How can we make the Clinical diagnosis better?

Matt says, " Williams foot pads don't look like they used to, they have split." There are twins in the Netherland's not getting a diagnosis because of no (minimal) pads? I actually went and looked at Makenna's feet tonight. Her feet do not look the same as they did in July, 2007, when the photos were taken for the AJMG article. There was a perhaps a brief window of opportunity that allowed us a diagnosis?

I do realize the importance of this unusual trait! But I wonder if there is a "window" for the medical professionals have to confirm this anomolie? Is it age related? Is it related to the BMI (body mass index) which I and most nurses can't figure out and plot. Don't get me wrong they are still there. And I think they are sensitive on 'Kenna. She doesn't like you messing with her feet and she really hates shoes... and even socks for that matter? But we have had a long two months of poor feeding. She has lost over 1 lb, and yet grown about 1 inch. And her feet look skinner too.

Do we only have kids that are labeled failure to thrive then pushed to the limit on feeding and then the planter lipomatosis becomes apparent? That probably is not it because Sheri was actually talking about those fatty places on 'Kenna's feet in the first month or two. Long before Makenna was getting adequate nutrition. The pads, on Makenna, are still there and intact but unless you were looking you would not notice them as too unusual today. This is especially true for Makenna because her "middle toe" on each foot is overlapped by another toe: Just like the boy from Ireland!! So all doctors, even geneticists, kinda get hung up on that anomaly. Just, as our orthopedist said, "Well, she will never be a sandal model". It was funnier at the time because I didn't realize how important feet could be to a clinical diagnosis". But his comment was funny then and it still is now to me, but not to Mom.

The point is what should the professional really look at? That is my new argument. Minimal planter lipomatosis? Signs of plantar lipomatosis? Or does it have to be as large as a robin's egg? Or as big as a bantam egg? I realize there may be 20 new syndromes coming out this year which I know nothing about and one may be very similar to Pierpont. So how specific must a trait be to be a trait to define that then? Pierpont is very similar to other syndromes except for the foot pad, being unique. And all the others that are close really didn't fit for us on more than one point. So we need to get off the foot pad a little and say: "there is a 'face' to Pierpont as well!" That and 10 other issues may qualify you, not just ugly feet ... nor little carpenter hands, ya think?

I know there is a face to Pierpont! When I look at the pictures of kids in our club my heart melts. I don't care if it was a boy in Minnesota, or Northern Ireland from 10 years ago or Catherine who is not yet labeled I say, "Makenna belongs in that club". The boy in The Netherland's has the look. I have stared at his photos for hours comparing similarities, he is adorable! The couple of photos of I have seen of William make me want to give him a great big hug. (I kinda miss the one where he was wearing the winter suit and hat.)
I am happy Prof. Brunner is working on a DNA solution! I assume it is years away from being conclusive, as all such matters usually are. But I am very pleased, indeed. And even then there will be kids without a genetic diagnosis but a real strong clinical diagnosis. Where do they go? Back in the "undiagnosed category"? Again, my college degree just says, "I don't paint". And I really want to avoid diagnosing! But my hobby says, "your kid looks pretty similar to my kid, wanna tell me more of your story?"