As I mentioned before, our daughter Jasmine had been diagnosed at our 12 week ultrasound with CDH (congenital diaphragmatic hernia). I had never even heard of this before she was diagnosed (even though I later found out there is just as many cases of this per year as cystic fibrosis and spina bifida). Crazy that it was the only one of the three I hadn't ever heard of. The cause of CDH is not really known as it seems to sometimes have a genetic component and sometimes it is random. We were told that they have found links to CDH on every single one of the chromosomes, so they can't even narrow down exactly what causes it. It is one of those things that many people are told has a 50% survival rate at best and prospects seem bleak. But there are several specialist locations around the country that focus on CDH and have drastically improved those survival rates.
The other issue we were dealing with was mosaic trisomy 15. This is extremely rare, so there was not a lot of information out there on trisomy 15. The main reason that trisomy 15 is so rare is that most pregnancies affected by this end up as miscarriages. The trisomy 15 is likely what caused the CDH as well. Trisomy means that a cell has three pieces of DNA instead of the normal two. What makes it mosiac is that some of the cells have the extra copy and some do not. We were originally given an estimate (based on the amniotic fluid tested from the amnio we did) of 20% abnormal cells vs 80% normal cells. This seemed like good odds. Sounded like most of her cells were normal. She had no other markers really of issues, so it was easy to believe that she wasn't severely affected. What we were told though, is that the estimate really doesn't mean anything. It won't tell you which organs are affected and by how much. The heart could be really affected, but the liver only mildly or not at all affected.
She had fluid around her lung that had stayed pretty consistent, but at 31 weeks it drastically increased and developed into hydrops, which is fluid in two or more places in the body. Hers developed into edema (swelling in the skin). This is when I also started feeling decreased movement. It literally happened overnight. I felt her fine the night before and the next morning I just knew something was off. That was the day we went to our appointment and found out about the hydrops.
I made a lot of friends in the CDH community during this time. People who would tell the stories of their children, both of those who survived great odds and those who could not stay in this world. But after that trisomy diagnosis, no doctor wanted to touch our case it seemed. You heard the word "trisomy" and are only told grim prospects. They don't even want to try to help. And that really sucks. Honestly, in my mind, the trisomy is clearly what caused all the issues, so I sometimes forget she even had the CDH aspect of it. Sometimes I don't even feel like I belong with the CDH community anymore because of the trisomy. It is a weird feeling. I wish these were all things I didn't have to know about.
This is a picture of our daughter on an ultrasound around 26 weeks. Her little face was so perfect.
After everything happened, we met with a genetic counselor and were told that, based on amnio results, that it was an over 90-95% chance that this is not a genetic issue and was completely random. The chances of it happening again are basically less than 1%. But when you were the one that it happened to, less than 1% starts to sound like a lot sometimes. Basically, the chance of it happening to anyone else was the same as it happening to us this first time. It is times like these I really wish I could be one of those women who were just completely oblivious to all of this!
The other issue we were dealing with was mosaic trisomy 15. This is extremely rare, so there was not a lot of information out there on trisomy 15. The main reason that trisomy 15 is so rare is that most pregnancies affected by this end up as miscarriages. The trisomy 15 is likely what caused the CDH as well. Trisomy means that a cell has three pieces of DNA instead of the normal two. What makes it mosiac is that some of the cells have the extra copy and some do not. We were originally given an estimate (based on the amniotic fluid tested from the amnio we did) of 20% abnormal cells vs 80% normal cells. This seemed like good odds. Sounded like most of her cells were normal. She had no other markers really of issues, so it was easy to believe that she wasn't severely affected. What we were told though, is that the estimate really doesn't mean anything. It won't tell you which organs are affected and by how much. The heart could be really affected, but the liver only mildly or not at all affected.
She had fluid around her lung that had stayed pretty consistent, but at 31 weeks it drastically increased and developed into hydrops, which is fluid in two or more places in the body. Hers developed into edema (swelling in the skin). This is when I also started feeling decreased movement. It literally happened overnight. I felt her fine the night before and the next morning I just knew something was off. That was the day we went to our appointment and found out about the hydrops.
I made a lot of friends in the CDH community during this time. People who would tell the stories of their children, both of those who survived great odds and those who could not stay in this world. But after that trisomy diagnosis, no doctor wanted to touch our case it seemed. You heard the word "trisomy" and are only told grim prospects. They don't even want to try to help. And that really sucks. Honestly, in my mind, the trisomy is clearly what caused all the issues, so I sometimes forget she even had the CDH aspect of it. Sometimes I don't even feel like I belong with the CDH community anymore because of the trisomy. It is a weird feeling. I wish these were all things I didn't have to know about.
This is a picture of our daughter on an ultrasound around 26 weeks. Her little face was so perfect.
After everything happened, we met with a genetic counselor and were told that, based on amnio results, that it was an over 90-95% chance that this is not a genetic issue and was completely random. The chances of it happening again are basically less than 1%. But when you were the one that it happened to, less than 1% starts to sound like a lot sometimes. Basically, the chance of it happening to anyone else was the same as it happening to us this first time. It is times like these I really wish I could be one of those women who were just completely oblivious to all of this!
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