What made Lisa mature faster – too quickly? -, it is probably the neurodegenerative disease from which she suffers, in this case Friedreich’s ataxia diagnosed when she was only a 9-year-old girl. “It’s a degenerative disease, so it only gets worse over timeLisa says, in a calm voice. So, now I’m gradually losing mobility and motor skills: that’s one of the symptoms, just like the loss of sight, hearing, speech… The disease also affects the heart and posture, which also caused scoliosis“. Difficult to continue with these words coming from the mouth of a pretty young girl in the prime of her life but with great lucidity. She continues: “The development is gradual, but it really varies from one child to another. We can’t say: at 10 years old, that’s how it is! Doctors do not make precise predictions. But normally, three to five years after diagnosis, in principle, you can no longer walk. I was diagnosed more than six years ago. But I still walk. This is proof that it varies greatly from one person to another.”.
When I was little, I often fell
But before that, there was a little Lisa who remembers having “grew up a bit like other children“. “A bit as if I didn’t have an illnessshe told us, before correcting herself. But I still fell often. If I ran, for example, I could fall. I really had balance problems. I noticed it at the gym where I couldn’t walk on the beam. I entered a room where there were a lot of objects, I dropped some. When I was little, it was difficult for me to walk with a glass full of water without spilling it.”
Jeanne, 11 years old, has brittle bone disease: “If someone pushes me, it’s a little more serious than for other children”
It is the second primary school teacher who will point out to the parents the abnormality of the situation which will lead them to consult specialists in August 2017. One of them has a genetic test carried out for the parents and the child . In February 2018“the test reveals that both parents carry the defective gene that was passed to the child“, specifies the specialist doctor. “This disease affects one in 50,000 people“, intervenes the mother before, in the process, Lisa blurts out: “It’s no luck’s fault!“.
It therefore took approximately six months for the diagnosis of Friedreich’s ataxia to be made. “With genetic testing we came across it quite quickly, relate Name. Especially since several points have put doctors on the trail of the disease. There was the loss of balance, confirmed by small exercises, a heart murmur, and the nerves that did not respond quickly enough. With these elements, the neurologist already knew what disease Lisa was suffering from. But he needed a genetic test to confirm his diagnosis.“
That day my world fell apart
When the implacable diagnosis falls, curiously, the family continues to live more or less normally. “Following the shock of the diagnosis, I lived in denial for the first year. Apart from the two physiotherapy sessions per week, at the beginning, for about a year, we pretended nothing, we continued our usual activities. We didn’t really realize what was happening. admits the mother. And since I’m a really, really positive person, I was sure it could be worked out. It was Lisa’s limitation and the evolution of her symptoms that made me realize the seriousness of the situation. And when I was told that by the time she was 15, Lisa would definitely be in a wheelchair and that her life expectancy was between 20 and 35, that day my world fell apart.“
If according to her mother, who was forced to stop working 4 years ago to take care of her daughter, Lisa followed an educational path, “like all children, except gym“, Lisa would like to correct: “No, I’m not a child like the others because there’s the clinic, the physiotherapist, the absences from school… Before being diagnosed, I was dancing, basketball, cycling, scootering… Then, the disease caught up with me. Instead of sports at school, I started having to take physiotherapy sessions… Around the age of 12, my health really started to deteriorate.”
Hope in a clinical trial
Entry into secondary school also corresponds to the moment when the adolescent is included in a clinical trial. Since 2021, she has participated in a double-blind study taking place in Paris. Today, looking back, Lisa is convinced that she did not receive the placebo but rather the test drug, which aims to slow down the disease. “I’m pretty sure I got the medicine because since I’ve been taking it the disease hasn’t progressed much. Normally, today, I should no longer be able to walk… And I can still move around, even if my walking is wobbly and if I need to be supported for long distances, because my legs are giving out. Besides, when people ask me what’s wrong with me, I simply answer “foot pain and difficulty walking”. Nothing more, except to my real friends to whom I explain my illness. In fact, it’s a bit like walking on a mattress all day, trying to find my balance. Going up the stairs is fine, but going down them is complicated. And when I want to have a glass of water, it’s like I have mittens. The arms are fine too. It’s more the fine motor skills that are a problem. Doing my laces, fastening buttons, it’s not easy and it’s going to take a lot of time but I can still do it.”
Lisa continues : “My speech has also deteriorated a little. If I speak softly, it is to save myself because I am constantly very tired. At times, I only go to school every other day. Sight on the other hand, it’s ok. I see normally, sometimes I tell myself that I’m lucky when I meet young people my age with Friedreich’s ataxia and who are in a hundred times worse condition than mine. , in a wheelchair for years and almost unable to speak. I know that this treatment from the clinical trial will not cure me, but if at least we can slow down the progression of the disease and if I could maintain as much health as possible. my current capabilities would already be that. And then, it would perhaps allow me to have access to other clinical trials and new drugs… Because, it’s hard to say, but the day I won’t. I won’t be able to walk anymore, I won’t be able to be a candidate for clinical studies. That’s why I keep moving, to stimulate my muscles and give myself every chance. Now I also do physiotherapy four times a week, which maintains my condition. I have to be constantly moving so that my walking doesn’t deteriorate.”
“My parents didn’t see me smile for almost ten years. It may seem like a small thing, but it’s a lot”
So, when Lisa is asked to sum up her state of health in one word today, she smiles and responds with a shrug: “It’s blah!“. The mother completes: “In fact, fatigue plays a very big role. There are days when things go really well, then other days when everything is very complicated. It must be said that at school, everything has been put in place to make life easier for Lisa. It’s really great. On the other hand, in terms of daily assistance, the same cannot be said. We really lack information and support.“
I was very angry with my parents
Then there is obviously also the morale of a flirtatious teenager who loves fashion, makeup, singing… Lisa’s mother may say she is resolutely positive, but she also recognizes that her daughter has had major periods of anger. If Lisa now tells us that she is feeling better, she also tells us quite modestly that “it was complicated“. At first, “I don’t know if it’s a lack of knowledge, but my parents didn’t inform me well about the disease. When I learned, late, for myself by researching on the Internet, the seriousness of my illness, I blamed them. At first I just thought I was going to limp a little and that I was going to go about my life normally. I only knew a year and a half ago that I had a life expectancy of 35 years and that I could end up in a wheelchair. My parents didn’t tell me anything. I was super angry because I had tried to plan for myself, what I wanted to do later and everything. When I learned all this, I didn’t say anything at first. I isolated myself; I no longer spoke to anyone. Then, I got very angry with my parents, because they hadn’t explained anything to me. And because, for me, it was their fault since they had passed on the gene to me. In fact, I was angry with everyone.“
“These will be the worst months of our lives, spent wondering if we had one, two or three disabled children”
And now ? “I’m still a little angry, but I’m getting better, even if I still haven’t accepted my illness. I can’t open up anymore. I feel like since I got sick, she’s a different Lisa. I was scared. To fall, to hurt myself… Before, I was carefree, hyper emotional. Now I am determined, less sensitive, cold, like a stone. Fortunately, there are my friends to surround me, understand me and support me. Ataxia opened my mind to certain things. Then, I remain convinced that we will eventually find a treatment and that I will not die from my illness. It is not possible otherwise. I would like to have a normal life, a husband, a child… In the meantime, I hope to be able to walk, my posture, and talk, because communicating, for me, is very important. What I fear most is failing because of my illness. A phrase I like to describe my life: What doesn’t kill you makes you stronger“.
Through “Words for Evil”, La Libre has chosen to give voice to people affected by various illnesses, both physical and mental, common or rare. Meetings which aim to understand their daily lives, their difficulties and hopes, to share their outlook on existence. It is also a way of reminding us that no one is safe from these accidents of life. This series can be found every other Monday on our site.
