Charlotte's Partial Diagnosis
About six weeks ago I started to connect some dots on Charlotte at a feeding therapy appointment for Carter. His therapist was explaining Carter's struggles and was describing some things that Charlotte had struggled with since she first started pureed food. I paused her for a moment, briefly explaining that my 2.5 yr old has Hypotonia and displays similar struggles. What she said made A LOT of sense and she encouraged me to have Charlotte evaluated for feeding therapy too. On the way home that day a light bulb turned on for me. Hypotonia was more than just a delay in walking/running. So, I dove head first into reading up on it and researching other ways it could and does affect children in development... Which landed us in our Pediatrician's office two weeks later at Charlotte's 2.5 yr. visit with a list of questions and requests for therapy evaluations in all areas of development.
We spent the next month dragging poor Charlotte from doctor to doctor, trying to mark things off our list. Hearing test - Perfect! CHECK!
Heart murmur - No Signs. CHECK!
Feeding - She needs help. Therapy recommended. (we start tomorrow)
Speech - 1 yr delay. No surprise to us. Therapy recommended (we start tomorrow)
OT - minor delays in 9 out of 10 areas. But MILD. Therapy recommended.
PT - continue for another 3-6 months.
Neurology - Chromosomal testing...MRI ordered...
Your heart skips a beat when you answer the phone to find it's your child's Neurologist on the other end. Not his nurse or front office staff, the Neurologist himself. It's never a good sign when the doctor is calling you personally. "Your chromosomal testing came back and shows that your daughter has a partial deletion..." The rest of that conversation is a bit blurry to me as I struggled to keep my focus and soak in everything that the doctor needed to tell me, but I'm pretty certain that moment will forever be burned into my mind and heart. It was a short conversation that ended with, "Get her MRI done, then call my office to schedule a meeting with JUST you and your husband (no kids) and I'll give you a full explanation once I have a complete picture." I hung up, my heart sank to my toes and I burst into tears...
So what does she have? Will she overcome it? What is her diagnosis exactly? To be honest, we don't know. We have more questions than we have answers for right now and we are waiting. Waiting for her MRI results to come back and to sit down with her Neurologist for a full explanation. We are hoping and praying that can happen later this week. Answers would be really nice right now. Her doctor did tell us the name of the syndrome that her deletion is most commonly associated with, but to be honest, we aren't really ready to share what that is just yet. We want to protect ourselves and our friends and family from the internet. There's a lot of bad information out there and some really scary stuff that just does not exist in Charlotte. Even the Neurologist said he was hesitant to give her a label because "she does not display some of the key characteristics of that syndrome."
Right now, Shaun and I are choosing to focus on what we do know about our Charlotte. After all, whatever her medical label will be, is exactly that. A medical label. It does not define who Charlotte is to us or to the world around her any more than Carter's cleft defines him or the scars on my body define me. Charlotte is: JOY! Delight! Love! Hugs! Giggles! Happiness! She is bright! Mischievous! Has an incredible sense of humor. She loves to learn and play. She is determined. Oh is she determined. We are constantly amazed at how she pushes herself to keep up with those around her.
How are we? It's been a very long ten days since we learned about the deletion. In all honesty, my world shattered and I'm trying to pick up the pieces. I've been processing every emotion imaginable and God and I have been talking a lot. He is present and He is near. While my heart has been troubled, I am slowly getting to a place of peace and trust and resting in His grace and even a place of hope. Some days are better than others, but I am choosing to rest in knowing that God is not surprised by any of this. He has been gracious enough to surround us with friends on similar journeys who have come along side us and are loving on us and helping us navigate the processing. Just as He did with Carter's cleft, God showed up and met us right where we are. In the middle of all of this, He has also graciously sent several people our way with stories of hope - people with partial deletions that have grown into thriving independent adults.
We know that God has a plan. He created Charlotte to be perfect exactly as she is. And to us, she is exactly that. Perfect - just exactly like she is. Yes, I do keep asking God for a miracle. For Charlotte to astound her doctors and show that God is so much bigger than science. More than that though, I am surrendering my plans and desires for Charlotte to God and asking Him to write her story in such a way, that anyone who comes in contact with her can only walk away knowing that God is a big God and that HE is the author - not genes and not chromosomes.
Our Hope! - Our "Cornerstone" (Hillsong)
We spent the next month dragging poor Charlotte from doctor to doctor, trying to mark things off our list. Hearing test - Perfect! CHECK!
Heart murmur - No Signs. CHECK!
Feeding - She needs help. Therapy recommended. (we start tomorrow)
Speech - 1 yr delay. No surprise to us. Therapy recommended (we start tomorrow)
OT - minor delays in 9 out of 10 areas. But MILD. Therapy recommended.
PT - continue for another 3-6 months.
Neurology - Chromosomal testing...MRI ordered...
Your heart skips a beat when you answer the phone to find it's your child's Neurologist on the other end. Not his nurse or front office staff, the Neurologist himself. It's never a good sign when the doctor is calling you personally. "Your chromosomal testing came back and shows that your daughter has a partial deletion..." The rest of that conversation is a bit blurry to me as I struggled to keep my focus and soak in everything that the doctor needed to tell me, but I'm pretty certain that moment will forever be burned into my mind and heart. It was a short conversation that ended with, "Get her MRI done, then call my office to schedule a meeting with JUST you and your husband (no kids) and I'll give you a full explanation once I have a complete picture." I hung up, my heart sank to my toes and I burst into tears...
So what does she have? Will she overcome it? What is her diagnosis exactly? To be honest, we don't know. We have more questions than we have answers for right now and we are waiting. Waiting for her MRI results to come back and to sit down with her Neurologist for a full explanation. We are hoping and praying that can happen later this week. Answers would be really nice right now. Her doctor did tell us the name of the syndrome that her deletion is most commonly associated with, but to be honest, we aren't really ready to share what that is just yet. We want to protect ourselves and our friends and family from the internet. There's a lot of bad information out there and some really scary stuff that just does not exist in Charlotte. Even the Neurologist said he was hesitant to give her a label because "she does not display some of the key characteristics of that syndrome."
Right now, Shaun and I are choosing to focus on what we do know about our Charlotte. After all, whatever her medical label will be, is exactly that. A medical label. It does not define who Charlotte is to us or to the world around her any more than Carter's cleft defines him or the scars on my body define me. Charlotte is: JOY! Delight! Love! Hugs! Giggles! Happiness! She is bright! Mischievous! Has an incredible sense of humor. She loves to learn and play. She is determined. Oh is she determined. We are constantly amazed at how she pushes herself to keep up with those around her.
How are we? It's been a very long ten days since we learned about the deletion. In all honesty, my world shattered and I'm trying to pick up the pieces. I've been processing every emotion imaginable and God and I have been talking a lot. He is present and He is near. While my heart has been troubled, I am slowly getting to a place of peace and trust and resting in His grace and even a place of hope. Some days are better than others, but I am choosing to rest in knowing that God is not surprised by any of this. He has been gracious enough to surround us with friends on similar journeys who have come along side us and are loving on us and helping us navigate the processing. Just as He did with Carter's cleft, God showed up and met us right where we are. In the middle of all of this, He has also graciously sent several people our way with stories of hope - people with partial deletions that have grown into thriving independent adults.
We know that God has a plan. He created Charlotte to be perfect exactly as she is. And to us, she is exactly that. Perfect - just exactly like she is. Yes, I do keep asking God for a miracle. For Charlotte to astound her doctors and show that God is so much bigger than science. More than that though, I am surrendering my plans and desires for Charlotte to God and asking Him to write her story in such a way, that anyone who comes in contact with her can only walk away knowing that God is a big God and that HE is the author - not genes and not chromosomes.
Our Hope! - Our "Cornerstone" (Hillsong)
Thinking of you all! I can honestly say I understand how you are feeling and the emotions you are going through. I lived it all in the first hours of motherhood, and still do. Charlotte is prefect, the masterpiece God created for you. A "syndrome " is as you said, just a label, and will not define the limitless possibilities for her future. Just look at my life, so beautifully blessed with a child who happens to have an extra chromosome. Yes, there are challenges, but nothing you cannot overcome. She will amaze you!
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