On May 5, 2014, our lives changed forever... Mary Charles arrived and completed our sweet little family. She was such a laid-back baby who loved to sleep. She looked just like her big sister, Samantha.
At 6 months, we started noticing that Mary Charles was a little floppy and was not quite developing on time. Over the next several months, we continued to worry about her development, but we were reassured that “every kid develops differently”. Mary Charles started physical therapy at 12 months after her well check appointment proved she was not meeting developmental milestones and was diagnosed with hypotonia (low muscle tone). She finally took her first steps at 19 months. We continued to worry and look for answers to our concerns, but with no clear diagnosis we were told to “give her time”. Mary Charles received speech therapy, physical therapy, occupational therapy, had her adenoids removed, sleep study done, MRI of brain, CT scan of head/neck and every evaluation known to man... but no one could put their finger on what could be causing her delays. In my heart, I just knew something was not right...
In July, after her third birthday, we met with Dr. Atwal (geneticist) at Mayo Clinic in Jacksonville. He recommended we have some genetic testing done, so all four of us gave our blood and prayed God would give us the answers we needed to help our baby girl. In October, after meeting with yet another specialist and scheduling more evasive tests, we met with Dr. Atwal to discuss the results. He informed us that she has a mutated gene called the KCNB1 gene. He reassured us and told us that Mary Charles’s future is an unwritten book. This is a rare genetic mutation, so researchers are still learning about the different variations.
We are now a part of a small community of KCNB1 little heroes and their families from across the world. We are proud to be a part of this group of angels. ALL of them have hearts the size of the moon and smiles that could brighten any dark day. We continue to serve her with OT, PT, speech, and Sped. We started ABA therapy, but our services have been put on hold due to insurance.
As the researchers and families learn more about this gene, we continue to pray for the children, the families, the doctors and the scientists. We are sharing our story so that it might help someone who is going through something similar. Genetic testing was an option that was not encouraged by our physicians until her third birthday. However, it was this decision that has brought us to be a part of this wonderful group. I encourage ANYONE who is unsure about their child’s diagnosis or just “knows” something is different to inquire about
genetic testing. For us, there is no cure, but we now know what to look for, who to turn to and that we can stop searching for answers.
God handpicked us to be her family.... Challenge accepted. Mary Charles is one tough cookie, and God has BIG plans for this sweet girl (and all the KCNB1 babies)!
At 6 months, we started noticing that Mary Charles was a little floppy and was not quite developing on time. Over the next several months, we continued to worry about her development, but we were reassured that “every kid develops differently”. Mary Charles started physical therapy at 12 months after her well check appointment proved she was not meeting developmental milestones and was diagnosed with hypotonia (low muscle tone). She finally took her first steps at 19 months. We continued to worry and look for answers to our concerns, but with no clear diagnosis we were told to “give her time”. Mary Charles received speech therapy, physical therapy, occupational therapy, had her adenoids removed, sleep study done, MRI of brain, CT scan of head/neck and every evaluation known to man... but no one could put their finger on what could be causing her delays. In my heart, I just knew something was not right...
In July, after her third birthday, we met with Dr. Atwal (geneticist) at Mayo Clinic in Jacksonville. He recommended we have some genetic testing done, so all four of us gave our blood and prayed God would give us the answers we needed to help our baby girl. In October, after meeting with yet another specialist and scheduling more evasive tests, we met with Dr. Atwal to discuss the results. He informed us that she has a mutated gene called the KCNB1 gene. He reassured us and told us that Mary Charles’s future is an unwritten book. This is a rare genetic mutation, so researchers are still learning about the different variations.
We are now a part of a small community of KCNB1 little heroes and their families from across the world. We are proud to be a part of this group of angels. ALL of them have hearts the size of the moon and smiles that could brighten any dark day. We continue to serve her with OT, PT, speech, and Sped. We started ABA therapy, but our services have been put on hold due to insurance.
As the researchers and families learn more about this gene, we continue to pray for the children, the families, the doctors and the scientists. We are sharing our story so that it might help someone who is going through something similar. Genetic testing was an option that was not encouraged by our physicians until her third birthday. However, it was this decision that has brought us to be a part of this wonderful group. I encourage ANYONE who is unsure about their child’s diagnosis or just “knows” something is different to inquire about
genetic testing. For us, there is no cure, but we now know what to look for, who to turn to and that we can stop searching for answers.
God handpicked us to be her family.... Challenge accepted. Mary Charles is one tough cookie, and God has BIG plans for this sweet girl (and all the KCNB1 babies)!