“We often hear it, but it's true: when a child is sick, the whole family's life is turned upside down. Enfant Soleil gives money to the regions so that children can have their examinations, treatments and follow-ups close to home. And that makes a huge difference,” say Èva's parents.
The first signs of illness
Èva was 2 months old when the first signs of the disease appeared. Shivers lasting one or two seconds, which intensify and last longer as the days go by. The little girl is hospitalized in intensive care at CHUS - Hôpital Fleurimont. The shivering intensifies further, lasting up to 15 minutes several times a day. We now speak of convulsions and epilepsy. The medical team subjects Eve to numerous tests over the following weeks to find out what's wrong with her: blood tests, lumbar puncture, CT scan, magnetic resonance imaging, and so on. But no precise diagnosis was made at the time. After 2 months in hospital and numerous treatments to control the little girl's epilepsy, the family was able to return home, but they had to administer several medications morning, noon and night, in addition to putting her on a ketogenic diet. “We were controlling the symptoms, but we still didn't know what the underlying condition was,” explains Catherine. Èva was 6 months old when the terrible diagnosis was made. Èva suffers from a rare condition caused by a spontaneous genetic mutation of the CDKL-5 gene: major hypotonia, intellectual disability, inability to communicate verbally and use hands, inability to move around, very severe epilepsy refractory to medication. There is no hope of improvement, no possible cure. Èva will never be able to speak, and will be totally dependent on an adult for the rest of her life.
Her parents are devastated by the news. Their lives have been turned upside down forever, but Dad has decided to “stay on his feet and carry the family forward”.
“I said to myself: nothing will ever be the same again,” recalls Catherine. Despite the immense pain and questions, they learned about the disease and did everything they could to support Èva and enable their two eldest children to live as normal a life as possible,” says her mother.
Facing challenges
“Together, we've faced a thousand griefs over what our daughter will never be able to do or ever experience. But we were able to pick ourselves up and reinvent ourselves as people, as a family. Today, I'm very lucky to have my beautiful Èva close to me. Despite her handicaps and limitations, she teaches us to see and appreciate life differently. I accept the situation as it is, and not as I would have liked it to be,” says her mother. Today, Èva's epileptic seizures are under control. She is still taking 4 different anti-epileptic drugs, three times a day, to limit the seizures, which still occur from time to time. But she can enjoy her days more, playing, taking part in activities, doing her physiotherapy, occupational therapy and speech therapy. Although other health problems have emerged in recent times, Èva's determination knows no bounds.
A source of inspiration
A fighter, she works tirelessly to gain muscle strength and perform certain movements. She is now able to sit up on her own and roll a short distance on the floor. Recently, she has been able to propel herself by pulling with her arms to fetch an object.
“Èva surprises us every day; she defies the diagnoses, and I'm sure she has more surprises in store for us,” says her father Jean-François. “Having our daughter as an ambassador for the cause gives meaning to what we're going through. And if our story can inspire and help other families, encouraging them to persevere and not give up, we'll be proud to have shared it,” says Catherine.
– Catherine Roy, Jean-François Nadeau, Félix (12 ans) et Laurie (11 ans)
Èva, a model of resilience
