Gauthier, aged 4, and his mother Eloise feature on the Rare Disease Day 2020 official poster. He is from Charleroi, Belgium and lives with the rare disease sickle cell anaemia, which affects 1-5 in 10,000 people. Gauthier likes reading and building things.
Gauthier was barely 3 months old when he was diagnosed with sickle cell anaemia, a specific form of haemoglobin disease, at a new-born screening. Sickle cell anaemia causes severe and chronic anaemia alongside complications such as fatigue, aches, vaso-occlusive crises, swelling of the spleen, infections, shortness of breath, and various other forms of inflammation.
After the initial diagnosis Gauthier had monthly check-ups and blood tests. The patience and availability of their doctor allowed for Gauthier and his mother to gradually become more familiar with the disease in a supportive environment.
A particular challenge for Eloise at the beginning was learning all of the new information and scientific vocabulary, at times it felt like learning a whole new language.
Gauthier’s disease is an integral part of his family’s life and has become part of their routine; he must take antibiotics twice a day, folic acid, HYDREA treatment and always be conscious of staying hydrated and healthy. There are many journeys to and from the hospital, specialist health examinations, blood tests, and transfusions. Eloise has had to take a lot of time off from her job to accompany her son to these numerous appointments. However, through these experiences Eloise has had the chance to meet wonderful people including Gauthier’s pharmacist and doctor who she can count on for anything.
“Support from paediatric teams, a doctor that listens attentively, a kind word from a nurse or special attention from a cleaning lady, all of these actions allow patients to feel human and like they belong.” – Eloise
For Gauthier, the hardest parts were the numerous blood tests and other injections (vaccines, catheter placement) and the long, uninteresting hours spent in the hospital. He enjoys the time after the hospital appointments when they go out to eat pizza or buy a new game the most.
Living with sickle cell anaemia has an impact on family and social life, for example avoiding going on holiday, not going out if it’s too cold and leaving social events early so Gauthier doesn’t get too tired. At school Gauthier is in a small class, and is often absent for medical appointments, but that hasn’t stopped him making friends!
The family also sees a psychologist who helps them put their problems into words and Gauthier to accept his condition as well as work on his emotional well-being. Since Gauthier was very young, he has been provided with books, documents, activities, and games on his illness, the human body and emotions. By speaking openly and honestly his family have helped Gauthier to gradually learn about his disease and how to talk about it.