More Good News

Our family is growing. Thanks to a visit from Sally! And you will have to read the comments to know what I mean. So when I get a comment from someone like, Matt or Daan or Sally they mean so very much because no comment has ended with the word "idiot", yet! Yea Me!
I do want to thank Daan or D.V. for being the first parent with support and good information when I started my search. Her daughter is yet undiagnosed and no, PS is not even in the picture. I started my search for doctors listed on the two AJMG articles. But the information I first learned, from her, was, "If I had any questions for Raoul C.M. Hennekam she would ask them for me in person! At her daughters next appointment with him in a few weeks." I just wish I had a question. I still don't know how he fits in this picture. He was head of the genetics department at Groningen , but I don't know what part he played in PS or the article? I write that because I still kick myself for not having D.V. ask Dr. Hennekam, "is there anything new or enlightening, you could tell me about PS? He has since transferred to London, England. He still keeps some of the more "interesting cases" he has seen, in the Netherlands, as a geneticist, so I may get that chance again? (Boy, I hope Daan reads this and corrects me if I am wrong. Look for new comments from her!) But I was so tickled: I found some one who knows someone...but then I blew it. Just as well. Daan and her daughter need Prof. Hennekam's time more than I do. And as it turned out Dr. R. Hordijk answered my email and has been most helpful to me. He has been a wealth of information. He has introduce Prof. Brunner's work. He made the contact with the mom in The Netherlands who was willing to accept my emails and who will be known here, for now, as "A.T." And I am jealous that A.T. can actually phone Dr. Hordijk up and talk with him.
That happened in a time frame that made me not email D.V. for a long while, and forget any questions I might have had for Dr. Hennekam because I was emailing A.T.!
I needed to explain that for about three reasons:
1. A.T. I am not emailing as frequently as I should because I spend too much time on this site, I suppose? But your letters to me and good advice, information and knowledge about PS have meant more to me than I can express! And I will keep emailing, I owe you a letter now.
2. D.V. you are an inspiration for me and others I am sure! Your energy in your search for a diagnosis and all the kind support you offer others may be a bad role model for me (hard to meet). But I am trying to model it because it meant so much to me learning about your family and getting your emails!
3. Dr. Hennekam is now in London! Sally or Matt? If you think it could help (y)our cause he is in your country now. But don't panic about this new idea. Dr. Pierpont is still in my country and I am still waiting for contact with her.
Dr. Schaefer, our geneticists, offered us the opportunity to ask her any questions we had, back in July when he called her to talk about Makenna's case. Again my best attempt at questions then was, "duh, uh...what, ooh, I guess I don't have a good question." Sheri had some. Which is how we learned the parents in Minnesota don't want any contact and there is another case on the East coast of the US. I thought they were dumb questions at the time: "what can you tell us about the Minnesota boy? and, "what else can you tell us?" She got results! I really think my best bet with Dr. Pierpont is with her is snail mail and I haven't tried that yet, because I still can't think of an intelligent question. Now, I realize the best question is a simple one. Of course, a five or six word answer to a simple question is never very satisfying but it is better than nothing.
So relax, Clyde, (I try and tell myself often). This is not a sprint! This is a long distance race of unknown mileage. But I fear the miles.
D.V., I will post a recent photo of myself that shows I am aging 3.5 times faster than parents of non-disabled kids or than the general population. I know that theory of mine is true! "Ken and Barbie" don't become "Ozzy and Sharon (Osbourne)" overnight. But it should take longer than 5 years. Don't ya think? And I will explain that to everyone else later.
Clyde