News about The Club

Sheri, Makenna and I went to North Platte to get blood draws for: AnEUploidy: to study the influence of gene number in relation to the development of diseases. We got to meet with Dr. Schaefer, our geneticist, or former geneticist. He has accepted a position at a medical university in another state. Our meeting went very well. He was able to better explain the research Dr. Brunner is conducting. And expanded on a question I emailed him to him 1.5 months ago. Yes, they are preparing a report, on Makenna, for the American Journal of Medical Genetics. In his reply 1.5 months ago he said Dr. Olney was about finished collecting information on, "The East Coast" child and they were waiting for more information from Dr. Pierpont. I didn't know what that meant then. I learned today they are trying to include an update on the two boys that Dr. Pierpont first wrote about. They would be young men, about 21 and 14 years old now. One in Minnesota and the younger one in Northern Ireland. I know I would be excited to read the update, I hope that can happen! And I learned the 4th case known to me, the "East Coast" child is a girl!!! And she will be presented in this AJGM document! We (I) hated being the first or only "girl" patient in what could have been an all boys club (PS). But I quit worrying about that when I met Adamadamum last month! While her daughter is not yet diagnosed I felt a very strong connection to her story.

I expected a medical journal report on just one case (Makenna) to be published already. But if they can draw all this information together and present information on four cases I will wait.
There was a time when I really believed I needed Makenna's AJGM report to be published before I would really get access to the medical contacts I was seeking. That has turned out to be NOT TRUE. The best contacts I have had are parents!

A parent like A.T. in The Netherlands. What she learned through our private emails, convinced her Makenna belonged in "the club" and she was an unknown help (by "unknown" I mean immeasurable) in convincing Dr. Hordijk to contact Dr. Brunner about our case. I can't say enough about what my contact with her has meant. And she knows more about PS than any of us.


Sidetrack message to A.T. Here is a quote from Dr. Brunner about the twins you have known about for a long while and told me about:

I myself have seen twin brothers who I believe have the syndrome.
They share some characteristic facial features, and severe feeding problems necessitating tube feeding, and ultimately a gastrostomy. Both are mildly retarded, and they have short stature. They have increased fat on the dorsum of their feet and hands, but not the lateral fat pads that would be completely diagnostic.

But I am sure you know that already! So how can we make the Clinical diagnosis better? While we anxiously await (for years) Dr. Brunner's work to determine a genetic test?

A parent like Matt Whall who is willing to share information, and be a contact for other parents. Visit Matt's blog at whall.weebly.com. Not JUST because he said a some nice things about me (but that is an acknowledgement I feel very honored to receive). But because he has a GREAT site!! And he would be happy to hear from people with questions about PS, too. He is trying to help, "connect the dots around the world" as he said. And that is what we all want. He will be a contributor/place holder on the PierpontSyndrome.com site.

A parent like Daniëlle. She has a wonderful website about her family and her beautiful daughter Puk, it is private and I will not disclose that link. But she has asked permission to share Makenna's story on that site. As I said before, Daan is a very good advocate for Puk. Puk is still undiagnosed. And is Not a PS child. But I suspect Daan has contacts with doctors and families in countries I am too ignorant to even know existed. One of them may be the contact that we all need?

A parent like "littleoldme" (Sally), who is camera shy, but also agrees a website would be very helpful for PS families. I am very pleased with her contact. And now the website becomes more important to me to give her a venue to share her knowledge. Obviously one of the most important goals of the website, for all of us, would be a "moderated forum".

In case you couldn't tell, I am excited again! The blood draw, to Omaha, to DNA extraction, to Holland went really well. It took a couple of emails and phone calls to find out when MMI was doing an "out West" visit again...But it really fell into place....That should probably be cause for concern at this point in my world! Just keep reading my drivel. Clyde