Allison participates in the Rett Syndrome Natural History Study. The study is designed to follow the progress of girls with RS to document how the genetics affect symptoms, progress, and development. The hope also is to lay the foundation for clinical trials of future treatments. We meet with the research team every six months and this time it was in Tampa.
Saturday morning we loaded up the car at 6:45 to begin the long drive over to Tampa. It was dark and about 30 degrees and raining when we left the house which was not fun at all. Despite missing our exit on the interstate two times we were able to get there in time for our first appointment.
Allison's geneticist is from South Carolina and he is one of the principal investigators of the study. We met with him and his nurse first. They ask us a billion questions about her and interact with her, watching her responses. They perform a neurological exam on her, and then they measure her hands, feet, head, and do a basic physical exam. We then have the opportunity to ask about any questions that we have. We usually ask them about their research and if they have any updates on developing treatments, etc. I am always super tempted to ask them how they think she is doing or if they think she will continue to progress, etc. The hard part here is that they can never really answer us and have to be vague because the truth is that there is no predicting how Allison will grow and develop over the next few years. She is doing great now and making progress but that could change over night.
Her second appointment was with the dietitian and measurement people. The dietitian usually asks us about her eating habits and what foods/drinks she prefers. The measurement lady literally measures every part of her- almost all bone lengths, width of her arms, legs, and does skin fold measurements. She weighed in at 39.2 lbs and is 42.5 inches tall. When they plotted this on the growth curve it had her at the 50th percentile for height and weight compared to normal 4 year olds. This is fantastic news! Girls with RS are prone to growth failure and they drop off the growth curve starting around 3-4 years of age. In fact we have met many girls with RS who appear to be like 7 or 8 years old but are in fact in their early teen years. Allison's growth is a great sign that she will continue to keep her physical skills in place which in turn mean that her GI and orthopedic issues will also be minimized.
Allison's last appointment of the day was with a communication device specialist. We often say the the biggest disability Allison has is her inability to speak or communicate meaningfully. The device we looked at uses eye gaze to run an elaborate communication board. Girls with RS often don't have the motor skills to sign or type so eye gaze is how most eventually learn to communicate meaningfully. Allison wouldn't sit still long enough to try it out (she was exhausted after the first two appointments) but I used it. It was super cool! I could run the machine using just my eyes. Lingering on certain parts of the screen allowed other menus to open and I could have done all sorts of applications that ranged from extremely basic to very sophisticated. Right now, honestly, Allison is no where near being ready to use a device like this. She does not have the patience or the need. She gets what she wants just by vocalizing or banging on things. What the appointment did do, however, was allow us to see the variety of communication options that will be out there for her when she is older and ready or interested to use them.
The clinic provides lunch for the families and we spent the last part of our day eating and socializing. There were probably 30+ other families there with girls ranging from 2 to the mid 30's. It is often overwhelming for us to see the broad spectrum of symptoms the girls exhibit, most generally much more severe than Allison. I always feel a strange sense of calm and understanding when I am around other RS families. I could just be with them all day absorbing information, advice, and sharing stories. Despite the day being somewhat emotional, I left with a unique sense of hope and excitement about the future. This is a huge improvement over the past, where I have left fearful and afraid of what is to come for Allison. She continues to amaze me with her spirit and progress.