We finally got confirmation on an appointment in Chicago. Oct. 30th is our date. It should just be an initial consultation appointment, but I will certainly call again to verify. I just got so excited, I forgot to ask!

So, another week and still no direct confirmation of progress. I do know that Makenna's application has made it as far as the desk of the chief of staff at Shriner's in Chicago. I did get packets together last week, but did not get them mailed out. I have made it my goal to do that this week.
I spoke with a researcher at Children's Hospital in Boston. Makenna will most likely take part in a couple of research studies. It doesn't mean a whole lot for her treatment at this point, and will actually involve her very little. It's really just about supplying a blood sample and they learn whatever they can from it. The research is conducted by the Engle Laboratory at Children's Hospital.  The website can be found on the links page. They study all types of congenital cranial dysinnervation disorders (CCDD's) - HGPPS falls into this category. Dr. Elizabeth Engle is a pediatric neurologist and genetics researcher. She partners with Dr. David Hunter, the chief of ophthalmology at Chilren's Boston.
A number of different eye disorders are covered in researching CCDD's, so the pairing is ideal. I am quite sure we will be making a trip to Boston at some point; just for the shear expertise.

I still have not heard back from Chicago. I did call again today. I did not speak to anyone, but did leave voicemail messages. I have not heard back yet. I know I am carefully walking the fine line between being the squeaky wheel and being the wheel that just needs replaced! It's hard for me because I am a rule follower, and in this case I just don't feel like that's getting the job done. I feel as though my hands are tied. I have done everything I can with Chicago - there is nothing more for me to do but wait. And I am not particular good at that! So, I was going to put together packets today including a letter, some pictures, copies of the MRI's and x-rays. My plan was to send them to 3 other hospitals. If any of them acted quicker than Chicago, I would jump on it. I hit a minor gliche when I wondered if it would speed things up to include an application for treatment.
Are all the Shriners Hospitals networked? Would an application submitted to one hospital appear in the system at another? I certainly didn't want to clog the system and have her in record several times over. In an effort, to "do the right thing", I called the main number for the Shriners Hospitals. The lady on the other end of the phone told me that I submitted the application to Chicago, the case needed to stay in Chicago until it was addressed. So, I felt semi-defeated all day. Until some friends helped me realize that I should just submit the letter and the records without the application. So I will do that tomorrow.

I finally got a hold of someone in Chicago and they "found" her application! They actually had it in hand, so I suppose that is good news. She said she would enter it in to the compuet 'next'...not sure what that means. Next - today...next - tomorrow... next week? We'll see. From where it's at, it needs to be entered into the system and then delivered to the chief of staff (the same DR who does the casting) for approval and then we will be notified. In general, we are probably looking at at least hearing something by the middle of next week.
I spoke with another Mom tonight. Her son is in the process of being confirmed with a diagnosis of HGPPS. The stories sound so similar, with a resounding underlying frustration of basically having to self-diagnosed our kids. In hindsight, it looks as if someone should have diagnosed these kids sooner - but things are always much clearer in hindsight. I try to stay focused on the fact that at least we have the diagnosis and can move forward from here. It doesn't do much good to play the "what if" game at this point. We also are very lucky that Makenna's curve is so small. I am very thankful for that and realize that most kids do not get diagnosed until the curve is much bigger; so we have an advantage in her starting point.