The meeting...

Well, we had the meeting with Dr. Manchester and I have to say, I feeling surprisingly great. I would describe myself as a “doer”. If something comes my way, I do it- and most often, do it well. I do not like feeling when I do not give 100%. This situation with Lucyann is no different. For a time, I was overwhelmed, saddened, and generally exhausted with the thought of having a mentally and physically handicapped child. Now though, I am ready to take on whatever obstacles are ahead with enthusiasm and a positive attitude.
One of the great things that Dr. Manchester told us was how no matter what your genotype (your genetic make-up), your abilities are based on 30% genetics and 70% environment. He has been doing this for a long time and told us that most of his research throughout his career has not been on genes, but on environment. Hearing this, I felt a variety of feelings: relief, power, fear, but overall, excitement. He mentioned several times that we should not set limitations on Lucyann. Although she does suffer from this rare genetic disorder, it does not mean that she will only be capable of certain things. No two children with Angelman’s syndrome are the same. I went away from the meeting knowing that if Jason, myself, and our family give Lucyann opportunities to grow and experience new and different things, the possibilities are endless for her growth and development.
Dr. Manchester mentioned several times (with great awe) the new forms of technology (specifically iPad’s) which are available for children with special needs. He was absolutely astounded with the new inventions in technology specifically for children with special needs. He even told us that with the assistance of technology, Lucyann might be able to communicate with us. I promptly went home and started an internet research for iPad’s for special needs children and found dozens of applications for special needs children. I certainly need to invest in one!
We were encouraged to attend the biannual conference for the Angelman foundation happening this summer in Salt Lake City. Dr. Manchester told us what a great resource this would be for several reasons:
First, we would meet other families who have a child with Angelman’s. By connecting with other families, we would have a network of people with whom we could get advice, share our stories, and get support from.
Secondly, we would learn the latest research about Angelman’s. Dr. Manchester even told us that the possibilities are endless for the treatment of Angelman’s. Although this is an incurable genetic disorder, new studies are happening with drug therapy. In some syndromes, researchers are looking at the possibility of using medications to fill in the gaps for genetic syndromes. In other words, Lucyann is missing ½ a chromosome and it may be a possibility that a medication would actually fill in the space of the missing ½ chromosome. Although this is promising research, I don’t think this is something we will count on.
Finally, we could learn about several different kinds of therapy we could get Lucy involved with. We discussed at length the option of hippo therapy (horses NOT hippos). My mom and dad encouraged this knowing that in Montrose, there is a nationally renowned hippo therapy center. Also, with my background in music, I am looking forward to the session at the conference about music therapy. This is one thing that Lucy shows great enthusiasm for.
I know, more than ever, that having Lucyann in our lives will be the greatest blessing. In fact, last night, as Jason and I were putting the girls to sleep, I turned to Janna and said “isn’t Lucy special?” she looked at me and said “mom, she is our special present. I love her.” What a wonderful gift we have been given. Through her presence in our lives, we will get to experience things we would have never imagined we would. My goal is to participate in a variety of activities for my family that will encourage Lucyann’s full potential. If I do not go on with my life under the assumption that we will be held back by Lucyann’s syndrome and put effort into her development, I believe the sky is the limit.