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).



October 28, 2011

He believed...

I am finding that there is a big difference between believing in God and believing God.

Do I believe in the God of the Bible?  Yes.

Do I believe He is the one-and-only true God?  Yes.

Do I take God at His word?  Hmmm... I'd like to think I do, however my thoughts and actions often portray that I don't. I want to, but sometimes I struggle to believe God's promises.

And Jesus said to him, “‘If you can’! All things are possible for one who believes.” Immediately the father of the child cried out and said, “I believe; help my unbelief!” Mark 9:23-24

I'm nothing like Abraham. The book of Genesis tells the amazing story of a man who was told by God to get up and move his whole family. God didn't tell him where to go - He just told him to get moving. And Abraham (then named Abram) did. God also told Abraham to take his son, Isaac, and sacrifice him... the son Abraham had hoped and prayed for and finally got in his old age - his beloved son. Without questioning, Abraham prepared to do so (an incredible story with an even more incredible ending... click here to read it). 

Even so Abraham believed God, and it was reckoned to him as righteousness. Galatians 3:6

God has told me to travel a certain path and, unlike Abraham, I have kicked and screamed and questioned God the whole way. I have begged and bargained with God to "leave my son out of it". (Trust me, I am not proud of some of the things I have thought and said to God.) But God has been patient with me. He wants me to believe. He aches for me to believe. He created me to believe.

But it is up to me. I must choose to believe. 

 Now faith is the assurance of things hoped for, the conviction of things not seen. Hebrews 11:1



By faith Abraham obeyed when he was called to go out to a place that he was to receive as an inheritance. And he went out, not knowing where he was going.  

By faith he went to live in the land of promise, as in a foreign land, living in tents with Isaac and Jacob, heirs with him of the same promise. For he was looking forward to the city that has foundations, whose designer and builder is God.  

By faith Sarah herself received power to conceive, even when she was past the age, since she considered him faithful who had promised. Therefore from one man, and him as good as dead, were born descendants as many as the stars of heaven and as many as the innumerable grains of sand by the seashore.

By faith Abraham, when he was tested, offered up Isaac, and he who had received the promises was in the act of offering up his only son. Hebrews 11:8-12, 17


October 26, 2011

Memories {October 2011}

Random snapshots from October...


Leaning in for a kiss...

...Gotcha!

   
       Fascinated by the sight and sound of Daddy mowing the lawn

       


 
Like a slow stroll down a country road with a long-time friend, my mom's visit has been good for my heart.
There is nothing like a mother's love.


October 21, 2011

Perspective: coincidence or providence?

For about a week Grant has not been sleeping well - again. It usually takes him awhile to fall asleep at night but that isn't what bothers me. What bothers me is the not sleeping through the night. Sleeplessness is a common problem for children who have Fragile X Syndrome (click here to read the post Fragile X Syndrome and Sleep).

The effects of Grant not sleeping through the night reach far into everyone's day. To put it simply, we are all tired and miserable and it is hard to accomplish the necessary therapies. More than that, it greatly increases Grant's anxiety level and makes him very out-of-sorts. It is not a little problem.

After several days of Grant sleeping very fitfully, I was beginning to feel physically sick and overwhelmed. We had run out of a supplement that helps Grant relax and aids his ability to sleep through the night. And we would not be able to place a new order for a few more days. As I put Grant to bed Wednesday evening, I braced myself for another sleepless night... but he didn't wake up that night. When I awoke, I stared in disbelief at the time on my bedside clock. Had Grant really slept through the night?!? As elated as I was, I quickly forgot about the wonderful gift of sleep we all had received as the demands of the day kicked into full gear.

Until...

Later that day I received a phone call from my mother-in-law asking specifically about Grant and his sleep. After relaying that he had slept through the night for the first time in days, she told me that her Bible study had spent time in prayer for Grant and his sleep.

I paused. Was it a coincidence that the very night a group of prayer warriors prayed for my son to sleep through the night was the first night in over a week that he did?

Looking back over my life you could say there are a lot of "coincidences". One example: How in the world did a communications major (who supposedly hated math) end up working in the field of budgeting, grant evaluations, spreadsheets, and data reporting (and LOVED it)? That job placed me right in the middle of a department of early intervention specialists who worked with children with developmental delays. I gleaned so much information from them that when Grant was born I was able to notice many of the delays very early.

Coincidence? I think not. I see God's hand in it all. To those who follow this blog, it is no secret that I am still dealing with the pain of Grant's diagnosis - the selfish pain of lost dreams and the paralyzing fear of his future. But when I witness God's providence orchestrating my life and Grant's life, I am humbled and very aware that I am not in control.

It is a matter of perspective. It is a matter of belief.

It is a matter of faith.



October 19, 2011

Pumpkin Patch 2011

Every year we anticipate our pumpkin patch trip to a local family farm nestled within the city of Charlotte. It was a beautiful, warm evening to walk along the patches, look at the animals, and attempt a family picture.

 
 
 



 

       


October 13, 2011

What's in a name?

... That which we call a rose by any other name would smell as sweet. {from Shakespeare's Romeo and Juliet}

Just like most parents, Aaron and I poured over books and lists trying to agree on names for our sons. Each time, after battling back and forth for months, we finally came to an agreement. We love their names. They each have special meanings to us. However, it didn't take long before a list of frequently used nicknames became their aliases...


  
Grant 
also known as:

Grant-man
Number One
Mr. Grant
Grant-a-roo




Wesley 
also known as:

Wester-boo
Number Two
Silly Face
Stinkerdoodle
Half Pint


October 12, 2011

Welcoming Autumn - Dying to Self

I shutter and pull my sweater tightly around me. At first encounter the crisp morning air takes my breath away. It feels good. I find healing in the turning leaves. My body is aching for a rest while my soul is ready for a revival.


I yearn to cast aside my old self but I am still hesitant to accept the pain it involves.
I am being pruned and it hurts.


 The Master is hard at work and I must surrender.




It is time for me to stop looking back at my old dreams. 
I must turn my focus forward and take the next step.

It is time to move on.


But how?


I am the true vine, and My Father is the vinedresser. Every branch in Me that does not bear fruit, He takes away; and every branch that bears fruit, He prunes it so that it may bear more fruit. You are already clean because of the word which I have spoken to you. Abide in Me, and I in you. As the branch cannot bear fruit of itself unless it abides in the vine, so neither can you unless you abide in Me. 

I am the vine, you are the branches; he who abides in Me and I in him, he bears much fruit, for apart from Me you can do nothing. If anyone does not abide in Me, he is thrown away as a branch and dries up; and they gather them, and cast them into the fire and they are burned. If you abide in Me, and My words abide in you, ask whatever you wish, and it will be done for you. 

My Father is glorified by this, that you bear much fruit, and so prove to be My disciples. Just as the Father has loved Me, I have also loved you; abide in My love. If you keep My commandments, you will abide in My love; just as I have kept My Father’s commandments and abide in His love. These things I have spoken to you so that My joy may be in you, and that your joy may be made full.   

John 15:1-11

October 7, 2011

Beauty in the ordinary

Since my son's diagnosis I have gone through the many phases of grieving - a process, some days, I feel I will never get through. But in the moments when my eyes are dry and my vision is clearly set on One who provides hope, I able find extreme beauty in the ordinary.

I crave ordinary.

I wouldn't say that my day-to-day life is "normal" compared to many but there are pockets of moments when I mentally pause time to savor the sweetness of watching my boys play together, take in the aroma of dinner cooking on the stove, and listen to my husband read Grant's favorite book for the 10th time in a row after he has had a long day at work. 

I've made it a daily goal to find beauty and joy in the life I was purposed to live...

... to find beauty in the ordinary - in my ordinary.

 

The day that each person willingly accepts himself or herself for who he or she is and acknowledges the uniqueness of God's framing process marks the beginning of a journey to seeing the handiwork of God in each life.  
~ Ravi Zacharias {from the book Grand Weaver: How God shapes us through the events of our lives}


.....................

This post was written as part of Five Minute Friday. Check it out and join us!

October 5, 2011

A time to refresh

After Grant's appointment at the Duke Fragile X Clinic, we continued on to Wilmington to unwind, enjoy some quality time with family, and celebrate Aaron's Dad's 60th birthday. A couple days of sun, sand, rolling waves, and encouraging company does a lot for the soul.

The Aquarium


 

 


The Beach






 
 











 


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).




Pin It

October 28, 2011

He believed...

I am finding that there is a big difference between believing in God and believing God.

Do I believe in the God of the Bible?  Yes.

Do I believe He is the one-and-only true God?  Yes.

Do I take God at His word?  Hmmm... I'd like to think I do, however my thoughts and actions often portray that I don't. I want to, but sometimes I struggle to believe God's promises.

And Jesus said to him, “‘If you can’! All things are possible for one who believes.” Immediately the father of the child cried out and said, “I believe; help my unbelief!” Mark 9:23-24

I'm nothing like Abraham. The book of Genesis tells the amazing story of a man who was told by God to get up and move his whole family. God didn't tell him where to go - He just told him to get moving. And Abraham (then named Abram) did. God also told Abraham to take his son, Isaac, and sacrifice him... the son Abraham had hoped and prayed for and finally got in his old age - his beloved son. Without questioning, Abraham prepared to do so (an incredible story with an even more incredible ending... click here to read it). 

Even so Abraham believed God, and it was reckoned to him as righteousness. Galatians 3:6

God has told me to travel a certain path and, unlike Abraham, I have kicked and screamed and questioned God the whole way. I have begged and bargained with God to "leave my son out of it". (Trust me, I am not proud of some of the things I have thought and said to God.) But God has been patient with me. He wants me to believe. He aches for me to believe. He created me to believe.

But it is up to me. I must choose to believe. 

 Now faith is the assurance of things hoped for, the conviction of things not seen. Hebrews 11:1



By faith Abraham obeyed when he was called to go out to a place that he was to receive as an inheritance. And he went out, not knowing where he was going.  

By faith he went to live in the land of promise, as in a foreign land, living in tents with Isaac and Jacob, heirs with him of the same promise. For he was looking forward to the city that has foundations, whose designer and builder is God.  

By faith Sarah herself received power to conceive, even when she was past the age, since she considered him faithful who had promised. Therefore from one man, and him as good as dead, were born descendants as many as the stars of heaven and as many as the innumerable grains of sand by the seashore.

By faith Abraham, when he was tested, offered up Isaac, and he who had received the promises was in the act of offering up his only son. Hebrews 11:8-12, 17



Pin It

October 26, 2011

Memories {October 2011}

Random snapshots from October...


Leaning in for a kiss...

...Gotcha!

   
       Fascinated by the sight and sound of Daddy mowing the lawn

       


 
Like a slow stroll down a country road with a long-time friend, my mom's visit has been good for my heart.
There is nothing like a mother's love.



Pin It

October 21, 2011

Perspective: coincidence or providence?

For about a week Grant has not been sleeping well - again. It usually takes him awhile to fall asleep at night but that isn't what bothers me. What bothers me is the not sleeping through the night. Sleeplessness is a common problem for children who have Fragile X Syndrome (click here to read the post Fragile X Syndrome and Sleep).

The effects of Grant not sleeping through the night reach far into everyone's day. To put it simply, we are all tired and miserable and it is hard to accomplish the necessary therapies. More than that, it greatly increases Grant's anxiety level and makes him very out-of-sorts. It is not a little problem.

After several days of Grant sleeping very fitfully, I was beginning to feel physically sick and overwhelmed. We had run out of a supplement that helps Grant relax and aids his ability to sleep through the night. And we would not be able to place a new order for a few more days. As I put Grant to bed Wednesday evening, I braced myself for another sleepless night... but he didn't wake up that night. When I awoke, I stared in disbelief at the time on my bedside clock. Had Grant really slept through the night?!? As elated as I was, I quickly forgot about the wonderful gift of sleep we all had received as the demands of the day kicked into full gear.

Until...

Later that day I received a phone call from my mother-in-law asking specifically about Grant and his sleep. After relaying that he had slept through the night for the first time in days, she told me that her Bible study had spent time in prayer for Grant and his sleep.

I paused. Was it a coincidence that the very night a group of prayer warriors prayed for my son to sleep through the night was the first night in over a week that he did?

Looking back over my life you could say there are a lot of "coincidences". One example: How in the world did a communications major (who supposedly hated math) end up working in the field of budgeting, grant evaluations, spreadsheets, and data reporting (and LOVED it)? That job placed me right in the middle of a department of early intervention specialists who worked with children with developmental delays. I gleaned so much information from them that when Grant was born I was able to notice many of the delays very early.

Coincidence? I think not. I see God's hand in it all. To those who follow this blog, it is no secret that I am still dealing with the pain of Grant's diagnosis - the selfish pain of lost dreams and the paralyzing fear of his future. But when I witness God's providence orchestrating my life and Grant's life, I am humbled and very aware that I am not in control.

It is a matter of perspective. It is a matter of belief.

It is a matter of faith.




Pin It

October 19, 2011

Pumpkin Patch 2011

Every year we anticipate our pumpkin patch trip to a local family farm nestled within the city of Charlotte. It was a beautiful, warm evening to walk along the patches, look at the animals, and attempt a family picture.

 
 
 



 

       



Pin It

October 13, 2011

What's in a name?

... That which we call a rose by any other name would smell as sweet. {from Shakespeare's Romeo and Juliet}

Just like most parents, Aaron and I poured over books and lists trying to agree on names for our sons. Each time, after battling back and forth for months, we finally came to an agreement. We love their names. They each have special meanings to us. However, it didn't take long before a list of frequently used nicknames became their aliases...


  
Grant 
also known as:

Grant-man
Number One
Mr. Grant
Grant-a-roo




Wesley 
also known as:

Wester-boo
Number Two
Silly Face
Stinkerdoodle
Half Pint



Pin It

October 12, 2011

Welcoming Autumn - Dying to Self

I shutter and pull my sweater tightly around me. At first encounter the crisp morning air takes my breath away. It feels good. I find healing in the turning leaves. My body is aching for a rest while my soul is ready for a revival.


I yearn to cast aside my old self but I am still hesitant to accept the pain it involves.
I am being pruned and it hurts.


 The Master is hard at work and I must surrender.




It is time for me to stop looking back at my old dreams. 
I must turn my focus forward and take the next step.

It is time to move on.


But how?


I am the true vine, and My Father is the vinedresser. Every branch in Me that does not bear fruit, He takes away; and every branch that bears fruit, He prunes it so that it may bear more fruit. You are already clean because of the word which I have spoken to you. Abide in Me, and I in you. As the branch cannot bear fruit of itself unless it abides in the vine, so neither can you unless you abide in Me. 

I am the vine, you are the branches; he who abides in Me and I in him, he bears much fruit, for apart from Me you can do nothing. If anyone does not abide in Me, he is thrown away as a branch and dries up; and they gather them, and cast them into the fire and they are burned. If you abide in Me, and My words abide in you, ask whatever you wish, and it will be done for you. 

My Father is glorified by this, that you bear much fruit, and so prove to be My disciples. Just as the Father has loved Me, I have also loved you; abide in My love. If you keep My commandments, you will abide in My love; just as I have kept My Father’s commandments and abide in His love. These things I have spoken to you so that My joy may be in you, and that your joy may be made full.   

John 15:1-11


Pin It

October 7, 2011

Beauty in the ordinary

Since my son's diagnosis I have gone through the many phases of grieving - a process, some days, I feel I will never get through. But in the moments when my eyes are dry and my vision is clearly set on One who provides hope, I able find extreme beauty in the ordinary.

I crave ordinary.

I wouldn't say that my day-to-day life is "normal" compared to many but there are pockets of moments when I mentally pause time to savor the sweetness of watching my boys play together, take in the aroma of dinner cooking on the stove, and listen to my husband read Grant's favorite book for the 10th time in a row after he has had a long day at work. 

I've made it a daily goal to find beauty and joy in the life I was purposed to live...

... to find beauty in the ordinary - in my ordinary.

 

The day that each person willingly accepts himself or herself for who he or she is and acknowledges the uniqueness of God's framing process marks the beginning of a journey to seeing the handiwork of God in each life.  
~ Ravi Zacharias {from the book Grand Weaver: How God shapes us through the events of our lives}


.....................

This post was written as part of Five Minute Friday. Check it out and join us!

Pin It

October 5, 2011

A time to refresh

After Grant's appointment at the Duke Fragile X Clinic, we continued on to Wilmington to unwind, enjoy some quality time with family, and celebrate Aaron's Dad's 60th birthday. A couple days of sun, sand, rolling waves, and encouraging company does a lot for the soul.

The Aquarium


 

 


The Beach






 
 











 



Pin It