February 23, 2011

The Diagnosis

As I parked my car in front of Carolina Neurological Clinic, a wave of nausea washed over me. I'm not sure why. I already knew the truth. A day earlier I had gotten the call from the neurologist's office saying that Grant's Fragile X genetic test had come back with abnormalities and the doctor wanted to meet with us ASAP. Translation: Grant has Fragile X Syndrome. (Click here to read a previous post for more details. You can also visit the National Fragile X Foundation website to find out more about the syndrome.)

When Aaron and I met with Grant's neurologist, she sat down, opened up Grant's file, looked up and announced that Grant has Fragile X Syndrome. We merely nodded knowingly and waited for her to say more. But she didn't. There was nothing more to say. Her job was done (aside from the 2 hour sleep deprived EEG that will be conducted tomorrow morning). Instead, she stated she was going to contact our geneticist to move our appointment up from August 11th to an earlier date. There is a very long wait list to meet with a geneticist (about 9 months), but if you have a diagnosis - especially one of Grant's magnitude - they try to fit you in earlier. It is the geneticist who will answer all of our questions and guide us through our new reality.

Our new reality. It's a scary one full of even more questions, testing, and waiting. How far will Grant develop? How high is his IQ? (Just like many disorders, Fragile X Syndrome has a spectrum. Unfortunately, statistically speaking, the highest IQ for a high-functioning FX boy is about 80. Not good. It is borderline mentally impaired/low normal. This reality crushes me the most. I can scarcely think about it before breaking down into tears.) Will Grant ever live on his own or have a job? How will we pay for all the therapy and testing he needs? Who will take care of him when we are gone? Oh the uncertainty and pain!

While I don't have answers to any of the questions, I do know that Grant's Maker knows it all and has promised to be with us each step of the way. We will just take it one day at a time and continue to ask God for grace, peace, wisdom, and a miracle.

Please pray specifically for:
  • peace as Aaron and I come to terms with our new reality.
  • God to be glorified and to find comfort in His sovereignty.
  • wisdom: I feel like I'm stumbling along trying to figure out what to do next. (ie: How do I go about filing for financial assistance? What paperwork should I complete? How do I ramp up Grant's services? How do I know what will now be covered by our health insurance?) I am praying that God will put someone in my path that can help me figure all of this out.
  • Wesley: most likely the geneticist will want our second son to be tested for Fragile X. While Wesley is currently hitting all of his milestones, we are holding our breath and praying that he does not have the syndrome.
Hear my cry, O God; give heed to my prayer. From the end of the earth I call to You when my heart is faint; lead me to the rock that is higher than I. For You have been a refuge for me, a tower of strength against the enemy. Let me dwell in Your tent forever; let me take refuge in the shelter of Your wings. Psalm 61:1-4

15 comments:

  1. You are covered in prayer, my friend.

    ReplyDelete
  2. Thank you for the update Karen. We are praying for all of the Mayes. I will join you in God placing someone in your path to guide during this uncertain time.

    ReplyDelete
  3. Karen, check this out:
    http://www.fragilex.org/html/new_family.htm
    and I'll alert the Facebook FX group about you.... comfort, advice, hugs, love, and prayers all headed your way in droves!

    ReplyDelete
  4. karen- i am lifting you up in prayer... I am the mom of an amazing 6 year old with FX. Please know that you are not alone- those first few months with a new diagnosis are so hard, please join the FX listserv or find us on facebook.
    hugs to you, momma.
    amy in IL
    Abraham 6 fx
    Bohdan 4
    Aurelia- almost 1 :)

    ReplyDelete
  5. Angie Barrett GrantmanFebruary 24, 2011 at 6:56 PM

    Karen, I have been where you are and am happy to say.....you may not realize it now, but you have indeed been blessed. God chose you for this journey and it will be a challenge, but it will also bring you unimaginable joy. You are not alone. I found your blog because someone posted it on our Fragile X group page on Facebook. That group has almost 300 parents who share daily and give each other support and advice. I have a 24 year old daughter who was not affected and not a carrier. My son is 17 and he was severely affected. He can put a smile on anyone's face....he is the most kind and compassionate teenager I have ever known. He has gifts to give the world beyond his IQ. I will pray for your family...that you may find peace and comfort with your new reality. I have recently began blogging and would invite you to read mine and locate the Fragile X Webring on my page. It will take you from one parent to the next who write about their journey. Blessings to you and yours. Angie

    The X Factor After Little Becomes Big
    angiegrantman.blogspot.com

    ReplyDelete
  6. Hi Karen, Nice to meet you. Our 3 boys, 19, 17, and 4 are all affected by fx. It's been an amazing journey. Praying for your family.

    ReplyDelete
  7. Karen, you will get through this! I feel my extended Fragile X family is the best group I never chose to join. Many of us are so comforted and supported by each other. Join us on Facebook, My Fragile X Community (fragilex.org) and/or the FRAXA.org/Fragile X family listserv.

    Love,
    Mary Beth
    Mom to Andrew (age 10; FX & autism; dxed at age 21 mos)
    Michigan
    mblangan@hotmail.com

    ReplyDelete
  8. Karen, your heart of trust is beautiful! Praying for you as you carry this news before the throne and hear the Lord's heart for your family.

    Please know if there's anything I can do for you guys, I'm just up the road!

    ~Sam

    ReplyDelete
  9. Dear Karen,
    It's funny, I found a journal entry the other day. It was about the discovery of my son's diagnosis of Fragile X. That was only three years ago, but it seems so much longer ago. As I read it, I remembered the feelings of despair. The almost suffocating bewilderment of the moment is still palpable. HOWEVER, God is so, so good, and I could tell you story after story of how God has used my son for His glory. The last three years have been full of hope, love, laughter. Take it one day at a time. One book that I think you would find helpful right now is "Fragile X, Fragile Hope." I believe you can find it on Amazon.

    Many, many hugs,
    Meg

    ReplyDelete
  10. You are chosen and God will give you all the strength, peace and hope required. Prayers constantly going up for you and your family. Never doubt that!

    ReplyDelete
  11. Marco and I just stopped and prayed for you all! What you are facing is bigger than you can handle but not to big for our Great God! May He be your only source of comfort and peace. I have you guys on my prayer list above my kitchen sink and pray for you every day! Love in Christ, Shannon Lehmer

    ReplyDelete
  12. I am crying as I write this. It brings back fresh emotions from when we received Jill's diagnosis of cerebral palsy. I asked all those same questions.

    We have a God who cares and doesn't look at statistics. He can do far more than any diagnosis. He will be there for you, closer than you have ever known. Grant will be a blessing.

    ReplyDelete
  13. Hi Karen,

    My name is Becky. My youngest son, Avery, has Fragile X Syndrome as well. We found out when he was 16 months old, he just turned 3.

    My heart aches for you, I know exactly how painful this is. You will have good days, and will have bad days. Our Lord is with you always, find your comfort there.

    As far as what you need to do... 1)Get hooked up with a birth to 3 program. These programs are federally funded. They will pay for whatever services your child needs that your insurance won't cover. 2) Educate yourself about IDEA, FAPE, IEP, LRE. These are all terms that you will need and want to know before your sweet boy turns 3. At age 3, your public school district is required (by federal law) to provide a Free and Appropriate Public Education (FAPE), including whatever necessary therapies.

    I don't want to overload you, so I will stop here. If you need anything, or have more questions, feel free to email me. rlbjb22@yahoo.com

    Good luck to you and may our Lord give you some peace.

    Sincerely,
    Becky

    ReplyDelete
  14. I'll pray for your family. Relay on God's strength, love, and comfort.

    ReplyDelete
  15. Wow. This brings back memories. My son is now 23 years old. He is doing great. He is such a blessing to us. The hardest part for me was the not being able to have more children part. You have a good attitude. As you leave it in God's hands, things will work out. All the best.

    ReplyDelete

February 23, 2011

The Diagnosis

As I parked my car in front of Carolina Neurological Clinic, a wave of nausea washed over me. I'm not sure why. I already knew the truth. A day earlier I had gotten the call from the neurologist's office saying that Grant's Fragile X genetic test had come back with abnormalities and the doctor wanted to meet with us ASAP. Translation: Grant has Fragile X Syndrome. (Click here to read a previous post for more details. You can also visit the National Fragile X Foundation website to find out more about the syndrome.)

When Aaron and I met with Grant's neurologist, she sat down, opened up Grant's file, looked up and announced that Grant has Fragile X Syndrome. We merely nodded knowingly and waited for her to say more. But she didn't. There was nothing more to say. Her job was done (aside from the 2 hour sleep deprived EEG that will be conducted tomorrow morning). Instead, she stated she was going to contact our geneticist to move our appointment up from August 11th to an earlier date. There is a very long wait list to meet with a geneticist (about 9 months), but if you have a diagnosis - especially one of Grant's magnitude - they try to fit you in earlier. It is the geneticist who will answer all of our questions and guide us through our new reality.

Our new reality. It's a scary one full of even more questions, testing, and waiting. How far will Grant develop? How high is his IQ? (Just like many disorders, Fragile X Syndrome has a spectrum. Unfortunately, statistically speaking, the highest IQ for a high-functioning FX boy is about 80. Not good. It is borderline mentally impaired/low normal. This reality crushes me the most. I can scarcely think about it before breaking down into tears.) Will Grant ever live on his own or have a job? How will we pay for all the therapy and testing he needs? Who will take care of him when we are gone? Oh the uncertainty and pain!

While I don't have answers to any of the questions, I do know that Grant's Maker knows it all and has promised to be with us each step of the way. We will just take it one day at a time and continue to ask God for grace, peace, wisdom, and a miracle.

Please pray specifically for:
  • peace as Aaron and I come to terms with our new reality.
  • God to be glorified and to find comfort in His sovereignty.
  • wisdom: I feel like I'm stumbling along trying to figure out what to do next. (ie: How do I go about filing for financial assistance? What paperwork should I complete? How do I ramp up Grant's services? How do I know what will now be covered by our health insurance?) I am praying that God will put someone in my path that can help me figure all of this out.
  • Wesley: most likely the geneticist will want our second son to be tested for Fragile X. While Wesley is currently hitting all of his milestones, we are holding our breath and praying that he does not have the syndrome.
Hear my cry, O God; give heed to my prayer. From the end of the earth I call to You when my heart is faint; lead me to the rock that is higher than I. For You have been a refuge for me, a tower of strength against the enemy. Let me dwell in Your tent forever; let me take refuge in the shelter of Your wings. Psalm 61:1-4


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15 comments:

  1. You are covered in prayer, my friend.

    ReplyDelete
  2. Thank you for the update Karen. We are praying for all of the Mayes. I will join you in God placing someone in your path to guide during this uncertain time.

    ReplyDelete
  3. Karen, check this out:
    http://www.fragilex.org/html/new_family.htm
    and I'll alert the Facebook FX group about you.... comfort, advice, hugs, love, and prayers all headed your way in droves!

    ReplyDelete
  4. karen- i am lifting you up in prayer... I am the mom of an amazing 6 year old with FX. Please know that you are not alone- those first few months with a new diagnosis are so hard, please join the FX listserv or find us on facebook.
    hugs to you, momma.
    amy in IL
    Abraham 6 fx
    Bohdan 4
    Aurelia- almost 1 :)

    ReplyDelete
  5. Angie Barrett GrantmanFebruary 24, 2011 at 6:56 PM

    Karen, I have been where you are and am happy to say.....you may not realize it now, but you have indeed been blessed. God chose you for this journey and it will be a challenge, but it will also bring you unimaginable joy. You are not alone. I found your blog because someone posted it on our Fragile X group page on Facebook. That group has almost 300 parents who share daily and give each other support and advice. I have a 24 year old daughter who was not affected and not a carrier. My son is 17 and he was severely affected. He can put a smile on anyone's face....he is the most kind and compassionate teenager I have ever known. He has gifts to give the world beyond his IQ. I will pray for your family...that you may find peace and comfort with your new reality. I have recently began blogging and would invite you to read mine and locate the Fragile X Webring on my page. It will take you from one parent to the next who write about their journey. Blessings to you and yours. Angie

    The X Factor After Little Becomes Big
    angiegrantman.blogspot.com

    ReplyDelete
  6. Hi Karen, Nice to meet you. Our 3 boys, 19, 17, and 4 are all affected by fx. It's been an amazing journey. Praying for your family.

    ReplyDelete
  7. Karen, you will get through this! I feel my extended Fragile X family is the best group I never chose to join. Many of us are so comforted and supported by each other. Join us on Facebook, My Fragile X Community (fragilex.org) and/or the FRAXA.org/Fragile X family listserv.

    Love,
    Mary Beth
    Mom to Andrew (age 10; FX & autism; dxed at age 21 mos)
    Michigan
    mblangan@hotmail.com

    ReplyDelete
  8. Karen, your heart of trust is beautiful! Praying for you as you carry this news before the throne and hear the Lord's heart for your family.

    Please know if there's anything I can do for you guys, I'm just up the road!

    ~Sam

    ReplyDelete
  9. Dear Karen,
    It's funny, I found a journal entry the other day. It was about the discovery of my son's diagnosis of Fragile X. That was only three years ago, but it seems so much longer ago. As I read it, I remembered the feelings of despair. The almost suffocating bewilderment of the moment is still palpable. HOWEVER, God is so, so good, and I could tell you story after story of how God has used my son for His glory. The last three years have been full of hope, love, laughter. Take it one day at a time. One book that I think you would find helpful right now is "Fragile X, Fragile Hope." I believe you can find it on Amazon.

    Many, many hugs,
    Meg

    ReplyDelete
  10. You are chosen and God will give you all the strength, peace and hope required. Prayers constantly going up for you and your family. Never doubt that!

    ReplyDelete
  11. Marco and I just stopped and prayed for you all! What you are facing is bigger than you can handle but not to big for our Great God! May He be your only source of comfort and peace. I have you guys on my prayer list above my kitchen sink and pray for you every day! Love in Christ, Shannon Lehmer

    ReplyDelete
  12. I am crying as I write this. It brings back fresh emotions from when we received Jill's diagnosis of cerebral palsy. I asked all those same questions.

    We have a God who cares and doesn't look at statistics. He can do far more than any diagnosis. He will be there for you, closer than you have ever known. Grant will be a blessing.

    ReplyDelete
  13. Hi Karen,

    My name is Becky. My youngest son, Avery, has Fragile X Syndrome as well. We found out when he was 16 months old, he just turned 3.

    My heart aches for you, I know exactly how painful this is. You will have good days, and will have bad days. Our Lord is with you always, find your comfort there.

    As far as what you need to do... 1)Get hooked up with a birth to 3 program. These programs are federally funded. They will pay for whatever services your child needs that your insurance won't cover. 2) Educate yourself about IDEA, FAPE, IEP, LRE. These are all terms that you will need and want to know before your sweet boy turns 3. At age 3, your public school district is required (by federal law) to provide a Free and Appropriate Public Education (FAPE), including whatever necessary therapies.

    I don't want to overload you, so I will stop here. If you need anything, or have more questions, feel free to email me. rlbjb22@yahoo.com

    Good luck to you and may our Lord give you some peace.

    Sincerely,
    Becky

    ReplyDelete
  14. I'll pray for your family. Relay on God's strength, love, and comfort.

    ReplyDelete
  15. Wow. This brings back memories. My son is now 23 years old. He is doing great. He is such a blessing to us. The hardest part for me was the not being able to have more children part. You have a good attitude. As you leave it in God's hands, things will work out. All the best.

    ReplyDelete