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Sunday, November 3rd, 2013
4:53 am - Everyone was shocked... except me
blessedmomma23 Is it wrong that I felt slightly relieved to get my 10 year old son's FXS diagnosis last week?
Since he was about 18 months old, I've known that my son was "different." But, aside from fine motor skills and minor speech delays, he was always right on target developmentally. His sensory processing issues were mainly "hypo" not "hyper" so he came across as one of the most laid back kids you could ever meet. He didn't even cry when he was sick or got shots. However, with my strong background in early childhood development, I knew that wasn't normal. Eventually I quit bringing up my concerns because I was always answered with, "He's fine."
It made me want to scream, "I know he's fine!!!" But, I also knew on some levels he struggled and those struggles would just get harder over time.
This boy of mine functions on a highly "normal" level and he has the biggest heart. Almost everyone who knows him adores him and he is well liked by his peers. Which is why I got crazy looks from teachers when I voiced concerns about him, socially. Sure, he gets along with everyone and is liked, but he doesn't seem to really make close friends. I've seen him many times playing alone on the playground. (But it doesn't bother him at all, so...)
So thankful for a highly intuitive pediatrician, though. After a rough 3rd grade year, academics-wise, we ended up with an ADHD diagnosis and when I finally laid all my concerns on the table for the Dr, he ordered genetic testing. I'd never studied Fragile X, but as I researched it online, I realized my son had a lot if the symptoms, just in a very mild form. So mild that our family and the school personnel were shocked that the test came back positive.
I wasn't. I knew. I got a tad upset when my husband called me at work to share the results, but he said, "We knew this. And this is a good thing because now we'll be better able to help him." And he is right. And, I have a healthy, fully functioning, smart, happy boy. I have no right to be upset!! My only grief is that I know he'll have tough decisions to make about starting his own family.
I feel lost in all the online data right now! Where do we go from here? Should our whole family have testing? My daughters? My sister is considering not having any more children if her 19 month old son has it or if she is a carrier. Will things get worse for him with time?
The 5 days until our next doctors appointments seems like a lifetime away!

Posted via m.livejournal.com.

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Friday, February 27th, 2009
5:47 pm - Life Insurance.

So I recently had a nasty conversation with a life insurance company that denied my son coverage.  They claim their research has proven he has a higher mortality rate.  I've never read that anywhere.  I've contacted his Developmental Specialist to find out what the skinny is on that.  Still waiting to hear back.

What do you all say?

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Friday, November 7th, 2008
11:56 am - In California

If you're in California, you know that the state is in a major crisis. Just recently the state voted to cut funding for Supported Employment programs by 10%. For our program that's a loss of 40 grand per year, for some larger programs its 40 grand a month. If you dont know what supported employment is, its employment for people with disabilities, in the community, with supervisory support from a job coach whether in a "group" or individual basis. The goal is to work toward Individual and fade out the job coaching to minimal or non existant.

Now the state is pushing for a 3% cut over and above that for not just supported employment but for ALL programs. We've been at a rate freeze for 10 years. Some organizations like mine barely pay above minimum wage for job coaches and not much above that for case managers. These cuts will, of course, make those rates of pay go down yet the quality expected to remain the same. It is unreasonable to ask someone to work for 8 dollars an hour to help another human being or, sometimes, four other human beings learn to be independent. It is especially unreasonable when you consider some people get paid more to say "would you like fries with that?"

My son is 8, I am terrified of what California may or may not even have left for services when he becomes an adult. Our children face an extremely uncertain future in a place that does not even consider them to be important enough for support. This, of course, leaves them to the streets or to developmental programs which are nothing more than psych wards, rather than productive members of teh society. The state is helping them become MORE dependent upon revenue from the state, rather than independent of it.

If this appalls you, like it appalls me and you live in california, please tell your assemblyman. Tell them to stop taking away from our children's future. Tell them to stop taking away from the adults that are just struggling to have a good life.

Thank you

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Thursday, August 21st, 2008
8:58 am - New Fragile X blog

Discussing the disorder in general, and also my family's specific story. I'm looking for blogs to add to the blogroll, so if you know of any good ones, please let me know.


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Thursday, July 3rd, 2008
8:42 am - Its the Little things.

1. My son sat through Wall-E all the way to the end. Did not get up, did not get upset, did not get overly excited (though he did get excited). He enjoyed the movie through its entirety.

2. I took my son to the gym yesterday to go in the kids club as we were leaving I asked him to get his backpack and he replied "Okay". This girl, about his age, looked and me and said "he can talk?!" I said "When he wants to, but you should talk to him even if he doesn't". She said "Oh I do." I said "Good, its good for him." She then said goodby to him and he waved.

3. The "Yes please" and "Okay" that has been happening a lot after being asked to do something or asked if he wants something.

4. Turning on the TV to the channel he likes on his own.

5. This morning I told him to give me the hair brush his hair. He didn't see the one that's normally downstairs. He disappeared upstairs and came back with one from his grandmothers room that we don't normally use.

6. Having his own opinion. He's showing me more and more of what he wants and how he wants things.

7. While its annoying for me as an adult, it makes me smile inwardly as a parent when he refuses to get out of bed in the morning because he doesn't wanna get up for school. He pulls the blankets over his head, the pillow. He'll go to my room and climb under the covers to hide. Etc.

8. The "right there" "Right here" and "I don't know" that goes along with most questions.

current mood: content

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Monday, May 5th, 2008
9:15 pm - Hi!

Hi Everyone!

My name is Neha and my younger brother has fragile x.
I have yet to be tested to find out if I am a carrier or not, but I am hoping that this summer I will be able to finally get that done.

I found something that I thought might help spark the community a bit.

This is from postsecret.

I have never have seen a more true secret.


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Saturday, December 22nd, 2007
9:08 pm - I have FX

I'm a 39 yr old male who has Fragile X. All my male cousins have the kind that causes severe retardation. I guess I got lucky.

In my adult life I've felt like a kid most of the time. I guess that's why my wife and I are separated? She wants a divorce :( She said that it feels like living with a ten year old. I thought that perhaps I have some form of autism; but after doing some research; I'm pretty sure that autism "comes with" FX. Does severe depression come with it? I haven't found many case studies that determines whether a FX Adult can live a functional life. I sure feel dysfunctional. Again, my 8 year marriage is over. It saddens me. My therapist thinks I'm disabled (duh!).

I'm a freelance artist. My site is http://mikepaglia.com :) I've heard that autistic people are really good at art.

I also have Dandy Walker Syndrome; which is a whole other story.

Sometimes I wonder if my life is worth it.

I'm glad to have found this community. I hope it stays active.


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Friday, August 3rd, 2007
8:04 pm - Changing diagnosis
her_caelyn I wish people would make up their minds. When my ex first had my son tested his diagnosis was tetrasomy p-18. It was in some paperwork, and then somehow some paperwork a few years later said fragile x syndrome. Now his doctor says he does not have fragile x that he has tetrasomy p-18. I am frustrated that people seem to just keep changing their minds about him like its not a big deal. My parents and I are dealing with some serious behavioral issues with him that have gotten worse over the last 2 months. He has started counseling, and been put on medications for bed wetting and for adhd within the last 2 weeks and his behavior has gone from extremely bad to so bad its like nothing I have ever seen in a kid before, and very physically agressive toward adults. The doctor told my parents that this would get worse as he gets older. He is 10 right now and my dad use to be able to control him somewhat but now he isnt even wanting to listen to him.

I dont know what to do to help him. I feel so helpless because none of the medical stuff is up to me, legally my parents have guardianship of him and soon will have full custody. It really is what is best for him and his brother at this time but it is difficult to not have any say in big decisions like medications or if I get a say to not have anyone listen to me anyway. I just dont know what to do. Sorry guess I just needed to vent somewhere.

Oh and is fragile x a "catch-all phrase" covering tetrasomy p-18 too? That is what someone was telling me today but I dont know.

current mood: sad

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Thursday, June 28th, 2007
1:20 am - in the news... in a sad way.

I'd heard about the death of wrestler Chris Benoit Monday because I work at a newspaper. the name wouldn't have meant anything to be if it weren't for the fact that his theme song was written by my favorite band. as it turned out, it was a murder-suicide, with Benoit having killed first his wife, then his 7-year-old son, before hanging himself.

what throws it into the extra-weird (and relevant to this community) category is that Benoit's son, Daniel, had Fragile X Syndrome.

Both the AJC article and the Associated Press one label Fragile X as "rare," though the AJC then contradicts itself a bit by explaining how common it is.

to me, "rare" implies that few people have heard of it, or that very few people have it. Fragile X doesn't have quite the name recognition of autism, but it IS the most common inherited form of mental retardation -- which makes it far from rare, if you ask me.

(x-posted to asd_families)

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Thursday, June 21st, 2007
8:53 pm - Thank you
her_caelyn Thank you all for being so kind to answer, and I am sorry it has taken me so long to post here. I had a long post written out the other day but before I could finish lj ate it somehow so trying to redo this.

I have 2 boys, they both live with my parents now after living with their dad for several years (that is the long story part). My parents only live about 10 minutes from me, and I go over there several times a week, so it has worked out for the best for the boys I think. The youngest "J" was diagnosed with fragile x years ago. Before that he was diagnosed with tetrasomy p-18, but now his offical diagnosis is fragile x. That is confusing to me because from what I have read on both conditions there is no way a person could have both. I read that one was a broken arm of the chromosome and the other was a missing arm, how can something be broken if its missing? If it were up to me I would have him retested but unfortunately it isnt because of the custody stuff. I dont think it would make any difference really in how things are handled with him now anyway.

My concerns really are that J does not look like he has anything different going on with him upon first meeting him, especially if people dont know about fragile x. His behavior at home can be horrid especially when he doesnt get his way. How am I or my parents suppose to know if this is because of his problems or just because he is 10 and not getting his way? Both boys have also had emotinal problems due to their living situation in the past and my not being able to be there for them so it is just hard to figure out what is what.

They decided to keep him in mainstream classes at school, with speech therapy from the school, and put him in rehab for occupational and physcial therapy. Both at school and at rehab people said he was well behaved and didnt show a lot of the things we had seen at home. Towards the end of the school year all of the sudden he started the same behaviors at school. My mother thinks this means he can control himself since he did for most of the year ...I think he didnt want to be "different" (he is aware of some of his differences but not all) but finally got comfortable enough there that he couldnt hide it anymore.

I am going to stop here since this is so long(and this is the short version lol)

current mood: nervous

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Tuesday, June 5th, 2007
2:49 pm - seems quiet
her_caelyn Hello, I just joined recently and before I go into a whole intro thingy I was wondering if anyone is still here?

current mood: curious

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Tuesday, October 31st, 2006
1:56 pm - Looking for research participants


My name is Katherine Koenig and I am a graduate student and researcher at Case Western Reserve University in Cleveland, OH.

I am conducting a study with individuals with mild or moderate mental retardation who are 16 and over and are diagnosed with Down Syndrome or Fragile X Syndrome. Individuals who participate will take two tests - a test of general cognitive abilities and a computer-based test of simple tasks measuring things like reaction time. I usually test in two sessions, with each session taking about an hour and a half. Each participant will receive two $10 gift certificates to either Blockbuster Video or Target.

This research has received approval from the Case Western Reserve University Institutional Review Board and the Cuyahoga County Board of Mental Retardation and Developmental Disabilities.

This is my last year in graduate school and I am desperate for participants. I am in the Cleveland area, and I am willing to travel all over Ohio, Pennsylvania, Michigan, Indiana, and Kentucky to test Fragile X subjects. I can test at an individual's home - I will come to you. If you live in any of these areas and know an individual 16 or over who is diagnosed with Fragile X, please consider contacting me.

I will also be testing in Chicago on November 10th and 11th. If you live in Chicago and are interested in participating please let me know. My email is kag15_at_case_dot_edu.

Thank you again for your time and consideration. Please feel free to repost this and pass it on to individuals who may be interested. Thanks again.

*Moderator, if you feel this is inappropriate please feel free to remove.*

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Friday, September 29th, 2006
11:59 pm - new here.

Hi all. I am new here. My son is having genetic testing at Stanford in December and one of the things he is being tested for is Fragile X. I think the diagnosis would fit pretty well so for now I thought I would join this community and try to learn some more from those who have been on the front lines.

A little about my son: His name is Ricky. He is almost 11. He was born 7 weeks prematurely with a ruptured bowel and diagnosed with cystic fibrosis, which we have been dealing with just fine. :)

He has always been delayed with his speech and motor skills. He started being agressive around kindergarten and also has poor social skills. His joints are hyperflexible, which has proven to be a great party trick...

He is in a special day class where he receives help for his learning problems and motor skills issues, and gets speech therapy.

Ricky is also a sweet, wonderful boy. Super talkative and low average intelligence. His diagnoses are bipolar-NOS and PDD-NOS but they have never quite fit perfectly. So it'll be interesting to see how his testing turns out.

Ricky is treated with lithium, seroquel, zyprexa, and tenex for his agression and rages.

The rest of us: I am Becky, 33, and am married to Dave, 34, my boys' stepdad. Ricky's brother is Andrew, 8, and their sister (my daughter with Dave) is Misty, 2 months.

I hope to learn a lot from you all, and hear your thoughts on whether Ricky "sounds" like he has Fragile X. I hope this was not too much of an introduction!

current mood: curious

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Sunday, June 4th, 2006
12:50 pm - Educating, not hating.

I made this post to an autism group I'm on, but I thought it might be something to share here as well. It was in response to a mother who spoke of how a woman was reprimanding her child and she told that person her child had autism. The lady responded with an uneducated comment like "I didn't realise he had a problem" the mother responded with "He's not the one with the problem." People on the group praised the mother for that. I didn't think it was appropriate. This is why. I hope you enjoy:

My son does not technically have autism. He has fragile x syndrome with autistic like features. That means that his fragile x symptoms are very similar to that of a child with autism and his IEP, is behaviour therapies, his education is geared as though he were autistic. He lacks many behaviours, but he has enough of them, that it is the best treatment program for him. With that being said...

As parents of children with autism or any disability for that matter is to educate the world, not be in defiance of it. We already know our children are wired differently, differently enough that it makes it difficult for them to operate in society in a way that is socially acceptable. WE know all this. But how can someone else? My son doesn't look any different from any other little boy his age. If you watch him, you would not know that he doesn't talk, that he's a bit different. Not until he acts out or does something that is outside of the norm for society. Therefore, how can we condemn someone that responds badly to our children and their behaviour? We can't, we shouldn't. We should educate them in a way that is appropriate. There are cards that you can purchase from the ASA or from Ebay that you can give to people. The ones I have say this:

"My child has autism. He is nto being naughty and we are not being bad parents for not reprimanding him. Children with autism can often behave in an unpredictable manner because they find it hard to cope with many every day situations. They are quite simply, doing their best. Please be patient."

Then it gives a link to the ASA.

We need to be aware that the public doesn't necesarily understand, but that doesn't make them bad people, it makes them uneducated. Who's going to educated them, if not us? If not our children? Some of our chilren, like my son, have no voice, they do not speak, they cannot educate or tell people what they need to know. I do that for him.

Another thing that we can do is support eachother in public. It is difficult, especially when you're alone. I am a single mother and having help or support isn't always available to me. On at least three sperate occasions that I can think of off the top of my head, someone who was understanding, educated and also a parent came to my rescue publically and I will never forget those women or how they made me feel.

It is not easy our lives. We love our children just the way they are and at the same time we wish their lives were easier. We want to protect them from the evils of the world and its cruelness. Our first reaction is anger to someone who is being rude or discouraging to our children. We just need to remember, if the world is going to change, we are the ones that have to help that happen. Educate everyone you can and help everyone you see that might just need a little extra support.

It starts here, with us and our children.

current mood: determined

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Friday, April 28th, 2006
11:50 pm - a bit of a strange relationship to Fragile X

I am the younger sister of a man with developmental disabilities. When he was maybe ten, shortly after I had been born, he was diagnosed with Fragile X. When I was around twelve, my older sister and I (both "normal") were tested to see if we were carriers. Neither of us were But the strange thing was that my mother was tested at the same time, and she wasn't a carrier either. So they tested my brother again, with a newer test, and found that he didn't in fact have Fragile X (the number of repeats were below the threshold). But he has many of the same symptoms as people with Fragile X, including severe mental retardation, several physical characteristics, behavioral problems. But he's usually very friendly to anyone he meets. FRAXE came up as a possibility, but I don't think he ever got tested, and the characteristics don't seem to fit as well.

We still don't know what my brother has, besides some kind of autism spectrum disorder. I'm twenty-two, not thinking about having kids any time soon, but it still worries me to know that I could be carrying an unknown genetic mutation that had such a severe effect on my brother. When I brought it up to my older sister, she didn't seem concerned. I know that she didn't have as difficult a time growing up with him as I did, so that may explain some of her lack of concern. My brother is a delightful person in a lot of ways, and I am glad that my parents didn't put him in an institution. But I don't think I could raise a child with the same problems that he has. My brother is enough, and my childhood with him is enough.

Maybe I'm incorrect that his condition is due to a genetic mutation. There isn't a history in my family as far as I know, besides one maybe mildly retarded great-aunt. But it seems so similar to Fragile X. So, my family isn't directly affected by Fragile X, but this is the closest that I know to whatever my brother has. I'm not asking for anything really, but you all are probably the ones who most understand my situation, and there is some comfort in that.

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Friday, November 11th, 2005
7:07 pm - intro duc shun

Hi, I'm a special ed teacher of 20years who has had the opportunity to teach two known fragile x students and I've attended a work shop on the same. presently I'm working with middle school Multi disabled students and have a theroy about one of my students. His behavior patterns match. I'm using some of the same theroies as with the two known students and it is working. I love this kid. He has such a warm personality when he gets to know someone. I look forward to gleening any perls of wisdom from this group. I also want to let you know that I refuse to run spell check on my journal entries. I think it stops the flow.

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Friday, October 7th, 2005
6:46 pm - Cross-posted like heck

Hi everyone! My name is Chris and I am an instructional aide at PACE (Pacific Autism Center for Education; www.pacificautism.org). I would very much like to atart working with my student towards him writing poetry. I have seen autism netverse and some of the work there is AMAZING! However, being new to the field, I am unsure how exactly to go about it. I have talked somewhat with my teacher, but wanted other points of view and resources as well. If anyone has any or can point me to some, I will love you forever and name my firstborn after you :-)
More specifically, while I despise cinquains and diamantes and things of that nature as being boring, anti-creative, and actually turning people off of poetry at a young age, I just now thought that an emulation of a poem (basically making a Mad Lib out of it) might be effective to start him down the path. What do ya'll think?

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Monday, October 3rd, 2005
5:31 pm

I am researching fragile X for a science project. I am really confused because a website i visited said that it is a lot like autism. My friends say it isn't anything like that. Could someone give me a scenario, or a common situation for someone living with Fragile X? My neighbor is in her twenties and has down syndrome. She lives a pretty normal life aside from living with her parents, but she has a job and leads her life. Maybe something similar, but with Fragile X.
Thank You

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Tuesday, July 19th, 2005
2:26 pm - About Me...

I'm 23 and living in Philly. My 25 year old brother is fully affected. I was tested Summer 2002 and found out that I am not a carrier. Life has been difficult but rewarding. I have been to the NFXF Conferences since 1998. They are great if anyone can go! That's the major info on me...oh and I've been to a Fragile X Group Meeting when I was in Australia which was pretty cool.

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2:25 pm - Fragile X Awareness Day 7/22

Here is a link to a Press Release about Fragile X Awareness Day.


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