Ch-Ch-Ch-Changes!

Lots of changes for PP in the last month! First of all, the gene that marks Weavers Syndrome was discovered by scientists at the University of British Columbia! It's a gene that affects an enzyme, and that's about as far as I understand it. It's kind of complicated! The detailed report I got from PP's doctor is very extensive and is full of jargon that I could spend hours on Google trying to dissect. If you'd like to read more about it, here's an article that is easy to understand:

Weavers Syndrome

It's a really exciting time because before PP just a handful of children have been tested for it. Yeah, she's writing medical history, just another day in the life. We met with our Genetecist a couple weeks ago and at that visit they took blood to be sent to British Columbia, and I got a call saying that the scientists over there were VERY excited to see what PP has in store for them! The testing takes a long time, about 6 months, so we won't know the results for a while. 

PP visited Developmental Pediatrics yesterday! It was a 4 hour appointment, which is the longest appointment we have ever had. The doctor, McLellan, was very happy to have met PP. He has seen patients with Sotos Syndrome before, which is often associated with Weavers. Oddly enough, he said that he had never heard of Weavers before he met PP and he was very interested in the outcome of all the test results. He  mentioned the possibility of the test coming back negative, and I told him I have that sitting on the backburner in my head on a daily basis. It would be just our luck to have it come back negative! However, he seemed excited about that possibility. It's weird, I know, but if it came back negative that would mean PP has a gene that hasn't been tested for Weavers. McLellan was excited for this opportunity because he would be a part of the research in gaining even more knowledge about this incredibly rare syndrome. The Genetecist talked with me about the probability of PP's diagnosis and she is almost 100% positive that PP has Weavers because of all the other identifying factors, so if it came back negative we would just have to go back to square one and try to find a different gene marker.

The biggest change for us right now is the addition of therapy through Childrens Hospital. PP will see a Speech Therapist and an Occupational Therapist separately once a week, on top of the services she receives through the school system. We will have to go to the hospital to do her therapies, so it is a good thing I am not working anymore because if I did I would never have time to take a breath! We will be so busy; therapies 4-5 times a week, school once a week, and my school twice a week (not counting the online hours I have to put in)! Don't forget about Papa Chris, he goes to work every day and we will all have to share the car! It will be interesting to say the least. 

PP can walk up to 20-30 feet independently over a flat surface now! She has brand new orthotics that allow her more flexibility while concentrating on keeping the bones in her ankles straight and supporting her arches. Her ankle bones 'collapse' when they are not supported so it is very important for her to wear braces, but she really likes them! She is still not talking more than saying "mama" and some consonants now and then, but her sign language is improving. She signs "more" for pretty much everything from juice to cell phones. This new skill is definitely useful, but sometimes it poses more problems than it solves because she uses it for EVERYTHING. It can be very difficult to understand her needs when she can only sign "more" and grunt or scream. 

School is going good for me. Biology is a welcomed challenge, and I am thoroughly enjoying my Archaeology and American Literature classes! I quit my job because I knew that the Developmental Pediatrics appointment would give us more therapy per week. I didn't have enough time to do school work and all of the millions of other things I have to do on a daily basis while I was working, and now that I'm not I seem to be even more busy! Quitting was a sacrifice, but I think quitting was the right decision for the sake of PP. In the long run she will be so much better off because I give her all my time now. What may be good for other families is rarely well suited for us, so the fact that we need to take a very different path in our lives needs to be embraced. We really don't have any other choice but to do so if we have PP's best interests at heart. I am excited about all these changes. I am willingly forced to see things from a completely different perspective and am able to learn what it means to live a truly happy and whole life. It's all because of one person; Penelope is my hero!

Well, it's just about time to have our weekly visit from our Physical Therapist and Teacher! 

Sunshine and lollipops!

XoX