Mark Jaquez, Living with Epidermolysis Bullosa: a Rare Patient Story

By Danielle Bradshaw from In The Cloud Copy

19-year-old Marky Jaquez’s feet have never touched the ground because the sensitive skin of his soles would tear away. As such, he has been wheelchair-bound his entire life. The young man from Wichita, Kansas, can’t make physical contact with others or wear clothing because the slightest amount of friction will result in his skin peeling off. To reduce the chances of this happening, Marky wears bandages across his entire body as a means of protection. The reason behind his weakened skin is a condition called recessive dystrophic epidermolysis bullosa.

What is Epidermolysis Bullosa?

At its core, epidermolysis bullosa is a collection of rare diseases that result in a person suffering from fragile, blistering skin. There are three main types of epidermolysis bullosa, but the type that Marky has, recessive dystrophic, means that his variation was inherited via recessive traits from both of his parents and that it is the result of a defect in the gene that helps to produce a kind of collagen that gives human skin its durability and strength. The lack of this collagen can also result in the skin’s layers joining together improperly.

The general complications caused by epidermolysis bullosa are:

  • Easily contracting infections due to blistering skin
  • Fusion of fingers and abnormal joints (this can affect the functionality of elbows, fingers, and knees)
  • Issues with nutritional intake due to painful blisters in the mouth
  • Constipation which can be caused by painful blisters in the anal region or insufficient liquids
  • Potential for developing skin cancer
  • Death from loss of bodily fluids from constant blistering as well as complications from being unable to properly eat or breathe.

Marky’s Story

Marky is actually the youngest of a trio of kids; his eldest brother, Michael is 24 and there was the second oldest, Carlos, who tragically passed away due to his bout with epidermolysis bullosa in 2015 at age 14. Their mother, Melissa, was told by doctors that it was suspected that both she and their father, (from whom she is currently separated) carried the mutation that causes the disease.

While neither Melissa nor her children’s father are actually affected, their chances of giving birth to a child with the illness were around 25%. Doctors warned that Marky was not likely to live past 11, but he totally defied those odds and is now looking forward to celebrating his 20th birthday later this year.

A Little Perspective from Melissa Jaquez

By the time Carlos was born, Melissa said that while she understood the risks of having a child, she was also told that her chances of a second child having epidermolysis bullosa were under 1%.

She said that Carlos’s death was caused by heart failure brought on by the genetic disorder; his body was working so hard to repair itself that the strain eventually left its mark. She says Carlos’ condition was more progressive than Marky’s, and as his body shut down, he was unable to breathe without assistance.

Marky’s epidermolysis bullosa was especially severe and as a result, he was born without skin on certain areas of his body as it was rubbed off during childbirth. From the time Marky was little, his mother had to spend three hours each day cleaning wounds and wrapping him in bandages. Melissa has said that her son’s condition has made both motherhood and building a normal relationship with him difficult.

She says that because of how fragile his skin is that they can’t just hang out and have fun like other mothers and sons can. Instead, she has to spend hours soaking his skin to soothe his wounds, redoing his bandages, and giving him pain medication, which makes her feel a great deal of anxiety and guilt.

What the Future Holds for Marky

Although there is no cure for the disorder, Melissa is hopeful that her son will survive for many more years to come. Marky was chosen to take part in an experimental treatment that will take place at Stamford Hospital in Connecticut. The procedure involves the creation of genetically modified stem cells which are meant to slow the disease’s progression.

Melissa says that Marky has always been incredibly happy and has never let his condition get in the way of living life. She says that her son is an incredible person and that he makes her very proud.

Learn more about Marky’s story here.

Follow us