Maria is the mother of Alice (5-years-old), who has SLC13A5 Deficiency. Maria and Alice live in Luxembourg, with Alice’s father, sister, and maternal grandmother.
A Day in the Life
Alice is our rare pearl – this is what we call her, since SLC13A5 Deficiency is so rare. Even if she can’t walk or talk, she reaches milestones at her own rhythm and she surprises us every day. As imperfect as she is, she is in perfect in our eyes, with her golden locks and green eyes.
Days with Alice are marathons. We wake her up every day around 8 am and get her prepared for school. She is a very smiling and happy little girl. As soon as she opens her eyes, she is smiling. We give her breakfast and her anti-epileptics (we start by feeding her by mouth, but if she is not eating enough, we finish her breakfast via the g-tube). We then brush her teeth and dress her up for school.
We load the car with her motilo (which helps her move around) as well as her on-size chair and we drop her off at school. Since last September, Alice has been attending a special school and she has a full schedule. She has daily therapies at school (physiotherapy, occupational therapy, speech therapy, swimming, etc.) and this helps us a lot, because then we don’t have to run her from therapist to therapist, which is what we used to do before she started this school.
Alice loves going to school and she loves all her therapists. After lunch at school, we usually pick her up (at around 1:30pm) to take her home for a nap. She usually sleeps for at least an hour.
Around 3 pm, we give her an afternoon snack with her anti-epileptics. We take her for a walk for an hour, and then we put her in the motilo, and she runs and plays with us for another one-and-a-half to two hours.
She usually has dinner around 7 pm (as with all meals, we start by feeding her by mouth and then via g-tube). We brush her teeth and we do calm activities before giving her evening anti-epileptic drugs, and we get her to bed between 8:30-9:00 pm.
Alice is a little girl who is in constant movement and needs our attention all the time. After her birth and because of her health difficulties, one of her grandmas moved in with us to help us take care of Alice. Her daddy works all-day long and her mommy works part-time (only in the mornings, when Alice goes to school). We try to organise our lives around Alice, but at the same time we try to take good care of our older daughter (7-years old) who also needs us.
Since we discovered Cuevas Medek Therapy almost 3 years ago, we regularly go abroad to France (every 3-4 months) to do Medek intensive training sessions. While we’re there, her physiotherapist teaches us exercises that we can do at home, and we try to do those exercises consistently. Medek therapy has helped Alice progress a lot.
Besides the daily routine, there are also regular medical appointments. Alice is cared for by two amazing neurologists: one in Luxembourg where we live, and the other one in Strasbourg, in France. We travel regularly to France to see her French neurologist, who helped with getting Alice’s seizures under control, two years ago. Some of the other doctors that we regularly see include: a great doctor who specialises in rare diseases for teeth, the doctor who guides us with her nutrition, the pediatric surgeon who changes her g-tube, and more.
Fears and Challenges
We will always remember that, in her second day of life, we were told by one of the PICU doctors to be prepared for the worst, even for her death. She was seizing all the time and it was difficult for doctors to control her seizures.
It has been a long road to get a diagnosis. It took us 19 months to get the answer and be settled with it. Being in a small country (Luxembourg), lots of the tests that have been performed are then sent abroad (to France, Germany and Belgium) for analysis. The answer finally came from Brussels, Belgium.
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.
Since Alice’s birth, the challenges have been constant and ever-changing. We have battled to get her seizures under-control (two years ago, she was having more than 200 seizures per day). We have battled to help her sleep through the night (until 8 months ago, she could wake up 15-20 times per night). Now, we battle for her to walk. We dream of the moment when she speaks, and achieving this part is the biggest challenge right now.
There is also always a fear of SUDEP. I truly hope and pray that Alice will be spared from this.
As of late, hearing the encouraging developments from the researchers is the best news in our life since Alice’s birth. Now, we can dare to dream that one day a cure could be found, and that that day may be sooner than we could have ever imagined.
TESS Research Foundation
At first, TESS Research Foundation gave us the opportunity to better understand Alice’s diagnosis, as we felt lost and alone when we first received it. It was also an opportunity to connect to other SLC13A5 families and realise that we all face similar issues and have shared experiences, and that together we could help ameliorate our little ones’ lives. Now, TESS Research Foundation means battling together to find a cure for our amazing children.
The Geslin Family
Alice’s big sister is very proud of Alice and celebrates her achievements. It is very funny sometimes how things are seen through the eyes of a child. One day, when we were out with both girls, Alice was in her motilo and our older daughter encountered one her best friends in a shop. Our older daughter told her friend, “She is my sister, she is neither walking nor taking and we feed her through a hole in her stomach.” The friend was like, “Whoa, how is this happening!” That is how it is to have a superhero sister. 🙂
Life with Alice is not how we had imagined/planned for when we were waiting for our second child; but we adapt, or we at least try to make the best of everything, given the circumstances.
Alice is the most smiling little girl in the world. She is happy and gives us lots of love. She is a blessing and we let her know this every day. She might be missing things to be a typical child, but there is for sure one thing she will never miss: love. Alice is so loved by her big sister, her mommy, her daddy, her granny, all her family, and her therapists.