Diagnosis Known
Emma's short life has had it's fair share of diagnoses from before she was born. We saw MFM specialists because they were afraid she was going to be too small; we saw gastroenterologists because, again, she was too little. Through it all, the common thread was her size. I thought the concern from her new pediatrician when we moved to Tennessee was just going to be another unknown of something because she was "too little". Oh how I wish I could still be blissful in my ignorance....
Our perfect, adorable little girl is now met with a lifetime of uncertainty. Her dad and I will always be here to provide our support and strength, but there's no way to describe just how badly I want to take away the uncertainty and give her a "yes" or "no" to all of the unknowns.
Emma's doctor was concerned at her 4 year appointment that her height was slowing down when it should be going up. I kept trying to assure him that she's always been small and that our whole family is short, but he had other concerns that there could be an underlying issue. Thus, we were told that she would need some tests done to get to the bottom of it. Her doctor mentioned, in passing, the likelihood of Turner Syndrome, which I, of course, immediately googled when I got home from the appointment. Pictures of kids popped up and Emma didn't look like any of them. She has no physical markers for the syndrome. I dismissed it completely thinking that couldn't possibly be what she had.
Fast forward to today and Rory and I meet with Emma's doctor alone. He said he felt like having a conversation over the phone about the results would just be insensitive because we would likely have lots of questions. He proceeded to tell us that her labs were good, for the most part. Her organs all had normal levels of everything. Then, he moved on to the tests that he had done on her chromosomes. He said that she, in fact, did have Turner Syndrome. My mind went blank. I thought back to the pictures of the kids from the internet - how in the world could she have Turner Syndrome when she has NONE of the physical markers?! He went on to further explain that TS is a chromosomal abnormality in females where there is only one X chromosome where there should be two. He even showed us her chromosome test, and sure enough, she only had one chromosome on two of the charts. Oddly, two other charts showed two X chromosomes. Her doctor explained that Emma's condition is called Mosiac Turner Syndrome, where some cells have missing chromosomes and some cells don't. This translates into milder issues of the syndrome. This made me feel some better, but the issues that Emma is faced with in her future are still scary for a mama to dwell on.
Some of the biggest issues that kids and adults with TS face are heart conditions and reproductive issues. We are being referred to a cardiologist, endocrinologist, and geneticist over the next several weeks to determine the extent of issues that may already be present and preventative measures to take to keep issues from coming up. TS does not have a cure so it will be something that E and us will have to manage her whole life.
My heart breaks for my baby girl but I know that God has a plan for Emma's life and I can't wait to see what it is. Rory and I would appreciate as many prayers as can be put up for our baby as we venture into the unknown. I laugh at how terrified of doctors she has been and now, she'll have no shortage of contact with them for the rest of her life. You never know - she may decide to be one!
My deepest prayer for my daughter is that she doesn't see this as a problem but as an opportunity to spread the gospel of God to others that we wouldn't have otherwise come into contact with. I pray that she and her future husband have open hearts for however God decides to expand their family and that His will be done in everything.
I know that God doesn't allow us to endure trials that we can't handle without His help. This is as much a test of strength for Rory and I as it is a test for Emma. We will get through this and be able to use this strength in His kingdom and have a special empathy for others that are and will be going through this. No matter what happens to Emma, one day, TS will no longer be an issue for her or anyone else. One day, she will be as perfect as we see her. I look forward to that day when everything that is associated with pain and sadness will be taken away and we'll be perfect for eternity. Until that time, we'll face what we need to as a family and with God leading us. Continue to pray with us and for us as we move forward.
God bless!
Our perfect, adorable little girl is now met with a lifetime of uncertainty. Her dad and I will always be here to provide our support and strength, but there's no way to describe just how badly I want to take away the uncertainty and give her a "yes" or "no" to all of the unknowns.
Emma's doctor was concerned at her 4 year appointment that her height was slowing down when it should be going up. I kept trying to assure him that she's always been small and that our whole family is short, but he had other concerns that there could be an underlying issue. Thus, we were told that she would need some tests done to get to the bottom of it. Her doctor mentioned, in passing, the likelihood of Turner Syndrome, which I, of course, immediately googled when I got home from the appointment. Pictures of kids popped up and Emma didn't look like any of them. She has no physical markers for the syndrome. I dismissed it completely thinking that couldn't possibly be what she had.
Fast forward to today and Rory and I meet with Emma's doctor alone. He said he felt like having a conversation over the phone about the results would just be insensitive because we would likely have lots of questions. He proceeded to tell us that her labs were good, for the most part. Her organs all had normal levels of everything. Then, he moved on to the tests that he had done on her chromosomes. He said that she, in fact, did have Turner Syndrome. My mind went blank. I thought back to the pictures of the kids from the internet - how in the world could she have Turner Syndrome when she has NONE of the physical markers?! He went on to further explain that TS is a chromosomal abnormality in females where there is only one X chromosome where there should be two. He even showed us her chromosome test, and sure enough, she only had one chromosome on two of the charts. Oddly, two other charts showed two X chromosomes. Her doctor explained that Emma's condition is called Mosiac Turner Syndrome, where some cells have missing chromosomes and some cells don't. This translates into milder issues of the syndrome. This made me feel some better, but the issues that Emma is faced with in her future are still scary for a mama to dwell on.
Some of the biggest issues that kids and adults with TS face are heart conditions and reproductive issues. We are being referred to a cardiologist, endocrinologist, and geneticist over the next several weeks to determine the extent of issues that may already be present and preventative measures to take to keep issues from coming up. TS does not have a cure so it will be something that E and us will have to manage her whole life.
My heart breaks for my baby girl but I know that God has a plan for Emma's life and I can't wait to see what it is. Rory and I would appreciate as many prayers as can be put up for our baby as we venture into the unknown. I laugh at how terrified of doctors she has been and now, she'll have no shortage of contact with them for the rest of her life. You never know - she may decide to be one!
My deepest prayer for my daughter is that she doesn't see this as a problem but as an opportunity to spread the gospel of God to others that we wouldn't have otherwise come into contact with. I pray that she and her future husband have open hearts for however God decides to expand their family and that His will be done in everything.
I know that God doesn't allow us to endure trials that we can't handle without His help. This is as much a test of strength for Rory and I as it is a test for Emma. We will get through this and be able to use this strength in His kingdom and have a special empathy for others that are and will be going through this. No matter what happens to Emma, one day, TS will no longer be an issue for her or anyone else. One day, she will be as perfect as we see her. I look forward to that day when everything that is associated with pain and sadness will be taken away and we'll be perfect for eternity. Until that time, we'll face what we need to as a family and with God leading us. Continue to pray with us and for us as we move forward.
God bless!
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