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Post by Googsmom aka Jennifer on Oct 4, 2010 9:47:51 GMT -5
How are things going Susan?
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Post by char on Oct 4, 2010 12:06:24 GMT -5
Susan, you and Emily and the rest of your family are in my thoughts and prayers!
Char
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Post by Emilysmom on Oct 4, 2010 20:01:48 GMT -5
I just have to say that this girl inspires me every single day! ! ! She has just taken all of this in stride and continues to go on like nothing is happening to her! And she is SO happy and sweet. There are hard things..........like watching her attempt to bat during baseball. Even when we convinced her to go back to using a tee (like the "little kids", according to her), she struggles to hit the BALL and not the tee. And, walking into her room to see her staring straight at the door (across the room from the TV) while listening intently to the TV and seeming to totally enjoy it is rough. Remembering to watch out for her when we cross a parking lot or street.........scary, because I don't always remember!! And, watching her reach out for someone's hand to walk very carefully down the stairs at our church has been sad.........the same stairs she has RUN down for years. BUT, no matter what, SHE seems to be adapting very well and I absolutely love her spunk.
Susan
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Post by Debi on Oct 5, 2010 12:11:34 GMT -5
So glad you posted Susan.. Emily and Ayden have been constantanly in my thoughts!! That is what I soooooo love about that girl.. she is personality plus!! Can just imagine, tho Susan how hard this is for you., My niec,e who was born with a very very rare syndrome, slowly lost her sight as she grew into young adulthood. It was VERY hard for my brother who already had had to deal with a lot of loss and "dreams reimagined" already for his daughter. so kiddo.. thinking lots and lots about YOU too! Emily and Susan Pace.. the mother and daughter duo who BOTH have lots of spunk!!
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Post by Emilysmom on Oct 5, 2010 20:24:34 GMT -5
Not having so much spunk tonight. I am so bummed, I just can't stand it. I talked to the woman in charge of the research study in Miami this morning. I had such high hopes that Emily would be included in that study! ! And, when I first called them last week, I was told that she would definitely be accepted into the program..........simply because she has the LHON 11778 gene. As we started to talk about when she would need to go to Miami for the first visit, I was asked about her general health. I went on and on about how healthy she was, and then it hit me.........I should probably at least mention that she has Ds. When I did, there was this long awkward pause. Then she told me that she would have to contact the doctor and ask him about it and would get back to me. So, today, I got the answer.....................NO, Emily can not be included in the study. Which means, when they approve the medication they are studying now (and Em's doctor in Columbus seems confident that it will be approved and will really help), the first people to get to take the med will be those in the study. And Em's not in it. Can I just say GRRRRRRRRRRRRR?
Susan
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Post by laurasmom on Oct 5, 2010 23:29:43 GMT -5
Susan, this just irritates me. I really am not sure what I am talking about, but where are they getting the funding for this research project, and are they using any federal funding? Not sure if that would make a difference. I would keep after them, ask for their reasoning for not including her. It may be they have limited experience with people with DS, and not know of Emily's wonderful capabilities.
Sharon
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Post by kg91207 on Oct 6, 2010 9:19:34 GMT -5
Oh that makes me angry. I do the same thing tho-I will be talking about Kaelyn, health wise, and going on and on about her, not even thinking about the DS. It's just not an issue for us!!! I wish it wasn't for other people. Just because she has DS doesn't mean she should have to lose her eyesight. *hugs*
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Post by Debi on Oct 6, 2010 12:15:03 GMT -5
Susan .. literally just have aminute here but isn't there a compassionate waiver program for just this type of situation?? Gonna try & look that up for you. Don't blame you for being bummed. Not that this is true medical advice but recently saw the movie Extraordinary Measures with Brandon Frasher and Harrison Ford. It's based on a true story .. Frasher plays a father who has two chldren with a rare form of MD; the Ford character is a scientist who helps him. Utilmately all that research and work and money they raise ends up being used as a drug but his two children aren't eligible for the very program he helped bring into existance. Sorry.. this is a bit of a ramble but don't know if it would apply for Emily or if it HAS to be life-threatning. Keep us posted.. Emily's always in my thoughts
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Post by rlm08 on Oct 7, 2010 19:40:40 GMT -5
I am no scientist, but I would think that having someone with DS might actually be beneficial and help the study. Keeping you and Emily in my thoughts.
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Post by Googsmom aka Jennifer on Oct 9, 2010 14:04:45 GMT -5
{{{{{{{{HUGS}}}}}}}}
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Post by momofrussell on Oct 13, 2010 14:08:59 GMT -5
I know we've already talked...... I hope the meds help! AND...I still think you need to come visit St. Louis and our eye doc. ;D wishful thinking, I know! A.
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Post by Chris too on Oct 19, 2010 11:12:48 GMT -5
Aw, Susan! It's so hard when the Ds limits our kids, but this takes the cake. Do you think the denial is because the condition is genetic? Is the therapy some sort of gene therapy - something to "turn off" the expression of that gene? I wonder if they would consider a side-by-side study of people with Ds who have this gene - maybe it will work better with a trisomy. I'd think they'd want to know.
Regardless, I want you to know that I've been praying for Em every time I see your picture on fb ever since I read of her eye troubles. I'll just keep that up.
{{{hugs}}}
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Post by sd112170 on Oct 19, 2010 12:06:17 GMT -5
Just plain mad about that!!!
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Post by momofrussell on Oct 19, 2010 13:35:49 GMT -5
That's AWFUL!!!
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Post by Jackie on Oct 20, 2010 9:01:57 GMT -5
Susan this is a bummer and I would at least call back and ask for an explaination. You are a medical person so you know that studies have parameters and perhaps one them for this study is no pre existing conditions which of course DS might be. Anytime they try to approve a new drug the guidelines have to be ultra strict and imagine that a second study (if the drug proves effective) might be done on people with other conditions in addition to Lebers. This doesn't make it any easier but ...why don't you call or try to get in contact with the head person on this study.
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