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Butterfly Children: The Horrors of Dystrophic Epidermolysis Bullosa (DEB)

Updated on February 21, 2013

A Small Who Suffers from DEB

This is a less severe case of DEB, but notice how his toes are fused together. Mobility is rare amongst sufferers.
This is a less severe case of DEB, but notice how his toes are fused together. Mobility is rare amongst sufferers.

Imagine if your skin could be damaged by the slightest touch and you had to spend your entire life covered in bandages completely dependent on the assistance of other people. So is the life of those who suffer from Epidermolysis Bullosa Dystrophica (DEB), a genetic disorder whose most prominent symptom is incredibly fragile skin that blisters constantly. Young sufferers are often referred to as "Butterfly children" because their skin is considered to be delicate like the wings of a butterfly or moth. The most severe of the three types of DEB (see below) occurs in less than one out of every million births in the United States.

Dystrophic Epidermolysis Bullosa (DEB) is a very severe subtype of Epidermolysis Bullosa (EB). The associated ailments can vary. In the most severe of the three major types of DEB, Autosomal Recessive Dystrophic Epidermolysis Bullosa (ARDEB), blistering plagues the entire body, especially areas victim to even the mildest physical trauma. The constant blistering and healing covers the body with prominent scars.

Complications of this genetic disease can lead to blindness and severe disfigurement in the form of fused fingers and toes from the trauma caused simply by having so many moveable joints in one part of the body. The skin of the hands and feet has to heal itself so many times throughout the course of a DEB patient’s life that they are eventually healed together and are no longer functional

People affected with this condition rarely live past thirty years of age as the constant damage to their skin often leads to a particularly aggressive form of skin cancer known as Squamous Cell Carcinoma (SCC). People afflicted with this severe form of DEB also suffer generally poor health and stunted development as their scarred mouths and esophagi struggle to properly chew and swallow food. They also typically have immense difficulty sleeping as people so severely afflicted are virtually immobile lest they move and tear their incredibly fragile skin which is highly susceptible to infection and may or may not heal at all once damaged. Sufferers are also subject to chronic fatigue due to iron-deficiency anemia, the reason for which is still unknown.

Mutations in the COL7A1 gene cause all three forms of DEB

Gene expression pattern of the COL7A1 gene
Gene expression pattern of the COL7A1 gene | Source

Jonny Kennedy (1966 to 2003) is an example of the horrors of DEB. He was the subject of The Boy Whose Skin Fell Off, a British documentary of the final months of his life during which he makes the most of his time left to live and puts his affairs in order after being diagnosed with terminal skin cancer caused by his severe affliction. We see him suffer immensely throughout the documentary which is available for viewing on YouTube. In a particularly difficult scene, we see him cry in pain as his mother performs the weekly removal of old bandages to apply new ones to his raw and bleeding back. Kennedy attests to the severe discomfort he has to suffer every day and claims that sleep and mental escapism are his only means of dealing with it.

Another demonstration of the severity of DEB, Kennedy was born with no skin on his left leg. It is disturbingly common for those afflicted for a significant amount of skin to be torn off due to the typical rigours of childbirth. At the time of his birth, there was no prenatal screening for DEB. Today it is common practice to terminate pregnancies when prenatal testing confirms that the child is afflicted with DEB in order to spare him or her the lifetime of constant pain and suffering the disease entails.


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    • Spongy0llama profile image

      Jake Brannen 5 years ago from Canada

      He was a spiritualist and had the deepest faith that he would be amongst angels after his death. I like to think that as well.

    • KenWu profile image

      KenWu 5 years ago from Malaysia

      This skin disease is horrible. Can't really imagine how a person suffers with this curse life. May god bless Jonny Kennedy's soul!

    • Spongy0llama profile image

      Jake Brannen 5 years ago from Canada

      Thank you for noticing. I wrote this hub for that very reason. I've researched the disease a lot myself after watching Jonny Kennedy's story (which had me crying at the end) and found all of the articles on it to be very scientific and impersonal. That is why I emphasize how terrible this disease is for those affected, rather than just the medical textbook style information.

    • Seeker7 profile image

      Helen Murphy Howell 5 years ago from Fife, Scotland

      An excellent hub that tells the story of this terrible illness with a lot of compassion rather than just the technical details and makes a refreshing change.

      I remember the documenatry about John Kennedy and it was one of the most moving things I had ever seen. This man's bravery was awesome! I think all the kids and adults who have to cope with this must have strong spirits and hearts to continually go through life with the debilitating pain that is there constant companion and they are a reminder to us all to be truly thankful for what we have.

      Excellent hub and very informative with great sensitivity - voted up!!

    • Spongy0llama profile image

      Jake Brannen 5 years ago from Canada

      I'm afraid we can always rationalize with the notion that it could be worse. However, you still have every right to sympathy for your condition and I hope that you some day find relief.

    • torrilynn profile image

      torrilynn 5 years ago

      hi SpongyOllama,

      wow i dont think even think that i would be able to deal with something such as this

      i thought i had it bad with Lupus but i see that there are far worst diseases out there than mine

      i see now that i am quite lucky after reading this article

      thanks and voted up

    • Spongy0llama profile image

      Jake Brannen 5 years ago from Canada

      Thank you. It's these incurable genetic disorders that scare me the most. Learning about this one in particular taught me the value of having a healthy body and dashed any sense of insecurity I ever had about my flaws.

    • Brett.Tesol profile image

      Brett Caulton 5 years ago from Thailand

      So unfortunate and almost impossible to live with. You have to admire those that continue to live interesting lives despite problems like this. I often wonder how those with allergies to water and/or the sun get on ... can't be easy!!

      Shared, pinned, tweeted, up and interesting.