‘DEVASTATING’ DISORDER
Mother shares what it’s like to care for a child with Epidermolysis Bullosa
Eleven-month-old Leo Leptich was Born with Epidermolysis Bullosa, A rare Condition that makes skin extremely fragile, with even slight friction leading to painful Blisters And skin tears. Leo’s family is hoping to make more people Aware of the Condition.
SASKATOON Until you notice the bandages covering the majority of 11-month-old Leo Leptich’s body, it would be easy to think he is a lot like other babies his age as he plays with various brightly coloured toys while watching Sesame Street in the family living room.
The bandages tell a different story. They are there to protect his incredibly fragile skin — caused by a rare, incurable genetic condition called Epidermolysis Bullosa (EB), in which the proteins that anchor the outer layer of skin to the layer underneath are missing, causing the upper layer to blister and even peel off with even the slightest amount of friction.
It also leads to a higher risk of developing skin cancer and can cut the patient’s life expectancy significantly.
Leo’s mother, Crystal Leptich, had never heard of it before she was rushed into an emergency Csection to deliver Leo.
“As soon as they pulled him out the first thing they said was, ‘We don’t know what’s wrong with him,’ ” she remembers. “They were talking about how they had never seen anything like this before and when they brought him over, we could see that his feet were purple and all the skin had been rubbed off.”
Leo received a tentative diagnosis the next day after doctors specializing in genetics and dermatology carried out examinations. After waiting nearly a month for genetic tests to be completed, the family received the official diagnosis — Leo was suffering from recessive dystrophic EB.
This diagnosis began a steep learning curve for the new parents. Everything had to be done with caution since something as simple as the seam in a onesie could cause blistering, tearing and severe pain when rubbed against Leo’s skin.
Even using the car seat had become a nightmare for the first five months, Crystal said. It didn’t seem to matter how diligently they wrapped and padded the car seat’s straps; Leo would still end up with large wounds.
“We read all the books on being new parents and we could have just thrown them in the garbage,” she said.
“It’s a lot of trial and error. We try our best to not have anything go wrong, but at least if something does go wrong, we can learn from it and make some modifications.”
EB can also cause problems for internal organs.
Crystal remembers one incident when coughing fits from a bronchial infection left Leo hospitalized because his throat became so blistered he was unable to swallow. Leo underwent surgery to fit him for a gastrostomy tube — ensuring he will always have the nutrition needed to aid his constantly healing body.
Now as he continues to develop, the milestones that are generally celebrated bring along new worries for his parents. He is already crawling, which Crystal says has led to more wounds on his knees. However, she takes some comfort in seeing how little it slows him down.
“He crawls and he rolls, he doesn’t let things bother him too much. He’s a pretty resilient little guy — always on the move.”
Crystal wanted to share her family’s story in advance of National Epidermolysis Bullosa Awareness Week — which takes place every year from Oct. 25-31 — in hopes of helping others understand the condition and to raise more funds to expand on the already promising research toward a cure.
“(EB) is rare, but the more that word gets out there — especially because it’s such a devastating, life-altering condition — the more people that know about it and can fundraise for it, the closer we get to a cure,” she said.
Awareness is also key for Crystal because while the condition is tough, it can be just as hard to cope with strangers who see her and Leo out together and begin to question her about his wounds — even when those questions have the best intentions.
“He’s going to be growing up, but even now people look at him and make comments that he is different,” she said.
“Sometimes I feel like I’m being judged a little bit when people ask, ‘Oh, did he get burned?’ It’s just sad that’s people’s first assumption when they look at us … It’s already the most stressful life you can be living, and having that outside perception is pretty tough to cope with.”
Life goes on for the family. Daily blister checks before breakfast have become a routine task. The weekly bandage changing sessions call for backup from grandma and grandpa — one to distract Leo and the other to hold him while Crystal or her husband rewrap his bandages.
It is all simply what it takes to raise the son they love unconditionally.
“It’s just what we do,” she said with a chuckle. “Who else has medical supplies all around their house? We can’t leave the house without our big bag of reinforcements.”