The first words Leo Leptich’s parents heard from doctors after his birth by emergency Caesarian section were, “We don’t know what’s wrong with him.”
All of the skin on Leo’s feet had been sheared off from the friction of birth.
Four-month-old Leo has epidermolysis bullosa (EB), a rare condition that causes his skin to break and blister at the slightest friction.
EB affects one in 17,000 to 20,000 live births. There here is no known cure, according to Dystrophic Epidermolysis Bullosa Research Association (DEBRA) of Canada, a non-profit organization dedicated to providing support for families affected by EB. The work of DEBRA is recognized by the Canadian Dermatology Association.
People with EB are sometimes called “butterfly children” due to their extremely fragile skin.
Parents Crystal Normand and Adam Leptich carry Leo around in a special blanket that protects his skin from rubbing on anything, even their own hands.
“Any type of slight friction can cause blisters or else his skin to rub right off,” Normand said. “So we have to be careful with things like seams in clothing even.”
No cure, no treatment
Sunlight fills the Leptich-Normand home on a cold spring morning in Saskatoon. Leo is wearing a “Made in SK” T-shirt and bandages which cover his legs and arms for their full, tiny length.
Stuffed animals, bright-coloured books and the mobile above the crib live alongside a medical cabinet at the end of the change table, filled with gauze and other tools needed to dress Leo’s wounds.
Most of the damage from birth has healed now, but the challenges are only just beginning.
All that Leptich and Normand can do is try to protect Leo and minimize the inevitable trauma — which is easier said than done.
The car seat was particularly trying, Normand said.
“The first few outings, every time we went out, he would have a different wound in a different place, and it was never what we anticipated.”
They’ve had to make creative adaptations to his car seat, like putting a foam piece between his legs and padding in different places.
They even plan their routes so that they don’t go down bumpy roads.
The condition can also affect the mouth and throat, making it painful for Leo to eat.
‘We’ve never felt alone’
It takes them 45 minutes a day to change the bandages. Some can be left on for about a week, but then require about 90 minutes to change.
Normand has been blogging about her family’s experience on Facebook because she wanted to raise awareness about the condition, and answer questions for her friends and family that they might be too shy to ask.
She has also found the blog helps her through some of the difficult times.
“Personally it was really almost therapeutic or cathartic to speak about it, take some of the power away from the condition. So by talking about it helped me to come to terms with it and go beyond that,” Normand said.
She said friends and family have been incredibly supportive, as have complete strangers.
Leptich and Normand are both big fans of the Saskatchewan Rush, a professional box lacrosse team based in Saskatoon. They told their parents they were pregnant by showing a baby-sized Rush jersey. The family recently got a shout-out at a Rush game.
“We’ve never felt alone in this process and that has been the most vital thing in us coping with this.”
Hope for the future
While there are currently no treatments for EB, the future looks promising using gene-editing technologies like CRISPR.
Scientists can essentially remove or insert sequences into the genes of any living thing using CRISPR, but there is some question as to its usefulness with human genes.
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Children with EB are already undergoing experimental treatments in which they receive corrected cells or skin grafts.
“Of all the genetic conditions, this is probably the one that’s got the most hope for a cure or a really effective treatment, and it’s hopeful that will be done in the next five years or so,” Normand said.
“It’s kind of an exciting thing for us, the prospect that he could be healed by the time he’s ready to attend school.”