Anna’s Story

Hi! Can you start by sharing a little about yourself and your family?
Our lovely twins Anna & Maria were born 3 weeks early in 2016. We live in a town in Germany where both of us grew up, and where the rest of our family also lives. Anna is affected by ADCY5, but since they are fraternal twins and don’t have the same DNA, Maria is not affected.

The twins have an amazing sibling relationship. Anna is more sensitive than Maria, but she is also the tough one, always going first when there is something new to try. She loves everything risky: fearlessly going down the slide, swinging as high as possible, and sledding in winter is never fast enough. She is a very happy child and welcomes everyone with her big smile and shiny eyes. She loves to giggle and laugh with her sister. Sometimes we don’t even know why they are laughing, but they won’t stop. Maria has an amazing social personality and always takes care of her sister, making sure everybody gets treated equally and feels comfortable. To have a sibling her own age has really motivated Anna — she has big ambitions and never gives up before she reaches her goals. 

Can you tell us about the first symptoms you noticed?  When did you first realize there might be something different or unusual? 
When the twins were about 7 months old, a difference in their development became visible. Compared to Maria, Anna was not able to sit by herself, in fact she was not even close to sitting. Our pediatrician didn’t worry about this development difference, as it is quite normal for twins and kids this age to reach milestones at different times. At the age of 10 months, the gap between the twins got bigger, so I arranged physical therapy (Vojta-Therapy) for Anna twice a week. At their 1st birthday, Anna was only able to sit passive which means she needed support to sit up straight. Her body was very floppy and she had no strength in her upper body. However, her hands were balled very often and we could not make her open them. At the same time, Maria started to walk and the gap between the two was so obvious that we realized it wasn’t just a normal development delay. Anna also wasn’t babbling like her sister with a few syllables or short words you could understand. She also had more and more problems falling asleep. She would be very tired, close her eyes and turn around for a few minutes, but suddenly she would wake up and start moving again. Sometimes it was so bad that she would cry because she was so tired and just wanted to sleep.

By the age of 1 year and 3 months, Anna started crawling, but we noticed that every now and then, as she was trying to move forward, she would suddenly fall flat on the floor, start twisting and cramping, and her face would make random grimaces. This mostly happened when she had some strong emotions like happiness, excitement or anger, so we thought her body was not able to process the orders from the brain and was overwhelmed.

In May 2018, Anna had a really bad period like she never had before. It would start in the evening, and continue throughout the whole night. She was not able to fall asleep at all. It would just take a few minutes before another attack of twisting would wake her up. She would turn and throw her arms, was mewling and could not find any rest. The attack and twisting would last around 3 minutes then stop, at which point she’d try to fall asleep again, but it would start all over again 10 minutes later. It could take up to 2 hours until she would finally fall into deep enough sleep to no longer suffer from new attacks. Sometimes she would wake up in the middle of the night and we would go through the same process again. We had two nights in a row where she didn’t sleep at all and we stayed with her on the couch all night, rocking her in our arms, but nothing helped. That was when we realized it could not just be a development delay or laziness, so the marathon between different doctors and hospitals started.

To describe how I felt as a mother is difficult. On one hand, Maria was developing normally, hitting all the milestones easily and seeing great improvement. On the other hand, Anna missed her milestones, fell more and more behind and struggled with daily processes. First, I refused to accept that this was more than a development delay, and still hoped that with good physiotherapy and osteopathy it would all work out. I started to get angry and sad when people would say that Anna was probably just lazy. People who knew her and watched her could see that she was always trying hard and never gave up. Before she got diagnosed with ADCY5‐related movement disorder (ADCY5‐RMD), I was always hoping this was just something that could be treated with medication, so that Anna would catch up and all would be good again. 

“I wish for Anna never to lose her motivation, courage and optimism. For her to live her life as autonomously and independently as she wishes to.”

What was your journey to getting a diagnosis? What specialists or testing did you go through, and how long did it take to get the result?
Even though doctors were sneering at me, I fought hard until they finally sent us to a neurologist. We had our first appointment in July 2017. He couldn’t find any abnormalities and her cognitive development was absolutely normal. She had slightly noticeable club feet (talipes equinovarus), but nothing else. The neurologist sent us to the endocrinologist, but he didn’t find anything either. After that, we had an appointment with the geneticist, who checked Anna for visible signs of a genetic defect and took some blood samples. No abnormalities were found, all chromosomes were normal.   

So back at the neurologist, they sent Anna to the MRT, did a lumbar puncture, endless blood tests, EEG, urine tests and so on... all without any outcome.

In May 2018, we wanted to get a second opinion and got an appointment with a very renowned neurologist: Prof.Dr.med.A Merkenschlager at the University Hospital Leipzig. He became Anna’s doctor from that day on. Long-term hospital stays followed one another as Anna had more and more attacks with shorter breaks in between, and more sleepless nights. They did more tests and started trying some medications. It turned out that Diazepam was the one medication which was able to ‘knock out’ Anna and give her body a chance to rest for about 2-3 hours. In that same period of time, they took blood samples from Anna, my husband and I for a genetic test — and they warned us that the result could take up to one year. Luckily, our neurologist told the laboratory to check first for 5 specific genetic defects, and ADCY5 was one of those five. Thus, 3 months later on August 20th, 2018, Anna got diagnosed with familial dyskinesia with facial myokymia. It’s a genetic defect called ADCY5‐related movement disorder (ADCY5‐RMD) with the variant c.1252 C>T, p (Arg418Trp) heterozygous de novo.

Describe how you live with ADCY5‐related movement disorder (ADCY5‐RMD) day-to-day: how is your routine similar or different to others? What are some ‘wins’ and ‘lows’ right now?
Anna and her twin-sister to to preschool together. In the morning, it is quite stressful to get the kids ready as I have to go to work and my husband has already left the house. Since the wiggles are quite strong in the morning, it takes about 15 minute for Anna to start her day after the first dose of caffeine. She needs support for most of the daily routines like eating breakfast, going to the toilet, brushing her teeth and getting dressed. She tries everything on her own, and on good days she is able to do a lot, but on weaker days, she just needs a bit more support and time compared to her sister, who is very independent. When I get everything packed for preschool, I need to remember some important stuff for Anna as her medication for the day and her orthotics. When we finally make it into the car, I also have to take her wheelchair and walker with us. We had to buy a big Van in order to transport all of her equipment every day. Once we arrive at the preschool, Maria changes her clothes easily, drops their backpacks at their places and helps to put Anna’s clothes away. Then, Anna's assistant takes over and I quickly give her the day’s updates, like therapy appointments. Anna and Maria are in a small group of 10 kids and one teacher and, in addition, Anna has an assistant who just takes care of her, supporting her in all the daily preschool stuff. 

In the afternoon, my husband picks both of them up and takes all the equipment back to our house. Usually they take a small break, have a snack and watch some TV before they start playing together with toys, role-playing, or we go to the playground and have playdates. We always need to be more vigilant in case Anna needs our help or needs to use the toilet. At home, Anna can move independently: the twins’ rooms are adjusted so that she can reach everything and won’t hurt herself. However, at the playground or in unknown places, we have to stay with Anna the whole time as she is a super active kid who fearlessly wants to try out everything. We are always very attentive, as we might need to intervene at any time in case there is an obstacle or risky situation for Anna. Anna wants to keep up with Maria, which is good as she is challenging herself, but also shows her limits and can turn into a dangerous situation for her.

In the evening, we have dinner together and, depending on how heavy her wiggles are at this point, Anna might need support to eat with a fork or spoon. Just like in the morning, Anna also needs our support during evening routines like putting on her PJs, brushing her teeth and so on. Since she started taking caffeine, falling asleep is much easier for her and she no longer wakes up so often during the night. If she wakes up and needs to go to the toilet, she calls us as she cannot go by herself. If she has a bad phase with strong wiggles and cannot fall back asleep, we give her another dose of caffeine. Once the kids are in bed, I try to get organized for the next couples of days, arranging appointments for Anna’s therapies with the support of our parents and my sister. 

It took us 6 months to finally get the approval from our health insurance for essential equipment like a walker, a wheelchair and a therapy-bike, for Anna’s improvement. Anna is a very active child and always wants to keep up with her sister and friends so those things give her much more independence. By the age of 3 ¾ years, Anna started to improve her speech a lot and is now able to communicate better, integrate herself in groups, take part in role-games, and solve conflicts on her own. Now, at the age of 4 ½ years, her motor and linguistic progress is an amazing success for her.

We came to realize that improvements are not constant as this disorder “hits” in phases. Anna might be able to get around much more easily for a couple of days and suddenly, a bad phase hits her and she loses some progress. Nevertheless, we sometimes see great improvements over night. A tiny cold, fatigue or emotional events can influence her performance immediately. Usually, she recovers quite well from those setbacks, and continues with her improvements.

What are you excited about when you think of the future? How has your outlook changed (before and since the diagnosis), and what gives you hope?
When we realized Anna would not develop in the same way as her sister, we thought we would have to drop all of our ambitions of having kids, a family. But we did not. We adjusted our dreams and we are absolutely happy with our twins. Maria is our cheerful, very helpful and humorous daughter and Anna is our ambitious, strong and buoyant daughter who has a handicap. We stopped asking ourselves questions about reasons and destiny, as those thoughts are just energy-consuming and depressing. We have accepted our situation and cannot imagine life any differently. 

We want to experience everything like any other family, even if there might be some more barriers to break or detours to take. Anna might never be able to live a ‘normal’ life, whatever normal means. Most probably she will always need support and help in different ways. But in 2018, when she got diagnosed with ADCY5‐related movement disorder (ADCY5‐RMD), we never would have imagined just how far she’s already gotten by now: being able to get around with a walker, telling us funny stories, and surprising us every day with her cleverness. Despite her difficult start in life, she became a very strong, lightsome and cheerful girl who doesn’t question her life, as she does not know a different one.  

I wish for Anna never to lose her motivation, courage and optimism. For her to live her life as autonomously and independently as she wishes to. I wish for people to see Anna shining with her amazing personality, and not only see her handicap. I wish for research to find a medication or genetic-therapy to minimize the symptoms of ADCY5‐related movement disorder (ADCY5‐RMD).  But overall, I wish from the bottom of my heart that Anna and Maria keep their very special relationship for the rest of their lives, and know that their family will always support both of them.