The Boy With No Skin | Our Life

Summary

This documentary follows the lives of individuals with epidermolysis bullosa (EB), a genetic skin disorder. It highlights the struggles and resilience of Jonathan, who faces life-threatening challenges, and Charlie, who undergoes a bone marrow transplant that dramatically improves his condition. The film also explores groundbreaking treatments and the potential of gene editing to offer hope for a cure. The story is a testament to the strength of the human spirit and the power of medical advancements.

Takeaways

• 🌟 Jonathan Johnfriedo, at seventeen, lives with epidermolysis bullosa (EB), a genetic condition that causes the skin to be extremely fragile and prone to blistering.
• 🤕 EB affects not only the skin but also internal organs, causing lifelong pain and a significantly reduced life expectancy.
• 👶 Charlie Nuth, at eleven, was born with the most severe type of EB and was adopted after being abandoned at birth due to his condition.
• 🩺 A groundbreaking treatment involving a bone marrow transplant has shown remarkable results for Charlie, improving his skin's strength and quality of life.
• 💉 Despite the success of Charlie's treatment, Jonathan has been hesitant about medical interventions due to a traumatic surgical experience.
• 🐬 Inspired by Winter the Dolphin's story of survival, Jonathan found the strength to persevere through his own challenges with EB.
• 💼 The financial burden of managing EB is immense, with the cost of bandages and medical supplies reaching thousands of dollars per month.
• 🎓 Jonathan is determined to graduate high school and dreams of working with animals, showcasing his resilience and desire for a somewhat normal life.
• 🔬 Dr. Jacob Tolo is pioneering treatments for EB, including the possibility of a cure through gene editing, which corrects the malfunctioning type 7 collagen.
• 🧬 Gene editing holds the promise of a cure for EB by replacing the faulty gene with a healthy one, offering hope for a future without the disease.
• 💪 The determination and positivity of individuals with EB, like Charlie and Jonathan, demonstrate the power of the human spirit in the face of adversity.

Q & A

What is epidermolysis bullosa (EB)?

Epidermolysis bullosa (EB) is a genetic condition characterized by extremely fragile skin that is prone to blistering and tearing from minor friction or trauma. It affects every aspect of a person's life, causing severe pain and complications such as infections and skin cancers.

What was the initial diagnosis experience for Jonathan's family when he was born?

The initial diagnosis experience for Jonathan's family was hectic and devastating. Jonathan was born with missing skin in places, and after tests, doctors suspected EB. The family was told about the painful life Jonathan would have, including difficulties eating and walking, and they even had a priest give him his last rites due to the severity of the condition.

How did Jonathan's mother feel when she first held him?

When Jonathan's mother first held him, she felt a wave of hope despite the devastating news. Jonathan looked at her and smiled, which made her feel like everything was going to be okay.

What is the significance of the bone marrow transplant for Charlie?

The bone marrow transplant was significant for Charlie because it helped heal his body from within, improving his skin's condition dramatically. It transformed his life, allowing him to engage in activities he previously couldn't, such as swimming and not being covered in dressings.

What was the impact of the bone marrow transplant on Charlie's quality of life?

The bone marrow transplant had a profound impact on Charlie's quality of life. It allowed his skin to heal, reducing the pain and discomfort he experienced. He was able to engage in normal activities like swimming and no longer had to be covered in dressings constantly.

What is the current life expectancy for individuals with severe EB?

The life expectancy for individuals with severe EB is often shortened, with most people dying by the time they reach 30 years old without treatment.

What is the financial burden of managing EB for Jonathan's family?

The financial burden of managing EB for Jonathan's family is significant, with an estimated cost of three to five thousand dollars a month just for dressings, not including other medical expenses.

What was the turning point for John in considering a bone marrow transplant?

The turning point for John in considering a bone marrow transplant was meeting Dr. Tolar and seeing the dramatic improvements in Charlie's skin and quality of life after the procedure.

What is the role of Dr. Jacob Tolo in the treatment of EB?

Dr. Jacob Tolo is a pioneering surgeon who has been conducting bone marrow transplants for EB patients. He is also involved in research and clinical trials for gene editing as a potential cure for EB.

What is the potential of gene editing in treating EB?

Gene editing holds the potential to cure EB by correcting the genetic mutation that causes the malfunction of type 7 collagen. This could provide a long-term solution for patients, drastically reducing the severity of the disorder or even eliminating it.

What was the emotional impact of meeting Winter the dolphin on John?

Meeting Winter the dolphin was a dream come true for John and had a profound emotional impact. Winter's story of resilience and survival inspired John during a difficult period in his life, and meeting her in person was an unforgettable experience.