THE achondroplasia It is a genetic condition that affects approximately 1 in 20,000 births worldwide, according to the National Center for the Advancement of Translational Sciences.
It is mainly characterized by short stature, because the bones of the extremities grow more slowly. However, those living with the condition know that its effects go beyond height and include complex medical complications.
Mariana del Carmen Ramírez Duartea 19 year old girl, vice president of Dalla testa al cielo Foundation ACtold Salud180 what it’s like to live with achondroplasia in Mexico, the health challenges he’s faced since childhood, and the social and infrastructural barriers he’s had to overcome.
Achondroplasia: more than one difference in height
Although achondroplasia is known as a form of dwarfismMariana prefers to call her a genetic condition.
“Sometimes confusion arises when the term ‘disease’ is used, even though, in a medical sense, it is considered a genetic disease,” he explains.
People with achondroplasia They have shorter arms and legs in proportion to the rest of the bodya relatively large chest and distinctive facial features.
Mariana points out that this disorder does not only manifest itself in height, but can also cause respiratory and orthopedic problems, among other medical complications.
A journey full of medical challenges
For Mariana, the challenges began at an early age. “Since I was a child I have had respiratory problems. I often got sick with flu and sore throat; everything caused me allergies. Climate or environmental changes have affected me a lot.
This is because people with achondroplasia tend to have narrower airways, making them more susceptible to infections and breathing problems.
Furthermore, Mariana mentions one of the most common health problems in people with achondroplasia: compression in the foramen magnum, which can compress the bone marrow.
This compression can occur at the base of the skull and, in severe cases, may require surgery to release the pressure and prevent serious damage.
“Fortunately I haven’t had this problem, but many friends with this condition have had to undergo this surgery,” commented Mariana.
What orthopedic barriers does achondroplasia involve?
In Mariana’s case, adolescence brought other physical challenges: his legs began to benda common orthopedic condition among people with achondroplasia.
“When I was 12 I had surgery to straighten my legs and prevent them from deforming further. They put staples in me that will have to be removed at the end of my growth phase,” he said.
This surgery allowed him to walk pain-free throughout his adolescence, although he now faces the challenge of undergoing a new operation to remove the staples.
“If they stay there, the bone can wrap around them, which could complicate surgery or even prevent you from walking in the future,” he explains.
In other cases, this orthopedic condition may be so severe that a wheelchair is necessary.
Access to qualified doctors: a challenge in Mexico
The lack of specialists in
They had to look for specialists in other cities to receive adequate treatment.
“Due to my knee problem, I had to go to Toluca. Here in Morelia there was no specialist on this topic,” he explained. However, thanks to the network of doctors created by the pharmaceutical company BioMarin, today in the Mexican Republic there are around 30 qualified doctors who can treat the different medical aspects of achondroplasia.
“It’s common for doctors to not know how to handle our specific needs, and many times our parents have to seek help on their own. Not everyone has the financial resources or time to travel to another state and find specialists,” he comments.
The importance of emotional support and community
Mariana has found a fundamental pillar in her bass community. From an early age, her parents introduced her to other people with the same condition as her, which helped her strengthen her self-esteem and face discrimination with confidence.
“My parents always taught me that even though I’m short, I’m a person like everyone else,” he says.
Despite the acceptance and respect she has received in her community, Mariana admits she still faces discrimination on the streets.
“My mom is the one who gets angry when people point at me or laugh, but I prefer to ignore them. There comes a point when stress affects you psychologically and you prefer not to give it importance,” he says calmly.
Throughout her life, Mariana has had a positive educational experience. His parents took the initiative to educate his peers about his condition since elementary school, which helped eliminate doubts and curiosity in an atmosphere of respect.
“I have never experienced bullying at school, only doubts from my classmates about my condition. At university it is no longer necessary to explain anything; my classmates accept me as I am,” he says, smiling. Mariana is currently studying educational psychology and hopes to help other people deal with the social barriers that she herself has experienced.
When asked what advice she would give to someone with achondroplasia or some other disability, Mariana responded firmly: “Whatever barrier you have in front of you, you have to break down and continue with your life. If you have a dream, make it come true.”
Mariana also emphasizes the importance of asking for help when needed, and remembers that her community of short people is very supportive. In his experience, sharing experiences and advice with others in the same situation has given him the strength and confidence to face the challenges of everyday life.
Mariana’s case is a reminder of the daily challenges faced by people with achondroplasia in Mexico and around the world. Although there are barriers, Mariana is a sign of resilience and hope.
In his words: “We, people with achondroplasia, have a characteristic that defines us: whatever barrier we have, we will find a way to break it down, because we have to move forward.”
How can society better support individuals with achondroplasia to reduce stigma and discrimination?
Interview Between Time.news Editor and Expert on Achondroplasia
Editor: Welcome to Time.news! Today, we have a fascinating discussion lined up about achondroplasia, a genetic condition affecting many individuals worldwide. Joining us is Dr. Elena Torres, a geneticist specializing in population genetics and disabilities. Thank you for being here, Dr. Torres!
Dr. Torres: Thank you for having me! I’m excited to share insights on achondroplasia.
Editor: To start off, achondroplasia affects approximately 1 in 20,000 births. Can you tell us a bit more about this condition and how it manifests?
Dr. Torres: Absolutely! Achondroplasia is primarily recognized as a form of dwarfism due to short stature, but it goes beyond just height. Individuals with this condition often experience disproportionately shorter limbs, a larger head, and distinct facial features. Additionally, they may face serious health complications, including respiratory and orthopedic challenges.
Editor: It’s important to recognize the broader implications of this condition. I had the opportunity to read about Mariana del Carmen Ramírez Duarte, a 19-year-old who is living with achondroplasia in Mexico. She emphasizes it as a genetic condition rather than a disease. Why do you think that distinction matters?
Dr. Torres: That’s a crucial point. The terminology surrounding achondroplasia can significantly affect public perception and the lived experiences of individuals with the condition. Labeling it as a “genetic condition” rather than a “disease” can promote understanding and empathy, reducing the stigma associated with physical differences. It frames achondroplasia within the natural spectrum of human diversity.
Editor: Mariana mentioned her struggles with respiratory issues and ortho-related surgeries, which are common in individuals with achondroplasia. Could you elaborate on these health challenges?
Dr. Torres: Certainly! People with achondroplasia often have narrower airways, making them more susceptible to respiratory infections. This is compounded by potential spinal problems, such as compression at the foramen magnum, which can lead to serious neurological issues if left untreated. Orthopedic issues like bowed legs or skeletal deformities are also prevalent, requiring surgeries at pivotal growth stages—issues that Mariana herself faced.
Editor: It sounds like access to healthcare is a significant issue, especially in countries with fewer resources. Mariana has had to travel to find specialists. What does this say about the healthcare infrastructure in places like Mexico?
Dr. Torres: Mariana’s experience reflects a systemic issue. Despite advancements, there are still many regions lacking specialized healthcare providers familiar with the needs of individuals with achondroplasia. In Mexico, there are only about 30 qualified specialists, which is alarming, considering the population size. It underscores the need for better training and resources for healthcare providers to effectively care for this community.
Editor: Alongside these medical challenges, Mariana has also highlighted the importance of emotional support from her community. How critical is that support in managing this condition?
Dr. Torres: Emotional support is paramount. Communities and peer networks can provide individuals with the confidence and resources to navigate both health and social challenges. Being part of a community helps individuals like Mariana foster resilience against stigma and discrimination they might face. Family support is equally vital, as it helps in building self-esteem and promoting acceptance of their identity.
Editor: Despite facing discrimination, Mariana has learned to cope effectively. She mentioned how her mother reacts to onlookers. How should society move forward in addressing such discrimination?
Dr. Torres: Public education is key. Raising awareness about genetic conditions and promoting inclusivity can help break down misconceptions and stereotypes. People should be encouraged to embrace differences and recognize individuals as complete persons, beyond just their physical characteristics. Positive representation in media and community interactions can foster acceptance and reduce stigma.
Editor: Thank you, Dr. Torres, for sharing your insights on achondroplasia and the challenges faced by individuals like Mariana. Your expertise sheds light on the importance of better healthcare access and social support systems.
Dr. Torres: Thank you for having me! It’s crucial to amplify voices like Mariana’s so society can work towards greater understanding and inclusion.
Editor: And thank you to our readers for engaging with this important topic. We hope this discussion helps in promoting awareness and empathy towards those living with achondroplasia!
