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."
Monday, March 31, 2008
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
Friday, March 21, 2008
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.
Tuesday, March 18, 2008
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
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
Saturday, March 8, 2008
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
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
Friday, March 7, 2008
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.
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.
Tuesday, March 4, 2008
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.
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.
Saturday, March 1, 2008
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.
Good Morning Photo from, July, 07.
Want to get a photo up showing who this post is about. And explain the name. Makenna has always been way below the 5th percentile on the growth charts. We never call her "Little Mak" ourselves but when Sheri's sister was visiting she constantly was, we thought it was a pretty cute nickname from her aunt. (We live near Lake McConaughy which is usually referred to as "Big Mac"). And one of Makenna's many labels/symptoms was Primordial Short Stature. Ultimately I believe she will become a very large, little person. We got another growth spurt last month. She is about 35" tall now, and on the chart, (but the chart I have ends at 36 months) ayway on the chart, YEA Makenna! The "one out of millions" comes from my expectation when/if we got a diagnosis it would probably be one in the 1/300,000 birth range or even 1/500K range. Hopefully with some sort of parent support group in place and some common knowledge among the medical community. NOPE. No one knows how many already diagnosed Pierpont children there are, or if some one does they aren't saying. And I know the number has to be below 50 world wide. So one Pierpont birth for millions of births is fair. Looking back, hanging out in the "undiagnosed community" did have some sense of being wrapped in a, albeit small, blanket of comfort. But I don't want to get too dreary today, so enough of that. Here is a photo of my favorite project. She has guaranteed me steady work for the rest of my life. Unfortunately the monetary pay is substandard, but the work is more fun than carpentry work. Clyde
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