ABOUT MAXINE
Bonjour,
My name is Maxine. I was born in December 2022 at Seclin hospital (59 - North) and aged 2 in March 2025 and am a little girl suffering from a very rare disease. Indeed, I am the first in France and the 25th in the world to have a mutation in the MCM3AP gene. The mutation of this gene is part of a group of diseases in the Charcot-Marie-Tooth family. It is a disease that mainly affects the nerves and lungs.
The disease is described by global hypotonia (rag doll), hyperlaxity (excessive elasticity of the conjunctions of the skin, muscles and joints, tendons, ligaments), severe cognitive disorders, no muscle tone, severe early scoliosis, torticollis from birth (head turned to the left constantly; with very severe plagiocephaly and deformation of the left ear), very hollow puck with drooping lower jaw, equinus feet (hollow feet and pointed like feet dancer) with shortened tendons.
But as if having a rare disease wasn't enough, I also have West Syndrome; it is a rare form of epilepsy which is described by infantile spasms (tightening muscles, eye revulsion). Which partly explains the cognitive delay. With each relapse, my development is reset by epileptic seizures. I was also blind until the age of 7 months (the message from sight was not sent to the brain). Since my birth, I have gone through a lot of unpleasant stages that you wouldn't wish on anyone. Repeated blood tests, MRIs, lumbar punctures, injections of high doses of corticosteroids and daily treatments to try to stabilize epileptic seizures... and so on. I have appointments from Monday to Friday, between speech therapy, physiotherapy and occupational therapy sessions, appointments in various hospitals, not to mention working with mom and dad every day.
My health is fragile and hanging by a thread. At the end of November 2024, I almost lost my life due to a simple cold. I was admitted to emergency intensive care and the doctors were pessimistic for my survival and prepared mom and dad for the worst. But fortunately, I is a fighter and got through it. Enough to teach a good life lesson.
I have gone through so many challenges despite my young age, that we try as best we can to improve my daily life. Mom had to take me on unpaid leave to take care of me, take me to various appointments, to the hospital, etc. Only dad works hard to provide for my large family (I have 2 sisters and 1 brother). Therefore, we ask for help from those around us to be able to bring our projects to fruition for my comfort and above all to help me become independent. My parents will not be forever and in today's world, when you have a severe disability like me, it is better to manage as independently as possible
.Following the advice of various specialists in the medical profession, arrange and create a space so that I can evolve and is essential for moving around in a wheelchair with complete freedom. For this we have major development work as well as the creation of a new entrance room for me because our house entrance has a big step, which prevents me from accessing it with a wheelchair. We must therefore make an entrance on the side of the house with a PRM entrance door, access with an electric gate to access with the car equipped with an access ramp (parking is difficult in our street and there is a lot of traffic, so no possibility of unfolding a ramp from the vehicle, because it is a good length). It is also necessary to install a bay that closes and opens from the outside to leave directly from the home without having to go through the main entrance door to close the house and leave me alone in the vehicle. We need to create a new bathroom on the ground floor with a floor drain shower and a disabled toilet with a height-adjustable, wheeled shower stretcher. To do this, it is necessary to insulate and arrange the outbuilding of the house, do the electricity, the plumbing (heating, cold water, hot water), move the electric meter to widen the passage to access the house and install an electric elevator (indoor elevator).The staircase does not allow an ordinary passenger lift so that I can access my room on the floor adapted to my disability and where there will be the creation of a sensory space to promote my development (with mats and motor skills modules to work on sitting posture, standing, rolling... in complete safety). We must put the floor of the house at the same level to be able to move freely in a motilo or wheelchair, enlarge a door to create an opening to have a passage at least one meter wide so that I can pass easily in a wheelchair. Not counting all the equipment over time that I will need (wheelchair for example)
