long road getting here but we now know how blessed we are when we find a person fully aware of our situation.

PS. Great news – Annie remains seizure free – her VMR test results came in and there was no seizure activity!!

Annie wrapped in her heated blanket catching some much needed rest.

Annie feeling much better and yes, she IS standing all by herself!

Communication

First I want to post a picture of smiling Annie. After last weeks rough go I think it's appropriate to show our Annie is feeling better. Her smile makes me smile.

We got a call last week that we have a scheduled time to meet with an augmentative communication specialist! YAY - this has been an 8 month wait!! We are sooo excited to get our little Annie talking. Annie was diagnosed with Rett Syndrome at a very early age (16 months) because she was not developing at the appropriate level. We believe Annie started her regression at age 9 months which is too early for talking so we have yet to hear Annie speak a single word. When she was young she would say "ti-ti" for tiger and today we get an occasional "ma", "da", and sometimes we even think we hear a "hi" or "by". There are always sounds and noises that she gets out and we just love it, we always try to put words to her noises. Unfortunatly since Rett Syndrome takes away Annie's use of her hands we are not able to do sign language or even point, however, Annie has been working on some early aug comm devices. The "big mac" is programed everyday for school so she can tell her friends what she did the night before and then her teachers programs it so she can tell us what she did at school. All she has to do is push the big button. We've had this device for almost 2 years now and have had a lot of fun with it. We program "good morning", "happy Birhtday", "Merry Christmas", even "I love you!". But its just a start, its not really Annies words she just activates the device. We also have a "Go talk" which lately has been a challenge because Annie is still slowly loosing the use of her hands and at this point it has just become to hard to use. At school Annie has a 3 choice communicator where she can choose between 3 different items (usually at snack time: cracker, cereal, drink). She pushes the button in front of the item to make her choice. Again, this is not really Annie's voice and she can't really communicate, just make a choice. Lately we have been using a yes/no eye gaze board. This is getting to be a bit more fun. Annie can tell us yes or no by just gazing at the appropriate picture. This opens up a whole new world because we can ask her about her likes and dislikes. We are now hoping with the Augmentative Communication Specialist that we can get a little bit more sophisticated and allow Annie to express herself more. The devices we are looking at are the Tango and the Dynavox Eyemax. Both devices would give Annie the freedom to "talk" - not just make choices but actually have a say in everything she does. We are so excited to give Annie this opportunity. It's been a long wait but we're confident it will be worth it!

Annie using her 3 choice communicator - James is trying to figure out which matchbox car is her favorite - she thinks that's pretty funny!

Annie using her bigmac. On days where her hands just don't want to cooperate she'll use her arm to push the button.

James helping Annie with her yes/no eye gaze board.

In the Lords perfect timing He will heal our Annie and she will tell us everything that she has been thinking and feeling. We dream about what her voice will sound like and what her first words will be. James works so hard with his sister and supports her well beyond what you would ever think a 5 year old is capable of. I know her first word will be "James" shortly followed by "I love you".

Bumpy Roads and Happy Outcomes

This week was a tough one for little Annie. It started Monday when I got a call from school to come pick Annie up because she was crying inconsolably and seemed to be in pain. We brought Annie home and we observed the same thing, which, I should add is definatly not an unusual circumstance. Annie ofter screams for hours inconsolably for reasons unknown to us. As parents we are sure she is in pain and have taken her to many doctors and run countless tests that all come back normal. After a few days the pain seems to subside and we have our Annie back. Needless to say Monday was a rough night and Tuesday I didn't even attempt to take Annie to school as she was still writhing in pain. I made my usual calls to specialists and came up with no answers. By Tuesday night the pain was not subsiding so we decided to take her to the ER. Going to the ER is a very difficult decision for us to make. We have had many trips there in Annies short 4 year old life and we always leave frustrated wondering why did we even go. It's tough to walk into an ER with a non verbal, screaming child and not know why she's screaming. We tell the doctors that she has Rett Syndrome and there response is either they've seen a milllion kids with that (which is an obvious lie because there aren't millions of us), or they are honest and say they've never heard of that. Then we attempt to educate a doctor (who is usually to arrogant to take the time to listen to us) as we are trying to console our Annie. After 5 or 6 hours we leave with no clear reason for Annies distress and discharge notes to see our physician the next day. Clearly we are reluctant to go. In this case we just couldn't wait and were pleasantly surprised when the ER doctor took our advice and ran every test that we asked for. We came to the realization after an X-ray of her stomach that Annie's intestines were filled with gas that was causing her excruciating pain. Annie has a g-tube which allows us to release gas pressure and she is on medicine for excess gas as well so this was weird. Unfortunatly rett syndrome causes Annie to "gulp air" and to such an excessive amount that we can't control it. Thankfully our GI doc came up with a med that may help when this happens. Sooo we finally had our first successful ER trip!

Wednesday Annie was off and on, still in pain but not as much. Mom and Dad had a meeting with Annies teachers and therapists regarding exactly what Annie is doing in school. We need to make sure she is up and walking as much as possible and being given a chance to voice her opinion and make choices. We want her to be treated as the other children are treated and allowed the same freedoms. These meetings are always hard for us. After almost 3 years of living with the diagnosis of Rett Syndrome I still have such a hard time talking to people about Annie and what she is able to do and what her set backs are. I try so hard not to become emotional but usually end up speding time afterwards in tears over all that Annie has to endure. Meetings like this take a lot out of me but I'm happy to report that everyone was very receptive to our concerns and suggestions. We are blessed to have a wonderful support system for our angel.

Thursday was Annies cardiologist appointment. Scott took time off of work to take Annie to her appointment which was so great because then I could spend time with James and Gracie, however, I was dissappointed that I had to miss Dr. Weinhouse. Dr. Weinhouse was the first specialist we saw after Annie's diagnosis with Rett Syndrome. He is the most compassionate, loving man to ever grace the medical field. He is calm, supportive and has the most beautiful things to say about our Annie. Annie sees a cardiologist every 2 years because girls with Rett Syndrome can have something called a Long QT wave which can disturb the hearts rhythm and can be serious enough to cause sudden death. 2 years ago we were cleared so this was an appointment to basically make sure everything is still going well. Our ECG came back that we do infact have long QT. Dr. Weinhouse calmly explained that he was going to run the numbers on his own and when he did he came up with another finding. He assured us that Annie DOES NOT have Long QT but in the same breath added that he wanted to see her back in 6 months (rather than our usual 2 years). This left us with even more worry about our precious little angel. We have again learned the lesson that we are not in control. We lift Annie up to our Lords very strong and capable hands and with aching hearts take comfort in the fact that He will work all things for Good. As many times as we've done this it never gets any easier. We are now praying that at Annie's 6 month recheck we will not see any signs of Long QT.

Thursday night Annie was feeling strong and free of pain. She had slept the better part of the day so we decided to keep her up late and have her do some PT, since she hadn't spent much time off the couch this week. Annie always knows how to cheer up her mom and dad and Thursday was no exception. After about an hour of walking and standing and working out Annie surprised us by going from sitting in a chair to standing up all by herself! Thank God for little miracles that keep us going!! She proceeded to do this 3 times! An absolutly amazing angel!

Friday turned out to be a beautiful 60 something sunny day so I had Annie play hooky from school and took her and Gracie to downtown Rochester to take a walk by the water. A beautiful end to a rough week. Atleast we can look back and see all the blessings that have come from our struggles. We hold on to the positive moments and they take us from week to week, month to month, closer and closer to our perfect day when we are cured!

We thought it was appropriate for Annie to wear her "got faith" shirt this week!

Annie looking at the river in downtown.

Gracie pointing at the "quackers" aka ducks.