Rare diseases, or orphan diseases, affect a small portion of the population. While individually rare, thousands of such diseases affect millions of people worldwide. In India, awareness about these conditions is limited, and patients often face significant challenges in diagnosis, treatment, and support. This blog aims to highlight five rare diseases many may not have heard of and explore how crowdfunding can be a lifeline for those affected.

Crowdfunding has become a powerful medium for raising funds for various causes, including medical treatments. For patients with rare diseases, crowdfunding can provide crucial financial support, helping cover the costs of expensive treatments, travel, and other necessities. It also plays an important role in creating awareness and building a community of support.

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Top 5 Rare Diseases You Haven’t Heard Of

Crowdfunding For Rare Disease

 1. Fibrodysplasia Ossificans Progressiva (FOP)

Fibrodysplasia Ossificans Progressiva (FOP) is a rare and challenging condition that affects individuals worldwide, including India. It is a genetic disorder that causes soft tissues, like muscles and ligaments, to transform abnormally into bone, creating a second skeleton that imprisons the body in a frozen state. This process is called heterotopic ossification.

In India, awareness and understanding of FOP are growing, thanks to the efforts of organizations like the International Fibrodysplasia Ossificans Progressiva Association (IFOPA) & FOP India. These groups provide support and information to patients & their families, guiding them through the complexities of managing a rare illness.

The condition is extremely rare, affecting approximately 1 in 2 million people globally. In India, with its large population, the number of FOP patients is relatively small, making it a challenge to find and connect with others facing the same issues. However, the establishment of FOP India has been a significant step forward, offering a platform for patients to unite, share experiences, and access resources.

FOP typically begins in childhood, with patients often first noticing lumps or swellings that are sometimes mistaken for tumors. These growths are the early stages of the disease, where bone forms outside the normal skeleton. Over time, this can severely restrict movement and lead to a loss of mobility.

Presently, there is no cure for FOP, & treatment concentrates on handling symptoms & preventing flare-ups that can accelerate the condition. Surgery to extract the extra bone is not a viable choice, as it can lead to more aggressive bone growth.

 2. Progeria

Progeria, also known as Hutchinson-Gilford Progeria Syndrome (HGPS), is a rare & severe genetic condition that causes children to age rapidly. In India, medical experts estimate that there may be more than 60 children suffering from this condition, with many cases likely going unreported.

The disease is caused by a mutation in the LMNA gene, which leads to the growth of an abnormal protein called progerin. This protein accelerates the aging process in cells, leading to the characteristic symptoms of Progeria. Children with Progeria are born looking healthy, but within their first year, they start showing signs of aging, such as hair loss, wrinkled skin, and growth delays. Despite these challenges, their intelligence remains unaffected, and they often display remarkable courage and joy in life.

Progeria has a profound impact on the health of affected children, often leading to heart disease and stroke at a young age. The average lifespan for a child with Progeria is around 13 to 20 years. However, there is hope in the form of treatments like lonafarnib, a drug that has shown promise in strengthening the hearts of children with Progeria and extending their lives.

 3. Tyrosinemia Type 1

Tyrosinemia Type 1, a rare genetic condition, impacts the body’s ability to metabolize tyrosine, an amino acid present in various food types. When tyrosine isn’t properly broken down, it can lead to severe health problems, including liver and kidney issues.

Tyrosinemia Type 1 is rare in India, with approximately 65 reported cases. This low number might be due to a lack of awareness, diagnostic facilities, and underreporting. The condition is autosomal recessive, which requires a child to receive the defective gene from both parents to be impacted.

Children with Tyrosinemia Type 1 usually show symptoms early in life, which can include poor weight gain, diarrhoea, vomiting, jaundice, and a cabbage-like odour. As the illness progresses, it can cause more serious health issues like liver failure, which is why early diagnosis and treatment are crucial.

Treatment generally involves a special diet low in tyrosine and phenylalanine (another amino acid) and medication to prevent the harmful buildup of substances caused by the breakdown of tyrosine. In some cases, a liver transplant may be necessary.

The cost of treatment for TT1 in India can be substantial. The primary medication used is Nitisinone, an orphan drug that can be quite expensive. A recent report indicated that the cost of Nitisinone could range from ₹2.2 to ₹6.5 crore per year, depending on the child’s body weight. This high cost can be a significant burden for families and the healthcare system.

 4. Cystic Fibrosis

It is a rare genetic disorder that impacts the lungs and digestive system. It is more common in Caucasians but exists in India, although the exact number of people affected is unknown. There are estimated to be up to 39,200 patients with Cystic Fibrosis(CF) in India.

The mutation in a gene called CFTR is responsible for Cystic Fibrosis. This mutation produces thick, sticky mucus that can clog the airways and trap bacteria, leading to repeated lung infections and lung damage. It also impacts the pancreas by inhibiting the production of digestive enzymes necessary for the body to absorb food and important nutrients.

Children with CF in India are often diagnosed late, which can lead to more severe health problems. They may experience malnutrition, and vitamin deficiencies, and are more likely to be colonized with bacteria like Pseudomonas, which can cause serious infections.

Treatment for CF in India faces challenges due to the lack of trained healthcare professionals, financial support, and the high cost of medication. However, efforts are being made to improve CF awareness, diagnosis, and management with locally available resources.

 5. Wilson’s Disease

It is a rare genetic illness that affects about 3 to 20 people per 100,000 worldwide. In India, while exact prevalence rates are not known, it is recognized as a significant cause of liver-related diseases among children.

The disease is characterized by the body’s inability to eliminate excess copper, leading to its accumulation in the liver, brain, kidneys, and eyes. This can result in severe symptoms, including liver disease, neurological issues, and psychiatric problems. The condition is autosomal recessive, meaning a person must inherit 2 defective genes, one from each parent, to develop the disease.

Early symptoms might be subtle, including fatigue, appetite loss, and abdominal pain. As the disease progresses, more severe signs such as jaundice, tremors, and difficulty walking can occur. A distinctive feature of Wilson’s Disease is the Kayser-Fleischer ring, a copper deposit visible in the cornea of the eye, which can be detected during an eye examination.

Diagnosis often involves blood tests to measure copper levels, liver function tests, and an eye exam to check for Kayser-Fleischer rings. Early diagnosis is crucial, as treatment can prevent long-term damage and improve quality of life. Treatment typically includes medications that remove excess copper from the body, known as chelators, and zinc therapy to reduce copper absorption. Dietary changes to avoid copper-rich foods are also recommended.

In India, challenges remain in timely diagnosis and access to treatment. Studies have shown that hepatic presentations of the disease have higher mortality, while neurological presentations can lead to persistent disabilities. Awareness and education about Wilson’s Disease are essential for early recognition and management.

Ongoing treatment and monitoring are vital for those diagnosed with Wilson’s Disease. In serious cases, liver transplantation may be necessary. Individuals with Wilson’s Disease can lead full, active lives with proper medical care.

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The Role Of Crowdfunding In Supporting Rare Disease Patients

Crowdfunding has become an increasingly popular medium for raising funds for various personal and social causes, including medical expenses. Crowdfunding can be a lifeline for patients with rare diseases, providing much-needed financial support for treatments, travel, and other related costs. In India, where healthcare costs can be a significant burden, crowdfunding offers a way for families to access necessary care that might otherwise be unaffordable.

How Crowdfunding Platforms Work

Crowdfunding involves creating an online campaign where individuals can contribute money to support a specific cause. It’s like asking friends, family, and even strangers to contribute small amounts to help reach a bigger financial goal. Several crowdfunding platforms in India, such as ImpactGuru, make it easy to set up and share these campaigns.

Why Is Crowdfunding Important For Rare Disease Patients?

1. High Medical Costs: Rare diseases often require specialized treatments, medications, and care that can be very expensive. Many families cannot afford these costs on their own, and insurance may not cover everything. Crowdfunding helps by raising the necessary funds to pay for these treatments.

2. Limited Access to Treatments: In some cases, the treatments needed are only available abroad or in specialized centers, adding travel and accommodation expenses to the cost. Crowdfunding can help cover these additional expenses, allowing patients to access the best possible care.

3. Raising Awareness: Rare diseases are often not well-known, making it hard to get support. Crowdfunding campaigns help raise awareness about these conditions, educate the public, and increase the chances of receiving donations.

4. Building a Supportive Community: Crowdfunding is not just about raising money; it’s also about creating a network of supporters who can offer emotional support and encouragement. This sense of community can be invaluable for patients and their families as they navigate their challenges.

5. Funding for Research and Development: In some cases, crowdfunding can also support research into rare diseases, potentially leading to new treatments and cures.

Steps To Start A Crowdfunding Campaign For Rare Disease Treatment

Starting a crowdfunding campaign involves several key steps:

1. Identifying the Need and Setting Goals: Clearly define the financial need and set a specific fundraising goal. This includes outlining the costs of treatment, travel, and other necessities.

2. Choosing the Right Platform: Select a crowdfunding platform that suits the campaign’s needs and has a good track record supporting medical causes. Choosing the right crowdfunding platform and setting achievable goals is critical to the campaign’s success. It’s important to research the different platforms available and select one that aligns with the campaign’s needs. 

3. Creating a Compelling Campaign Story: Share the patient’s story, including details about the rare disease, the challenges faced, and the importance of the treatment. Use photos, videos, and personal testimonials to connect with potential donors.

4. Promoting the Campaign Through Social Media: Leverage social media platforms, local communities, and personal networks to spread the word about the campaign. Regularly update supporters on the campaign’s progress and any milestones achieved.

5. Maintaining Transparency and Updating Supporters: Transparency is crucial in crowdfunding. Keep supporters informed about how the funds are used and share updates on the patient’s condition and treatment progress.

Conclusion

Raising awareness about rare diseases is necessary for improving diagnosis, treatment, & support for those affected. While the challenges faced by patients with rare diseases can be significant, crowdfunding offers a viable solution for accessing necessary care and support. By sharing stories, engaging the community, and leveraging the power of social media, crowdfunding can make a real difference in the lives of those battling rare diseases.

For families and individuals dealing with rare diseases, crowdfunding not only provides financial support but also fosters a sense of community and solidarity. It’s a powerful reminder that even in adversity, people are always willing to lend a helping hand. As we continue to learn more about rare diseases and their challenges, it’s important to explore all available resources, including crowdfunding, to ensure everyone can access the care they need.