30 Dec Alice’s Superhero Story
Alice is a SLC13A5 Superhero. Here are a few fun facts Alice’s parents shared with us!
- Name: Alice Geslin
- Age: 6
- Homecountry: Luxembourg
- Alice is simply a blessing, an ever smiling little girl, very sociable with green eyes and curly blonde hair
- Alice loves water, swimming pool and taking bath with her sister as well as playing with balls
- Her favourite song is “Moma Africa”, she loves dancing on it with her sister
- Alice’s favourite story is “Leo and Popy”
- She is in love with buses, seeing them as well as traveling around in a bus
- She is a VIP in our neighbourhood, everyone knows her
- Alice loves going to school, she likes her teachers and colleagues
Alice’s Medical Journey
Alice came to the world after a pretty standard pregnancy. A few hours after her birth, while breastfeeding her, she turned blue and nurses thought she did not swallow appropriately. Past this episode, two others followed in the coming hours which lead to the doctors’ decision to transfer her to NICU and start an antibiotics treatment for what they thought to be an infection caught during delivery. Her situation did not improve and she had difficulties breathing so the doctors decided to transfer her to another hospital where she was diagnosed as having seizures. Her seizures were so bad she was intubated. We were completely in shock and instead of celebrating life we found ourselves living a nightmare.
Doctors started giving her antiepileptic seizures but nothing seemed to work, she was seizing all the time. In her second day of life, one NICU doctor told us to be prepared for the worst, even for her death. In the coming weeks, many tests had been done (for genetic, metabolic diseases) and we were sent abroad to Germany, Belgium or France, however nothing relevant came out. Doctors were blindly advancing with medications trying to master her seizures. After 4 long weeks we had seen hope from one IV anti-seizure medication. Another 3 weeks passed and a successful transition could be done from the IV medication to the oral one.
We came home with one anti-epileptic seizure and we enjoyed a quiet period of 4-5 weeks. Then seizures started up again, and we added medication after medication but nothing seemed to work to get her stable. We were taking regular ambulance rides as home emergency medications were not successful to stop seizures and we were obliged to arrive at the ER to have an emergency IV medication to stop the seizures. We were regularly admitted to PICU, sometimes for shorter stays sometimes for longer periods…she also had to be intubated again. We had tried seeing well known specialists in Belgium and France, and we were having lots of hope to have her seizures under control, however nothing seemed to work. After 19 long months we finally received a diagnosis. We felt relieved to have a diagnosis and then lost to see how rare this was. We now had the answer to our problem, but we did not know how to fix this problem.
We started seeing some light when she was 3 and we discovered an amazing doctor in Strasbourg, France. She literally saved our Alice. When we arrived in Strasbourg, Alice was having more than 200 seizures per day. She introduced a new medication for Alice, she removed others and little by little her seizures were much better controlled. Sleeping also became a big issue with Alice. Until she was 4.5 years old, she woke up all the time, even 15-20 times a night. Our new amazing doctor helped improve Alice’s sleep as well.
For Alice, 2021 is the best year of her life—seizures are under control and she enjoys a long seizure-free period. We really pray this will continue to remain stable and we are grateful for every day seizure free. Alice is continuously improving, and we regularly go to France for intensive Cuevas Medek Exercise training and now at 6.5 years old, Alice amazes us and she takes her first steps. She has a charged program with many therapies every week (horse riding therapy, occupational, speech, physiotherapy). She is currently on 3 anti-epileptic seizures and other vitamins to help her seizures’ control. Despite the many challenges she faced in her short life, Alice ALWAYS continued to smile and this literally saved us and gave us the force to move forward and battle for her. Alice is definitively our hero and warrior, an inspiration for all of us.