- Andrea Diaz Cardona
- BBC News World
The passage of time in our bodies usually appears when wrinkles and graying appear, as well as when muscles stand out and teeth darken.
On the other hand, what happens to our brain is usually less clear.
But what if the opposite happened?
journalist Carolina Roatta He faces a rare disease that affects his brain to the point where he is twice as old, even though his body is young.
BBC World tells his story.
When I turned thirty-two I felt like the queen of the world.
It was November 2012. I had finished my master’s thesis and had gone back to celibacy. I was studying at a university and just got my dream job as a journalist.
The day I went to sign the work contract, I arrived so confident I could control the tremor I had had for some time.
This signature was the last thing I could write.
I started shivering violently. First my hands and arms Beat like butterfly wingsThen my head and my feet followed.
I chose a routine modification. I stopped wearing sweaters and lace-up shoes, made friends with skinny jeans, and even hired a writing assistant for me.
At some point, I also started an audio diary to record everything that happened to me.
I resisted as much as I could, but after six months the situation become unsustainable.
I went through several 15-minute medical appointments. it’s normal. In the Colombian health system, you must go to a general practitioner so that he can order tests or refer the patient to a specialist.
In the middle of that a neurologist first saw me misdiagnosed He had idiopathic tremor and he sent me some medication for this condition. This medication eased me, but it did not remove the tremor.
Ironically, after consulting doctors, psychologists, and neurologists, it was the bioenergy doctor who thought about ordering me to take a test that would display images of my brain.
My father and mother accompanied me to the EMR exam. The next day, while we were waiting for the results, the technician called to ask if I was dealing with chemicals at my job. The pictures showed that my mind was drunk.
The rest of my family set off the alarms. They helped me get a private consultation with a famous neurologist. It wasn’t cheap, but for the first time I felt like someone understood what was going on.
The appointment took three hours, and the doctor did all kinds of tests for me: I had to touch the tip of my nose with my index finger, draw a spiral, make dolls with my hands, stand on one foot. In all of them I cracked and ended up sweating as if I had ran a marathon.
It was like failing a kindergarten entrance exam, but with the diagnosis as a consolation prize.
Thanks to the appointment and other specialized tests, the neurologist confirmed that I have Wilson’s disease. It’s a genetic oddity named after the neurologist who researched it, Samuel Alexander Kinnear Wilson, and it prevents my body from being able to process or digest copper.
¿copper? The same orange metal in the wires?
It turns out that copper is an element that helps us have healthy nerves and bones, and it also contributes to the production of collagen and melanin in the skin. The human body does not produce it, but rather acquires it through a lot of food.
Lentils, almonds, chocolate, avocado, lobsters… the list goes on.
The body breaks down these foods, and the liver processes the copper it uses and eliminates what it doesn’t need, usually through urine.
The problem is that those of us who suffer from Wilson’s disease, instead of processing and digesting copper, we see it So the body can not resist and collapses. The liver is usually the most affected, followed by the brain, eyes, and kidneys.
But my case is strange. Despite 32 years of copper buildup, my liver has been healthy. On the other hand, my brain reaches twice. The neurologist said it was similar to that of a 70-year-old.
I also had a copper ring around the pupils of my eyes, which is another typical sign of the disease.
On Wilson’s disease*:
- Most people are diagnosed between ages 5 and 35, but it can also affect younger and older people.
- the disease present at birthBut signs and symptoms don’t appear until copper builds up in the brain, liver, or other organ.
- Signs and symptoms vary according to the parts of the body affected by the disease. They may include: tiredness, poor appetite, or abdominal pain yellowing of the skin and whites of the eyes (jaundice) golden brown eyes (Kayser-Fleischer rings) fluid buildup in the legs or abdomen problems with speech, swallowing or physical coordination movements Uncontrolled or stiff muscles.
- to suffer from disease One copy of the defective gene must be inherited from each parent. If one abnormal gene is received, the disease is not present, although the person will be considered a carrier of the gene and it is possible for their children to inherit the gene.
sick for life
Now I had to undergo detoxification. Treatment consists of taking a drug for life chelating medicine This literally “exfoliates” the copper that accumulates in the organs and then removes it through the blood and urine.
The doctor explained to me that it would take some time before I got better, without specifying whether it would take months or years. He advised me not to look on the internet so as not to scare me and explained that symptoms would suddenly get worse at the start of treatment.
I came to believe that it would be brief and that I would resume my activities in a short time. The truth is that in my daily life He looked like some kind of “big kid”.
I went from being a super independent woman to being dependent on others in every aspect of my life. I understood it soon after the diagnosis, when my mom had to help me brush my teeth because I could no longer. I totally remember my eyes filled with tears as I opened my mouth and began to brush carefully.
I cried because I felt it I no longer have dignity. You cannot be an adult, an individual, or a person. This is how I felt every time I needed her help: She cleaned me when I peed, took a shower, helped me change my sanitary pads when I had my period, and dressed me.
After about a year, he reached the limit of permissible medical disabilities. No improvement was shown. The next step for them was to give me a disability pension. At first it seemed attractive to me: to be thirty-two, a salary for life, to be able to make time for my hobbies.
But the mirage had another side: being young and feeling useless, neglected in the world of work, down and doomed to earn the minimum wage in Colombia, which at the time was around $150. No., he himself, judged me to be dependent on others.
I was far from imagining it Rwata, my family name, you will save me. My paternal family is French and thanks to this legacy, I obtained dual citizenship, was able to study in a bilingual school and I speak the language.
That’s why France started to look like an option when we realized there was nothing we could do in Colombia but wait and count without much hope.
One of my sisters actually lived there, and I started investigating and found a reference center for Wilson’s disease located in Paris.
My dad, my little sister and me We decided to emigrate to join it. It was a difficult decision, but it was necessary.
At CRMR Wilson we have a team of professionals who have given us all the answers. Since Wilson is a genetic disease, they were able to diagnose both of my sisters before they showed symptoms.
We all have follow-up appointments, including exams, every six months. We also have Privileged access to medication and financial assistance To make up for my disability.
Since we arrived at the end of 2014, I have been trying to create a new life for myself. There was progress. Now shivering less, the ring around my eyes has disappeared and I’m completely independent again.
It’s been eight years since I accepted my difference: sick, weird, half Colombian, unemployed and now 40. not easy. I have tried different working projects but no progress. I have tried many love and life projects as a couple but They didn’t work either.
Today I’m still in build mode. I’m getting a new master’s degree (my revenge because in Colombia I could never support a thesis and they never gave me the diploma), I have a new love, I changed the project of having children to the project of having cats and I moved to a city near the sea, after accepting that living in Paris is difficult Especially when you are at risk.
but sure, The ending of my story is also rare. My diagnosis, treatment and follow up is far from the norm for those who live in Latin American countries.
In Colombia I was lucky: Wilson’s disease appeared on the list of rare diseases of the Ministry of Social Protection, thanks to the efforts of the Colombian Federation of Rare Diseases (Fecoer), and, fortunately for the pockets of patients, one of the drugs is covered by the public health system.
The problem in this case is that people It is diagnosed on timeThat is why it is difficult to get statistics on the number of cases, although progress has been made since 2020 thanks to a team from the University of Antioquia.
If I had no way of consulting a specialist familiar with the disease, it is very likely that I would have already died and my family was still searching for answers.
I have been aware of my privilege and have an activist side, so since arriving in France I have volunteered with the Wilson Patients Association and am now the president.
This support network is what kept me going. Through it I have been able to continue to share what I know how to do: connect, create relationships, help, and empower patients and their families.
I am also working hard so that in other parts of the world, including Latin America, rapid diagnosis, treatment and quality follow-up can be obtained.
For a while, I ran a Facebook group to connect with Spanish-speaking patients.
There was a lot of interaction, several people even contacted me on my personal account, one from Cuba, one from Costa Rica, another patient from Chile, one from Argentina, two from Colombia. All with harsh stories of not being able to access medication and a long wait for a liver transplant, which is the ultimate solution in Wilson’s worst case.
Three of these patients They died while we were in touch.
The experience that affected me the most was a Peruvian woman. Her husband fell ill and died early in the epidemic.
For several months they had no access to the drug and he died while waiting for a transplant. I accompanied her through messenger For three days while her husband was dying, sad to learn that the happy endings of Wilson’s patients are rarer than the disease itself.
If you have questions about this disease, need guidance, or if you are a health professional interested in creating a support network in Latin America, you can write to:email@example.com
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