At the end of the afternoon, Quentin is in a playful mood. Under the gaze of his countless cuddly toys, he plays with a small lamp that changes color on contact. The boy, who has just swallowed a hearty snack, has regained his smile, his appetite and a bit of vigor. Dominique, her carer, and Magali Rigault, her mother, savor this moment of respite. A few days earlier, Quentin had been hit by a storm. Not those that wet, rumble and electrify the sky. His is interior. And when it is triggered, it is manifested by a burst of epileptic convulsions that can last several days.
Quentin is 11 years old and has Fires Syndrome, an acronym (Febrile infection-related epilepsy syndrome) which translates to Epileptic syndrome by febrile infection. This drug-resistant disease can affect both children and adults and is manifested in particular by rare epilepsy, behavioral disorders and autistic disorders. The syndrome develops with no apparent structural, toxic, or metabolic cause.
Still, everything was fine
On September 26, 2011, Quentin was born in Aurillac, in Cantal, in perfect health. His early years glide over him, unhindered. He is even rather ahead of his age. Moreover, he does not hesitate to challenge his older brother and sister, Charles and Solène, during games of board games. Everything therefore seems to be on track for this little boy who is rarely ill, who comes to Bourges, with his family, in August 2015. But one day, on returning from school, Quentin complains of an illness that has both seized of his head, his eyes, his belly and his legs. An episode of fever weakens him a little more, but not enough to worry those around him too much. Until May 28, 2016, the eve of Mother’s Day.
“It’s about 7:30 a.m. Outside, it’s stormy. I hear small footsteps in the hallway. I get up and there I find Quentin lying on the ground, stiff, lifeless, in critical condition. I scream , I slap him. His eyes are wide open, his gaze fixed. But nothing is happening, he remains stiff. My husband calls the fire brigade, but I have the feeling that my son is obstructed. So, I start a mouth-to-mouth resuscitation. I feel that he is slowly catching his breath.”
Magali Rigault (Quentin’s mom)
When the firefighters arrived, the child was again seized with convulsions. The beginning of the rest of his life.
“Professionals are helpless in the face of this syndrome”
Hospitalized at the Clocheville pediatric hospital in Tours for two months, he was intubated and plunged into an artificial coma. During this time, he is subjected to a multitude of examinations. Lyme disease, encephalitis, the herpes virus are mentioned. But each of the tests carried out comes back negative. Everything is normal”. His awakenings sometimes even bring hope when he recognizes his loved ones. But the daily convulsions quickly call everyone to order. No treatment has proven effective. Worse, Quentin contracts a number of allergies towards them. “We were devastated, we did not understand what was happening to us, remembers his mother. It was as if he had been knocked down by a car. But, I kept hope.”
Until the day when the medical profession announces that Quentin will remain severely handicapped. “It was very hard emotionally to teach it to his brother and his sister. But, we quickly said to ourselves that we would do everything possible to ensure that he is as little handicapped as possible. A few weeks later, a diagnosis is finally delivered. He arrives from the Necker AP-HP hospital, in Paris, where the professor of pediatric neurology, Rima Nabbout, advances as one of the referents of the syndrome in Europe.
But in the meantime, Quentin sits, walks, eats… “It’s extraordinary, everything comes back, rewinds Magali Rigault. Beyond motor skills, he finds old memory and all his school level.” The green light is given by the Necker hospital, the young boy can find his “home” on July 20, 2016. Everything is back to normal. The only question comes from his behavior: the treatments make him aggressive. Whatever, he will be able to find his way back to school at the next school year.
Family exhaustion
But the disease returns at a gallop. The traditional school system quickly reveals its limits. Same observation when he joined the Localized Unit for Educational Inclusion (Ulis) of the Saint-Dominique school, in Bourges. The frequency of convulsions is too high (one storm every ten days). At each of them, Magali Rigault is called to pick up her son. “Professionals are helpless in the face of this syndrome: teachers, school life auxiliaries (AVS), but also psychomotricians, neurologists…” The disease frightens the workers who, very often, find themselves disarmed by the violence of its manifestations. . Illness is exhausting, too. Because with each crisis, all the progress made by Quentin is reduced to nothing. So we have to start all over again.
With the Departmental House for the Disabled (MDPH), the Rigault family is struggling to find a structure adapted to the state of health of their youngest. This is for the good of the child, but also of his close entourage. “Since the outbreak of the disease, everything has stopped for us”, breathes Magali Rigault who has never been able to resume her activity as a territorial civil servant. At the time of confinement, due to Covid-19, the mother confides that she was in a “state of advanced exhaustion, I no longer knew what to do. But we had to hold on for the older ones”. Hurry up.
In the Cher, the Épilepsie-France association wants to break down prejudices about a disease that remains unknown
After long months of fighting, a semblance of balance is beginning to emerge. Since September 2020, Quentin has been going to the Gedhiff Medical Educational Institute (IME), in Bourges, five days a week. A taxi picks him up from his home in the morning and brings him back in the evening. And in the event of a convulsion, he stays at the IME. A new neurologist, from Tours, also took part in this “renewal” with the development of a new treatment, much lighter, and the installation of a vagus nerve stimulator. This small device, placed on the collarbone, sends electrical impulses to the brain and is supposed to reduce the frequency of seizures by 50%, without side effects.
“We feel that Quentin is better, he has regained his smile. The frequency of storms is now one every thirty days. Since July, he has been able to eat with his right hand again. We feel that he wants play, communicate”, appreciates her mother who finds some time for herself. A few sports sessions and furniture thrift now punctuate his days with the hope of one day returning to work. But his dearest wish lies in research (since 2021, the Brain Institute, in Paris, has been interested in the disease in partnership with Yale University in the United States) so that finally “something stops this infernal cycle that degrades Quentin’s brain and that he speaks again one day.”
To help research
This disease is still very mysterious and little known. But since 2011, families confronted with FIRES can count on the support of the Paratonnerre association, the first in the world to have been dedicated to it. Through it, families can discuss the syndrome, its manifestations and the ways to deal with it. The other mission of the association is to set up research projects. “Today, research is at the stage of understanding how the mechanisms of the syndrome work, explains Rupert Schiessl, President of Paratonnerre. even inflammation, hence this infernal cycle that no medicine is able, for the time being, to stop. Over the past three years, the association has brought a certain help to research.” To go further and therefore have the hope that one day a treatment may prove effective, the association is looking for donations. For that, meet here. In addition, the association is looking for volunteers, even for occasional help, so that it can develop on social networks or organize fundraisers. Contact : [email protected]
Five questions for Vincent Navarro, head of the Epilepsy Unit at Pitié Salpêtrière Hospital, AP-HP, Sorbonne University
What is Fires disease?
A typical seizure often lasts a minute and is fairly stereotypical. It is a brutal event, but of short duration. Quite exceptionally, epileptic seizures may not stop on their own and last for minutes, hours, or even days. It is something extremely serious because, when we convulse, we often stop breathing. A seizure that does not stop is called status epilepticus. Fires syndrome may be a reason for this status. Regardless of the care provided, the condition will last for weeks. This duration is likely to weaken the brain because its cells do not like to be bombarded with neurotransmitters. Depending on the patient, there may be neurological sequelae. And the patient, although he was not epileptic and because he has some kind of scars in his head, can continue to have seizures throughout his life.
Is the diagnosis difficult to establish?
Yes, because this syndrome is a recent discovery. Until 5-6 years ago, it was more blurred. Having a specific term helps families a lot. They can approach associations to inform them about the disease, to give them advice on life organization and rehabilitation. This terminology is also important for the medical field, because it helps to raise awareness among professionals. I am a neurologist, but it is my resuscitator colleagues who are on the front line for the care of these patients. So it makes it possible to develop new treatments and research.
What is the mechanism of this disease?
Current hypotheses would be that there is an inflammatory reaction in the brain responsible for irritation and therefore for this prolonged crisis. This inflammation could follow an infection. For example, when a child contracts nasopharyngitis, his immune system is activated to destroy the virus. During a Fires, the immune system would go into overdrive and start attacking everything it sees and would release cytokines: these proteins participate in inflammation by acting as messengers to bring on even more inflammation.
Where is the research?
We are in the process of developing targeted therapy approaches that will attempt to selectively destroy cytokines. These drugs are beginning to hit the market, but were initially dedicated to autoimmune diseases such as arthritis. We are starting to see results, but there is a great need for understanding. For this, we are in the process of setting up a system for collecting blood samples from all these Fires patients to carry out sophisticated research on cytokines. These assays are very difficult and very expensive to perform. The idea would be to measure these dozens of specific small molecules to understand which ones need to be neutralized by targeted therapies.
Does this disease reduce life expectancy?
As it is a disease that we managed to identify only recently, it is difficult to give an assessment. I still want to say that, thanks to progress in medicine, we can hope that once the stage of resuscitation has passed, there will not be a real drop in life expectancy. On the other hand, there will be a decrease in the quality of life.
vincent balmisse
