This weekend we took Annie to New York to visit The Montefiore Rett Clinic. We have hit some roadblocks in Annie's care here in Michigan, namely her GI and sleep issues, and had talked to a few families here that made the trip out to New York and were thrilled with the care they received. We hesitated at first - lets be honest, New York is not the cheapest place to visit and we are not the wealthiest of people so spending the money to fly, stay and pay for medical expenses was not something that we took lightly, however, after talking with Dr. Djukic, the head of the clinic, I told Scott that this was the place that Annie had to be. He agreed and plans were set to go.
Leading up to the visit I gathered Annie's medical chart, school information - IEP's, and all of her therapy reports. Dr. Djukic ordered tests - blood and urine - that we did at home and had the results sent so that we could discuss while we were in the clinic. We had a lot of correspondence prior to our visit and I have to say that I have never met another doctor more compassionate about our little Annie than Dr. Djukic. I was so thrilled to be going out there to meet her in person.
We landed Thursday evening and headed to the hospital on Friday morning. We checked in and sat down, waiting for a nurse to call us in to see the doctor (Special needs families you know, the typical drill - you sit for an hour, the nurse calls you into a room, gets the vitals then you sit for an hour and see a resident, then you sit for an hour and get 3 1/2 minutes with the doc - am I right?) but instead what we saw was Dr. Djukic racing into the waiting room arms wide open, she gave us a hug and then knelt down to say Hi to Annie - waiting patiently for her to respond with a smile. Then she looked up at us and said "what are you doing? OUR girls don't wait" and took us straight back into the GI's office for an appointment with our first doc of the day.
We voiced our concerns to the GI specialist and he explained to us different scenarios of what may be causing our little Annie's pain. Thankfully our great GI doc at home is willing to collaborate with our Montefiore docs so no tests were run in New York but what we do have is a plan of action to get to the bottom of Annie's pain and improve her quality of life. I'm anxiously waiting to get the final report so we can started!
Next we had Annie spend some time on the eye gaze computers. Dr. Djukic is very passionate about our girls communicating (as are Scott and I!). She believes in our girls and knows that they are very smart little ladies that are quite literally trapped inside their bodies - desperately trying to do even the simplest of things but roadblocked by apraxia that consumes their whole body. This is exactly the way we feel about our Annie, but to hear a Specialist, not just a specialist but a neurologist who studies how the brain works, to have someone in a position like THAT confirm the intelligence of Annie is something very special. She went on to explain to us a little bit about the latest research that is going on in Rett Syndrome adding that her belief is that in 3 to 5 years we will have a treatment and in her lifetime she is certain she will see Rett Syndrome be cured! I believe with my whole heart that I will see Annie cured as well, but as her mom sometimes I feel consumed by that fact. I believe it but I start to wonder if my brain is believing to save my heart from being crushed by a life sentence of Rett. There is something very real when you hear a specialist of that caliber make such claims - chills ran through my body as I tried not to cry in happiness! We spent some time talking about Annie's current therapies and school and how it's imperative to keep Annie moving, learning and healthy because when her cure comes we want HER to be ready for it and have all the tools in place for a complete recovery.
Here's where I get a little cloudy, a little emotional and a little anxious. I mean, can you imagine? Here is a 5 year old girl who is completely dependent on others for every single aspect of her life. Here is a girl who is unable to walk, talk, crawl, feed herself, color, flip through a book. She can't tell me when she's hungry, tired, or when she has to go to the bathroom. She is in constant pain but can't explain where it hurts. She is at the mercy of the person who is caring for her, she doesn't have a say in anything! And all of a sudden one day there is going to be some drug that may reverse everything and bring her back to a "typical" 5 year old? WOW, I just can't seem to wrap my head around it. I mean it seems great but also a little unnerving. Am I right or crazy?
There has been so much emotion surrounding rett syndrome since our Annie's diagnosis - rightfully so. I remember when Annie was first diagnosed, there were stages of grief that we, as a family, went through (and may still be going through) and lots of questions and emotions that we had. We also saw our extended family and our friends go through their own type of grief and pain for our Annie. There were questions about God "How could a good God do something like THIS to a BABY girl"? - As questions go, this is a good one! One that is very hard to answer. I am reading a book right now called "The Reason for God - Belief in an Age of Skepticism" by Timothy Keller (a good, but slow read for me, it is very philosophical - I highly recommend it if you're into that kind of read). As I was reading on the plane I read the chapter "how could a Good God allow suffering?". What a perfect time for this "chapter" of our life. So I read, and the book discusses how there is so much Good that comes out of our suffering and how many people feel like they would not be in the place they are today had they not have "walked through the fire". No doubt if you have read this blog before you know our take on that, right? - I can go on and on about how Rett Syndrome has changed us for the better. Anyway, the book goes on to question how we could ever feel profound joy if we have not felt profound suffering. Oooo, good point! Think about it. Imagine you have had everything handed to you, that you have never felt the anxiety of not being able to pay a bill, or the hopelessness of a loved one with a terminal disease, or the sting of a divorce or any of the other millions of things we ALL suffer with, think about it, if you never, ever suffered, would you ever be able to feel REAL joy? If you are honest with yourself, the answer is "no" - there is no joy without suffering. So a God who "allows' suffering, maybe, just maybe, He is doing that so His children will feel more intense joy than they would have, had they not suffered - ya think? Soooo, we return full circle to Annie and her cure, and I think about her walking - most parents at a childs first steps may video tape and clap. Me, with Annie's first steps, I can assure you, I will be on my knees and crying in happiness. Most parents, at a childs first words, may video tape again and write in their scrap book. Me, at Annie's first words - you will again, find me on my knees and weeping over the miracle of my daughter. You see the intense joy that will be from the suffering. I imagine God saying "my child walk with me through this fire and I will show you joy unspeakable" and that, my friends, is exactly what we intend to do. Maybe not gracefully, maybe with doubts and anger and frustration but we ARE walking through this fire and are confident that the God who "allowed" this suffering is the same God who will show us the joy that is to come from it! ( I know you're probably thinking "lay of the philosophical books"! and I can assure you I will as soon as I get through this one :)
OK, so, obviously this should have been 2 posts, but where was I in the Montefiore visit? Oh yah, so Dr. Djukic gave explained to us a few things that were a little disheartening but none to the less information that we need to know about our Annie. The first is that her breath holding is a concern. We thought that breath holding was simply that, Annie was holding her breath, unfortunately its actually due to the apraxia that Rett Syndrome brings. Annie is breathing and apraxia sets in actually causes a restriction in the air flow so her breath is held involuntarily, what's worse is that this is painful for Annie. Ouch, that was hard to hear because Annie breath holds all day long. Dr. Djukic also encouraged us to move away from trying to get Annie to use her hands in OT, that all the OT in the world will probably not lead to much restoration in hand use. This is something that Scott and I probably already knew but never really said out loud before, we are always putting Annies communication and physical therapy ahead of her hand use so we weren't too devastated at the news and really, it opens up our OT to work on things that Annie WILL be able to improve on, namely switches and aug comm. devices. Lastly Dr. Djukic gave us some vials to take home to collect Annie, James and Gracie's teeth. When our kids loose their teeth we will send them back and they will extract the stem cells from them and then bank them. Once there is a med that "hits" in the rett knockout mice we can test the med in the stem cells to see if it is safe for Annie. Again, getting us closer to that cure!
After our conversation we went to radiology and met with another blessing, Dr. Andrews. She performed a swallow study on our tired, "fed up - to- here" Annie. Needless to say there was not much "swallowing" going on with our patient but we did see that Annie is silently aspirating with thin liquids. Not a surprise, we see lots of coughing and spitting up with Annies sippy. The silver lining? We only give Annie water (because that's all she wants) and aspirating water is safe. We spoke with Dr. Andrews about Annie's inability to clear her 'palate" and decided on a very unconventional and very uninvasive way to treat that- basically just giving her Italian lemon ice with her meals - that's easy!
We also met briefly with an endocrinologist because during the blood test prior to our trip we found out that Annie has hypoparathyroidism. The endo told us that because Annie is currently taking calcium supplements her calcium levels are within normal limits so we should just continue with what we're doing.
In the end the trip was a success and we are very happy with the information and help we received. It is so encouraging to know that we are being supported in every area of Annie's life. To know that we are not alone and we don't have to battle everything ourselves lifts the weight that has been on our shoulders for so long.
I didn't take too many pics, I was a bit distracted, but here is a cute one of Annie enjoying being an "only child" for the weekend.