Sophie Pottier (librarian) and mother of three children: Antoine (14 years old), Rafaël (10 years old) and Garance (1 year old).
After three miscarriages and an ectopic pregnancy, the 5th pregnancy was apparently progressing well. During an ultrasound (5 months), I was told that the little one was suffering from intrauterine growth retardation.
After a birth worthy of a nightmare (caused by a retro-placental hematoma), Rafaël was born by emergency caesarean section in June, 2010. I find that my baby has a small bird's head, he does not look like his brother, but I love it. In the maternity ward, the pediatrician, intrigued by Rafaël's (short and stocky) fingers, prescribed numerous examinations: cardiac and abdominal ultrasounds, x-rays of all the limbs, a genetic consultation was recommended without any explanation.
Fifteen days after his birth, Rafael catches chickenpox and chains childhood illnesses, he seems to have no immune defences. Infant, Rafael, suffering from internal GERD (gastroesophageal reflux disease), cries a lot and sleeps very little. He undergoes heart surgery at 7 months (persistent ductus arteriosus).
The months pass, I notice a delay in development and perceive that there is a problem without being heard by those around me and the doctors. We develop a close relationship, Rafael is so cute and endearing. Unfortunately, he does not perceive the dangers and is very stubborn, I have to protect him a lot and be extra vigilant.
A slight strabismus prompts us to consult a pediatric ophthalmologist, the latter detects a strong astigmatism and hyperopia. My child loves letters and numbers, at 18 months he knows them all by heart, it sometimes becomes obsessive. On the first day of school, Rafael's teacher refuses to welcome him in the afternoons on the pretext of "a difference" and asks us to consult a psychiatrist.
I have been thinking about autism for a few months, two of my cousins suffer from it. We follow up with appointments with incompetent and / or guilty specialists (psychologists and child psychiatrists) who accuse us of being responsible for our child's behavior, according to them his condition is the result of poor education.
Destroyed I then contact the Autism Resource Center. After six months of interviews and examinations, their teams diagnose an autism spectrum disorder with developmental delay (in June 2014).
In parallel, ENT reveals bilateral hearing loss (operation of adenoids and poses of yoyos). Rafael is growing little, the endocrinologist suggests taking growth hormone (6 bites / week), he begins treatment at the age of 4 years. Sensing a genetic disease, the geneticist wishes to see Rafael again when he is 10 years old, so we have to wait 5 long years.
At 7 years old, Rafael is operated on for a trigger finger, usually this pathology develops in the elderly. At 9 years old, the diagnosis of intellectual disability was also made. Many symptoms but little response, we contact the geneticist again.
Exome sequencing exam is performed in February 2020, 10 months later in December we learn that Rafael has Myhre syndrome.
On a daily basis, our child has difficulties: attention and behavioral disorders, learning delays, especially in autonomy, communication and interaction problems with other children (he seems not to have assimilated the social codes), complex management of his emotions and frustrations. It is not autonomous, in particular for cleanliness.
Rafaël has been followed for several years by two liberal practitioners: speech therapy and psychomotricity. After 4 years of waiting, Rafael benefits from the SESSAD system (Special Education and Home Care Services).
An educator trained in ABA psychology, intervenes at the school for complementary and cognitive remediation. On the school level, Rafaël has been in ULIS class (Localized Unit for Educational Inclusion) since 2016, the progress of our child is visible but the birth of his little sister and deconfinement greatly disturbed him in 2020.
ULIS college does not seem adapted to the skills and particular needs of Rafaël, a reception in IME (medico-educational institute) would be more adequate with his capacities, his disorders and his weak autonomy.
In France, we have an excellent social security system, many treatments are partially or fully reimbursed, such as medical examinations or all medical consultations. There is also an institution "House of disabled people" which, depending on the needs of our children, issues us authorizations (called "notification") and also allows us to obtain pensions.
The only problem is that the delays in obtaining answers from this institution are very long. For example, I had to wait 18 months to obtain an authorization simply to put my child on the waiting list in SESSAD or IME. Given the waiting times in IME (3 or 4 years since 300 children are on the waiting list!). We hope for a place for the start of the 2022-2023 school year otherwise Rafael will no longer be attending school.
In France, a registration does not mean a place. We must therefore always anticipate the future needs of our little ones and project ourselves into the future, which is not easy!
To conclude, Rafael is a smiling, very dynamic child who enjoys the company of others, he likes playing with boys and girls, and playing the Nintendo switch!