Finding Out Our Daughter Has a Life-Threatening Disease // Cystic Fibrosis Awareness // Part 2
The utter and complete shock of finding out you and your spouse are carriers of a genetic disease is unimaginable. I never thought something like this could happen to us. I could not understand why God would bring us together so perfectly only to have us mismatched in such a big way.
After hanging up the phone with my OB's office, I looked to Ty across the couch. I knew what I was about to say to him would break his heart as much as mine was breaking. "You're a carrier too" was all I could manage to say before the tears started spilling from my eyes. (To read about Ty's perspective on this moment click here.)
As I crawled into bed that night, I found myself desperate for it to all be a dream. Is this real life? Was it possible I would watch my child suffer through a disease? Would I watch my child die? Would I attend their funeral? How can I help them if there's no cure?
I was grieving the health of my child but then also, grieving the future I thought we would have. Ty and I adore children. We love spending time with our niece and nephews, they brought us more joy than anything else in our lives. We always imagined we would be having several children of our own. But we were both slowly realizing we wouldn't be able to plan a family as care-free as we thought we would.
I felt like my soul was breaking every few minutes as the reality of what was happening washed over me again and again. It honestly felt as though grief and fear had filled my entire body. I didn't even have the energy to pray, all I could manage to get out was, "God, why? Help."
Two weeks after we found out Ty was also a carrier of the Cystic Fibrosis gene we had our appointment with a genetic counselor and an ultrasound at a high-risk unit. I was 12 weeks pregnant.
As I got ready on the morning of the appointment, I wondered how the next few hours were going to change my life. What would I learn today? What would the counselor tell us about CF? What if the disease is worse than I thought or imagined? What if our CF mutations are the really severe kind? What would happen at the ultrasound? What if they could tell if my baby has CF today? I don't think I want to know today....What if...What if...What if...
My mom came to the appointment with us. She was just as nervous as I was but she greeted us with a big hug and smile and held my hand while we waited for my name to be called. After a few minutes of waiting, a woman stood at the door behind the front desk and called out my name.
As we followed her through several long, very tan hallways, I wondered about the other pregnant women who walked them before me. I thought about what brought them here, how they must have been feeling. I felt a little less alone, knowing I was not the only mom in the world to experience something heartbreaking during pregnancy. I gained strength from knowing they walked those halls before me.
We arrived at the counselor's corner office. We settled into the couch across from her desk.
"First, congratulations on your pregnancy. I can imagine this is a really emotional time for you both as it is probably full of a lot of happiness but also a lot of uncertainty with your test results. I have your results here and I can see you both tested positive for the CFTR gene that has a mutation. You each have only one of these mutated genes, which makes you a carrier for CF. To have cystic fibrosis, you need two mutated CFTR genes. So, when two people who are carriers of CF have a child there is a 25% chance their baby will have the disease. That means there is a 75% chance your baby does not have CF."
"I'd like to start by hearing what you know or have heard about Cystic Fibrosis." she said.
I told her about how we had never heard of CF before my positive screening, there was no one on either sides of our families who had Cystic Fibrosis. I told her when I asked the nurse at my OB's office about Cystic Fibrosis she told me it was a disease that affects the digestive system and lungs and there was no cure so the life expectancy was 20 years old.
She listened carefully then responded, "Okay, the first thing I want to tell you is there is a lot of outdated information out there and I don't want you to feel overwhelmed with statistics and information that is no longer accurate, so please don't google Cystic Fibrosis. The life expectancy of someone with Cystic Fibrosis is currently 39, not 20. In the 1950's children with cystic fibrosis would rarely live to elementary school so there is a lot of progress being made with this disease. It is not the diagnosis it used to be. However, Cystic Fibrosis it is a very serious disease, even with daily treatment."
39? 39. The life expectancy was 39! This fact brought me an odd sense of joy. 39 was better than 20. But 39 was young. As a 28 year old at the time, I tried to imagine knowing I only had about 10 years left to live...
She continued..."Cystic Fibrosis is an interesting disease, it's considered an "invisible illness." Your baby's physical, social, and learning skills will not be affected by cystic fibrosis. From the outside, they will appear completely healthy, however, on the inside cystic fibrosis will be affecting their lungs, liver, pancreas, and digestive system. In patients with CF, sometimes lung disease, feeding tubes, liver disease, diabetes, pancreatic insufficiency and lung transplants are things dealt with."
Lung transplant? My child could need a lung transplant...My brain couldn't comprehend that thought.
"There are over 1700 different types of mutated genes someone can have for CF. I have your test results here and you both carry the same exact one. It's called deltaf508. It is a mutation which causes moderate to severe CF symptoms."
My heart sank.
"...but don't feel discouraged, that mutation is also the most common mutation, so although symptoms are more severe, there a lot of research being done around it because a majority of CF patients have it."
My mom squeezed my hand.
The counselor continued. "I know this is a lot to take in..." she paused. "But I want you to know if your baby has cystic fibrosis there have been incredible advancements in this disease and we truly believe a cure can be found in your lifetime. You would be connected immediately to a cystic fibrosis clinic. There are incredible care centers in Dayton, Cincinnati and Columbus. You would start treatment right away and that will be a huge benefit to your baby later on. There is a lot of hope for this disease."
It was odd to walk out of a meeting like that with a sense of hope. I was definitely overwhelmed, and still in a state of shock from the situation we were in, but research is extending the life expectancy of someone with CF every day. I was thankful for the doctors and scientists already searching for a cure. I was thankful for the counselor who took time to explain CF with compassion. I thought about what a difficult job she must have but also what a privilege it must be to give people hope when they are overwhelmed with uncertainty and fear. I was thankful for the nausea I had reminding me that I have life growing inside of me at that moment because in the midst of finding out we were carriers, it was easy to forget about focusing on my pregnancy. There was life growing inside of me and for that I was incredibly grateful.
After our counseling appointment, we headed straight into our 12 week ultrasound at the high risk unit. Until this ultrasound, our little one had only ever looked like a dot on the screen. This time, they pulled up the ultrasound screen and I could see a head, arms, legs, hands and feet! Suddenly, she was a baby. Our baby girl kicked and wriggled about for a while, making everyone in the room laugh and the nurse work really hard to get her measurements, then suddenly she turned over and fell asleep. (This is still true for her today! She wiggles and kicks like crazy right before she falls asleep!)
We couldn't take our eyes off the screen as we laughed and joked about our baby's personality, whose nose it would have and if it was a boy or girl. We listened to her precious heatcbeat and with every thump, CF was sent further and further into be back of my mind.
The ultrasound tech was extremely warm and kind and printed out tons of images for us to take home. I could have stared at those images for hours. Looking at them made CF feel small. It was still heavy on my mind, but those black and white images reminded there was life growing inside of me. This was my baby in that picture and if she had CF, I suddenly knew she would be more than CF. She was a miracle. She was perfect.
And just like that, we had hope. We had hope that even if our baby had cystic fibrosis, she would be more than cystic fibrosis. Somehow, even in the midst of pain, fear and uncertainty we had hope.
After hanging up the phone with my OB's office, I looked to Ty across the couch. I knew what I was about to say to him would break his heart as much as mine was breaking. "You're a carrier too" was all I could manage to say before the tears started spilling from my eyes. (To read about Ty's perspective on this moment click here.)
As I crawled into bed that night, I found myself desperate for it to all be a dream. Is this real life? Was it possible I would watch my child suffer through a disease? Would I watch my child die? Would I attend their funeral? How can I help them if there's no cure?
I was grieving the health of my child but then also, grieving the future I thought we would have. Ty and I adore children. We love spending time with our niece and nephews, they brought us more joy than anything else in our lives. We always imagined we would be having several children of our own. But we were both slowly realizing we wouldn't be able to plan a family as care-free as we thought we would.
I felt like my soul was breaking every few minutes as the reality of what was happening washed over me again and again. It honestly felt as though grief and fear had filled my entire body. I didn't even have the energy to pray, all I could manage to get out was, "God, why? Help."
Two weeks after we found out Ty was also a carrier of the Cystic Fibrosis gene we had our appointment with a genetic counselor and an ultrasound at a high-risk unit. I was 12 weeks pregnant.
As I got ready on the morning of the appointment, I wondered how the next few hours were going to change my life. What would I learn today? What would the counselor tell us about CF? What if the disease is worse than I thought or imagined? What if our CF mutations are the really severe kind? What would happen at the ultrasound? What if they could tell if my baby has CF today? I don't think I want to know today....What if...What if...What if...
My mom came to the appointment with us. She was just as nervous as I was but she greeted us with a big hug and smile and held my hand while we waited for my name to be called. After a few minutes of waiting, a woman stood at the door behind the front desk and called out my name.
As we followed her through several long, very tan hallways, I wondered about the other pregnant women who walked them before me. I thought about what brought them here, how they must have been feeling. I felt a little less alone, knowing I was not the only mom in the world to experience something heartbreaking during pregnancy. I gained strength from knowing they walked those halls before me.
We arrived at the counselor's corner office. We settled into the couch across from her desk.
"First, congratulations on your pregnancy. I can imagine this is a really emotional time for you both as it is probably full of a lot of happiness but also a lot of uncertainty with your test results. I have your results here and I can see you both tested positive for the CFTR gene that has a mutation. You each have only one of these mutated genes, which makes you a carrier for CF. To have cystic fibrosis, you need two mutated CFTR genes. So, when two people who are carriers of CF have a child there is a 25% chance their baby will have the disease. That means there is a 75% chance your baby does not have CF."
"I'd like to start by hearing what you know or have heard about Cystic Fibrosis." she said.
I told her about how we had never heard of CF before my positive screening, there was no one on either sides of our families who had Cystic Fibrosis. I told her when I asked the nurse at my OB's office about Cystic Fibrosis she told me it was a disease that affects the digestive system and lungs and there was no cure so the life expectancy was 20 years old.
She listened carefully then responded, "Okay, the first thing I want to tell you is there is a lot of outdated information out there and I don't want you to feel overwhelmed with statistics and information that is no longer accurate, so please don't google Cystic Fibrosis. The life expectancy of someone with Cystic Fibrosis is currently 39, not 20. In the 1950's children with cystic fibrosis would rarely live to elementary school so there is a lot of progress being made with this disease. It is not the diagnosis it used to be. However, Cystic Fibrosis it is a very serious disease, even with daily treatment."
39? 39. The life expectancy was 39! This fact brought me an odd sense of joy. 39 was better than 20. But 39 was young. As a 28 year old at the time, I tried to imagine knowing I only had about 10 years left to live...
She continued..."Cystic Fibrosis is an interesting disease, it's considered an "invisible illness." Your baby's physical, social, and learning skills will not be affected by cystic fibrosis. From the outside, they will appear completely healthy, however, on the inside cystic fibrosis will be affecting their lungs, liver, pancreas, and digestive system. In patients with CF, sometimes lung disease, feeding tubes, liver disease, diabetes, pancreatic insufficiency and lung transplants are things dealt with."
Lung transplant? My child could need a lung transplant...My brain couldn't comprehend that thought.
"There are over 1700 different types of mutated genes someone can have for CF. I have your test results here and you both carry the same exact one. It's called deltaf508. It is a mutation which causes moderate to severe CF symptoms."
My heart sank.
"...but don't feel discouraged, that mutation is also the most common mutation, so although symptoms are more severe, there a lot of research being done around it because a majority of CF patients have it."
My mom squeezed my hand.
The counselor continued. "I know this is a lot to take in..." she paused. "But I want you to know if your baby has cystic fibrosis there have been incredible advancements in this disease and we truly believe a cure can be found in your lifetime. You would be connected immediately to a cystic fibrosis clinic. There are incredible care centers in Dayton, Cincinnati and Columbus. You would start treatment right away and that will be a huge benefit to your baby later on. There is a lot of hope for this disease."
It was odd to walk out of a meeting like that with a sense of hope. I was definitely overwhelmed, and still in a state of shock from the situation we were in, but research is extending the life expectancy of someone with CF every day. I was thankful for the doctors and scientists already searching for a cure. I was thankful for the counselor who took time to explain CF with compassion. I thought about what a difficult job she must have but also what a privilege it must be to give people hope when they are overwhelmed with uncertainty and fear. I was thankful for the nausea I had reminding me that I have life growing inside of me at that moment because in the midst of finding out we were carriers, it was easy to forget about focusing on my pregnancy. There was life growing inside of me and for that I was incredibly grateful.
After our counseling appointment, we headed straight into our 12 week ultrasound at the high risk unit. Until this ultrasound, our little one had only ever looked like a dot on the screen. This time, they pulled up the ultrasound screen and I could see a head, arms, legs, hands and feet! Suddenly, she was a baby. Our baby girl kicked and wriggled about for a while, making everyone in the room laugh and the nurse work really hard to get her measurements, then suddenly she turned over and fell asleep. (This is still true for her today! She wiggles and kicks like crazy right before she falls asleep!)
We couldn't take our eyes off the screen as we laughed and joked about our baby's personality, whose nose it would have and if it was a boy or girl. We listened to her precious heatcbeat and with every thump, CF was sent further and further into be back of my mind.
The ultrasound tech was extremely warm and kind and printed out tons of images for us to take home. I could have stared at those images for hours. Looking at them made CF feel small. It was still heavy on my mind, but those black and white images reminded there was life growing inside of me. This was my baby in that picture and if she had CF, I suddenly knew she would be more than CF. She was a miracle. She was perfect.
And just like that, we had hope. We had hope that even if our baby had cystic fibrosis, she would be more than cystic fibrosis. Somehow, even in the midst of pain, fear and uncertainty we had hope.
Comments
Post a Comment