Jul 27, 2010
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The Plight of Butterfly Babies



Merely days following the birth of Jackson Silver, his parents’ ecstasy and delight turned to sheer misery.

Post-birth during routine blood collection from the infant’s heel, the nurse noticed a chunky skin patch coming off along with the bandaging.

The baby was identified with an atypical heritable disorder, epidermolysis bullosa (EB) which tends to make the skin as delicate as the wings of butterflies. A protein responsible for binding the skin’s layers to each other was amiss in Jackson’s case.

A daily ordeal for Jackson’s parents at dawn was being hopeful that the child had not tattered the skin on his facial and neck region due to rubbing while asleep. They hoped that Jackson did not develop any oral or throat blisters which would hinder his eating habits for the day. All through the day Jackson’s parents would continually be checking his body for any blister formations and lancing them with big needles which at times would be excruciating for the child though they had no choice left but to pin him down to do it.

Around a lakh people from U.S. develop EB which is a set of ailments typified by blisters developing following small trauma to the skin. With inadequate therapy and zilch cure, people with the gravest type of EB face death in their thirties.

Nearly 22000 kids similar to Jackson ail from incurable recessive dystrophic EB, mostly known as ‘butterfly children’. Since their numbers are quite less hence there is dearth of incentives for the government or medicine firms to unearth a cure.

Jackson’s bathing ritual involved additions of bleach or vinegar to assist in killing the bacterial forms on his small body though it mostly would cause burning sensations and pains to the bare wounds on the child’s body. But Jackson’s father points out that despite all such agonizing challenges which could impel many of us into just giving up, his child would keep smiling although his body is gradually being wrecked due to this condition.

According to estimations provided by NORD (National Organization for Rare Disorders), around seven thousand atypical conditions affect thirty million people in the U.S. and just two hundred of them have FDA-accepted therapies. Though last year, the NIH had set aside thirty billion dollars still just 118 million dollars ended up in funding studies for such atypical conditions.

EB is a family of diseases, with recessive dystrophic being the nastiest of them. Due to this condition, the afflicted used to earlier die during infancy, however presently with improved wound tending and antibiotic medicines, they manage to survive till their twenties and thirties. However a sub-set of these people develop invasive cancer.

Majority of such conditions are present at birth and vary in acuteness from mild to acutely incapacitating and life-menacing conditions of the skin.

Blister formations occur due to the loss of connection between the duo – epidermal and dermal skin layers. Around eight to ten proteins are responsible for holding these skin layers as one and in case one of them is flawed the total connection is broken.

Not just the skin, however any region of the body having tissue presence secured together – like the eyelid, interiors of the oral cavity, genital and rectal region, upper esophageal region could be affected.

People with mild form of this disorder are generally unaware of it till sporadically they realize it. Infection is the biggest risk and such children are similar to toddling burn-victims. Kids having EB require greater calorific and protein intake as they are constantly dealing with oral sore formations, teeth conditions, stricture formations in the esophageal region. At times, the wound formations could be present in seventy-five percent of the body and even scarring the corneal and oral tissues. Just the frictions caused when the child eats could have a damaging impact on the esophageal area. Being stressed, tepid climatic conditions, infections could cause an outbreak of this condition and any types of friction (like those generated due to contact with diapers, clothes or bed sheets) could cause blisters.

The recent Stanford study is focussing on gene therapy wherein the skin cells of the EB patient are sampled, the right genes inserted in the laboratory after which the rectified skin is grafted back on. Clinical studies involving adults is due to commence shortly.

In the interim, Jackson’s parents are optimistic after the Senate hearing. Hopefully, with the joint backing of private sector and government, this disorder could be cured and such children would get the opportunity to live a healthful and painless existence.

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