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!