At just three weeks, the diagnosis fell. Marius has rare Williams and Beuren syndrome, so he undergoes open heart surgery. Eighteen years later, he is fighting with a smile to have a normal life.
A rare genetic disorder that is said to have inspired the physical traits of elves in children's stories. Like these magical characters, people with Williams and Beuren syndrome are kind, sociable, solar, caring and smiling. This is the case with Marius, 18 years old and passionate about music.
This rare syndrome, which affects more than one in 10,000 children in France, is characterized by around thirty fewer genes on chromosome 7. “This developmental anomaly associates cardiac malformation in 75% of cases, psychomotor delay, evocative facial dysmorphia and cognitive profile and specific behavior”, underlines Brigitte Gilbert-Dussardier, Head of the Genetics Department at Poitiers University Hospital.
Open heart surgery
From the birth of Marius, his mother, Anne-Laure, noticed something different about her child. “When I saw him at the birth, I was surprised how thin he was. I knew immediately there was a problem”, She confides.
Soon, the doctors noticed that the newborn baby had a heart murmur. "We had his heart checked and told us it was serious, that he was not going to be able to come back with us, that he had to stay in the hospital under surveillance."
While these parents thought they had a healthy child, the couple's daily life changed. Indeed, the little guy has a very damaged heart and coronary arteries, symptoms suggestive of Williams and Beuren syndrome. "He couldn't have an operation for heart disease because he was too thin, he had to wait until he got a bit fat", remembers Anne-Laure. A year later, Marius slowly reached a weight of 8 kilos, he was then operated in the operating room for long hours, open heart. “Watching your child go through cardiology is really difficult for a parent, there is a before and an after ", she recalls.
"I was not prepared to have a different child"
After this long and complicated operation, Marius is slowly recovering in the intensive care unit at Necker Hospital in Paris. "I was not prepared to have a different child", says Anne-Laure, who remembers that no doctor had alerted her to this disease during her pregnancy.
Growing up, until the age of 3, Marius has difficulty eating and sleeping. A particularly complicated period for the couple. "Children with Williams syndrome do not sleep or eat, it is very difficult on a daily basis", confides his mother.
The little one still has heart and kidney problems, but also a fairly high calcium level, which prevents him from having a normal growth. Physically, people with Williams syndrome have similar physical traits. “They have very blue or green eyes with a pretty starry iris, they are not very big from birth. They can also have diabetes, thyroid problems and they do not have elasticity in the arteries which causes great difficulties ", indicates Anne-Laure.
A difference that Marius makes a strength
Marius grows up like all the other children… but at his own pace, he learns to walk around 3 years old and then to speak around 5-6 years old. He then entered kindergarten a little later than the others, with some difficulties. "I ran into a director who did not want to accept it but I did not give up and Marius got his chance", confides his mother. Then, the little guy learns fairly quickly to read and write in first grade. "He has a difficult writing, he has no reference in space and in time"
Marius continues his education in a public school, in a specialized class – called Ulis classes – from CE2 to 3. For certain subjects, children have the possibility of going to classes without children in difficulty to follow the course with them.
A healthy space in which he can thrive and make friends. “On the day he left, almost all the kids in middle school gathered to say goodbye to him, it was a great lesson in living in a society where inclusion is still seeking its place.”
People who must be supported on a daily basis
Today, Marius is 18 years old "But he has a development of a child of about 8-10 years", confides his mother. He joined a public medico-educational institute (IME) where he is helped daily by health professionals and volunteers. "He learns to live alone and become independent) under supervision, he learns trades, he tries to dress himself or even cross the street". He also does adapted judo and music. He is an excellent musician, most of these children have perfect pitch.
People with this disease are also psychologically followed. They quickly realize that the syndrome makes them different. They realize that they have more difficulty than others in successfully doing the same thing. Which makes them vulnerable. “We watch our health and morale a lot”, says Anne-Laure. On a daily basis, Marius does several sessions of rehabilitation, physiotherapy, ergonomics, speech therapy and fine motor skills.
An association to support people with Williams and Beuren syndrome
To help everyone in her son's situation, Anne Laure and another father have created an association called “Autour des Williams”. Together, along with other parents, they fight to raise funds to improve diagnosis. “The diagnosis only arose around the age of 7-9 years old a few years ago. Today it is more easily made between 1 and 3 years old which allows earlier and beneficial treatment for the follow-up of the child ”.
Today, healthcare professionals more easily recognize the symptoms of this syndrome, "Which is explained by a delay and above all, these are children who do not eat and who do not sleep until the age of 3, hence the importance of the diagnosis”. Nevertheless, Marius will always need to be supported. "He will not be able to work alone, he is clumsy and above all, he has to be in an inclusive environment", confides his mother. He is also very tired from his illness, and people with this syndrome are anxious and prone to depression in adulthood.
Despite everything, Marius surprises those around him from day to day with his strength and constant good humor. "It's a real ray of sunshine", emphasizes his mother. “I'm lucky because he expresses himself well and he walks, it's a different life but there is so much love. Even though there are extremely difficult times, there have been and will be infinitely positive things too ”, she concludes.
To support Marius and all those in his situation, visit the association's website.