October 31, 2011

the carrier {Fragile X Premutation}

With the diagnosis of Fragile X Syndrome comes the necessity to learn a bit about genetics. After all, it is a genetic disorder. When I reemerged to face society after Grant's diagnosis, I found myself often answering the question, "Fragile what?" I wasn't surprised by this as I hadn't known about the syndrome until I stumbled across it during a late night session of research. Though I was shocked at the limited knowledge specialists around me had on the disorder. 

Large-scale population studies of fragile X still need to be done, but it is clear that this is one of the most common genetic diseases in humans. Most people with fragile X are not yet correctly diagnosed. FRAXA Research Foundation  

Fragile X Syndrome is the number one inherited cause of intellectual disorders and the most common known cause of autism. You'd think with stats like that more people would know about it. Alas, I have discovered that many, like me, find out about Fragile X through a slow, personal and painful experience.

With Grant's diagnosis I learned that I have the Fragile X premutation. I am a carrier.

And I am far from alone.

One in every 259 women are carriers and one in every 800 men are carriers. 

Fragile X can be passed on in a family by individuals who have no apparent signs of this genetic condition. In some families a number of family members appear to be affected, whereas in other families a newly diagnosed individual may be the first family member to exhibit symptoms. The National Fragile X Foundation   

Click here to learn more about how the premutation takes place.)

Possible symptoms of the fragile x premutation include* (text in red are links to more information):
*However, one must note that all, some, or just a couple of those symptoms may be true for a carrier. Each carrier is unique. 

(Click here if you want to learn more about genetic testing for fragile x premutation or Fragile X Syndrome. Both can be detected through simple blood work - you just have to know which test to ask for.)

Personally, for as long as I can remember, I have had to work hard to keep my anxiety in check. Being social didn't come natural to me in my early years (it didn't help that I was bullied in elementary school), I struggled in math, hated loud noises, and adored structure. Also, in middle elementary I began to have, at random times, surges of short-lived prickly pain all over my body (lasting approximately 30 minutes). I sometimes wonder if that is the prerequisite of fibromyalgia... perhaps it is nothing. I guess we'll see. (One has to be careful not to read into things.)

In spite of the struggles listed above, I have always been able to work hard and overcome each obstacle. I learned to love and even find comfort in working with numbers and flourish in the spotlight. I still must make a constant effort to lean on my Savior when dealing with my anxiety but I see that as a good thing. 

Discovering that I have the fragile X premuation did answer a lot of questions I had about some of my difficulties but it definitely does not define me. I am learning to live beyond Fragile X.

 

For more information on this topic, please visit www.nfxf.org (The National Fragile X Foundation) and www.FRAXA.org (FRAXA Research Foundation).



1 comment:

  1. That's so interesting that you can see FX symptoms in yourself, Karen. And wonderful that you can rely on God!

    I want to be one of (I hope many) to tell you this: Fragile X is NOT your fault. I believe there lies within God a "theology of disability." The church needs to adopt this theology in order to speak more relevantly into the lives of those who live with disability in all its varying forms. Having such a theology has really changed the way I view my CP and given me a hard-won peace and acceptance about CP. No one should have to wait 27 years before they learn to start loving themselves. I hope it can be helpful to you as well. Email me if you want more deets.

    You are an amazing woman, wife, mother, and follower of God--WITH a fragile X gene. And you wouldn't be who you are without it. Love you!

    ReplyDelete

October 31, 2011

the carrier {Fragile X Premutation}

With the diagnosis of Fragile X Syndrome comes the necessity to learn a bit about genetics. After all, it is a genetic disorder. When I reemerged to face society after Grant's diagnosis, I found myself often answering the question, "Fragile what?" I wasn't surprised by this as I hadn't known about the syndrome until I stumbled across it during a late night session of research. Though I was shocked at the limited knowledge specialists around me had on the disorder. 

Large-scale population studies of fragile X still need to be done, but it is clear that this is one of the most common genetic diseases in humans. Most people with fragile X are not yet correctly diagnosed. FRAXA Research Foundation  

Fragile X Syndrome is the number one inherited cause of intellectual disorders and the most common known cause of autism. You'd think with stats like that more people would know about it. Alas, I have discovered that many, like me, find out about Fragile X through a slow, personal and painful experience.

With Grant's diagnosis I learned that I have the Fragile X premutation. I am a carrier.

And I am far from alone.

One in every 259 women are carriers and one in every 800 men are carriers. 

Fragile X can be passed on in a family by individuals who have no apparent signs of this genetic condition. In some families a number of family members appear to be affected, whereas in other families a newly diagnosed individual may be the first family member to exhibit symptoms. The National Fragile X Foundation   

Click here to learn more about how the premutation takes place.)

Possible symptoms of the fragile x premutation include* (text in red are links to more information):
*However, one must note that all, some, or just a couple of those symptoms may be true for a carrier. Each carrier is unique. 

(Click here if you want to learn more about genetic testing for fragile x premutation or Fragile X Syndrome. Both can be detected through simple blood work - you just have to know which test to ask for.)

Personally, for as long as I can remember, I have had to work hard to keep my anxiety in check. Being social didn't come natural to me in my early years (it didn't help that I was bullied in elementary school), I struggled in math, hated loud noises, and adored structure. Also, in middle elementary I began to have, at random times, surges of short-lived prickly pain all over my body (lasting approximately 30 minutes). I sometimes wonder if that is the prerequisite of fibromyalgia... perhaps it is nothing. I guess we'll see. (One has to be careful not to read into things.)

In spite of the struggles listed above, I have always been able to work hard and overcome each obstacle. I learned to love and even find comfort in working with numbers and flourish in the spotlight. I still must make a constant effort to lean on my Savior when dealing with my anxiety but I see that as a good thing. 

Discovering that I have the fragile X premuation did answer a lot of questions I had about some of my difficulties but it definitely does not define me. I am learning to live beyond Fragile X.

 

For more information on this topic, please visit www.nfxf.org (The National Fragile X Foundation) and www.FRAXA.org (FRAXA Research Foundation).




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1 comment:

  1. That's so interesting that you can see FX symptoms in yourself, Karen. And wonderful that you can rely on God!

    I want to be one of (I hope many) to tell you this: Fragile X is NOT your fault. I believe there lies within God a "theology of disability." The church needs to adopt this theology in order to speak more relevantly into the lives of those who live with disability in all its varying forms. Having such a theology has really changed the way I view my CP and given me a hard-won peace and acceptance about CP. No one should have to wait 27 years before they learn to start loving themselves. I hope it can be helpful to you as well. Email me if you want more deets.

    You are an amazing woman, wife, mother, and follower of God--WITH a fragile X gene. And you wouldn't be who you are without it. Love you!

    ReplyDelete