Merry Christmas!

Late but a Christmas post non-the-less!

This year Makenna was a "ham" at the photo shoot. So I made a collage. We couldn't decide which one photo or two we liked best so to stop the debate we did this. We are very proud of her riding her rocking horse! It was a gift from Grandma and Grandpa Larsen a couple years ago and she is now able to stay on top of it! Yeah!

This was also the first year we handed Makenna over to a "store santa". And if you look close at the background it wasn't at Wal-Mart! (It was at Cabela's. Can you find the Elk, Mountain Goat, Big Horn Sheep, Mule Deer and Black Bear? (If you find more than that let ME know.) It was FUN. Sheri and I guessed she would just EXPLODE once she was handed to Santa and then touched his beard. Nope, they got along fine.

'Kenna is doing really good this winter! Feeding is better, sleeping is better. She has had a couple colds which slow her down but overall things are going great.

This is not a flattering photo of Makenna or my mom, Mary. But Sheri and I liked it! This was taken after we got home from the Cabela's trip (the santa photo from above). It is hard work to travel, shop, eat, shop, eat and travel home. And when you have a good friend to cuddle with there is no reason to talk about your day!

Merry Christmas and Happy New Year to All!!! Clyde, Sheri and Makenna!

Another Costume

Well, I liked the TWO costume ideas Sheri had. And after getting the first one ready I really hoped we were done, for this year. I guess not. But the outfit based around the Kid Kart won't work for visiting people on halloween, I guess? So we finished another costume today. I won't tell you what it is... until after halloween. Look at the photos and if you can guess what Makenna is supposed to be you should win a prize, you won't, but you should. Clyde

Halloween creativity

Hi ALL!

I now know the fun of dressing a kid for halloween. But it was my first time and it was fun, kinda. (The first 4 years were a "Bumble Bee" costume given to us by a good friend, thanks Kim. It was very cute, and easy, I am sure I will miss that). Anyway, Kidz Construction Preschool and Learning Center decided to do a halloween program instead of a Christmas program. It was a hit, lots of people showed up and the kids were having a lot of fun. Sheri found this great idea somewhere for Makennas costume and fortunately I had all the stuff laying around. I spent some time washing 8 years of "attic dust" off of it, but that was ok, and it was snowing on me as I had it spread on the lawn to clean it.

For people who "know" Makenna it was a popular costume. For those in the audience who don't know Makenna I suspect they didn't get it. Look at the photo a while...do you get it?

A skiier with a broken leg! Sheri really did us proud! I thought it was hilarious!!

I have to introduce a new person here. I have never given credit to Chauncie on my blog. But I finally got a photo of the two of them, in which Makenna looks happy enough, to publish. Chauncie works for the Educational Service Unit who works for the local school district and spends three days a week at preschool with Makenna. We really appreciate all Chauncie does for 'Kenna (and we don't tell her enough). And I know Chauncie has really been instrumental in Makenna's development. So thank you Chauncie! And Chauncie has made it to everyone of Makenna's "programs" the last three years....Taking time away from her family and her evenings to be there for Makenna. She is awesome!

Okay one more photo:

And one that Sharon J. took of about half the kids on the stage. (My group shots didn't turn out very good. I was too far away, too short and using and using a cheap camera. But I am used to all of that!) Thanks Sharon. She also got some good photos of just Makenna that she shared too.

I think Sharon got the best picture of Makenna overall. So I will post that also. The difference is I use a large format so if you really want to look close you can....more medical than photographic, I suppose.

The Photo I like best is: This one. Kinda laid back thinking, "all these people are here for me?...well of course they are! I'm here, they are here, so it must be about ME and my broken leg...!

Soeren Palumbo Fremd HS Speech 2/28/07

This is the best speech you will ever hear.

Birthday Girl

I will publish this no matter how bad the photos and text are. I worked on it twice and trash-canned it. But now you get what you see. I need to get a new post up.

Here is a rare family photo. And not a bad one either (thanks Tanya). The Photoshop "red eye" fixer made Makenna look a little spooky but still not bad...

This is a little game Makenna likes: "Bet I can pull your hair hard enough to make you cry!"... she won...again...I am not as tough as I once was.

And this would be the traditional cake and ice cream on the face photo.

Some News

We are doing good. Makenna and I are just getting over our "summer colds". And it has been long enough I will post some developmental info about Makenna.
1. Personality and attitude are right on track (for a 5yo girl, she has tons of both).
2. Speech is lacking but she makes many different sounds that let you know her opinion.
3. Still no crawl, walk, talk or eat.
4. She "jabbers" for hours at times, especially at bedtime.
5. She has had a pretty good summer. Won't wear her glasses, hearing aids, or brace. So things have really gone her way for a while.

Some awards should be offered for people who visit this site?
So a GOLD STAR goes to Daan (Daniëlle) for being the first to see I put my last post up 6 times, and leaving a slightly sarcastic comment. A SILVER STAR goes to Sheri for telling me I put the last post up numerous times (Daan's comment was there so I know she gets the gold). And I guess I get the bronze for deleting numerous, repetitive posts.
This rating system is obviously a jab at the 2008 Olympics. I am tired of them, at least the stuff on NBC. I could rant for hours about them but will only say, "no one I have ever known has spent much time at the pool or gymnastics center on the balance beam!" I have actually meet two people who have been on past Olympic shooting teams and I don't even know if we have shooting in the Olympics anymore? AND the US Basketball team should do real well. I guess some of them even leave their hotels and visit the Olympic complex from time to time, this year. I am sure it is difficult for them to "rub elbows" with the common folk. I should get this quote in order before I try it from memory...oh well, I should do a lot of things. A comedian on tv the other day really put it in perspective, (this is more of a paraphrase than a quote) "Why do we get excited about the Olympics? It is based on everything Americans don't like: It is full of foreigners and America doesn't always win!" Enough of that.
If you have read this far I wanted this post to my blog to ask everyone to visit http://www.pierpontsyndrome.com/ site and go to the "OUR KIDS" page. There is something new there. The Pierpont family in the Netherlands has allowed me to put a picture of Daan on there! I only posted as much of a blurb as they wanted but I am excited to add a photo. Daan's mom was the first Pierpont parent I was able to contact. She was the second parent of a child with many similar needs I was in contact with, the first was Daan or Daniëlle (Puk's Mom).
I will add MY thoughts here about making contact with Daan's family . This Pierpont family is doing very good, as we all do. I received much encouragement and understanding from Alice. And with her help and her contact with Dr. Hordijk and his willingness to correspond. I gained much information about Pierpont Syndrome from these contacts. I will always have a special place in my heart for this family. The first time she sent me a letter and a couple personal photos (one is the photo on the website) I was elated for weeks. I have now met other families that have been just as rewarding...but she was the first Pierpont mom, and that is extra special to me.

Bi-annual trip

Hi all,

Makenna, Sheri and I just got back from our "6 month trip" to Omaha. It was due in June but 'Kenna and Mom were in California at that time. We were able to reschedule the dentist; audiologist (hearing aids); orthopedic (scoliosis); and orthotics (the guy who makes the brace for the scoliosis). We were unable to reschedule the opthomoligist until September.
It was a typical trip. We learned things we expected and we learned things we didn't expect:
First of all Makenna is loosing one baby tooth. Bottom, front. The x-ray showed the permanent tooth pushing it out of place. If there hadn't been a fight between the xray tech and 'Kenna and then Sheri noticing some bleeding gums I really don't know if we would know that much. It was a good answer to the blood. After the questions about, "did her teeth come in early"? No. "They actually came in late", we said. All I was thinking was, "you should know that, you have all the records". "Normally kids don't get their first permanent tooth this early", they said. They knocked one loose, a little early, I believe. Or the way Makenna chews and pulls on stuff with her teeth did? I was there I don't think they did anything wrong other than being single minded about getting x-rays. And I agreed with that approach and was trying to hold 'Kenna in a vice grip so they could do it. She didn't have to clamp that hard on things in her mouth. I really feel like a lousy father, but that is not new. I am putting no blame on the staff at the Tooth Fairy.

Hearing aids: no news there. No great advice to help us make her wear them. Makenna had another "behavioral hearing test", you know: hear a sound turn to look at the monkey in the box that lights up. She did better this time (with her behavior). She played along after a while. Nothing conclusive. Nothing changed. Response time given her didn't seem fitting and some subtle clues were missed, I think. Oh well. It was a hoot....again. I do believe we have the best clinical audiologist in Nebraska or any surrounding state. But he is used to dealing with kids with "hearing loss" they respond quickly or they don't based on what they hear. Makenna as a MR patient maybe heard that tone, at the volume, but why would she care to look for some monkey? She hates stuffed animals on principal, hates most animals generally. Why look to see what is going on again? You can't make her do it just because that is your rules for the game you want to play. Her game is different and you don't understand her rules either...so why wouldn't we dislike each other? Maybe I am reading to much into this?

Scoliosis: Some change. Last visit 6 months ago her curves were 5-7% better than this time. But her curve isn't as bad as once recorded. Maybe the brace is helping? Maybe the growth spurts are helping? Anyway the latest Cobb Measurements are; In brace: 41%/30% out of brace 60%/40%. As I remember it Makenna's highest readings, before bracing were 68% and something?. The readings 6 months ago were 53%/33% out of brace and 48%/25% in her brace. A 7 degree change in months is still significant. The lumbar curve is now the one that is progressing....That is bad news. But for all the families NOT dealing with scoliosis I would say: congratulations!...It gets blamed for more bad results from me, and Sheri, than it deserves: feeding, breathing, sleeping, crawling, walking and any bad behavior. I have a back that hurts. Maybe Makenna doesn't? She is not saying. So I have something to pin it on in my mind. Dr. Ginsburg was very sociable this time...that worries me. First hint of growing rods(surgery) mentioned by him. Maybe by the age of 6 or 7? I don't write this to be depressing. It is just time to start recording this for posterity. With witnesses.

Thanks for reading,

Clyde

We ARE alive!

Hi everyone,

Makenna and Mom have been traveling some.... about 4000 miles. And Makenna was "very good" the whole time! And Sheri had fun even though that many days on the road takes its' toll. Yes, it has been forever since my last post. While they were gone I got a lot of work done. I didn't have the mindset to post. Anyway Sheri and Makenna have made it home from California, then Colorado. So I have a few photos to put up.

This is Austyn, 'Kenna and Ally. They are cousins that live in Colorado.

This is Alyx, another cousin in Colorado, and Makenna wearing her cap like a gang-banger" wanna-be.

I will try and be more regular with posts. I am trying to keep this about Makenna and as many realize...sometimes nothing changes for months and months....So I guess it is based on my ability to craft a story? Clyde

No news is good news?

Sorry I haven't posted a new blog page in a while. It is not because things are going bad here, just the opposite. Makenna has been very healthy and happy. Sheri, Makenna and Sheri's parents went to California to visit one her sisters and watch her nephew graduate from high school, way to go BRIAN! I have been working 10 hour days on the job and spending my evenings tearing up some carpet, linoleum, vct tile and spongy sub floor to install new flooring in our dining room. So my hands have been too sore to type and my arms too tired to hold them to the keyboard. And yes, I am a whiner.
Kristy, a regular reader, my first "lurker" and a colleague from one of my other "side jobs" made the comment today that she was going to quit checking my blog because I am getting lazy, then tonight I got an email from Daan wondering if everything is OK with the family: so I had to write something. Things are good. I hope to post some photos of the girls trip when they get home in a week. But I really have little to share other than I am tired and the "warm fuzzies (money)" from all my work hasn't kicked in yet. I really get chatty after receiving a check for a completed job. I haven't finished anything in 3 weeks. I just keep struggling to keep all the bowling balls I am juggling in the air. (But it could be worse. I could have used the metaphor of running chain saws in my juggling.) The work is going good also. Just big jobs, taking a lot of energy. But I really appreciate people checking in and wondering if I am still alive. Thanks, Clyde

New Viewer

I must acknowledge a new guest to my blog. He left a comment so he gets recognized. Thanks Ray. Ray is my brother and a little known fact, believe it or not, is we are twins. Obviously if you see us together you kinda figure it out. Ray is 4 minutes older than me and a little taller, I just happen to be standing on the sidewalk (so I look taller). Clyde is on the left, with the cap on. This photo was from August 2006. We had been scuba diving/spear fishing.

Dann wrote this to me, "Your brother Ray wrote a message in Puk's guestbook!!!
Soooooo kind of him!! He must be very proud of his little niece!" Clyde said, "I know Makenna really likes Ray and his wife Laura, and vise-versa. But I don't know how proud he is...he hasn't bought her a pony or anything that special yet."

Time for Some Nudity!

No mater how well you think you can explain tube feeding, or a button to a lay person they always seem surprised when they see it. "Oh", many will say, "it actually goes right into her stomach?" Or something equally profound. Same with Makenna's feet. Her toes have looked like this since birth. I kept hoping she would grow and the feet would morph into something more normal. So she will probably never be a shoe model. Since this has turned in to anomalies 101 I want to add the uneven shoulders are ever present...scoliosis. A view from her back would show a large muscle/bone mass on her right side and a "skinny" left side. Her legs are uneven too (I tailor all her pants and never get them correct). But yeah, she sits great. She does not get in the sitting position by herself but she used to get herself out of this sitting position. It was never graceful and she won't do it anymore. Enough head bumps? Or more loss of ability to turn and put a hand back to help support/lower herself? She will sit until tired of it and throw a fit now to be allowed to roll. I suspect a lot of it is "learned helplessness" a document I will put on the website in the future. But I take most of the blame for that.

Makenna and Mataya

Sheri is sharing a very fascinating story with the girls. Mataya, like most kids, was very fascinated with Makenna and the Kid Kart. She is the daughter of my niece, Marlo.

Photo's

Saturday, May 10th, my niece graduated from high school. Way to go Sarah!!!
We went to the reception and I got some good photos which I want to share. Makenna made a new friend! Emily was so good with 'Kenna they became fast friends.

This was after they all changed cloths and ran/rode until tired. Of course the kid riding isn't as tired as the rest.

It was also my mom's birthday, Happy Birthday, MOM!! She is always trying to get a good photo of Makenna. She has taken most of the good ones...but statistically the number is still low.

In case you don't believe what I say here is a photo of Makenna saying: "Get that camera out of my face!" She was really happy, laughing and smiling at the crowd and auctioneer then she turned to look at me and held this look til I put the camera down. The look changed so fast I couldn't get a smiling photo. And it changed just as fast when I put the camera down. But I like this photo. I get this look a lot. She doesn't think I am very funny, very often either. Clyde

Happy Mother's Day!!

To all the Pierpont mom's, Undiagnosed mom's and all other Mom's I know: I salute you! But Pierpont Moms, diagnosed or not, especially. ( And doubly so for Makenna's Mom, Sheri! You probably deserve a badge of merit for everything you have dealt with from Makenna and me?)

Every mom deserves a salute. Mine more than most: Mary McVay, I wish you an extra special Mother's Day! I have never offered you thanks, publicly, for how you have stepped up and done all you can for Makenna....Until now. Don't feel like you can't do enough because what you have done is more than any 5 other people combined.

Here is a poem and honor to Mom's I liked. So I suppose no one else will? I had saved another poem for this occasion but the sappy, sugary, center of it melted on my keyboard and I chose this one instead. Clyde

Happy Mother's Day: Mothers Lie
By Lori Borgman

Expectant mothers waiting for a newborn's arrival say they don't care what sex the baby is. They just want to have ten fingers and ten toes.

Mothers lie.

Every mother wants so much more.She wants a perfectly healthy baby with a round head, rosebud lips, button nose, beautiful eyes and satin skin.She wants a baby so gorgeous that people will pity the Gerber baby for being flat-out ugly.

She wants a baby that will roll over, sit up and take those first steps right on schedule (according to the baby development chart on page 57, column two).
Every mother wants a baby that can see, hear, run, jump and fire neurons by the billions.She wants a kid that can smack the ball out of the park and do toe points that are the envy of the entire ballet class.Call it greed if you want, but a mother wants what a mother wants.

Some mothers get babies with something more. Maybe you're one who got a baby with a condition you couldn't pronounce, a spine that didn't fuse, a missing chromosome or a palate that didn't close.The doctor's words took your breath away. It was just like the time at recess in the fourth grade when you didn't see the kick ball coming, and it knocked the wind right out of you.

Some of you left the hospital with a healthy bundle, then, months, even years later, took him in for a routine visit, or scheduled him for a checkup, and crashed head first into a brick wall as you bore the brunt of devastating news.It didn't seem possible.
That didn't run in your family.
Could this really be happening in your lifetime?

There's no such thing as a perfect body.
Everybody will bear something at some time or another.
Maybe the affliction will be apparent to curious eyes, or maybe it will be unseen, quietly treated with trips to the doctor, therapy or surgery.

Mothers of children with disabilities live the limitations with them. Frankly, I don't know how you do it.
Sometimes you mothers scare me.
How you lift that kid in and out of the wheelchair twenty times a day.How you monitor tests, track medications, and serve as the gatekeeper to a hundred specialists yammering in your ear.

I wonder how you endure the clichés and the platitudes, the well-intentioned souls explaining how God is at work when you've occasionally questioned if God is on strike.
I even wonder how you endure schmaltzy columns like this one-saluting you, painting you as hero and saint, when you know you're ordinary.
You snap, you bark, you bite.You didn't volunteer for this, you didn't jump up and down in the motherhood line yelling,"Choose me, God. Choose me! I've got what it takes." You're a woman who doesn't have time to step back and put things in perspective, so let me do it for you.

From where I sit, you're way ahead of the pack.You've developed the strength of the draft horse while holding onto the delicacy of a daffodil.
You have a heart that melts like chocolate in a glove box in July, counter-balanced against the stubbornness of an Ozark mule.

You are the mother, advocate and protector of a child with a disability.You're a neighbor, a friend, a woman I pass at church and my sister-in-law.

You're a wonder!


Lori Borgman is a syndicated columnist and author of All Stressed Up and No Place To Go, her latest humor book now available wherever books are sold.

Tired of Waiting

I often get anxious for things to happen. Usually that means I do something to push it along and that always backfires. But I take back what I said about being happy to wait for Makenna's AJGM article since it would include updates on boy 1 and 2 and include a new case on the East Coast of the USA. While I am anxious to read of the newest child I am more anxious to see what is written about 'Kenna. I don't expect to learn anything new...but they may slip and put some things in the article I have never heard before? I am trying not to bother the MMI team. But I also know, "the squeaky wheel gets the grease". Must be time to send some polite inquiries to some people? And I struggle with the polite part in many, many situations. I don't want to offend/alienate this group.


I recently bought a calender, poster and t-shirt from Despair.com. Somehow they cheer me up! The t-shirt has this on it:



















This is the poster I bought. It pretty much explains my presence on the internet. And the fact I still get up and go to work every day. Oh and the whole husband/father aspect of my life. For example: "I DON'T KNOW WHY THE BUTTON IS STILL LEAKING! I have tried everything I know to do", said Clyde.

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

Test

Just a test to try and put video on this site.

This is Makenna, Otis, and Sheri hanging out after Easter dinner. That "thumb thing" has been going on for about 3 months. Makenna really likes to play with the space between her front teeth. But to quote Oscar LeRoy (CornerGas), that doesn't even make the list of the top 100 wierd things that kid does."

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

Info for PS families

Hi All,

Like my last post said I have much to share, so here is more of my recent good news. I have finally been contacted by Prof. dr. Han Brunner who is conducting research into Pierpont Syndrome. He has given me permission to quote him and refer to his work. So I will include a little tonight. He states: We are a group of clinical and molecular human geneticists at Nijmegen University in Holland and We have recently developed an interest in exploring the molecular causes of the Pierpont syndrome. I have been frantically trying to get things in order to send our DNA to Holland to be included in this study. This coupled with trying to produce a measurable amount of carpentry work and staying home with a sick kid makes me wonder if it is "good news" at this time? Anyway, I have been waiting months to be allowed to participate and we will. And I will say getting 3 blood samples taken, sent to a genetics lab for DNA extraction, and then forwarded to The Netherlands's sounds pretty simple and straight forward doesn't it? There will be more news for other families, who may want to participate in this study, later.

The last piece of good news I had this week was "our" website went online. There is really nothing on it yet because I haven't found time to work with the web designer: Jan Johnson, Ogallala. Nor spend one minute working with "MS Frontpage" the software we are using to design pages, to try and make a page for her to put on the site. There will be more there soon, I hope. I know Jan is working on a "page of links" from info I sent and an "open invitation" for other parents to be able to put photos and info: their favorite links, good news, on the page if they wish. It is in progress. I will put more information from Prof. Brunner on that site soon. So if you want to at least look at a cool logo Jan made visit: WWW.PierpontSyndrome.Com I also put a photo of Makenna there so there is something you will recognize as, "I am here! and Clyde is right there is nothing much else!" My blog will stay my blog, stupid stuff I want to talk about. The PS.com site will be professional and informative for future parents and medical professionals. BUT, the people reading this blog NOW are the ones who will have to make the website what we want it to be! By people reading this NOW I don't just mean the parents of children with PS. I know there are others reading this with some energy, ideas, money and perfectly normal kids. I would never exclude YOU from my club! We will determine how best to explain this syndrome to the world and how it has affected our children and families. And most importantly how to best work with the medical community! The only plan I won't accept (for Makenna) is: we could just 'choose to go away.' I warn you, the medical community would be happy to let us fade away. Not that they don't care. But they have dozens or maybe hundreds of equally pressing issues they could deal with given the time. They won't fight for MY cause until I fight for it and encourage them too! It is starting to sound preachy so I will close. Clyde

Good news comes in waves...

Oh, the amount I have to write will take all my spare time, and then some. But I just got my business tax returns back and learned I actually made money in 2007 so I know I am not spending enough time on the Internet! Might have to cut out more work? Making money is a principle I gave up 5 years ago. I have worked harder and longer hours (on the jobs I fit in around Makenna's schedule) the last 5 years than previously but still never seemed to break out of the red? But things do get better. In 2004 Makenna and I traveled a little over 8000 miles for doctor stuff and spent 42 nights away from home. This year, 2008, we only traveled 4,250 miles and spent 8 nights away from home. And Sheri did a couple of those nights and many of those miles! Work went much better in 2008. But to stop any speculation, I don't consider $4,120.00 profit much to celebrate about. When my brother and I started this thing I call a business, ten years ago, our long term goal made us out to be wealthy middle-aged men. Oh, the dreams of the ignorant.

More good news: I can share more of my story about why I am blogging. For about 6 months I have been in contact with a PS family in The Netherlands. I didn't have permission to disclose that info before. They are doing great as a family! Very positive about their son with PS. And he is doing good in his development. I went on a search like a "mad man" after Makenna's diagnosis. This family was the only one I found that would entertain me contacting them. It has been an incredible boost to me and Sheri emailing with them and sharing stories and photos, and encouraging each other! I realize I am a little negative and often depressing so I know they encouraged Me more than I did THEM. But they have kept my interest in parent support alive because they are so supportive!

Still More good news: I am also in contact with a family in the UK with a son with PS. I can share more of his info so will drop names and stuff. MUUWIRED from Makingcontact.org finally emailed me. He has been very supportive too. His family sounds like it is doing well. He has two sons, his youngest was diagnosed with PS. He got my award for posting the first comment to this blog! (And Matt, I am sure you will be getting that award in the mail just as soon as I learn how to post an international package....so don't hold your breath!) If you want to contact him go to Makingcontact.org and send him a note!

I have also heard from Sanemum but don't have enough info or permission to share at this time. I think I goofed that line of communication up. I know Matt has been in contact with her and I know he is an excellent spokesman for Pierpont Syndrome. And I believe Sanemum has a lot of knowledge about PS in the UK that I want her to share with our group.

I have also heard from a mum in the UK who's daughter is not yet diagnosed with PS. But her doctors are leaning toward that diagnosis. I know there is more to it than: "WOW, look at that kid!", from a genetic doctors stand point there has to be more. But when Sheri and I read, and looked at the photos in the two AJGM documents last July we were awed by the connection we felt! I have seen photos of Adamadamum's daughter and read a detailed list of medical issues/symptoms. I am pretty sure Adamadamum and her daughter are "in the club", but my college degree only states: "I don't paint"! It doesn't say: "I can do clinical diagnosis on your child".

I don't even know if Makenna is in "the club"? I believe we are. I do know every parent I have talked/emailed has different issues, some sever, with their child that they wonder if it is a PS issue or not? I also know most PS kids development is better than Makenna's. I realize my "big fuzzy picture" post wasn't everyones issues. I am so happy for the kids that eat, walk, talk or are learning signing! I realize those skills came with a LOT of work! I am NOT trying to start a pity party for me (or anyone else). I hope everyone keeps sharing the great news of the milestones your child makes with each other.

Thanks for reading this. Clyde

Dad really doesn't get it!

I think I was mistaken with my understanding of what Makenna was saying before with her blah, blah, Ehey, AAAHY!? I now think this is probably what she meant? Clyde

This dad stuff is so hard.

Dad doesn't "get it".

I was "talking" with 'Kenna about my blog and asking what she wanted me to share on it. She went on forever, with her answer, blah, blah, Ehy? AAAHY!, ....but, again I didn't understand a word she was saying so I think her answer, to ALL of my questionswas expressed in this photo. . . Clyde

Things are good!

I haven't written for a while because 'Kenna hasn't been feeling well. We spent Sunday, Monday, Tuesday and Wednesday getting her feeding/vomiting back on track. Sheri and I have had plans to attend a PEP (parents encouraging parents) conference for months. I have actually wanted to go for years. Then I settled into the "no diagnosis" cruise mode. Then I got a diagnosis and wanted to go again. I could write a book about that conference. It was worth the time and energy spent to attend. I will write more later to give thanks to the people who made it possible. Our daycare: Kidz Construction has really earned my respect and gratitude and deserves more credit than they will get here, on this one post.
But it would not have been possible without Tanya and Jason Gardner! Tanya was Makenna's first childcare provider....And I mean when NO ONE ELSE would take her in their home. I suspect many of 'Kenna's "quirks" can be directly linked to that. But that is why she is so fun now! I doubt if I would have totally quit work to be a, full time, stay at home dad that Makenna would be much fun now. And I doubt we could have survived without Sheri keeping her job and the medical insurance Makenna was "born into". I have checked. No one else will write a policy on our family. I don't mean "high deductible". I mean, "sorry your family doesn't qualify, period!" If you have ever considered how the "Gerber Baby" would look once the load in its diaper has gotten, "cold and uncomfortable" you know what I mean.
Back to the conference. The PEP conference is put on by the Nebraska Department of Education. Similar things are available in other states in the US and probably world wide? Find one and attend if at all possible! No, you won't probably meet parents who understand what you go through every day, but you will share a lot and learn a lot.
I also believe the Dept. of Ed. thinks it is much easier to get a bunch of parents in one room to hash it out then have those same parents dump on the local school, or state department of education. But I digress. The conference was awesome!
Sheri got what she wanted out of the conference. She actually posted a message on the board seeking a reply from a specific question or audience. I got what I wanted out of the conference and then some. I really like talking to parents of children with disabilities and I like talking about disabilities. My head still hurts from my inability to detach from that goal and enjoy some "down time". I have never had that opportunity and treated it "like a free buffet for the mind", but my mind wasn't up to the task.
A couple of other great things that have happened in the last week: Muuwired made contact with me! If you don't know what that means read further down in my blog. Then go to Makingcontact.org and send him a message. The second thing would be "Rob" replied to my email. I heard his story three weeks ago on NPR and immediately dashed off an email. NPR's story was mostly about his book, Schuyler's Monster: A Father's Journey with His Wordless Daughter (Hardcover). The real story is in the blog he has created. Robert Rummel-Hudson (robert@schuylersmonster.com I will buy the book! But want to digest the blog and the comments first. So when this blog is too slow go there for a "pick-me-up"! He says many things I think but just can't write. Rob started his blog early, before Schuyler's diagnosis so he can say what he still thinks now. Clyde

My Saturdays

I have had a lot of time, today, to think about what I should and shouldn't put on this blog (or what may be allowed). And if you try and follow it at all you will see things deleted that you thought you read once. Maybe so? If it is something you really wanted to be able to quote me on, contact me. I will stand behind everything I say or write, as a personal opinion: [Or write then delete.] . I will leave, my thoughts, on this site until some one asks me, in a nice way, to remove it! I am not trying to write about my fight with a diagnosis, syndrome or a particular medical field! Or start a fight about one country against another! I am trying to reach a specific audience: Parent's of Children who have been diagnosed or may be diagnosed with Pierpont Syndrome. So I appreciate my editorial staff. The People who tell me, "you can't say that!" Even when I think they are wrong and I am right and I SHOULD say it.
So it was a great Saturday! I finished a job on a Saturday! That's gotta be a first? Usually Saturdays are spent fixing problems from the M-F efforts. But, I get to be in charge of the RADIO on Saturday! Which is what I was, mostly, thinking about today. If anyone has problems understanding many of my vague references, about any subject, listen to PRI (Public Radio International), or NPR (National Public Radio), or your Nebraska Public Radio Station on Saturday. That is basically my view of the world. And it is awesome! Tonight, Prairie Home Companion is the annual "joke show"....So I am waiting for, "The Thistle and Shamrock" to come on. I love PHC but the joke show takes so much effort to follow, and with little reward....Perhaps I left my sense of humor in some waiting room somewhere? I used to enjoy it more.

Thank you! Clyde

We are making new friends!

I got a nice email from a mom in the UK, she signs in as adamadamum on a question/answer type site. She wanted to hear more about Makenna. I want to post most of my reply to her on my blog. So I can quit cutting and pasting and writing it over and over. Sorry, if you don't like this post- someone asked. I have panicked and/or fretted over every "label" Makenna has gotten, but not nearly as much as Sheri. I have spent a lot of time searching the Internet about all these labels/issues and it was darn depressing a lot of the time.
We try not to use any of this terminology in our story about Makenna. We hated to hear all of this but it is what we are living, every day.

Labels: Symptoms:
1. Autism, specifically PPD-NOS (pervasive developmental disorders-not otherwise specified)We got that one at about 8 months old from the Early Development Network staff. Once the first milestones weren't met the schools needed a recognized label for services.
2. Cerebral Palsy (CP), got that label about 18 months old. I remember arguing (arguing is a polite way to describe how I was acting) with a nurse to remove that from a chart she was filling out. She was right, I suppose? After a doctor explained it this way, loosely translated, "her brain does not seem to be telling her legs to "walk" or hands and knees to "crawl, and that is pretty much the definition of CP." But I didn't like it one bit.
3. Primordial Short Stature/Dwarfism. Or some form of it could be playing a part in her growth pattern. She has pretty much grown out of that category, I think. And I don't plan on asking anyone about it in the future. But it was a response based on one doctor not accepting:
4. Failure to Thrive, as a real diagnosis. Especially when used in conjunction with a kid who won't/can't nipple or eat food by mouth. But that label, failure to thrive, helped with my fight to get a button put in when Makenna was about 8 months old. We should have never left the NICU with out a g-tube/button. We did have an ng tube during that time. Horrible. We kept hearing, "give her a few months, work on the feeding at home. It will get better." Wrong. And Sheri works hard with her oral feeding skills. All swallow studies have shown aspiration. So Makenna is still tube fed.
5. Scoliosis: Started at about 8 months old, 20 degree. It progressed rapidly there for a couple years. Every six months was a bigger number. It reached 60 degrees/32 degrees. And our last check up in January, 2008 showed it back to about 47/21 degrees. She has worn a brace for 2.5 years. I don't know if I really believe in the brace. The brace was on during the rapid change. And now the ortho wants to give the brace the credit. I don't know? She had a couple growth spurts in there and some of her other systems are making big changes. But we use the brace. Every kid should go to school in a "bullet proof vest". And I could go on at length about the difficulties of a button with a brace.
6. And now, Pierpont Syndrome. Which is, I am sure, a fit. But I always said I would only be happy with a diagnosis that had a genetic test to confirm it. For a while the clinical diagnosis stuff seemed sketchy, probably because I was doing too much of it on my own? Our geneticists were very good to not speculate much, in our presence, about any syndrome. But they had to tell me what all the tests they were running when I asked why they needed more blood. But I am not claiming to be happy with any of these struggles, now am I?

Issues:
There are many and the stories are long. So I will try and condense a lot of this. If any reader has specific questions about any one thing please e-mail me. I will share what I know and hopefully you will correct me on the things I am wrong about.
1. Glasses at 6 months, strabisimus (cross eyed). surgery about 6 months later. Glasses ever since. She tends to chew on everything all the time. She has ruined about four pair of glasses and so many cable temples I quit counting. Her eye sight at her January checkup has gotten better! She went from about +6.2Spherical/+6.7 Spherical in 2005 to +2.25Cylindrical/+1.5 Cylindrical in 2007. She has always been Far sighted. Now her doctor says that has completely changed and she is becoming Near sighted.
2. Otitus Media, Constantly! Ear tubes, 3 different times, there isn't enough ear drum left to put in another pair I guess? But the holes are staying open from the last rejected t-tubes. She doesn't have pierced ears...she has something more special.
3. Hearing aids. She only had one for a long time but the hearing kept getting worse. So she uses two now. She chews on them equally. Chewing up a $200 pair of glasses is nothing compared to seeing a $1,400 hearing aid used as a binky. Her hearing is also opposite of the type of loss usually seen in children. Her hearing is much worse in the lower frequencies and gets better in the higher frequencies. It would be labeled moderate. They hate to push it to severe because mom FREAKS OUT when anyone says that....But I have read it described that way from Makenna's last ABR. She just won't cooperate for a behavioral hearing test, go figure.
4. GERD: Feeding is still a biggie. Have used Alimentum in the past. We are now on Neocate. We got some allergy testing done and may try and move her to Pediasure. Again a label: milk/soy intolerant. We know not allergic but she could be intolerant? And I agree with the GI. She did a lot better once on Neocate and we tried to go back to Alimentum and had trouble. That was a couple years ago. She still doesn't handle a fast rate. We cannot bolus feed. We use a pump and put 205ml in over an hour. She is ready for the rate/dose to be increased to just below the vomiting point. Have used a daily course of antacid for years. Prilosec currently, she is doing well on it. This reminds me to warn you at some point in the future you will get to read a huge RANT from me about generic medicine!! Be warned.
5. Vomiting! Oh, I am too tired to talk about that. It is getting better. A lot better, but not perfect. And she does it to herself more and more? The slightest breeze in her face used to set it off, but that and things like that are getting better.
6. She hates shoes and socks. Not crying about it or anything like that. But she is able to get them off now, unless they are laced up.
7. Constipation: Always been a problem. Miralax seems to still be working good for her. We have used others. The whole gut motility thing is screwy.
I will end here. That is a majority of the info that helps paint the Big Fuzzy Picture.

Why Blog?

I told some one, a couple years ago, a did not want a blog because it would be only self serving, and depressing to the reader (and it would have been at that time). This, like all blogs, will still seem self serving at times, maybe depressing occasionally. I would say, "I am sorry" right now but I am not. Anyway, I spent hours sending private e-mails, to family, friends and writing long, intelligent (I think) letters to doctors with the belief that some one else got my message and knew what I was thinking? But that didn't really advance my knowledge base, much. People wouldn't know what to say, so didn't reply. People would have one or two similar issues but a totally different mountain to climb. I started my blog because I found a need to reach a specific audience. This post may sound weak because I have no permission to name names, other than the public domain names. I started this blog to help reach MUUWIRED and SANEMUM from MakingContact.org! And others who may visit that site in the future. And it is a great site, everyone reading this should visit there!
I hope my candor on this blog convinces people I am the real deal! I have one goal: contact with others who have an interest in children of any age, with disabilities. But specifically Pierpont Syndrome. I know there are "dozens" of us now, world wide.

Hi Friends

Sheri has invited a few people to visit. I am glad she approves of everything so far. I will post some photos I was never able to share with friends, much less the world. These photos are from mid/late 2004 (about 7-9 months old). She got glasses at 6 months old. I think the photos are are important in our story. . The glasses are important, too but that is a different story! I apologize if this blog seems to jump backward, forward, then backward in time. All I can say is try and keep up people! I don't see how my random thoughts could cause you problems? I will try and label posts to help! But labels and time line are not the same. The middle photo is just cute and really shows her, "little carpenter hands". The bottom photo is mom and Mak' and one of her first smiles/laughs. The laughs were rare commodities for the first two - three years. They are almost none stop now. The top photo is Little Mak in her first spica cast, bilaterally dislocated hips. One of her multiple congenital anomalies. Four years after this photo I can say the hips are NOT in place, and she has reached a point where putting them in place (through surgery) is no longer an option. So that is the first time I can say hopes and reality collided. The hope: (They would do surgery when Makenna showed signs that she will be ambulatory, (crawl/walk)...or something like that). So we can only blame Makenna! Because she still doesn't show signs of crawling, or walking. I didn't know there was a time frame, I specifically asked about, "crawl by 4 years old or walk by 8 years old, if not forget it?" I got that off of some orthopedic website. Our ortho hadn't heard of that theory, or agree with it I guess because we did not have until 4 to prove crawling. We just learned, one day, "it is too late to discuss putting those hips back in place". Maybe they were right? At almost 5 she still doesn't show signs of crawling or walking. She shows interest but no real effort! I honestly believe she will walk some day, but it will be no credit to the Pavlick harness, the spica casts, or traction. I never got a read on the doctor's opinion about his optomisim at the beginning. And I still don't know if he is supprised with the outcome? But you have to try somthing and we are thankful for all he did. Same with future posts about scoliosis. I really shouldn't even know how to spell that word...scoliosis, much less what it might mean to an infant, and worry about what it will mean in her future.