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Thread: CN Central Check In: 2015

  1. #11
    Distinguished Community Member Earth Mother 2 Angels's Avatar
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    ((((((Tamie)))))) ~

    What a great breakthrough with these genetic findings! And a relief for your daughter and her children that she is not a carrier of this rare mutation. Maybe Tyler's dad is balking, because he doesn't want to know whether he is a carrier.

    When we were first told that our boys' condition/disease/disabilities resulted from a double recessive gene (meaning both parents contributed to the mutation), I was devastated with guilt. Of course, my genetic makeup isn't of my own doing, but I felt responsible.

    In the dark ages of genetic testing, we were simply told that known mutations had been ruled out, eg. Fragile X, which seemed to be a very viable explanation for my boys, as they exhibited some of the outward physical manifestations.

    We gave up on genetic testing, because our families didn't seem to want to know if it was hereditary, and both sides believed that the other side was "at fault." And it didn't matter to me, because I wasn't having more children, and the answer wouldn't change anything in my boys' lives or my loving and caring for them. Same as with Tyler. Except with Tyler, his siblings have a right to know.

    Genetics is an extremely dynamic science, and discoveries can sometimes take years. So, it's really great news that Boston Children's isolated the mutant gene and were able to provide you with this much information.

    Celebration Smoothie ~

    Please keep us updated on Tyler's response to the oil ~ praying it controls his seizures, and his bladder/kidney issues.

    Love & Light,

    Rose
    Mom to Jon, 48, (seizure disorder; Gtube; trache; colostomy; osteoporosis; hypothyroid; enlarged prostate; lymphedema, assorted mysteries) and Michael, 32, (intractable seizures; Gtube), who were born with an undiagnosed progressive neuromuscular disease and courageous spirits. Our Angel Michael received his wings in 2003 and now resides in Heaven. Our Angel Jon lives at home with me and Jim, the world's most wonderful dad.

  2. #12
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    My new year is good so far. The editing of my film is taking longer but going well otherwise. I am seeing a reduction in the amount of my spasticity from increased exercise i.e martial arts adapted for the physically disabled. My decorations come down this week. The only bad news is I had a bad fight with my friend with CP who had the hip surgery I posted about a few years ago(long odd story). She refuses to talk to me. It breaks my heart. That's life I guess. Nice to see updates from everybody!
    Last edited by funnylegs4; 01-20-2015 at 10:30 PM.
    Mild Spastic Diplegia Cerebral Palsy and bad proprioception.
    My website for my original short films! http://cripvideoproductions.com/cripsnotcreeps.php

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  4. #13
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    Sadly nothing changes for Tyler with the new information we have, but it has an enormous consequence for his siblings and it may help down the road with prenatal testing and, treatments for future children born with the same mutation. If they can get a handle on the seizures at birth, those children may have a chance to develop normally. It has something to do with the sodium channeling between the cells. I will know more next week, after I get a copy of the results from the neuro.

    As for Tyler's dad, well.............He has not seen his son since Tyler was three. No calls, no inquiries, no notes, no emails concerning him, nada, zip, zero, zilch. Just a monthly check (which stopped when Tyler turned 18). Tyler also has a sibling through his dad and stepmom, so this should be important for that side of the family as well. I am really hoping the mutation was spontaneous and suspect that is true, cause there are no other instances of OS anywhere in either family line. I would just like for once, to see Tyler's dad do something, other than write a check.
    grandmother of Tyler (22): Ohtahara Syndrome/SCN2a gene mutation, cortically visually impaired, quadriplegic, severely developmentally delayed, no speech, severe intractable seizures, frontal and temporal lobe atrophy, progressive scoliosis/kyphosis, chronic kidney stones & UTI's, gastroparesis, 100% tube fed, autonomic dysreflexia, but what a precious gift from God. "Lord, grant me the serenity to accept the things I cannot change."

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  6. #14
    Distinguished Community Member Earth Mother 2 Angels's Avatar
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    ((((((funnylegs4)))))) ~

    I'm so sorry about the conflict between you and your friend. Have you tried sending her a card or flowers? Letting her know how sad you are about the argument/misunderstanding? I hope you are able to mend fences.

    But that's great news that you are experiencing improvements with the marital arts therapy/exercise!

    Celebration Smoothie for you!

    I keep telling myself that I must start taking down the decorations. But the tree went up on 12/24, so it hasn't been a month yet. That is my excuse. And I'm sticking to it!

    All the best to you with your film! Looking forward to its premiere!

    Love & Light,

    Rose
    Mom to Jon, 48, (seizure disorder; Gtube; trache; colostomy; osteoporosis; hypothyroid; enlarged prostate; lymphedema, assorted mysteries) and Michael, 32, (intractable seizures; Gtube), who were born with an undiagnosed progressive neuromuscular disease and courageous spirits. Our Angel Michael received his wings in 2003 and now resides in Heaven. Our Angel Jon lives at home with me and Jim, the world's most wonderful dad.

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  8. #15
    Distinguished Community Member Earth Mother 2 Angels's Avatar
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    ((((((Tamie)))))) ~

    Tyler is a pioneer paving the way for future children, who have this mutation, to be diagnosed and treated. What a magnificent contribution he's making toward a better understanding of this genetic anomaly.

    I hope that it is spontaneous also, as that would relieve anyone from potential guilt feelings. Initially we were told that our boys' conditions resulted from a double recessive gene (both parents carry the gene). But all of the genetic testing we had done was inconclusive. I carried guilt anyway, until one day, I just had to let go of it. Like you, I realized my boys are precious gifts from God, and that was all of the information I need.

    How wonderful it would be if Tyler's dad wanted to be Tyler's dad. How do you think Tyler would react to him, if he made an effort to be in Tyler's world?

    My ex moved as far away as possible, when the boys reached 18, visited for an hour or two every other year, when he was in town for another reason. The last time my boys saw him was 1990, when he visited for 5 hours, while I went to the hospital to see my dad, which was also the last time that I saw my dad, ironically. My boys didn't want to know my ex. Michael turned his back, literally, on him, and refused to interact with him. Jon was distant and quiet. When I returned from visiting my dad, my ex complained that the boys ignored him. I told him, "You get what you give."

    And that was his loss, not theirs, because they were loved by me, their family, and many friends. A couple years later, Jim appeared, and my boys finally had a Real Dad. My boys meant so little to my ex that, after 25 years, he has never inquired about them once.

    I chalk it up to bad karma for my ex and Tyler's dad. So many missed opportunities for grace, and innocence, and unconditional love. Their loss, not Tyler's or Michael's or Jon's or yours or ours. Perhaps it is a "soul mutation."

    Here's to Tyler, and to you and your husband, and your loving family circle ~



    Smoothies all around!

    Continued prayers that Tyler will remain infection-free and seizure-free ~

    Love & Light,

    Rose
    Mom to Jon, 48, (seizure disorder; Gtube; trache; colostomy; osteoporosis; hypothyroid; enlarged prostate; lymphedema, assorted mysteries) and Michael, 32, (intractable seizures; Gtube), who were born with an undiagnosed progressive neuromuscular disease and courageous spirits. Our Angel Michael received his wings in 2003 and now resides in Heaven. Our Angel Jon lives at home with me and Jim, the world's most wonderful dad.

  9. #16
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    Quote Originally Posted by Earth Mother 2 Angels View Post
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    ((((((funnylegs4)))))) ~

    I'm so sorry about the conflict between you and your friend. Have you tried sending her a card or flowers? Letting her know how sad you are about the argument/misunderstanding? I hope you are able to mend fences.

    But that's great news that you are experiencing improvements with the marital arts therapy/exercise!

    Celebration Smoothie for you!

    I keep telling myself that I must start taking down the decorations. But the tree went up on 12/24, so it hasn't been a month yet. That is my excuse. And I'm sticking to it!

    All the best to you with your film! Looking forward to its premiere!

    Love & Light,

    Rose
    I'v tried every kind of contact I can think of with her Rose. She shuts me out no matter what. I miss her so much! Everyone agrees that it was not my fault and she is just overreacting. My door is always open to her. Thanks! My body is making amazing strides and I was recently able to use my new skills to help somebody else with CP when he had trouble getting his body positioned correctly(I was the only one there so we had no choice) by aligning and stabilizing my body then helping him by supporting his weight for a short time and he must be like 150 pounds. I'v always been strong enough to do things like this but have never had the balance or coordination to do anything like that before so at first I was terrified I would injure him but we did what we had to do very carefully and it was really awesome. So that's worth a smoothie! Thanks! My film will be out sometime after all this snow passes. We are basically done editing minus the captions and ending credits :) I really appreciate your support as always!!!
    Last edited by funnylegs4; 01-26-2015 at 11:00 PM.
    Mild Spastic Diplegia Cerebral Palsy and bad proprioception.
    My website for my original short films! http://cripvideoproductions.com/cripsnotcreeps.php

  10. #17
    Distinguished Community Member Earth Mother 2 Angels's Avatar
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    ((((((funnylegs4)))))) ~

    Awww ... I'm so sorry that your friend is shutting you out. Give her some space, and keep that door open. Life is dynamic, and things change constantly.

    How cool that you were able to help that gentleman with repositioning. I don't know what size you are, but a 150 lb man is a good hunk of body to reposition (I know this from experience ). So, it is awesome that you could assist him without injuring him or yourself. HIGH FIVE and FIST BUMP on that one! And here's 2 smoothies for you!

    How did you fare through the blizzard? Looks like more might be headed your way over the weekend. Stay warm and safe!

    Meanwhile, here in Paradise, we have been contending with the smell of fire and smoke in our skies from a fire 100 miles from us since Sunday. A mulch farm. Every morning, when I first step outside to begin my walk, I smell the fire. When I get to a certain point, I scour the vast vista of the sky and assess the amount of smoke clouds. It's inevitable, as we are in a 1200 year drought.

    We had one day, one single day, of rain, a paltry amount of rain. The next day ~ gusting Santa Ana winds dried out everything.

    Meanwhile, you folks in the East are up to your eyeballs in snow.

    Bill Nye, the Science Guy, said the other day that folks don't associate the blizzard with global warming. So, we resort to the meaningless euphemism of "climate change." I don't care what they call it. In my lifetime, I've seen the destruction of our planet, and we're paying for it now. Look at all of the waste we produce, and we don't know what to do with it! We've civilized ourselves right out of civilization. At least, I think that will be the end result.

    Off soap box!

    Sounds like you're getting close to launching your film ~ congratulations! I've got a front row seat reserved for viewing!

    Love & Light,

    Rose
    Mom to Jon, 48, (seizure disorder; Gtube; trache; colostomy; osteoporosis; hypothyroid; enlarged prostate; lymphedema, assorted mysteries) and Michael, 32, (intractable seizures; Gtube), who were born with an undiagnosed progressive neuromuscular disease and courageous spirits. Our Angel Michael received his wings in 2003 and now resides in Heaven. Our Angel Jon lives at home with me and Jim, the world's most wonderful dad.

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  12. #18
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    Quote Originally Posted by Earth Mother 2 Angels View Post
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    ((((((funnylegs4)))))) ~

    Awww ... I'm so sorry that your friend is shutting you out. Give her some space, and keep that door open. Life is dynamic, and things change constantly.

    How cool that you were able to help that gentleman with repositioning. I don't know what size you are, but a 150 lb man is a good hunk of body to reposition (I know this from experience ). So, it is awesome that you could assist him without injuring him or yourself. HIGH FIVE and FIST BUMP on that one! And here's 2 smoothies for you!

    How did you fare through the blizzard? Looks like more might be headed your way over the weekend. Stay warm and safe!

    Meanwhile, here in Paradise, we have been contending with the smell of fire and smoke in our skies from a fire 100 miles from us since Sunday. A mulch farm. Every morning, when I first step outside to begin my walk, I smell the fire. When I get to a certain point, I scour the vast vista of the sky and assess the amount of smoke clouds. It's inevitable, as we are in a 1200 year drought.

    We had one day, one single day, of rain, a paltry amount of rain. The next day ~ gusting Santa Ana winds dried out everything.

    Meanwhile, you folks in the East are up to your eyeballs in snow.

    Bill Nye, the Science Guy, said the other day that folks don't associate the blizzard with global warming. So, we resort to the meaningless euphemism of "climate change." I don't care what they call it. In my lifetime, I've seen the destruction of our planet, and we're paying for it now. Look at all of the waste we produce, and we don't know what to do with it! We've civilized ourselves right out of civilization. At least, I think that will be the end result.

    Off soap box!

    Sounds like you're getting close to launching your film ~ congratulations! I've got a front row seat reserved for viewing!

    Love & Light,

    Rose
    Thanks! Good advice! My door will remain open. The blizzard luckily bypassed my area pretty much so the snow wasn't even that deep and no power outages or anything. Yay!
    In case you were wondering I'm only 5'2 and around 120 pounds at this point in my life. He's a little bit taller. Thank you! I thought of you moving Jon when I moved him and I appreciated what you do for Jon.

    My film was actually uploaded online today and can be found here http://cripvideoproductions.com/cripsnotcreeps.php I hope you like it!!!
    Mild Spastic Diplegia Cerebral Palsy and bad proprioception.
    My website for my original short films! http://cripvideoproductions.com/cripsnotcreeps.php

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