As some of you already know, I have been researching two different hospitals to possibly take Alicia to so that she can see a team of specialists that actually have knowledge of Rett Syndrome. The one that we decided we would pursue was The Rett Syndrome Center at The Children's Hospital at Montefiore in New York. So I had actually emailed a few messages back and forth with the director of the center (the neurologist) and she always got back to me very quickly. I had heard her name a few times on Facebook from parents that take their girls there. They have had nothing but wonderful things to say about the center and the team of specialists that work there.
So thus began the requirements to make before we even got an appointment date. I had to fill out a 13 page intake packet on various information about Alicia from the time she was born up until now (keep in mind she's already 8). The registration form was a piece of cake, one page and just basic information (not many brain cells or sanity lost there). Last Thursday I sat down at my computer to begin filling out the forms (decided that I would fill them out on the computer since I got them through email and then just email them directly back to the center to expedite the process of getting Alicia's appointment).
I sat at my computer (luckily at the time I was home alone) and began the tedious and heartbreaking work. I say heartbreaking because the type of information I was filling out was when my daughter reached her developmental milestones (if she reached them, when she reached them, if she "lost" them and if she regained them). All these milestones had to be filled out in the form of months. As I sat there reliving all the milestones that Alicia hit so late, made but then lost and never regained and some that were never gained at all; tears streamed down my face. It was like reliving everything all over again and it hurt badly.
I was finally through about to page 10 and had to go get Alicia off the bus and Hailey from camp. I "saved" my file and then when to re-open it. However, the file was nowhere to be found!!! I thought I had saved it after changing it from a "read-only" file but it didn't work. I was absolutely devestated!!
To make a long story at least a little bit shorter, I restarted all the paperwork again, finally did get if finished and off by email Thursday night, it had taken me 7 1/2 hours to do it. So I ended up reliving it about three times once I had finally finished. I was emotionally, physically and mentally drained, I didn't have anything more in me.
The next couple of days were met with frustration and anger that why do we have to go through this and why does my daughter have to have Rett Syndrome. There are days that I truly hate Rett Syndrome and these were a few of those days. There were some other stresses going on also and by Sunday night I had just had enough and broke down. It's not the first time I've "broken down" but let me tell you, this one was a do-zee!! When caring for a child with special needs, parents often wonder: Why, Why Me?, Why did our child have to have this horrible disease?". I still do that a lot. But I know that God gave us our daughter because we were meant to care for this special little girl. I continue to question it and will continue to question it, that is something that is going to take me a long time to work through.
A "light at the end of the tunnel" to this blog is that we have gotten an appointment for Alicia to be seen by the team of specialists in New York. I was so nervous calling our insurance carrier, petrified that they were going to tell me that these specialists were not covered. I was especially nervous because these specialists are all of out state. But praise God, they are covered. They already got us in for an appointment on Sept 9th. Alicia will start off seeing the director (the neurologist) and she is also going to be seeing a gastroenterologist. They asked me what other specialists we wanted to see that day but I figured two was more than enough to start off with!!
I am looking very forward to being able to ask my questions that I have had for years to a team of specialists that deal with Rett Syndrome. This disease is like no other. Rett syndrome causes problems in brain function that are responsible for cognitive, sensory, emotional, motor and autonomic function. These can include learning, speech, sensory sensations, mood, movement, breathing, cardiac function, and even chewing, swallowing, and digestion. The list of health concerns that these little ones can have seems endless. This is why we knew it was so very important to have Alicia under the care of a team of Rett specialists.
I am also hoping that she can possibly be tested to find out her actual deletion or mutation (when diagnosed with Rett Syndrome, usually it is shown that the MECP2 gene has a mutation, however there are more than 200 different mutations that could be found on that gene). Believe it or not, just having that test come back positive for that mutation does not prove that a child has Rett Syndrome. The MECP2 gene mutation also shows up in very well-known disorders such as autism, mental retardation, learning disorders, schizophrenia and bipolar disorder.
Alicia has been diagnosed with several things since we knew something was wrong before she turned 1 year old. At first she was diagnosed as severely global developmentally delayed, then autistic and then with Rett Syndrome. Rett Syndrome is often misdiagnosed as autism, cerebral palsy or non-specific developmental delays. In order to be diagnosed with Rett Syndrome, not only does the child have to show the gene mutation but also fulfillment of the diagnostic criteria (a clinical diagnosis, based on signs and symptoms that you can observe), which obviously Alicia has. I would like to know for my own knowledge exactly what is Alicia's deletion/mutation but insurance may not cover that extensive genetic testing and it can get into the thousands in terms of cost.
So as of right now, I am reading The Rett Syndrome Handbook. It is an amazing book that has anything and everything about Rett Syndrome. I am writing my questions down that I want to ask the team. We are about to embark on a whole new journey yet again.
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