Things have been slow on this site. Special thanks to Danielle for pointing that out. I think I will start posting photos of things just related to Makenna and her care to make a post. And it may serve a great service to people who stumble on this site? For example: Makenna hasn't been feeling good, so we have been hanging out together for a few days. And at one of her feedings when I decompressed her I got a "classic syringe half full of yellow stuff"! (not just a little but a lot) And I thought, "I should take a picture of that because it has been months since I have seen that!" And Sheri and I had to wait a long time to see our GI doctor to question how normal that was (years ago when we saw it all the time). We really began to panic. So I think a photo of that here would be a great community service. And when the Internet begins to incorporate "smell" you will get the full effect. ...I guess a bright shade of yellow, thin, smelly fluid is normal (they said then). I am saying it is "normal" when the kid isn't feeling good. I wish I could narrow that down some more but I can't.
And this blog has always been a place to announce any new information about the http://www.pierpontsyndrome.com/ website, which doesn't give me a lot to write about either. But I did receive a letter from the family in Northern Ireland!!! (That would be "boy two" in the first AJGM article. Or Dominic!) I don't know how much I can share about this boy either? We haven't gotten to the point where I can give names, or many details... but his mum said she would send some pictures to include on the website. This would be through a friend/service provider who does use the Internet. (I really want to type her name here and thank her! I won't till they say I can, but thanks "A"!) I will give that a while to happen and if it doesn't I will scan some photo copies and see how that looks on the web, because I do have permission to put some photos up. I will summarize her letter to me as (this is the part I don't know if I have permission to say so I will be precise and mostly vague), "Dominic is 14 years, 9 months old now. His vocabulary is one word, but is very vocal! He does eat orally, with some modifications. He has scoliosis which will require an operation, and is on a waiting list." My thoughts are: He looks like a happy, bright boy who anyone would enjoy being around, and they do!! And a glimpse 9 years into the future was priceless for ME!
Showing posts with label Good News. Show all posts
Showing posts with label Good News. Show all posts
Friday, February 20, 2009
Wednesday, August 20, 2008
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.
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.
Wednesday, May 14, 2008
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.
Friday, May 9, 2008
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.
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.
Monday, April 28, 2008
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.
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.
Sunday, March 30, 2008
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
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
Friday, March 28, 2008
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
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
Tuesday, March 25, 2008
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
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
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