A nation turns its lonely eyes to you!
So have you missed me? I was kind of forced to take a break, had a lot of things going on in my life. Most consuming was the transition at work from one Board Chairman to another. Because the previous Board Chairman had been the only Chairman, he held all the cards, he held absolute power and the board and staff never saw each other much (in fact I only got to meet some of our Board Members for the first time at his funeral). The following weeks, we have essentially had to re-build a plan for the Museum, oh and plan for our major fund-raising Golf Tournament as well. I’m happy to report both are going well.
On the home front my oldest daughter Sophia is busy with both Karate and Softball as well as finishing up 1st Grade. She has also been, rather difficult lately both at home and at school, we assume because she is having trouble (perhaps more trouble than we thought) in dealing with her sister.
As for little Lillian, she continues to make progress. Her newest milestone is that she has now on several occasions pulled her self into a standing position at the couch. However she is still very far behind and is now 2 1/2 years old. She still doesn’t talk, but she seems to get stronger. Therapies continue with 3 special, 2 physical, 1 occupational and 2 speech therapies a week, all done in home. However the program ends at age 3 and then she must either a) be cured or b) have a diagnosis or c) show at least a 33% delay. At this time she is showing closer to a 70% delay and unfourtunately the gap is growing not shrinking.
Her most important doctor visit happend on May 27, when she visited Dr. Darius Adams, the genetic specialist and professor at Albany Medical center and college. Although we spent only a few moments with Dr. Adams, we did spend over an hour with a genetics councilor who asked about a billion questions. Well before this visit we had to supply Dr. Adams with Lillian’s complete medical history (which I swear needed a forklift to deliver) and he seemed well informed about her when he did come in to talk to us. After a quick examination, he gave us a script for more blood work and identified 3 possibilities as to her condition at this time, based on all the information. One is Angelman’s Syndrome and a rare, but less severe form. She had already passed the initial blood test which accounts for 80% of cases. Rather than having a deletion or duplication, the type they are looking at is where a gene ended up with both parts from the father instead of one from the mother and one from the father. In point of fact its working, just not in harmony with the rest of her DNA. No matter how you slice it, this is not a good diagnosis, although better than some others they have looked at. Lillian fits most of the symptoms for this syndrom with a couple of major exceptions. 1) Lillian has a large head, most AS kids have small heads and 2) she does not have a known seizure disorder, although that typically doesn’t start until after age 3, so we still have some time to worry about that. However her therapists don’t think she has it and that gives us some hope since they work with kids like that all the time and we value their opinions.
Another syndrome they want to rule out is Fragile X Syndrome, which is considered to be the leading cause of Autism, especially in Boys. Girls tend to get it less severe because they have 2 X Chromosones, while boys only have one. Her symptoms do not fit well with the syndrome other than a large head, but it needs to be ruled out.
If the tests for the above come back normal, then they will look at a 3rd option called Hypomelanosis of Ito. No, its not something you get a Japaneese steak house, but another genetic disorder. This I guess can be tested for by doing a skin biopsy, but we will cross that bridge when we get there.
Of course all of this has placed a significant amount of strain on our family. Danika and I most nights, put the kids to bed and do what we can to unwind. Its what keeps us sane! As we have for several months now, we play a lot of Dungeons and Dragons On-line. We stumbled into a guild where most of the people are related to each other and I guess we have been adopted at this point. We have a lot of fun on Thursday nights and in fact many nights. This is just the distraction we need.
With everything going on, its tough to find time to go birding anymore, so I have really pulled back. Corey from 10,000 Birds and I did do a Century Run back in May (check out Corey’s account here for the details). And over memoral day weekend, Danika and I toured the back roads of Albany County, New York in search of Whip-poor-wills. I am happy to report we heard one in the ‘normal’ location, but discovered another 2 on a different road. A good sign for a species in trouble. Danika and I will also be heading over to Columbia County in search of Whip-poor-wills in June to do a survey over there.
I’ll get back to blogging on a regular basis, but with being trapped inside a lot, I’ll have to exapnd what I blog about again, but trust me, It will be interesting.