“I only knew it was called ADANEs. I didn’t even know what it stood for, just that I carried the gene. The drs told me that they had never heard of it and that it couldn’t be that. I finally found an article I was able to show them and figure out what it stood for (Autosomal Dominant Acute Necrotizing Encephalopathy)”.
Rosie grew up as a bright and normal kid. She tested into kindergarten at 5 years old. She loved to learn about anything and everything that she could. She could tell you anything you wanted to learn about the solar system, ocean animals, and especially her bearded dragon. She has the spirit and spunk of no one else.
In February of 2020 our family was getting ready for our first trip to Disney. Rosie was so excited; she could not wait to meet Rapunzel. A few days before we were leaving Rosie came down with a fever. Our family was pretty careful with the kids and fevers, I was told that I was a carrier of a disease that kids under the age of 6, when they got a fever it could lead to them being mentally handicapped. That’s all I knew and even in researching it couldn’t find any information. We made sure that we were rotating Tylenol and Motrin and keeping her fever down. She pretty much slept for the next few days. Her fever stayed down and we thought that she would be fine to go by the next day.
On Feb 7th we were getting ready trying to plan everything to be able to leave the next day. Rosie slept in late and Matt finally went to wake her to have her eat and see how she was feeling. She was resisting and he thought she was just really sleepy. He gave her 10 more minutes to rest and then went to wake her again. This time she got up but he could tell something was really wrong. When Rosie got up she was walking bowlegged and slurring her words. She was telling him that she couldn’t see and seemed very loopy. He called me immediately and met me to head to the ER.
I had my fears about the family disease, but I brushed them aside because she didn’t have that high of a fever and from what I knew when it happened the kids didn’t wake up. When I met Matt and Rosie at the ER, I knew deep down what it was. I saw how she was giggling and slurring her words. My uncle who is in his 50s had a case of ANE. He lives in an assisted living home and is mentally the age of a 5-year-old. The way that he talks, and his mannerisms were my clue in for Rosie. She immediately reminded me of how he is.
By the time that we were in the waiting room Rosie was completely unconscious. We tried to get her triaged and seen as quickly as possible but unfortunately there was a few people in front of us and after 15 mins of us waiting to see anyone we knew we couldn’t wait. We tried to talk to the receptionist to see if there was anything we could do because she needed to be seen, but unfortunately she told us there was going to be a wait because there was sicker patients. *HOW* Frustrated Matthew and I left the hospital and called the next nearest ER to make sure we would be seen right away. After speaking to them they told us to pull over and call 911 because this was a medical emergency.
We pulled into the closest parking lot and called 911. We had an ambulance meet us within a couple minutes and take us back to that ER this time straight to the back. The Drs there reassured us that it was probably her just being dehydrated or her sugars being too low. I told them about the family disease and all I knew. I only knew it was called ADANEs. I didn’t even know what it stood for, just that I carried the gene. The drs told me that they had never heard of it and that it couldn’t be that. I finally found an article I was able to show them and figure out what it stood for (Autosomal Dominant Acute Necrotizing Encephalopathy). When I showed the Drs the article, again I was brushed off. After running all their tests and trying fluids and sugar, they decided to do a CT scan. They came back and said they didn’t think they saw anything on the scan, but they were going to send us downtown.
When we got to Rainbow Babies I knew something was very wrong. They took Rosie and immediately started adding iv lines and had tons of Drs in the room. I had a Dr pull me to the side and tell me that Rosie had stopped breathing on her own and they had to take her to intubate her. They had to do an MRI because they suspected swelling and in order to be able to do that they had to put her on heavy sedatives just to be sure she didn’t wake up. They had to add different lines to be able to keep an eye on all of her vitals. I told these new Drs about the disease and they had genetics looking into it as fast as they could.
Rosie ended up being in the PICU for 13 days. She was in a coma for 11 days. Rosie was very up and down for the entire time she was in her coma. The Drs could not confirm that it was ANE until 3 days into her being in the PICU. What is crazy is that I literally gave them the diagnosis and that I was a carrier. They had the scans and could see that it lined up with the disease and it still took them 3 days to agree with what it was. I can’t imagine being a parent and not having a single clue of what it could be.
While Rosie was intubated, she contracted pneumonia and at a few points we thought we had lost her because her heart rate and oxygen levels would drop so low. The Drs still don’t know very much about this disease because it is so rare. We were lucky to have a Dr that did a study on our family when I was younger to have what little information I did have. We knew that a lot of children that had ANE didn’t make it.
The part of the brain that is mostly affected is the thalamus. The thalamus is the part of the brain that controls motor activity, emotion, memory, arousal, and other sensory/motor association functions. The Drs we had would tell us that they could see the damage but couldn’t tell how much there really was and how much would be affected. They couldn’t tell us if Rosie would ever wake up or if she did wake up be able to function at all. A big thing about ANE is the N stands for Necrotizing. Which is the brain literally attacking and killing itself off. This wasn’t just a brain injury that you could heal it was seeing what parts of the brain were killed off.
After a very rough week and a half, Rosie’s vitals began to improve. She was started on breathing trials and was taken off of the breathing machine for a day. The doctors discussed then removing her tube and taking Rosie off of the additional sedatives she was on. Rosie had her tube removed and her vitals stayed intact and she was taken off of the sedatives but still took another day to wake up. She was able to open her eyes and move her face but that was about all she could manage. We were over the moon and couldn’t be happier. We were moved out of the PICU and for a few days just waited to see what other improvements Rosie would make.
Rosie at this point was just very out of it. She couldn’t do much except sleep or just lay there. We had to be careful to not over stimulate her and keep things quiet and dark. Rosie started to become a little more aware and when she did, she would just cry. It was heartbreaking. At this point in time Rosie had a lot of dystonia (her arms and legs would just lock up). We had to have her in leg and feet braces every 4 hours to keep her from causing any permanent damage. Luckily Rosie is strong and a fighter. She was not going to give up. They started some small therapies and we would sit Rosie up, hold her head and let her look around. We started to try giving her small sips of water to check her swallow reflex. She started to roll her body around and make some more movement. The Drs decided she would be ready to move her to a rehab center, they just wanted to make sure she wouldn’t need a G tube.
Rosie must have heard that, and she started to improve with her oral therapy. The Drs gave us the all clear to move to the rehab center. With the Rehab center came a lot of expectations for Rosie to be able to move around and participate more than what she was able to at the time. Rosie was still really only able to move her head and trunk of her body when they did the initial assessment. We were put on the Minimally Aware program which was to teach us to take care of her as she was, to be able to take her home. Rosie wasn’t going to take that because the very next day in therapy she pushed herself up to standing and just took off from there.
Rehab was in no way an easy for Rosie at all, but she is so strong and pushed her way through the program. She was moved to the rehab program from the MAP program. Rosie would have some days where she would fight her therapies and would try with all her might to not go or participate. She would have amazing days where she would fly through her therapy and blow us all away with her improvements. The biggest thing for Rosie was that she was going to get that feeding tube out of her nose and she did not care what any of us had to say about it. I can’t tell you how many times we would wake up to her sitting in the bed just holding the tube in her hands looking so happy. We went from them discussing a G tube to Rosie eating in 4 days. Trust me she hasn’t stopped eating since!
Rosie loved her recreational therapy and getting to swim in the pool. Some days that was all we could do to get her to calm down. She was so determined to move on her own she flew to move her wheelchair around on her own to walking on her own. Speech took a while longer, but she worked to talking pretty quickly. After 2 months Rosie was able to come home! Not only did Rosie have to try to heal from all of this but she had to deal with all the Covid stuff as well. Halfway through rehab she wasn’t able to have any visitors, which included her family except for Matt and I. Rosie had a very hard time being separated from everyone but it was just one more obstacle she was able to overcome.
I am amazing by Rosie’s strength and determination she shows me every day. She is the strongest child and I strive to have the motivation and determination she has. I hope that we can spread more awareness of ANE. If we can have more awareness, then we can give parents the knowledge they need to help them move through the hard times. I know that I struggled with the fact that there is so little out on what to expect. There weren’t articles or very many stories about what other families have had to go through. I hope that if it were to happen to another child that their parent or family member might have heard of ANE and can tell their Drs about it.
We are now 6 months from when Rosie went into her coma and she is getting back to herself. She can walk, talk, jump and play with her sister. She is more emotional than before and still gets upset when she can’t do what she was able to do before. She can read, count, and tell you a lot of her old facts and still is soaking up what she can to learn. I am so proud of her and how much she has improved these last few months. I just hope that I can be like her and be Rosie Strong.