In the meantime, Makenna is getting along just fine in the brace. She has become quite use to it, and doesn't even question when we put it on. She has adapted beautifullly. I know it will be a different story with a cast, but I think having the experience with the brace will definately help.
We have enrolled Makenna in a research study through Children's Hospital in Boston. It is a study focused on eye disorders, but will be able to provide us with genetic testing results. There is no clinical genetic test available for HGPPS in the United States. The only test is available on a research basis. It gets somewhat tricky to get the results. Any results of testing that is done on a research basis cannot be shared. We can have the results 'confirmed' in a approved lab. So, although the initial testing will probably be done soon, we will have to wait for the confirmatory results which will take quite a bit longer. But we will get the results, and that is the goal.
The continued theme of our saga seems to be patience. At every turn, there is more waiting. I have always known that patience is a virtue, but I had no idea how much I would really need it. I think we've all been conditioned in today's fast paced world, that we can get any results we want instantly - or at least quickly. We are instantly connected with almost everyone we have contact with; through cell phones, e-mail, facebook, etc. And we expect instant responses. If I have a question, I can do a google search on my phone and have an answer in seconds,
so to wait 5 weeks for an appointment and months for test results is torture! I keep my sanity by reminding myself of what we do have and have been blessed with and the Serenity Prayer doesn't hurt either!!!
God grant me the serenity
to accept the things I cannot change;
the courage to change the things that I can;
and the wisdom to know the difference.