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?"

Things That Matter

Sheri and I have hopes for Makenna that seem more realistic now. We are wary because we have been burned before. But we each hang on to threads that we often never share, even with each other. I have permission to share a news article about a girl in England who "just started talking". Catherine is still undiagnosed. But Pierpont Syndrome is now being considered. Isabel (mom) is part of our Pierpont family. Isabel has shared a lot of Catherine's medical history with me. Catherine is family! I guess when I read this my belief Makenna could some day talk went thru the roof. We are still waiting.... But I accept this as the first hope I have ever accepted on the talking issue. Please read: http://www.manchestereveningnews.co.uk/news/s/1005/1005627_catherine_breaks_her_silence.html And if you didn't like the article that's ok, you just can't relate. My goal was to get some more photos on this website. And the photo of Catherine is wonderful....She is adorable! But her, "look out world" quality is special!! You can guess what mom is going through. And that is how Makenna often looks. I do dread learning all that 'Kenna knows, yet I hope for that.

Other things that matter: Contact with the outside world! The first two friends are still here and the new friends are adding a lot of excitement to the journey.

Daniëlle has given permission for me to include a picture of Puk. I wanted one where she was wearing glasses so she sent me one to include. How can you look at this cutie and not smile? And her mom has been so encouraging, to me, I hope someday, somehow, to repay the favor. Puk's pictures were the first of ANY kid on the web, about Makenna's age, wearing glasses I ever saw. I guess it made me feel better because in the whole State of Nebraska you would have thought Makenna was the only little kid on the planet with them. But I bet Daan handled the stares and outright stupid questions better than I did?

No! Really! 'Kenna and I would be in the waiting room of the "premier"pediatric ophthalmologist in Omaha, and parents of kids her age would be staring! (Maybe not staring but "side ways glancing".) And I would think, "well, what are YOU doing here, then? Just bored and this seemed like a cool place to be seen showing off your kid? Or maybe hoping your kid doesn't catch something from my kid in this waiting room?" Anyway....


Daan also offered me a choice of pictures from her site, so I stole one. A little older Puk, close up. Puk's big beautiful eyes and other kids big eyes, mostly neuro-typical kids, just captivate me!


I wish Makenna would allow a good photo to be taken. You get a camera this close to her and all you see is "eye rubbing" or closed eyes. So she knows what a camera is and she HATES them. I wanted to get some new photos of a cute kid on the blog. So I cheated. I stole some! This blog isn't only about Makenna or Pierpont Syndrome, anyway.... It is about my search for other parents who have kids that are One out of Millions!

Notes:
Thanks Isabel!

Daniëlle, if you don't like my choices let me know, I would be happy to let you choose and I will make those changes here.

Busy, busy...

Long time no news, sorry. I have been rather busy trying to get other stuff done. So this is just a self-serving post to promote a website: WWW.Pierpontsyndrome.com which has an ugly home page still but some useful information on it finally. And all the buttons go somewhere. That may not sound like a big deal to most and it really isn't a big deal anymore but for a while I had built a real mess.
And I want to promote a forum site: http://pierpont.10.forumer.com/ the better way to get there is from the Web site's "Forum" link. All are welcome to visit there and share questions/answers about almost anything it can only get better when used.
But to remind all of another great site, where all of the recent contact has been posted, visit http://whall.weebly.com/ and be sure to read the PS Comments links. The Pierpont family is thriving!
Spring has finally sprung here in Nebraska. The dandelions are out and the tulips are recovering from frost bite over the last two weeks. They are about ready to form blooms. And the grass is greening up. I hate mowing grass as much as I hate shoveling snow so the whole "rebirth" of spring holds now great thrill for me. The robins are building nests and pooping everywhere, but I digress. Clyde

Hi Pierpont Families and guests!
I only have two votes on posting videos. Kristy said she was able to watch the You Tube videos and liked them. Sheri (my wife) said she wasn't able to hear what the kid said on the "long video"? I realize it is poor quality, But (almost) just like that kids dad filmed it from the audience with a handheld camera. "Almost" because I know they edited out a couple names and derogatory words. I would apologize for posting such a long, poor quality video...if I felt bad about doing it. That was the best speech I have ever heard! But if you couldn't hear it I would like to know.

New stuff: Sally! I was supposed to thank you, days ago for visiting Puk's site and leaving a message in the guest book!! Tonight when I read what you wrote there I wanted to post Danielle's thank you here. I appreciate your visits to my site, too. Is there any chance you also speak Dutch? Prof. Hennekam is London. I still thought Prof. Brunner was in the Netherlands? Please share! (I have reason to think Prof. Brunner is in England more than The Netherland's.)

I do know all of our DNA samples made it to Prof. dr. Brunner's lab. It actually got there before all the past medical records I sent. And I still need to request MMI to send all of 'Kenna's genetic records from the University. I have had time or could make time and I have had the "written request for records" form on my desk for weeks.... But I really sometimes go into "lock-up mode". The test Prof. Brunner is conducting has nothing to do with other tests that were performed in the past. Each one of those times we got our hope up. All were negative. And I suppose a big part of me just wants to pretend like they didn't happen? I know they all mattered, and at each moment in time they were all that mattered to me. But I suspect Prof. Brunner already knows what each test was and what it said and didn't say, and can proceed without those reports (for now).

Or maybe a more positive way to spin this for families is: Don't think you aren't already known around the globe! Prof. Brunner knows one of our geneticist's from Omaha, NE. Dr. Ann Olney. So I suspect they are comfortable enough to converse about Makenna, and I hope they do! At length!! I couldn't buy that kind of exposure. And I really don't think Dr. Schaefer would have been willing to be involved without agreeing to the research and perhaps talking with Prof. Brunner in person? I speculate on this because I have "name dropped" enough to realize, that they wouldn't let some dullard, and only a parent at that, in 'out state Nebraska' to drag them and their good names into a medical quagmire. The research must be sound. But a medical quagmire we are in, as parents. That is my goal, parent support. But I want out of this medical quag.

We may all feel like we are on our own tiny island and NO one else knows the GPS coordinates for that island . That is not true! I believe again and more strongly than ever, as parents, we deserve to know what is going on in the medical community! Who the players are, who has taken the lead? OK, now I sound too radical so will close. Oh wait, that is what this blog is about. My thoughts. So what I wrote is NOT too radical for me. Clyde

Soeren Palumbo CNN News To Me Interview

I am attempting somthing new, for me, yes it took a long while to do and don't ask me how I really managed it. (To post a UTube video directly to my site.) I think it would have been a lot easier if I were using FaceBook, eh? If this works I will put the whole speech on my blog. It is a must see.... Ed.Note: it seems to be working but the "loading time" is long. This clip is only 2 + minutes. The next one will 9 + minutes. Start the clip, make some coffee, read the paper and watch it. Clyde

I am tired of shoveling snow! Usually when we get a spring snow storm it can be left alone to melt. This one was deep enough I had to get a shovel out to find the steps. This photo was taken 2:30 pm April 10th, it is the front door to my house. I actually got worried about 11:30am and left work. (22miles north west of town). Which meant I basically drove home in the worst of it. But my little 2 wheel drive pickup with a narrow wheel base barely got me home.

I have permission from Daniëlle to put Puk's website link here. Like she said no one will understand it anyway! So a good friends' site is: http://www.pukveron.kijkonzepeuter.nl/babysite/welkom.php

And I have to include a poster Daan sent me the other day. It really cheered me up! And Sheri really liked it and my mom was here so I had to print a copy for her. Thank you, Daan.

What else? Now that my hands have warmed up I don't want to go shovel more snow. I hate it when my mind draws a blank. Take Care, everyone!

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

Q&A time

I want to share this because some intelligent, regular readers have noticed some of my posts take a long time to show up on the web. (It is not nice to lurk Kristy. You could at least leave a comment that ends with the word "idiot".) It is not blogspots fault. When I have time and I am in the mood I start a letter, or even two or three. I write feverishly while the flow of thought is there. But then I save them as a draft. So I can edit them with a "different frame of mind". (And I have deleted a lot of good stuff!) But the day/time I start composing them is when it says they were posted. So the Post that says Sunday, March 30 didn't show up until late on Monday. And there may be some in the future that sit a week or more. Or some times two, long, intellectual posts will show up with the same date. Usually I write one, start another, quit, edit the first one send it, finish the other one send it the next day but it looks like they were the same day. Hope that makes sense? And I suppose I could somehow control that? But I don't care. Clyde

Time to explain

Hi everybody! (Thanks Daan for the really nice comments.)
I have been on an extensive Internet search for 4.5 years. When a doctor would speculate on say Noonan Syndrome I would search the heck out of it. Down to following links to CarePages, blogs, family photo albums. And what I observed was "Ken and Barbie" (beautiful, young couple) would have a kid with a disability and over the course of 3-6 years of family photos the parents would look like they aged 10-20 years. REALLY! I am sure it is happening to me. But I was never a "Ken doll" type so I really don't care. But I haven't shared any good recent pictures of myself. So I owe some people that.

This was me a few years years ago. A couple years before this photo Makenna was born. Back then I only had 5 or 6 grey hairs. But 8 years ago, before I got married I didn't have ANY grey hair! So I don't know what to blame this premature aging on really? Now my mustache looks thin, especially in this photo, because it has turned to silver, mostly. And my chin looks huge as my cheeks suck in....

This is a photo of me today! Man! the last couple years have taken their toll!!!!

Clyde