The story of Anne-Marie
Hi everybody
In April 2020, our beauuuutiful baby girl, Eléonore, was born. I was enjoying the pregnancy so much, except for the nausea and the typical aches, up until we were 26+3 weeks along. That’s were everything turned into a blur, our daughter wanted to be born… This doesn’t really have to do anything with the genetic disease she appeared te have, but I kind of wanted to show what a crazy year it has been. Long story short, I was on different medicines for almost ten weeks and streched the pregnancy until I was 36+1 weeks. That’s when Eléonore came along. Everything was fine at the beginning and we were really on cloud nine. Her breathing was fine, she was gaining weight very well… it couldn’t go any better.
After about one or two months it was time for her first vaccines, we went to the doctor to get the shots and returned home afterwards. Our daughter was crying a lot and had a fever so we called on-call doctor. We went by for a check-up, the doctor called the hospital but they were all fine with just sending us home – side note: our daughter had an exceptional dark skin color, compared to her dad an I but nobody was thinking anything of it -. Time passed and she started to feel better again. At three months old, it was time for some other shots… same story, we went to the doctor, got the shots and returned home. After a few hours, she was obviously feeling a bit different. We didn’t think anything of it because last time the doctor didn’t need to do extra tests or anything. She got a flare-up and we put her on her playing blanket, her daddy was sitting next to her. All of a sudden, he called me in a panic (I was 3 meters away, in the kitchen), our daughter was all stiffened (arms and legs wide open) and started turning blue. As an automatic reaction, I ran over and grabbed her. She all of a sudden came by and started crying hysterically… it seemed like she was trapped in her own body for a few seconds.
We immediately called the hospital and the nurse on the phone said that she didn’t think it was an emergency??? We were sooooo angry and decided our daughter just had to be seen by a doctor. Ten minutes later, we arrived at the hospital and luckily the paediatrician did see the urgency in the situation and started running tests. She was also the first doctor to notice her dark skin color and found it suspicious. That in combination with what happened earlier made her do some bloodwork focussing on the adrenal glands. We stayed in the hospital for about three days so that doctors would be close in case she would have a crisis again. Luckily, she didn’t have any…
After about a week after the bloodworks, we were informed that our daughter’s ACTH and cortisol levels were not normal. The ACTH was way to high (1000+) and the cortisol was not responding to those high ACTH levels. Months of genetic testing and monthly blood work began and we started giving our daughter hydrocortisone 3x per day.
After 5,5 months, we finally received a letter saying that the doctors found 2 different deviations in her DNA. Finally, we get some clarity on what’s going on with our precious little girl and finally we are sure that our daughter can have a relatively normal life if she takes her medication stricly.
We have been told she’s the only known case in Belgium which makes it hard to understand how much the disease will affect her teenage and adult life… but I guess, we’ll see… There are still a lot of things we’re trying to understand and we’ve now started genetic tests on daddy and I because we’d like to give Eléonore a sibling, but it’s nice to have some answers already. We’re very glad to see our daughter is developping just like any of her baby friends in daycare and she is laughing all day long. She is our unique little baby in many ways! <3