Today was another trip for us back to see Libi's Geneticist. It was a very educational visit. I felt like I was back in high school biology class with Mr. Perron! Some years of maturity with this particular lesson helped me to appreciate what I was learning.
Our bodies, designed by the Perfect Creator God, are so complex, and so amazing! I couldn't help but be in awe of the ability that God has given man to pinpoint such details in us. The chromosome...so small, but holds so much of what makes us who we are. As I shared before, Libi has some unique issues with her chromosomes. Number 4 chromosome is deficient, and number 11 is duplicated. Actually the part of 4 that is missing is quite minor and seems to affect more her physical make up; small hands, feet, head, her heart defect and also affects speech. It is found with a deficiency in chromosome 4 language function often lags behind cognitive ability. This makes so much sense to us. We always say that Libi "gets it".
Her chromosome 11 has duplicated part of itself and attached to chromosome 4. This makes life a bit more challenging for Libi. This is what brings about her developmental delay and seizures. It is a very unique finding. Libi has significant duplication of chromosome 11.
Medical terms:
Deletion 4q35.1
Monosomy 4q35
Terminal 4q deletion
Duplication 11q22.3
Trisomy 11q22 ter
Terminal duplication 11q22
(I understand that means nothing to most people, but wanted it out there for anyone who might search and come across Libi.)
What does it mean?
Brad and I first wanted to clarify the diagnosis mental retardation. For Libi she cannot officially carry that diagnosis, because her IQ level cannot be adequately assessed until about age 5. For now, she is diagnosed as developmentally delayed. Anyone who has an IQ below 70 is diagnosed as mentally retarded. It's such a funny term to us. I have discussed it before, but it seems to carry this stigma. I will once again quote Joel..."she doesn't seem mental."
The great thing is that we now have a definitive answer for her challenges. We know that she does not have a brain injury. That has been such a huge question mark for us since the day we brought her home. You just want to know what is wrong with your child. We have never had a real concrete diagnosis. The diagnosis’s that we have been given were incorrect. I want to encourage parents that you know your child best. You have to advocate. You have to follow the Holy Spirit's voice. I have had this nagging feeling that we were missing something with Libi. It's not that it really changes anything we are doing with her, but to us it means so much.
Our Amazing God, has revealed this marvelous mystery about Libi and we believe that He has revealed it to move us on toward healing! The doctor was very encouraging. He expressed how Libi has already made new connections and pathways in her brain to compensate. He explained to us how pliable her little brain is. She has not regressed, or hit a plateau in her development. The doctor did express that she will have delays and challenges. We will continue to press on with intervention and therapy and watch what the Lord will do in her.
As we drove home yesterday Brad shared how it struck him that this is how God formed her. The challenges she faces are not due to a brain trauma from any particular circumstance. She faces these challenges due to the exact way He molded her sweet little frame inside her mama's womb! How we praise Him...the Maker and Creator of our unique and wonderful little Libi love!!
Psalm 139
13-16 Oh yes, you shaped Libi first inside, then out;
you formed her in her mother's womb.
I thank you, High God—you're breathtaking!
Body and soul, She is marvelously made!
I worship in adoration—what a creation!
You know her inside and out,
you know every bone in her body;
You know exactly how she was made, bit by bit,
how she was sculpted from nothing into something.
Like an open book, you watched her grow from conception to birth;
all the stages of her life were spread out before you,
The days of her life all prepared
before she'd even lived one day.
Our bodies, designed by the Perfect Creator God, are so complex, and so amazing! I couldn't help but be in awe of the ability that God has given man to pinpoint such details in us. The chromosome...so small, but holds so much of what makes us who we are. As I shared before, Libi has some unique issues with her chromosomes. Number 4 chromosome is deficient, and number 11 is duplicated. Actually the part of 4 that is missing is quite minor and seems to affect more her physical make up; small hands, feet, head, her heart defect and also affects speech. It is found with a deficiency in chromosome 4 language function often lags behind cognitive ability. This makes so much sense to us. We always say that Libi "gets it".
Her chromosome 11 has duplicated part of itself and attached to chromosome 4. This makes life a bit more challenging for Libi. This is what brings about her developmental delay and seizures. It is a very unique finding. Libi has significant duplication of chromosome 11.
Medical terms:
Deletion 4q35.1
Monosomy 4q35
Terminal 4q deletion
Duplication 11q22.3
Trisomy 11q22 ter
Terminal duplication 11q22
(I understand that means nothing to most people, but wanted it out there for anyone who might search and come across Libi.)
What does it mean?
Brad and I first wanted to clarify the diagnosis mental retardation. For Libi she cannot officially carry that diagnosis, because her IQ level cannot be adequately assessed until about age 5. For now, she is diagnosed as developmentally delayed. Anyone who has an IQ below 70 is diagnosed as mentally retarded. It's such a funny term to us. I have discussed it before, but it seems to carry this stigma. I will once again quote Joel..."she doesn't seem mental."
The great thing is that we now have a definitive answer for her challenges. We know that she does not have a brain injury. That has been such a huge question mark for us since the day we brought her home. You just want to know what is wrong with your child. We have never had a real concrete diagnosis. The diagnosis’s that we have been given were incorrect. I want to encourage parents that you know your child best. You have to advocate. You have to follow the Holy Spirit's voice. I have had this nagging feeling that we were missing something with Libi. It's not that it really changes anything we are doing with her, but to us it means so much.
Our Amazing God, has revealed this marvelous mystery about Libi and we believe that He has revealed it to move us on toward healing! The doctor was very encouraging. He expressed how Libi has already made new connections and pathways in her brain to compensate. He explained to us how pliable her little brain is. She has not regressed, or hit a plateau in her development. The doctor did express that she will have delays and challenges. We will continue to press on with intervention and therapy and watch what the Lord will do in her.
As we drove home yesterday Brad shared how it struck him that this is how God formed her. The challenges she faces are not due to a brain trauma from any particular circumstance. She faces these challenges due to the exact way He molded her sweet little frame inside her mama's womb! How we praise Him...the Maker and Creator of our unique and wonderful little Libi love!!
Psalm 139
13-16 Oh yes, you shaped Libi first inside, then out;
you formed her in her mother's womb.
I thank you, High God—you're breathtaking!
Body and soul, She is marvelously made!
I worship in adoration—what a creation!
You know her inside and out,
you know every bone in her body;
You know exactly how she was made, bit by bit,
how she was sculpted from nothing into something.
Like an open book, you watched her grow from conception to birth;
all the stages of her life were spread out before you,
The days of her life all prepared
before she'd even lived one day.
