This smiling little boil is Nino, 2 and a half years old. “A little boy who breathes the joy of life, a little sun”, as she describes. But also a child with fragile health. “When he was a year old, his pediatrician noticed a lack of tone in the head. She advised us a physiotherapist who saw that he could not walk on all fours. »»
Starting to the normal evolution of a child, the family then begins a whole series of exams. “MRI tests, an appointment with a neuropediatrician, first negative tests, then genetic tests that take time …”
First of all a planned spastic diplegia
Other symptoms appear. When he doesn’t feel good, his legs become particularly stiff. Suspicions are then focused on spastic diplegia, a form of infantile cerebral paralysis that causes muscle stiffness.
But in January, when Nino has an appointment at the Charleroi genetic center, it widespread. “He has an episode of fever at 39.5 ° and finds himself completely paralyzed. Even if he then finds the use of its members, it directs suspicion towards the spinal cord. 3 weeks ago, he underwent two exams at the Saint-Luc clinics in Brussels. MRI and angiography of the spinal cord.
Doctors then discover these images, which show that his arteries are strongly distorted.
“His vessels are distended, swollen, twisted like spaghetti,” explains Christine. In medical jargon, we speak of a diffuse enlargement, called Ectasie, and a tortuosity of the arteries, with hyperhemia (increased blood supply) and edema (swelling) of the spinal cord. Christine popularizes: “Her blood vessels swell, deflate, and damage her marrow a little more every day”.
Such a rare and recent disease that it is not yet official
The medical body then immerses itself in the specialized literature and finally manages to put a name on its illness: arterioectatic spinal angiopathy of the child. Or a disease of the blood vessels of the spinal cord characterized by a dilation of the arteries in children.
A disease discovered only in 2022 by an international team of researchers based on several clinical cases in the United States and the Netherlands. It does not yet have a known cause and is so rare and recent that it is not yet officially recognized by the WHO, nor registered in the register of rare diseases in Belgium since Nino would be the first case with us.
From a few months to a few years
The news, Christine learns it last Wednesday. “It is the earth that falls on our shoulders. We are completely devastated, ”she says. Because this diagnosis is accompanied by a dark vital prognosis: it is incurable. “Doctors found only 8 children around the world affected, and it ended badly for 6 of them. The other 2, twins, had mutated genes that Nino does not have. It leaves us little hope. They told us that he would first become paraplegic, then quadriplegic. Then he will encounter pulmonary problems ”which will cause his death. On the few cases studied, the disease evolves quickly. “Maybe in a few months, maybe in a few years. But this usually happens between 3 and 6 years old. »»
For the past few days, the life of Christine and the whole family of Nino has therefore changed. “We feel helpless, but we want to move heaven and earth” to try to save him. This is why she decided to tell her story on Facebook, but also to contact us via our orange button alert us.
To appeal to parents whose child may have been poorly diagnosed with spastic diplegia, to prevent them. But also a call to researchers and doctors “who would have a start to the track or would like to try something. Here we are lost but we don’t want to leave our son like that without doing anything. »»
For his part, Nino suspects nothing. “He lives his life on all fours. He has never learned to walk but he goes to the garden with the older ones. He is super happy and happy. And when he’s not going well, we see that his head changes on the side. He then pulls himself with his arms because it is difficult to walk on all fours with spasms in the legs and by being hypertensive. »»
He should have returned to kindergarten soon, but “it is not possible and given his future, we want to take advantage of it as much as possible and do everything to keep a minimum of hope”.
