New Friends

Hello to all from Sophie & Lily,

Many thanks to the Friedman family for inviting Sophie and me over to their home for a visit. They are great people and we are blessed to have met them. Sophie had a good time and made herself right at home. She scoped out the place as soon as her feet hit the ground. I saw a lot of similarities in Lily that Sophie had at her age. Oh yeah, Happy Birthday Lily. You can see in the photos that they had a good time playing. The one picture looks like each girl is really focused on their toy, such fun!! I wish I had known what I know now when Sophie was Lily's age. Maybe it would have made a difference in her now. Cant go back...only forward. It was really nice to be able to see another child with the same issues as my daughter. Also, I hope it was encouraging for Julie and her family seeing the progress Sophie has made. Lily is doing a little more than Sophie was at that age, but for the most part they are on the same path. Julie, I hope you remember the signs that I taught you today, there will be a quiz the next time I see you. LOL. Thanks again, Kim

Our visit with Dr. Escobar May 4, 2009

Our dr.s appointment went relatively well, considering the amount of information that we received on Sophie. This photo is how we all felt after 2 hours with the genetic counselor and Dr. Escobar. We were told of all the issues Sophie may face in the future. He was pleased with the fact that Sophie is walking independently and can get her point across by signing or by just going to get what she wants on her own. Right now, he is more concerned with her diagnosis of Chiari 1 malformation than with the 1p36. We have to take Sophie to a neurosurgeon within the month. We dont know a lot about this condition and it seems like we wont until we speak with the neurosurgeon. Dr. Escobar gave the analogy that her brain sits on a floor and the floor has a small hole which her brain is protruding through. This seems a little daunting to me. Im worried for her. Usually you see a neurologist before seeing a neurosurgeon. If anyone else has this issue, I would value and appreciate any information you would be willing to share. He said usually chiari 1 doesnt show up until late childhood or early adult. She is 7. Bless her little heart. On a brighter note, I read about how Nate and Melanie were able to get a Deaf mentor out in Utah. I have friends at the Indiana School for the Deaf and decided to see if Indiana had something like this. Apparently they are trying to get it started. They were just as excited to hear from us as I was to talk to them. I have been given the name of the lady in charge who is trying to bungle her way through funding, schools, etc. to get the mentoring program started. Yeah...thanks to Nate and Melanie for posting to get me started on a project to help Sophie and others like her. This blogging is great for "borrowing" ideas from others to see what is available in our area. I also called and spoke with Jill who works with Lisa Shaffer to see about the research they are doing on children with 1p36. I am enrolling Sophie in this study. So much to do and so little time to get it all done. Thanks to all who have offered their support to my family. Ive already had the chance to speak with a few of you who are on this blogspot. I cannot verbalize just how thankful I am to you. Julie...I am very excited about meeting up with you and your beautiful little Lily. kim