June 21st is not only the day of Fate de la Music, it is also World Day Charcot disease. Leah Stavenhagen, 29, told us about her exceptional fight against the disease. This Franco-American was the first patient in the world to benefit from an experimental treatment in the United States 18 months ago that stopped the evolution of his disease, which he was diagnosed in 2019. Here’s her running but full story optimism for all patients.
The first symptoms of Charcot disease
“I was still a student in 2018. I traveled to Lebanon several times with my class, my boyfriend lived in Singapore. I was very mobile. But one day, at the student hostel, I woke up with a cramp. It’s all this discomfort. It started with this pain in the lower limb. At that time, it did not warn me at all. I continued my life.
Six months later, my family came to visit me. It was a very busy time, I had a lot of activities, I was very stressed. That week, I read three times: My legs could no longer hold me. I especially remember one time when I tried to catch a bus at full speed and I fell in the middle of the road. Again, I didn’t panic: I put it under pressure and fatigue.
Some time later, I was on vacation with my family in Israel. I remember a vision with many steps and I noticed that I was much slower than my two younger sisters. This forced me to go to a doctor: I was sure I only needed a few sessions of physio. Worst case scenario, I was thinking of minor surgery to correct it. But I never thought the problem could be nervous.
Diagnosis of Charcot
I then make an appointment with my doctor who examines me. He realizes that during the reflex test, my body does not respond when you tap the knee with a little hammer. For this reason, I was told that I needed to consult a neurologist and they gave me a prescription.
The neurologist has forced me to do many tests: touch my nose with one foot, on the other, finger. He goes to me for most of the demands, nothing but heels me. After this clinical trial, I was sent to run a test battery: Blood test, EMG electromyogram… I think Charcot’s disease tail was already on his head, but all other speculations have to be disproved.
So I ended up doing this EMG: the goal is to stimulate different muscles to see the response in the brain. This is a very strange experiment. They place needles all over the body, even on the tongue and install sensors so that the machine knows what muscle activity is. It’s not pleasant. Once the results were received, I was told that I would have to return to the neurologist very soon. The latter tells me about Charcot’s disease.
I have not heard of this disease. I tell myself I certainly don’t understand because I’m not a French speaker. As far as treatment is concerned, I have been told that there is only one treatment on the market that is not really effective, release. When I left the advice, I was shocked and I’m not sure I understood everything. I read in Google that it is a disease Progressive and fatal neuromuscular disease is characterized by progressive death of motor neurons, which control, among other things, walking, talking, swallowing, and breathing. I understand that Stephen Hawking Disease, With low life expectancy. It’s so scary! I am 29 years old and I am broken. I was planning a big trip with my friends and your whole life turned upside down in a split second.
I wonder why me? We never imagined that this could happen to us, especially at such a young age. I was then told that the source of this disease was unknown. It is also called Charcot disease sAmiotrophic lateral chlorosis, May be hereditary, but it represents only 5% to 10% of cases: mutations in different genes cause this disease. In other cases, it is random: no heredity is effective, although a genetic mutation may also play a role. It is a rare disease that currently affects 5,000 to 7,000 patients in France (about 1,000 new cases each year), with an annual occurrence of around 2.5 per 100,000 inhabitants.
Charcot is an experimental treatment to slow the progression of the disease
Then the disease continues to grow. Leaving HEC, I had to stop working. I was in a wheelchair and my relatives had to take care of me for all the daily chores like combing my hair or drinking. It is a very complex disease. You may have other symptoms related to speech, lower limbs, spine, brain, even if I don’t have any. Until the end of December 2019, I had a chain of tests, hospital stays and medical tests. It took a long time to diagnose the final disease, because we really wanted to rule out all other possibilities.
Since my family was in New York, we consulted with specialists there, where I was offered an experimental treatment. I started in June 2020T-reg stem cell injectionWhich I get every month. Since then, the disease seems to have stopped progressing, which is very encouraging. Other patients have begun to follow this treatment, which will allow us to learn more about its effects. If the treatment is free, I have to pay for travel to the United States. I’m lucky to be able to afford it but not everyone can afford it.
Evidence of hope in the face of illness
Today, I am crippled in my limbs, but without this treatment I would have died earlier. I can easily communicate with the people around me and raise awareness. I was able to marry my partner Hugo in 2020 and I continue to follow an almost normal life for a young woman my age. When people ask me how I can be so funny, I answer that I have no choice, so I stick with it and enjoy every moment of life. When we talk about some disability or serious illness, we talk about how difficult it is. It was important for me to emphasize through a book that this is not the only thing. My life is still very beautiful. I’m not just my illness. It’s a small part of me. Probably the hardest thing is not being able to plan for the long term, like events Start a family. But I still hope to recover, so who knows. “
Despite having a lifespan On average 3 to 5 years, from the moment of diagnosis, Leah never gave up. With great insight and humor, he gave this testimony of hope for all those suffering from Charcot disease and, more broadly, for all patients suffering from chronic illness. Thus he formed his association to support the study of this disease. His full story can be found in his book I want to dance again (Islands version).