The Global Genes Project estimates some 300 million people worldwide are affected by a rare disease. For those stricken with rare diseases, every progress – however small – is a miracle.

Here, we provide glimpses into three rare diseases and the inner stirrings of these victims.

1. Epidermolysis bullosa


Like any chubby baby, Elizabeth had a round face and strong lungs except that she has no skin on the tops of her feet. With skin as fragile as a butterfly’s wings, she was diagnosed with epidermolysis bullosa (EB), commonly referred to as “butterfly children”.

Her parents, Heather and Kevin, were left helpless with a baby whose skin is covered with lesions, and they were scared to touch as her skin would blister easily.

Brett Kopelan, director of Dystrophic Epidermolysis Bullosa Research Association of America (DEBRA), had coined it “the worst disease you’ve never heard of”.

According to DEBRA, one in 20,000 people – or 200 American babies a year – are born with EB, which results when cells are missing a protein that binds the skin together. The cases vary from mild to severe where some are likely to die in infancy. For others, their lives are scarred by painful blisters and fingers that fuse together, with a high propensity to develop skin cancer in their adult life.

There is no cure for EB, only stopgap treatments, which means Heather and Kevin would have to spend most of their waking moments puncturing blisters and wrapping the sores to prevent infection.

Last June, Elizabeth’s genetic tests came back from Cincinnati Children’s Hospital, showing that she has EB Simplex, Generalised Severe which was caused by a fluke genetic mutation.

Fortunately, there are upcoming gene and protein therapies, although all are still in clinical trials.

According to Anne Lucky, paediatric dermatologist at the clinic, and “we tell them ahead of time that we don’t have a cure. We tell them we do everything we can to make life as normal as possible.”

2. Ectodermal dysplasia


Melanie Gaydos hated having her photo taken but was encouraged to model by a boyfriend. Photo credit: melaniegaydos/Instagram
Melanie Gaydos hated having her photo taken but was encouraged to model by a boyfriend. Photo credit: melaniegaydos/Instagram

Melanie Gaydos, 28, a partially blind art graduate, is a model who defies conventional beauty. Born with a rare genetic disorder called ectodermal dysplasia (EDA), which has prevented her teeth, pores, nails, cartilage and bones from developing, Gaydos has carved out a successful modelling career, breaking boundaries in high fashion.

Though she has alopecia, she rejects enhancements like dentures and wigs because she has forced herself to “learn more about who [she] was and to become more comfortable with who [she is]”.
At 26, she had three dental implants and her first set of dentures after her appearance on a reality TV show. However, eight months later, she took them out, never to wear them again.

"Maybe other people think I am incomplete, but that is only because they have teeth or know what that is like and cannot understand or picture what it's like without any.”

“I don't miss having teeth because I never really had them to begin with,” she added.

EDA is not a single disorder, but a group of closely related conditions of which more than 150 different syndromes have been identified.

A new treatment, which started its clinical trials in 2012, is a recombinant protein that initiates a cascade of molecular and cellular events that leads to the proper development of hair, teeth and sweat glands, said Dr. Anand Srivastava, associate director at Greenwood Genetic Centre (GGC).

“The drug is showing great promise as a therapy and potential cure for patients with EDA,” said Srivastava.

“We are so excited that our work here at GGC has been instrumental in the understanding of this disease that has led to this breakthrough.”

3 Hirschsprung's disease (HD)


Chinese doctors removed 28 pounds of feces from the bowels of a 22-year-old man who was reportedly constipated since birth. Photo credit: Asia Wire/Daily Mail
Chinese doctors removed 28 pounds of feces from the bowels of a 22-year-old man who was reportedly constipated since birth. Photo credit: Asia Wire/Daily Mail

Constipated since birth, a 22-year-old man had 30 inches of his enlarged bowel, together with 28 pounds of faeces, removed by surgeons at Tenth People's Hospital of Shanghai in China.

According to doctors, the man looked “like he was about to explode”, and his condition was described as Hirschsprung's disease (HD), which causes the bowels to swell because the nerves that are supposed to control the gut are missing. The patient had used laxatives which only offered temporary relief.

Dr Yin Lu said the procedure lasted three hours and after removing his gut, surgeons stitched it up at both ends to stop faeces from falling out.

HD is congenital and causes faeces to be stuck in the bowels. It usually causes visually noticeable symptoms from birth, although sometimes it is not obvious until a child is a little older. In young children, signs include a swollen stomach, persistent constipation, failure to thrive, not eating well and gaining lots of weight.

Uncommonly diagnosed in adults, HD affects one in every 5,000 babies. It is more common among boys and is sometimes associated with genetic diseases such as Down’s syndrome. MIMS

Read more:
Elastic girl with rare disease battles with a broken body
Woman allergic to own husband due to rare autoimmune disorder
5 unusual genes that create real-life superheroes

Sources:
http://www.independent.co.uk/life-style/health-and-families/butterfly-babies-a7766571.html
http://www.independent.co.uk/life-style/fashion/melanie-gaydos-model-genetic-disorder-fashion-rules-ectodermal-dysplasia-a7776836.html
http://www.dailymail.co.uk/health/article-4597924/Doctors-remove-28-pounds-feces-constipated-man.html
http://www.ectodermaldysplasia.org/whatised.php
http://www.independent.co.uk/news/people/melanie-gaydos-partially-blind-art-graduate-born-with-rare-condition-launches-successful-modelling-10483314.html
https://globalgenes.org/raredaily/possible-new-treatment-for-ectodermal-dysplasia-through-research-at-greenwood-genetic-center/
http://www.thedoctorstv.com/articles/2871-model-discusses-rare-genetic-condition-affecting-her-appearance