Colombia

HD families – Factor H

   First day with Factor-H in Colombia.

  I had the pleasure of meeting children, families and patients. All children have a connection with Huntington and are at risk.

  On the menu for this « Xtrem Camp » day, physical activities for children to promote inclusion through sport and the importance of being active.

  It was a beautiful and very emotional day. Meeting all these families and children living with this disease that haunts them touched me a lot. We understand each other, we support each other and above all we share because we are a big family, we are together in the face of Huntington’s disease. The Huntington family has no borders and we are all united by very sad life stories.

  Huntington’s disease is highly prevalent across many communities in Latin America. Geographical isolation and the individual histories of these communities have contributed to a prevalence of the disease that in some cases is 500-1,000 times higher than in other regions.

  The consequences of this high prevalence, and the poverty conditions in which these communities exist, have led to a situation that requires immediate attention.

  Poverty, ignorance and disease are a terrible combination that leads to inadequate healthcare, nutrition and living conditions.

  I am here all week with Factor H association, in the presence of Nacho, Roger and all the volunteers.

  Thanks to Factor-H for their contribution to the Huntington community and particularly here in Colombia.

  In 2012, Factor-H was created to help to improve the quality of life of people affected with Huntington disease living in extreme conditions of poverty and social neglect. They work with communities in Latin American most affected by this terrible disease. They want to change their conditions by providing basic assistance and provide resources for to improve their current living conditions.They also work to help new generations of at-risk individuals grow up.

   Day 2 Factor – H / Universidad Metropolitana

  Conference Factor-H and Huntington Disease at University « Metropolitana ».

  Ignacio (Nacho) Muñoz Sanjuan :
Director

-Description Factor-H
-Work in latinoamerica
-Differents programs
-Application « Cognoceme »
-Anticipation as a characteristic of the disease
-The future of new generations
-The impact on family

  Roger Cachope :
Vice President

-Introduce Huntington Disease
-Emotional disturbances in HD
-Clinical manifestations
-Scientific aspects
-Research trial

  Dimitri Poffé :
Exploreforhuntington project creator – Ambassador Huntington Disease

-Biking all around latin america by bike to raise awareness and funds for HD
-Meeting families, patients, doctors, Huntington network and making connections
-HD personal history

Deicy Echeverría Ripoll and her family – Saco, Colombia

  Deicy lives at risk with Huntington’s disease. Her Dad died of the disease and she therefore has a 50% chance of inheriting the defective gene.

  She lives with her daughter and family in the village of Saco. Her two sisters are also at risk of the disease.

  Here we work as a family, the mother and the 3 daughters sew clothes every day that they sell in Barranquilla. (A pair of shorts is sold for 2000 pesos, 0.54 USD) It’s definitely not enough to live and educate her daughter and they try to survive.

  Deicy is also a volunteer for the Factor-H association and she dedicates her free time to help the Huntington patients who live in her village.

  She is a very courageous woman and an example for her daughter.

  Thank you so much Deisy for your contribution in the Huntington community, you’re amazing !

Nelson – Saco, Colombia

Nelson has Huntington’s disease for a few years. He lives in the village of Saco.

He is already in a stage where he can no longer speak, barely walk, difficulty eating and walking. He spends all his time sitting on a chair.

What is very difficult is that he lives in precarious conditions. Huntington’s disease associated with poverty make things very complicated for patients.

Here there are no doctors to help him and he has no treatment. Fortunately, his niece, Julieta (his dad also has the disease), takes care of him.

Nelson is very brave and every day he fights against the monster of Huntington’s disease.

Bravo Nelson, you are impressive.

Nora and José – Piojo, Colombia

  Nora and José are siblings, live in the village of Piojo and have both  Huntington’s disease.

  They inherited the deficient gene from their dad. Nora is 35 years old and has been ill for 4 years. She is still good, speaks and understands perfectly. Of course she has a lot of involuntary movements but she is still able to do many things.

  What catch my attention about Nora, it’s her sympathy, despite the disease, she always has a smile and is very kind.

  Her brother, José, is in a much more advanced stage of the disease, he has been 40 years old and symptomatic for 8 years. He is already in a wheelchair and can not talk, walk and fall regularly. José is tall and strong, which makes the task even more difficult when it falls to lift it.

  José and Nora live with their mom, who takes care of both children.A very touching and inspiring story.

  My greatest respect for this family whose Huntington disease has been ravaging.

Maria Orladis – Juan de Acosta, Colombia

  Maria is 53 years old and has Huntington’s disease for 7 years. She is already at an advanced stage of the disease.

  The movements are very strong, she lost a lot of weight, can not talk anymore and barely walk.

  Maria lost a child in a car accident. She has two other children, one works in Barranquilla in a mattress business and her daughter already has a child and is currently pregnant.

  The disease literally devored her, she is in a really bad condition and it’s very sad.

  Don’t give up Maria, we are all with you and your kids.

Freddy – Valledupar, Colombia

  Freddy has 48 years old and living with Huntington disease since 15 years. He worked as a security guard.

  He is already in an advanced state of illness and spends days lying in bed.

  Freddy has a lot of involuntary movements and eating disorders. He can no longer speak, has severe cognitive and psychic symptoms.

  Thank you so much Freddy to open your door, it was a pleasure to meet you. I feel so sad because I’d love to help all those patients but I can’t do anything and It’s very frustrating.

  Be brave Freddy !

Edgardo – Valledupar, Colombia

  Edgardo is 51 years old and has had Huntington’s disease for 5 years.

  He is also an HIV carrier. A very difficult situation. Being sick with huntington is already very complicated but add another disease to that and it’s a real hell.

  Edgardo worked as a designer. He is still in the early stages of the disease and has few involuntary movements.

  In addition, he expresses himself very clearly and understands everything.

  It was a pleasure to meet Edgardo and we had a good laugh. I am aware that I cannot save these people, but to make them smile even for a moment and show them that we are thinking of them, that they are not alone, I think that is very important.  I can see in their eyes how happy they are to be interested in them.

  Thank you so much Edgardo.

Leila – El Díficil, Colombia

  Dilia Oviedo Oviedo is 85 years old. She had 12 children. One was stillborn. Of the 11 children that survived to adulthood, 6 have already died from Huntington’s disease. 2 more are currently in late manifest disease. Her husband died in the early 90s, and now a future generation is beginning to show symptoms. One of her grandchildren already died of HD. She has 27 more, most of them at risk…

  Dilia is a remarkable woman. We first met her in 2013, and hers was one of the first large Latin American families we ever visited. She lives in a family compound in the outskirts of a small town called “El Dificil”, in Northern Colombia (Magdalena State). As each kid got progressively sick, they all moved in with her.

  Most of her daughters were abandoned by their husbands, and they relocated too to be under Dilia’s care. Although she has plenty of experience caring for HD patients, it is becoming very hard for her to manage. Her family is poor, and receive little government support.

  At the time, she lacked access to fresh water, so we provided a large water tank to enable her family to work the land.

  She represents the caregiver, the woman who dedicates her life to caring for her family, and whom, against all odds, manages to bring dignity to those dying from Huntington’s disease. In 2017, Dilia and her daughter Maribel, who assists her dying siblings, traveled with Factor-H to the Vatican to meet Pope Francis.

  The disease spreads throughout families in rural areas where the lack of support and frank ignorance about the disease perpetuates a cycle of disease, fear and poverty. Women particularly need to be educated of their options and rights so that they can make informed reproductive choices.

Their story was featured in the documentary film Dancing at the Vatican.

Johanna – El Díficil, Colombia

  This visit made me very sad, Johanna lives in conditions of extreme poverty like many people here in El Dificil.

  She is a 33-year-old mother who lives alone with her children and has been sick with Huntington for 4 years.

  In her house, there is no floor, no shower or toilet, there is just a room with a bed and a stove.

  She can no longer cook because of illness so she has to eat out.

Gwladys, Gámez de Ávila – Santa Marta, Colombia

  Gwladys has 75 years old and living with Huntington Disease since 17 years.

  She inherited the gene from her dad and is already in an advanced stage.She has a lot of movements can barely speak and lost a lot of weight. It’s very sad to see her like that.

  Gwladys has 6 children, they’re all at risk even tho they still didn’t get any symptoms.

  The family do their best to help her and they all feel desperate. Unfortunately they don’t have any information about the disease and she doesn’t have any treatment.

  This is a typical Huntington’s disease situation. Lack of information, isolation, no specialist who knows the disease and the transmission of the disease over several generations.

  It’s very sad especially with poverty. They live in precarious conditions with few means and need help.

Jesús Carmona – El Algarrobo, Magdalena

   Jesús has only 10 years old and already living with Huntington Disease since 4 years.

  He has speech disorder, lack of coordination, difficulty to walk and muscles rigidity.

  Unfortunately he can’t no longer go to school because of his symptoms and as well the others kids are laughing at him.

  Jesus inherited the gene from his dad, Miguel Carmona, who he’s 38 years old and living with huntington since 7 years.

  Her mother, Elizabeth Cabarca, has 36 years old and had 9 children with different fathers.

  They’re 4 children from the same dad, Miguel, who has huntington. José Miguel, James, Jesús and their sister, Maria Carmona.

  Maria has already passed away at the age of 13 years because of Huntington Disease.

  The two others siblings, José Miguel and James, are still asymptomatic.

  This family is living in extrem poverty and definitely need help. If you want to contribute and help them, please, follow the link below :

  https://factor-h.org/

Enrique De Avilla Sierra – El Algarrobo, Magdalena – Colombia

  Enrique has 46 years old and has huntington disease. He developed the first symptoms 7 years ago.

  Her mother (pics above) passed away 4 years ago from the disease, she was 54 years old.

  Enrique has 10 siblings and only one sister got the disease until now.

  He lost his daughter who sadly died from an accident in a river, she drowned and was only 18 years old.

  Enrique is living alone with the disease, he only has a sister who take care of him sometimes.

https://factor-h.org/

Maria Alejandra Carmona – El Algarrobo, Magdalena – Colombia

  Maria is only 21 years old and has been living with Huntington’s disease for 5 years already.

  She is the mother of 3 young children and living alone taking care of her kids.

  They’re living in extrem poverty and do not even have access to basic necessities. She has a house completely empty without any chairs, tables or anything. She only has a broken fridge and somes stuff to cook.

  Maria inherited the Huntington Disease gene from her mother, Jenny who passed away at the age of 32.

  They are 6 children of the same mother but some have a different father.

  Her sister, Sharith, who’s 17 years old, has already declared the disease as well.

  Maria had her first child at the age of 15 and with the disease had to leave school.

Alex García Herrera – El Algarrobo, Magdalena – Colombia

  Alex is the brother of María Alejandra but they’re not from the same dad. They inherited Huntington Disease form their mother.

  He’s only 18 years old and already living with Huntington since 4 years.

  He has speech disorder, muscle rigidity, lack of concentration, difficulty to walk and somes psychiatric symptoms.

  Living in a farm, he started school later than others kids and today with the disease, he’s out of school.

  Thanks to factor-H, we realized Alex’s dream of having a red colored bike. He can now ride his bike around the village and having some physical activity.

  What we realize in these villages is that people have a lot of children and more with different spouses. As a result, the disease is transmitted to a large number of children and mixes in different families.

  They live in conditions of extreme poverty and don’t have anything. No doctors, no medicine and no information about the disease.

  People do not know what the disease is, the genetic and hereditary part and because of this continue to pass it without even understand.

  Likewise for children at risk, they have very little information about the disease and generally do not know that it is hereditary.

Medellín – Colombia

  I had a good time in Medellin !

  I met beautiful people, visited the city , had a interview with « Tele Antioquía » and participated to a bike ride with haemophilia foundation.

  In Medellin, there’s a lot of things to do :

-Comuna 13
-Graffity Tour
-Laureles, Poblado, Plaza Botero and city center
-Museo de Antioquía
-Metro Cable to Parque Arvi
-Santo Domingo, biblioteca España
-Botanical Garden
-Parque Explora
-Guatapé, El Peñol
-Parque Lleras
-Learn Salsa
-El Castillo museo
-Plaza Minorista Market
-Parque Berrío
-Museo de Arte moderno
-Mercado del río

  It’s a very beautiful city surrounded by mountains and the weather is good even tho we’re in rainy season and it rained every day.

  Now I’m traveling around the coffee area in the mountains and the landscapes are wonderful.

Next step : Cali, the world salsa capital

San José, Caldas

Today I had a fabulous encounter that I wanted to share with you.

I was having my lunch and started to talk with people. They asked me the basics questions « Where are you from ?, What are you doing here ? » So I talked about my bike trip and my project « Exploreforhuntington ».

We got to know each other and I learnt that they actually own a coffee farm here. They invited me to visit the coffee plantations and share with me their work. Besides that they even paid for my lunch, such wonderful people ! Thank you so much !

I had the pleasure to spent all the afternoon with them and it was a beautiful experience. I’m actually right in the middle of a coffee region here in Colombia and we can see entire mountain section full of coffee plantations.

In this farm, they produce limon, coffee and plátano. They export all the coffee in Europe or United States. They showed me absolutely everything and teach me about coffee, it was really interesting.

Colombia is famous for his coffee and even has the reputation to have the best coffee in the entire world. The secret ? A unique climate and excellent varieties. Many people depend on coffee here, it’s a huge business.

Fredonia

What I like about traveling by bike is discovering remote villages. I passed by « Fredonia » a few weeks ago, a beautiful village near Medellin.

Many times people worry about my safety, being on my bike all day and living outside at night in a tent.

But the reality is that outside the cities it’s really quiet, people live from agriculture, in villages and are often very welcoming to me. So far, I have never felt insecure at all.

Popayan

Even tho I’ve got sick all week, I had a really good time visiting Popayan.

Capital of the department of Cauca and located in southwestern Colombia. It has a population of 318,059 people and culminates at 1760 meters above sea level.

What I particularly like here is that it’s not too big as a city and not so small as a village, it’s the perfect in-between.

Besides that, Popayan has a lot of culture, a wonderful architecture and walls painted in white giving a unique atmosphere.

The weather here is perfect as well, it’s not very warm although we’re in rainy season and it rains everyday. But it makes me feel so good to get some fresh air.

It is also known as the « white city » due to the color of most of the colonial buildings in the city center, where several churches are located, such as San Francisco, San José, Belén, Santo Domingo, San Agustín, and the Catedral Basílica Nuestra Señora de la Asunción, known locally as « La Catedral »

Popayán has been home to seventeen Colombian presidents, as well as noted poets, painters, and composers.

The University of Cauca, one of Colombia’s oldest and most distinguished institutions of higher education, is located here, so Popayán is also known as the « University City ».

An earthquake hit the city on march 1983 which destroyed much of the city.
Though many were rebuilt and repaired, the heart of the city still has ruins.

In 2005, Popayán was declared by the UNESCO as the first city of gastronomy because of its variety and meaning to the Colombian culture.

Pasto

NoI am now in Ipiales, the border town with Ecuador.

Here are the figures for Colombia: I traveled 1886km and 20,560m of elevation gain, in total from Mexico I am at 4903km and 56,250m of elevation gain.

As you can see, it’s not really the distance that’s impressive, but rather the elevation gain. I spend my time climbing and I assure you that it’s very hard physically, I exceeded my limits many times.

I had the honor of participating in the election of the new Colombian president. For the first time in history a left-wing president was elected, Gustavo Petro.

These last few weeks have been particularly difficult because I have had a series of problems.

First I had an intestinal infection from a parasite and at the same time I had an inflammation of a muscle behind my shoulder blade.

On the flip side I had several problems with the bike, when I arrived in Pasto I noticed that the screws that fix the luggage rack were cracked.
No bike shops could help me so I had to hire an industrial welder, hope it holds up.

I also took advantage of being in a city to have the bike serviced and the brake pads changed.
The problem is that they couldn’t adjust my brakes and they broke a part. To apologize, they completely changed my front brake.

I took the road back to Ipiales, only 80km from Pasto and I lost the brake on the way.
Arrived at Ipiales, so I had to change the brake again.

The weather has also completely changed, now it’s cold (I’m over 3000m above sea level) and it rains every day. So I discovered the joys of being soaked to the skin, muddy and completely freezing on the bike while continuing to climb the mountain, endless slopes.

Finally, there are currently many protests in Ecuador, the state has declared a state of emergency and they have blocked many roads.
I therefore hope to be able to cross the border soon, although most people strongly advise me against it.
Anyway, I have no choice, my Colombian visa expires on June 31.

Apart from that, the landscapes here are wonderful, I’m surrounded by mountains and I only cross waterfalls, rivers and very impressive mountain ranges, it’s really beautiful.

Nelson Echeverría

It’s with a lot of pain that I announce you the death of Nelson Echeverría.

  I write this post in his memory and for his family for whom I feel my sincere condolences.

  Nelson was living with Huntington’s disease and was already in late stage.

  Lately other health problems have been added, in particular tuberculosis, and he has not held up.

  I met Nelson and his family here in Colombia and I can tell you they are wonderful people.

  Unfortunately, they live with very few means and it is very sad.
Nelson didn’t even have a bed to rest on.  He spent his days sitting on a wooden chair.

  Malnutrition, lack of hygiene linked to poverty, not being able to consult health professionals, isolated because they live in remote villages, these are the daily lives of many people here in latin america.

  So imagine with Huntington’s disease on top of that and it’s a real nightmare for those families.

  The octopus Huntington won again, it took Nelson like it took away my father in the past and thousands of other people.

  We are facing an incurable, rare and devastating disease, which destroys the daily life of many families, generations after generations (hereditary and genetic disease).

  We need help and in honor of Nelson and the entire Huntington community, I invite you to share, talk and encourage people to help us.

  The Factor-H association is doing a remarkable job here but lack of means, we must show solidarity and help these people.

  I think that’s the only way to deal with Huntington’s disease, solidarity.
We have no treatment, no cure and are helpless in the face of this terrible disease.

  The only thing we have left is to support each other, no matter our differences, we are all Huntington.

  I send my sincere condolences to all his family and I will fight for you, that I promise you.

  You will always be with us Nelson, rest in peace my friend, I love you ❤️

If you want to help us, please follow the link below and contact Factor-H organization.

Thank you so much for your help.

@factorh_org

LAST UPDATE : Nelson sorted out negative from Tuberculosis but had COVID-19

Marielos Zamora Mena

I had the pleasure of meeting Marielos Zamora Mena and her family in Costa Rica.

Marielos has written a book on Huntington’s disease :

https://www.amazon.com/Suceso-Inesperado-Impacto-Enfermedad-Huntington-ebook/dp/B09S5H435K

and I wanted to share her story with you.

She discovered Huntington’s disease when her mother declared the first symptoms at the age of 45. It was a real shock in the family, they did not know about the disease and the family history.

Her mother’s behavior began to change over time, she became very irritable, nervous, angry and intolerant and this caused her a lot of anxiety.

It’s a big family, they are 8 brothers and sisters and therefore all at risk of the disease. Marielos for her part did the genetic test after she discovered her mother’s disease and her result was negative. A relief for her although her mother was very affected and her brothers and sisters at risk.

These siblings, upon learning the nature of the disease, and its hereditary and incurable condition, went into a state of denial, they said – I don’t have it – I can’t have it.

One of his brothers declared the disease, he also suffered from alcoholism and he could not bear this terrible life and ended his life.

For the others, they have never had the genetic test and are in denial. After lot of years fighting, her mother finally passed away.

Marielos’ experience with Huntington’s disease is very sad and it really touched me. I advise you to buy her book and read her story.

It was a pleasure to meet her family during my visit to San José and I will continue to distribute her book around Latin America.

Fundación familia Huntington Costa Rica

The huntington foundation in Costa Rica is new and was created only two years ago. There are currently 40 families with the disease in Costa Rica. The association specializes in helping families directly and informing them about the disease. It’s difficult for them because they need more support, advices, time and the pandemic has made things even more complicated.

In Costa Rica, few doctors are aware of the disease and it is difficult for patients to be properly oriented. Also to do the genetic test, it is a long and difficult procedure which costs an additional $100 per patient, making it complicated to people at risk from getting tested. It is clear that the foundation is new and needs advices and help in order to progress.

The Cost Rica Fundation, provides support, educates families about the disease and shares experiences. They are very close to the families and the idea isn’t to just share informations or advices but creating a real relationship between them. They still have no information yet on HD research and need to exchange with other structures to share informations, advices and experiences.

https://www.facebook.com/fundacionfamiliahuntingtoncostarica/

Juan Carlos Ángulo : Juancarlosangulo2@gmail.com

Lilibeth’s family

I introduce you Lilibeth’s family (on the right in the photo) which I had the honor to meet in San José, Costa Rica.

Lilibeth has a very rare disease that I had never heard of.
Acanthocytosis Chorea is a neurodegenerative, hereditary genetic disease that has similarities with Huntington’s.It is estimated that there are a thousand people with this pathology worldwide. The symptoms are very intense, choreic movements, dystonia, swallowing disorders, difficulty in walking.

Epilepsy occurs in half of individuals and may be the first manifestation. Most cases begin around age 35 but can occur between ages 10 and 70.

Lilibeth unfortunately declared this sad illness 7 years ago. She is still able to communicate and understand although she has a lot of difficulty.

She is a very brave and strong woman, she fights this terrible disease every day, sitting on a sofa, constantly gesticulating, her body is uncontrollable.

For her family, it was a huge shock. They had difficulty identifying this disease because it is very rare and there were no known cases in the family. Doctors took years to diagnose acanthocytosis chorea.

Besides that, Lilibeth doesn’t really have any treatment and she doesn’t have any follow-up adapted to her illness. Indeed, most of the health professionals she has met do not really know what to do.

Fortunately, Lili is a very strong woman, and she is well surrounded with her family who takes care of her.

It was very touching to meet this family and I have a lot of respect and admiration for these people. We share common experiences and we understand each other.

Facing these rare diseases, we tend to feel completely alone, isolated and helpless. And it’s amazing to meet people who understand us.

Thanks to you Lilibeth for inspiring me and thanks to the whole family for their welcome, you are wonderful people. You are now in my heart and thoughts forever, take care

Doña Ruth, Mauricio and their daughter María Guadalupe

Today I’m introducing to you a new family from San José, Costa Rica. Doña, Mauricio and her daughter María Guadalupe, a beautiful family who inspires me so much.

Mauricio, 56 years, originally from Nicaragua, has huntington disease, a genetic, hereditary and neurodegenerative disorder.

It’s in 2018, that Mauricio was diagnosed positive from huntington and his family learned about it. In fact, he was ill long time before because the first symptoms appeared 7 years ago. But at that time, nobody understood what was going on.

He is from Nicaragua, they actually lost contact with his family and had no idea about medical history. But unfortunately the disease is here, destroying a new family, generation after generation again..

Mauricio is deeply affected, he can’t no more talk, read, write, barely walk and unable to do any daily activity.He has strong motor symptoms and uncontrollable movements permanently. Even at night, he can’t sleep because of those movements. Besides that he already got psychiatric symptoms and can behave abnormally.

Doña Ruth, his wife, is a very strong and courageous woman. She wakes up at 4 am every day to get to work because she’s working really far and has to get there by bus.She is accountant and has to work hard because since her husband is ill, the all family relies on her salary alone. Fortunately they found someone to take care of Mauricio while Doña is at work.

It’s very difficult for Doña because she’s alone to lead the family and she has to manage with her husband and daughter.She’s also dedicating her time to the Huntington Disease Association of Costa Rica.

The Cost Rica Fundation, provides support, educates families about the disease and shares experiences. They are very close to the families and it allows them to talk and listen over a coffee to everyone’s testimonies. They still have no information yet on HD research and need to exchange with other structures to share informations, advices and experiences. @fundacionfamiliahuntingtoncr

A warm thank you to these families who, beyond opening their doors, above all open their hearts to me, and that’s what touches me the most, thank you !

Juan Carlos Ángulo and his family

I introduce you the family of Juan Carlos, a wonderful person that I met here in Costa Rica.

I had the pleasure of sharing somes times with his family and even celebrating his grandmother’s birthday.

Juan Carlos is a nurse, he lived with José for years who is a doctor. They welcomed me very warmly here and I would like to thank them.

Juan Carlos’ mother, Blanca Nieves, 57 years old, has Huntington’s disease. She has been symptomatic for 7 years now and is unfortunately already in an advanced stage. She can no longer speak or walk, has severe swallowing problems and choreic movements. She is a carrier of 47 CAG and I was surprised at how quickly the disease developed in her. Blanca Nieves has brothers who are mostly also affected by the disease.

What touched me once again in this situation is how the patients are surrounded, helped and supported by all their families. It’s very touching and I have a lot of respect for caregivers because I understand the difficulties they encounter on a daily basis.

Juan Carlos dedicates his time to taking care of others, he works as a nurse and in his spare time takes care of his mother and is an active member of the huntington foundation of Costa Rica. He is a very admirable person who inspires me.

The huntington foundation in Costa Rica is new and was created only two years ago. There are currently 40 families with the disease in Costa Rica. The association specializes in helping families directly and informing them about the disease. It’s difficult for them because they need more support, advices, time and the pandemic has made things even more complicated.

In Costa Rica, few doctors are aware of the disease and it is difficult for patients to be properly oriented. Also to do the genetic test, it is a long and difficult procedure which costs an additional $100 per patient, making it complicated to people at risk from getting tested. It is clear that the foundation is new and needs advices and help in order to progress.

It is very interesting to meet the members of this foundation, patients and families, understand their needs and share our experiences.

Amérique centrale

Guatemala :

   Au Guatemala je suis passé par la Messila, Huehuetenango, San Pedro de la Laguna , Antigua et la capitale. Cette étape était un réel challenge physique car j’ai rencontré énormément de dénivelé positif. C’était très difficile.

   Les paysages du Guatemala sont magnifiques, de somptueuses montagnes et une nature impressionnante. J’ai eu la chance de visiter le lac Atitlán, un gigantesque lac entouré de volcans. Et j’ai aussi gravi le volcan Acatenango et Fuego, une expérience unique ! Le volcan Fuego est un volcan actif et on peut observer des éruptions. On compte en moyenne 15 éruptions par heure, un spectacle à couper le souffle.

   C’est un pays très culturel et on peut rencontrer encore de nombreuses communautés mayennes. D’ailleurs l’espagnol est bien souvent la seconde langue. Par exemple à San Pedro la laguna, on parle le Tz’utujil.

   Dans la capitale, Guatemala City, j’ai eu l’opportunité de collaborer avec de nombreux médias afin de donner de la visibilité à la maladie de Huntington. Malheureusement, je n’ai aucun contact dans ce pays en lien avec la maladie. On suppose qu’il y a des patients mais ils ne sont pas identifiés. Il n’y a aucunes associations et le corps médical ne connaît pas la maladie.

   J’ai profité de cette halte afin de faire réviser mon vélo après de nombreux kilomètres. Et à ma grande surprise j’ai trouvé un magasin avec une équipe formidable qui m’a offert une nouvelle chaîne, des freins et la révision complète du vélo. Quelle aventure humaine, ça fait chaud au coeur de rencontrer des gens aussi bienveillants.

Salvador/Honduras/Nicaragua :

Je n’ai pas trop visité ces trois pays de l’Amérique centrale car je voulais économiser mon budget pour l’Amérique du Sud. En effet, le voyage est encore long et je dois faire des choix.

Par ailleurs, je n’ai aucun contact en lien avec la maladie de Huntington ici. On suppose qu’il y a des malades mais non identifiés.

Au Salvador, j’ai quand même visité les villes de Santa Ana, San Salvador (la capitale) et San Miguel. J’ai d’ailleurs fait de belles rencontres à San Miguel. Le Salvador est réputé pour être dangereux et je dois avouer que je n’ai eu absolument aucun problème. Les locaux étaient très gentils et j’ai campé à de nombreuses reprises sans problèmes. Le plat typique du Salvador sont les pupusas. Une galette avec différents ingrédients à l’intérieur. Ce que j’ai particulièrement aimé dans ce pays c’est que c’est son authenticité, on est loin du tourisme de masse.

Venant du Salvador, je suis arrivé en Honduras par la côte ouest et j’ai donc traversé une partie du pays. Je me suis juste arrêté une journée à Choluteca afin de faire un test PCR avant de rejoindre le Nicaragua. Ce que je remarque dans ce pays, c’est la pauvreté qui m’a particulierement choqué.

   Mon aventure au Nicaragua commence dès la frontière. Je tombe sur des douaniers malpolis et très ennuyeux. En effet, j’ai passé presque 2 heures à la frontière à répondre à l’ensemble de leurs questions et remplir leurs papiers. Je pense que j’ai jamais eu autant de mal à passer une frontière, ils m’ont même demandé le numéro de plaque d’immatriculation du vélo. Mais avec de la patience, j’ai finalement  réussi à rentrer.

   J’ai beaucoup aimé le Nicaragua, les passages sont magnifiques, il y a beaucoup de volcans et des villes avec une architecture coloniale. Les gens sont également très généreux et bienveillants. Et concernant la nourriture je suis tombé amoureux du Gallo Pinto et du pollo asado au barbecue, je mangeais ça tous les jours. J’ai eu la chance de visiter la ville de León et Granada. Pour la petite anecdote, lors de ma dernière nuit au Nicaragua, j’ai campé près de la frontière du Costa Rica. La nuit tombée, des centaines d’araignées sont apparus, elles grimpaient de partout sur ma tente, j’étais vraiment pas rassuré. Je pense que j’ai du camper à côté d’un nid d’araignées car elles étaient vraiment par centaines. De plus, le lendemain matin quand j’ai voulu récupérer le vélo, il y a avait une cinquantaine d’araignées qui avaient tissées leurs toiles pendant la nuit et pondus des œufs. Une véritable horreur pour tout nettoyer sans me faire piquer.

Costa Rica

   Je suis content d’arriver au Costa Rica car ici il y a une fondation huntington, des familles/patients et docteurs à rencontrer. J’ai passé 3 semaines au Costa Rica et notamment dans la capitale de San José. Ce pays offre bien plus que la capitale mais je suis ici pour rencontrer des familles et travailler sur mon projet.

   Et des rencontres, j’en ai fait beaucoup ! J’ai logeais chez Juan Carlos, un infirmier dont sa maman est atteinte de la maladie de Huntington. Et j’ai même eu le privilège de rencontrer toute sa famille. Il m’a fait visiter de nombreux endroits également et notamment des volcans.

   Grâce à Juan Carlos, nous avons travaillés avec de nombreux médias afin de faire de la visibilité à la maladie de Huntington et mettre en avant la fondation du Costa Rica.

  

   Et puis j’ai eu la chance de rencontrer de nombreuses familles qui vivent avec des personnes affectées par la maladie de huntington et même une généticienne. C’est toujours très intéressant de rencontrer des familles car nous vivons des expériences similaires et ça permet de se sentir moins seul. Et ce sont des moments très touchants puisqu’on vit des choses douloureuses avec les malades.

Les ticos (habitants du Costa Rica) ont été très généreux avec moi et comme au Mexique, j’ai été accueilli les bras ouverts. Ça m’a beaucoup ému et j’ai tissé des liens profonds avec de nombreuses personnes. La famille huntington est grande et universelle, nous devons être soudé afin de pouvoir s’entraider.

Mexique

  

México City

J’ai passé un mois et demi dans la capitale de México city et c’était un magnifique séjour !

   Grâce à Nacho, directeur de l’association Factor-H, j’ai eu l’opportunité de rencontrer de nombreuses personnes qui travaillent sur la maladie de Huntington. D’ailleurs, j’ai eu l’opportunité de rencontrer Nacho et ses amis qui étaient dans la capitale pour quelques jours et nous avons pu échanger sur mon projet.

   Chercheurs, généticiens, neurologues, j’ai été accueilli par toute la communauté qui travaille sur la maladie de Huntington.

   Ainsi j’ai pu visiter l’institut national de neurologie du Mexique avec David Dávila, généticien et son équipe.

   J’ai eu la chance également de rencontrer deux équipes de chercheurs dans la capitale. L’une se concentre sur la thérapie génique et dirigé par le docteur Santiago Villafaña et l’autre sur des travaux spécifiques dirigées par Francis Perez et Claudia González.

   L’Association Huntington du Mexique m’a également accueilli les bras ouverts et j’ai fait la rencontre de Donají Toledo, qui est la directrice. Donají m’a fait visiter son association et partager son travail, c’était très intéressant. Nous avons aussi organisé la journée internationale de la maladie de huntington.

   Mon projet de connecter le réseau huntingtonien d’Amérique latine avec l’Europe et Factor-H fonctionne, pour l’instant, très bien.  Désormais l’Association Huntington du Mexique collabore avec Factor-H et l’Association Internationale Huntington. Les équipes de chercheurs de la capitale partagent également leurs projets avec les différentes associations.

   Concernant la communication du projet, deux articles sont parus, l’un dans « Somos Hermanos » et l’autre « Vertigo Politico ». Dany Goler, un entrepreneur et youtubeur américain m’a rejoins ici afin de m’interviewer. J’ai aussi eu la chance d’être diffusé sur trois radios mexicaines (Adr Networks, W Radio, El Heraldo). Enfin, j’ai fait une interview sur une chaîne nationale mexicaine, Milenio TV.

J’ai beaucoup aimé la capitale, c’est une ville très cosmopolite et dynamique. Loin des clichés que l’on peut s’imaginer, c’est une ville développée et très grande. Je connaissais déjà mais c’est un plaisir de revenir. J’ai passé de nombreuses heures dans les musées dont regorgent Cdmx.

J’ai même eu la chance de faire un saut en parachute ! Une expérience que je voulais faire depuis des années mais ayant la phobie du vide, je n’ai jamais eu le courage.

Et puis, j’ai trouvé un centre de méditation Vipassana dans la Vallée de Bravo , proche de la capitale. Une retraite de 10 jours dans le silence total. Une expérience très enrichissante et unique. Je trouve que c’est parfait avant de commencer le voyage à vélo !

Départ du voyage à vélo

C’est officiel mon voyage à vélo a commencé !

J’ai quitté la capitale de Mexico, Mexico City, ce dimanche.

C’est avec le coeur lourd que je quitte cette ville car j’ai rencontré des personnes incroyables qui sont désormais de véritables amies.

Pour l’occasion, ils m’ont accompagnés jusqu’à ma première destination, Puebla, à 140km de la capitale. J’ai eu le droit à un évènement spécialement organisé pour moi, que d’émotions !

C’est dingue comme certaines personnes peuvent vous toucher. Depuis que je suis ici, j’ai la chance de faire de magnifiques rencontres et j’espère sincèrement que l’on se reverra prochainement.

Merci à tous les amies, je suis très ému et vous allez me donner la force dans mon périple. 😘

Puebla

   J’ai beaucoup aimé la ville de Puebla où j’ai passé quelques jours.

     L’architecture est unique et la ville regorge de magnifiques églises.

     J’ai visité la bibliothèque, les musées et goûté la cuisine « Poblana ».

     Ici, on mange du pollo con mole, des cemitas, des chilis en nogada avec de l’agua de horchata ou du cafe de olla.

    C’est une ville vraiment sympa et j’ai eu la chance d’assister à un concert de musique avec des danses locales (China poblana etc..)

     J’ai aussi la chance de rencontrer Kantphy Viañez qui est à risque de la maladie de Huntington.

     Merci Puebla, c’était agréable de te rendre visite !

Puebla – Oaxaca – Mazunte – Tuxtla

Après mon séjour à Puebla, je me suis dirigé vers la ville de Oaxaca. Je suis passé par différents villages, Guadalupe Allende, Acatlán, Huajuapan de León, Tierra Blanca et enfin Oaxaca.

J’ai fait de belles rencontres et notamment un monsieur âgé qui m’a invité un matin à déjeuner. J’ai également eu la chance de faire un bivouac en face d’une chaîne de montagnes, le paysage était fabuleux. La difficulté principale de cette étape était le dénivelé positif, ça grimpe énormément.

La ville de Oaxaca est réputé et j’ai tout de suite compris pourquoi. Une architecture typique, très colorée et une gastronomie unique. J’en ai profité pour visiter le Mont Alban, un site archéologique Aztec et également la route du Mezcal, alcool traditionnel mexicain.

Après ma visite de Oaxaca, j’ai repris la route et cette fois en direction de la côte Pacifique afin de rejoindre Mazunte. Les plages sont réputées pour être authentique et moins touristique.

Mais avant de rejoindre la mer, j’ai dû encore grimper jusque San José del Pacifico. Un village en pleine montagne réputé pour les champignons hallucinogènes et les cérémonies « Temazcal ».

C’est un vrai challenge de rejoindre ce village car énormément de dénivelé mais ça vaut le coup, le paysage est à couper le souffle !

Après avoir tant grimpé, c’est maintenant venu le moment de redescendre jusqu’au niveau de la mer afin de rejoindre Puerto Ángel , Mazunte et Zipolite. 3000m de dénivelé négatif, c’était vraiment fun de descendre pendant des heures heureusement que j’ai des bons freins.

Les plages de la côte sont magnifiques et notamment celle de Mazunte. Zipolite est réputée pour sa plage nudiste et ses spots de surf. Le climat a complètement changé, je suis maintenant dans une zone tropicale, il fait très chaud et il y a beaucoup d’humidité.

Après la farniente sur la plage, il est temps de repartir, je me dirige vers la ville de Tuxtla dans le Chiapas, dernier état avant le Guatemala.

Cette partie du voyage fût une vraie aventure, j’ai beaucoup souffert. En effet en plus du dénivelé positif (je suis parti du niveau de la mer pour retourner en altitude), les températures ont atteints les 45 degré. C’était très difficile même la nuit j’avais encore très chaud et je pouvais à peine me reposer.

Histoire de rajouter un peu d’aventure, je suis passé par la zone la plus venteuse du Mexique, « La Ventosa ». Les locaux m’ont prévenus, c’est dangereux et même les voitures se retournent sous la force du vent. J’ai donc attendu sagement mon tour afin de partir dans les meilleurs conditions et rejoindre Tuxtla plus sereinement. À Tuxtla, je fais la rencontre de « Jannetha » et son papa dont l’épouse est décédé il y a quelques années de la maladie de huntington. Nous passons la journée ensemble et échangeons sur nos histoires communes.

Distance de Mexico city à Tuxtla : 1262km et 11 908m élévation positive.

Pour finir mon voyage au Mexique en beauté, je suis invité à fêter Noël et nouvel An avec la famille de Marian que j’ai rencontré à Mexico City. J’ai donc déposé mon vélo à Tuxtla et pris un bus pour les rejoindre.

Des gens formidables qui m’ont accueillis chaleureusement, ça m’a particulièrement touché. J’ai joué au jeu de la « Piñata » , découvert les traditions locales de Noël, bu du « Poñche »(un jus de fruits chaud), participer à la fête foraine, célébrer le jour des rois mages (Rosca de Reyes, équivalent de la galette des rois).

Après les fêtes, ils m’ont même invités à passer une semaine de vacances avec eux. Nous avons étaient sur les plages de Michoacán, un vrai paradis !

Ici c’est très authentique et local, tout ce que j’aime ! Et en plus partager ça avec des gens adorables, c’était une très belle expérience.

Nous avons même visité une plage où les tortues viennent pondre leurs œufs à la tombée de la nuit.
C’est un spectacle unique, des centaines de tortues et bébés tortues se retrouvent sur la plage. Il faut faire attention où on marche tellement elles sont nombreuses.
Le matin, au levé du soleil, j’ai même eu la chance de nager avec les tortues.

J’ai passé une superbe semaine avec des gens incroyables qui m’ont donnés la force nécessaire pour continuer mon voyage. Je ne pouvais pas mieux commencer l’année.

Un énorme merci à tous ! Cette semaine, je me prépare à quitter le Mexique pour rejoindre le Guatemala. Je suis triste de partir d’ici car j’ai créé des liens avec de nombreuses personnes.

J’espère que l’on aura la chance de se revoir et partager de nouvelles expériences ensemble. Merci à tous et prenez soin de vous !

Marian Jesabel Pérez

Je vous présente Marian, une fille incroyable que j’ai rencontré à Mexico City.

Nous nous sommes rencontrés grâce à mon projet « ExploreforHuntington ». En effet nous partageons des histoires communes et la sienne m’a particulièrement touchée.

Marian est diplômé d’un doctorat, elle est chercheuse sur la maladie de huntington ici au Mexique. J’ai d’ailleurs eu la chance de visiter le laboratoire où elle travaille et rencontrer son équipe.

C’est une fille très intelligente qui a même remporté différents prix, j’ai appris beaucoup à ses côtés.

https://www.elheraldodesaltillo.mx/2021/12/15/estudian-mecanismos-para-retrasar-sintomas-de-la-enfermedad-de-huntington/

https://www.researchgate.net/profile/Marian-Jesabel-Perez

https://jneuroinflammation.biomedcentral.com/articles/10.1186/s12974-020-01758-9

Ce qui est encore plus remarquable chez Marian, c’est qu’elle est aussi personnellement touchée par cette maladie. Elle hérite du gène de par sa mère qui est atteinte depuis 6 ans. Tout comme moi, elle vit dans l’angoisse de déclarer des symptômes et dédit sa vie à cette cause. C’est très admirable et elle m’a beaucoup inspiré.

La mère de Marian, Amanda, vit avec la maladie depuis quelques années. C’est surprenant car c’est la première fois que je rencontre un patient atteint de manière « légère ». En effet, mon expérience de la maladie de huntington est très négative car ma soeur est atteinte psychiatriquement et dans un état chaotique. Amanda est aussi malade mais paraît épanouie. Faut dire qu’elle est très bien entourée avec une famille incroyable. Son mari Hugo s’occupe très bien d’elle et ses enfants également. Marian a une sœur, dentiste qui a fait le test génétique récemment et elle est négative. Son frère quant à lui ne sait pas encore si il va réaliser le diagnostic.

Ce qui m’a particulièrement marqué également c’est le comportement d’Amanda, la maman de Marian. C’est une femme très gentille et calme, jamais elle ne se plaint de quoique ce soit et elle cherche toujours à faire plaisir. Une vraie leçon de vie ! Avant de me plaindre pour quoique ce soit ou à chaque coup de pédale difficile lors de mon voyage, j’aurai toujours une pensée pour Amanda. Merci Amanda, tu ne t’en rends pas compte mais tu m’inspires beaucoup.

J’ai eu la chance de partager Noël et nouvel an avec cette famille et c’était une magnifique expérience. Complètement immergé dans la culture mexicaine avec des gens bienveillants, ça m’a fait un bien fou !

Après les fêtes, ils m’ont même invités à passer une semaine de vacances avec eux sur les plages de Michoacán. Comment refuser ? J’accepte l’invitation avec plaisir et reporte mon aventure à vélo d’une semaine.

Dorénavant, j’ai une famille mexicaine et ils vont me manquer. Je tiens à remercier particulièrement Marian pour sa gentillesse, bienveillance et son aide. Et bien évidemment un énorme merci à toute sa famille pour m’avoir accueilli à bras ouverts. C’est avec le coeur lourd que je vais quitter le Mexique après tant de rencontres.

Kantphy Viañez

I met Kantphy Viañez who lives in Puebla,Mexico.

Kantphy is at risk of Huntington’s disease, his mother triggered the first symptoms at the age of 40.

She is very familiar with this disease because she helped her mom for almost 20 years.

She has siblings too even tho none of them did the genetic test because it is a too traumatic step and I understand.
Fortunately they have a close family, I think it helps a lot about this disease.

Kantphy’s dad took care of his wife for many years and she also has a 13-year-old girl.

It’s complicated here in Mexico because everything is concentrated in the capital, CDMX. Indeed there are no doctors, geneticists, institute of neurology or even association elsewhere than in the capital. As a result, the families with Huntington must go to the capital to get help. Given that the country is gigantic, it is very problematic for many families.

Thank you very much to Kantphy to share my life with me. We are all together with huntington.

Conocí a Kantphy Viañez quien vive en Puebla, México.

Kantphy está en riesgo de contraer la enfermedad de Huntington, su madre desencadenó los primeros síntomas a los 40 años.

Por lo tanto, ella está muy familiarizada con esta enfermedad porque ha ayudado a su madre durante casi 20 años con la enfermedad.

Ella también tiene hermanos.  Ninguno de ellos ha hecho la prueba genética porque es un paso demasiado traumático.

Afortunadamente tienen una familia cercana, creo que ayuda mucho con esta enfermedad.

El padre de Kantphy cuidó de su esposa durante muchos años y ella tiene una hija de 13 años.

Lo que es muy difícil aquí en México con la enfermedad de Huntington es que todo está concentrado en la capital, cdmx. De hecho, no hay médicos, genetistas, institutos de neurología o incluso asociaciones en otro lugar que no sea la capital. Así que la familias que viven con Huntington debe viajar a la capital en busca de ayuda. Dado que el país es enorme, esto es muy problemático para muchas familias.

Muchas gracias a Kantphy por compartir su vida conmigo. ¡Todos juntos enfrentamos esta enfermedad, una gran familia! Y tenemos que ayudarnos unos a otros.