Finding Out Our Daughter Has a Life-Threatening Disease // Cystic Fibrosis Awareness // Part 1
I could have never been prepared to hear the words “Your daughter has cystic fibrosis.” Maybe that’s why our doctor never actually said them during Caroline’s two week check up. He didn’t have to though. I knew what it meant when he said, “I do have Caroline’s newborn screening results back...and she does have two copies of the deltaf508 gene mutation.”
A year ago I would not have known what that sentence even meant and now I knew those words would change our lives forever.
For eight months of pregnancy I had imagined what this moment would feel like. Would I fall to pieces on the floor? Would I be able to speak? Would I believe the doctor? Would I cry uncontrollably? How does a person respond when they find out their child has a life-threatening disease? I didn’t know.
At six weeks pregnant I went into my OB's office for my first prenatal check up. We talked about nausea, prenatal vitamins, ultrasounds and blood work. The nurse explained the blood work was routine and encouraged me to test for a few extra things like glucose levels and certain rare disease traits if insurance would cover it. I left the appointment and went straight to the clinic for my blood work and then headed to TJ Maxx to browse baby clothes for the first time.
Later that week, I was checking my email around 11:30pm and noticed an email from my OB's office sent at 11:00pm. "MyChart Central: Your Test Results" My blood test results had come back. I logged onto my account and looked over my results. My eyes scanned down the list.
Standard Range
Standard Range
Standard Range
Standard Range
Standard Range
Normal
Normal
Standard Range
Abnormal
....I blinked and read the word again.
"Abnormal"
I followed the line connecting Abnormal to a word across the screen that I couldn't remember ever hearing before, "Cystic Fibrosis."
I immediately texted my older sister to see if she remembered this result on any of her pregnancy blood work tests and my mom to see if she knew what it meant. My sister immediately started doing research for me. She texted me back, "It's probably fine but don't google this. Ask me questions if you have them and I'll figure it out for you." My mom said, "I've never heard of that before, our family doesn't have that so it's probably fine."
Looking back now, I think they both realized something was wrong but they didn't want to worry me.
The next morning my phone range and I saw my OB's office number pop up on the screen. I was a little nervous, but still unsure of what the "abnormal" result meant. Maybe it's something that's just wrong with me and not the baby? Maybe it's something they can fix with a supplement? Maybe the test was wrong?
The nurse said my blood work levels all came back normal but I tested positive as a carrier for a genetic disease called Cystic Fibrosis.
“This doesn’t mean you have Cystic Fibrosis because to have Cystic Fibrosis you must have two copies of a mutated gene but you only have one so you are considered a carrier. One in 30 people in America are carriers for the disease so it’s important that your husband also be tested to see if he also carries the mutated gene. If he does then your baby would be at risk for having Cystic Fibrosis because you could both pass your mutated genes to them."
At this point in the conversation, I remembered that during my first prenatal appointment the nurse practitioner explained what what Cystic Fibrosis was because I didn't know what it was or why I would be tested for it. Her words replayed in my head, “It's a disease of the digestive system and lungs. There is no cure, so children with Cystic Fibrosis typically don’t live past 20 years old.” (Keep reading to learn why this information given to me by her was partially incorrect.)
It felt like someone had just pulled my heart from my chest. How could this be happening?
We tried to remain positive as we waited for Ty’s carrier test results. The “odds” were on our side. One in every 30 Americans are carriers for this disease but what are the chances I would have the gene and Ty would too? Very small.
Two weeks after Ty had his blood work drawn (the longest two weeks of my life) we received a call from my doctor’s office. I held my breath as I waited for the nurse to speak.
“We received your husband’s screening and he is also a carrier for cystic fibrosis. It is highly recommended you make an appointment with a genetic counselor and we would recommend going to a high risk unit for your 12 week ultrasound.”
It is extremely difficult for me to think about that moment. I really don't have words to describe what it was like.
As I crawled into bed that night, I found myself desperate for it to all be a dream. Was it possible I would watch my child suffer through a disease? Would I watch my child die? There's no cure so how would I help them? I felt like my soul was breaking every few minutes as the reality of what had happened washed over me again and again.
PART II
A year ago I would not have known what that sentence even meant and now I knew those words would change our lives forever.
For eight months of pregnancy I had imagined what this moment would feel like. Would I fall to pieces on the floor? Would I be able to speak? Would I believe the doctor? Would I cry uncontrollably? How does a person respond when they find out their child has a life-threatening disease? I didn’t know.
At six weeks pregnant I went into my OB's office for my first prenatal check up. We talked about nausea, prenatal vitamins, ultrasounds and blood work. The nurse explained the blood work was routine and encouraged me to test for a few extra things like glucose levels and certain rare disease traits if insurance would cover it. I left the appointment and went straight to the clinic for my blood work and then headed to TJ Maxx to browse baby clothes for the first time.
Later that week, I was checking my email around 11:30pm and noticed an email from my OB's office sent at 11:00pm. "MyChart Central: Your Test Results" My blood test results had come back. I logged onto my account and looked over my results. My eyes scanned down the list.
Standard Range
Standard Range
Standard Range
Standard Range
Standard Range
Normal
Normal
Standard Range
Abnormal
....I blinked and read the word again.
"Abnormal"
I followed the line connecting Abnormal to a word across the screen that I couldn't remember ever hearing before, "Cystic Fibrosis."
I immediately texted my older sister to see if she remembered this result on any of her pregnancy blood work tests and my mom to see if she knew what it meant. My sister immediately started doing research for me. She texted me back, "It's probably fine but don't google this. Ask me questions if you have them and I'll figure it out for you." My mom said, "I've never heard of that before, our family doesn't have that so it's probably fine."
Looking back now, I think they both realized something was wrong but they didn't want to worry me.
The next morning my phone range and I saw my OB's office number pop up on the screen. I was a little nervous, but still unsure of what the "abnormal" result meant. Maybe it's something that's just wrong with me and not the baby? Maybe it's something they can fix with a supplement? Maybe the test was wrong?
The nurse said my blood work levels all came back normal but I tested positive as a carrier for a genetic disease called Cystic Fibrosis.
“This doesn’t mean you have Cystic Fibrosis because to have Cystic Fibrosis you must have two copies of a mutated gene but you only have one so you are considered a carrier. One in 30 people in America are carriers for the disease so it’s important that your husband also be tested to see if he also carries the mutated gene. If he does then your baby would be at risk for having Cystic Fibrosis because you could both pass your mutated genes to them."
At this point in the conversation, I remembered that during my first prenatal appointment the nurse practitioner explained what what Cystic Fibrosis was because I didn't know what it was or why I would be tested for it. Her words replayed in my head, “It's a disease of the digestive system and lungs. There is no cure, so children with Cystic Fibrosis typically don’t live past 20 years old.” (Keep reading to learn why this information given to me by her was partially incorrect.)
It felt like someone had just pulled my heart from my chest. How could this be happening?
We tried to remain positive as we waited for Ty’s carrier test results. The “odds” were on our side. One in every 30 Americans are carriers for this disease but what are the chances I would have the gene and Ty would too? Very small.
Two weeks after Ty had his blood work drawn (the longest two weeks of my life) we received a call from my doctor’s office. I held my breath as I waited for the nurse to speak.
“We received your husband’s screening and he is also a carrier for cystic fibrosis. It is highly recommended you make an appointment with a genetic counselor and we would recommend going to a high risk unit for your 12 week ultrasound.”
It is extremely difficult for me to think about that moment. I really don't have words to describe what it was like.
As I crawled into bed that night, I found myself desperate for it to all be a dream. Was it possible I would watch my child suffer through a disease? Would I watch my child die? There's no cure so how would I help them? I felt like my soul was breaking every few minutes as the reality of what had happened washed over me again and again.
PART II
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