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3 Rare Disease You Probably Didn’t Know About

Christabel EgbeamabyChristabel Egbeama
March 30, 2024
in News
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3 Rare Disease You Probably Didn’t Know About
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When I was younger, anytime I felt sick or too exhausted to move, I’d curl up in my favorite chair and watch my favorite movie. I sometimes wonder if these actors and actresses feel sick. Sometimes I’d see them arrive for various award presentations and wonder how they were always so healthy, or if there was ever a moment when they were unwell but still came up and covered up their illness so well.

Now that I’m much older, I’ve learned about a bunch of people that have had to deal with not just any kind of sickness like the usual typhoid, malaria or fever but rather, rare diseases like lupus, alopecia, diabetes etc. This just gave me a knock back to reality that fame and fortune don’t provide immunity from any health struggles, but can help you manage it better. In this article, we’re going to be looking at three rare diseases.

Table of Contents

Toggle
  • What Are Rare Diseases?
  • Examples of Rare Diseases
  • Cystic Fibrosis
  • Progeria (Hutchinson-Gilford Progeria Syndrome)
  • Guillain-Barré Syndrome (GBS)
  • Challenges of Rare Diseases
  • Conclusion

What Are Rare Diseases?

Rare diseases are medical problems that affect a small number of persons. For example, a sickness that affects fewer than one in every 2,000 persons is considered rare. These disorders can be difficult to identify since doctors may know little about them.

Examples of Rare Diseases

Cystic Fibrosis

Cystic Fibrosis is a genetic disorder caused by mutations in the CFTR gene, which disrupt the production of a CFTR protein that is essential for regulating the balance of salt and water on the surface of cells. One of its symptoms is the production of thick, sticky mucus throughout the body, particularly in the lungs and digestive tract. This makes it difficult to breathe and digest food normally. People with Cystic Fibrosis are prone to lung infections and struggle to grow properly. It is a noteworthy condition that impacts their life expectancy and daily activities.

Progeria (Hutchinson-Gilford Progeria Syndrome)

Progeria is an uncommon genetic condition caused by a mutation in the LMNA gene, which produces an abnormal protein termed progerin. Basically, progeria causes children appearance to age rapidly. Children with Progeria have skin and hair problems, stiff joints, and heart difficulties, making them appear much older than their age.

Unfortunately, it shortens their life significantly. They frequently die in their teens as a result of heart problems. It’s a difficult condition that influences how people appear and how long they survive. Examples of people that have suffered from progeria include: Sam Berns, Michiel & Amber, Devin, Megan, Sammy, Adalia Rose etc.

Guillain-Barré Syndrome (GBS)

GBS happens when the body’s defensive mechanism unintentionally targets its own nerves, frequently following a medical crisis. Though the exact cause of this is unknown, it seems as though the body becomes disoriented and begins to injure its own nerves. Usually, it begins with tingling or weakness in the legs and progresses to the arms and upper torso. This weakness may even make it difficult to move or breathe normally, and it can worsen quickly.

Additionally, some patients have pain or struggle with their balance. GBS has a significant impact on day-to-day functioning because it can cause paralysis or weak muscles. However, with time and proper care, many recover and resume their normal lives, though some may have long-term issues like difficulty walking.

Challenges of Rare Diseases

Since rare diseases are uncommon, a lot of doctors might not be aware of them. This implies that individuals with uncommon diseases may experience delays in receiving an accurate diagnosis. Moreover, the fact that these rare diseases are uncommon means that pharmaceutical companies don’t always produce drugs for them. If there are therapies available, they might be extremely expensive and difficult for families to afford.

Also managing an uncommon illness can be extremely emotionally taxing. It’s possible for people with these illnesses and their families to feel depressed, anxious, or afraid. In addition, people with these rare conditions may find it difficult to connect with others who share their experiences, which can exacerbate feelings of loneliness and isolation.

Conclusion

In conclusion, dealing with uncommon diseases is very difficult because of the challenges in diagnosing them, the high cost of therapy, and the emotional toll it takes on patients and their families. It’s important to offer people going through these challenges our sincere support and understanding.

Tags: 3 Rare Disease You Probably Didn't Know Aboutfederal characterhealth
Christabel Egbeama

Christabel Egbeama

Christabel Egbeama is a health writer and aspiring consultant engineer who recently completed her bachelor's degree in civil engineering. Her passion for safety in the construction industry led her to delve into public health writing. Having undergone training in health, safety, and environment, Christabel has established a foundation rich in comprehending the broader spectrum of health and its benefits for individuals across various ages and professions. She now produces compelling holistic health articles aimed at guiding individuals towards informed decisions for a healthier tomorrow, encouraging lifestyle modifications.

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