One mom's mission to find cure for son's rare disease
Sandra Sermone's son Tony lives with a disease so rare that four years ago, only 10 other cases in the world had been diagnosed. When she looked for more information, she learned there was only one study about the disorder."I read that publication probably 50 times," Sermone said. "And I ended up saying I need to find these 10 parents."She created her own database, website and patient registry, which has now identified more than 150 other children with the same condition. © Provided by CBS Interactive Inc. Recently, some of those families met face to face."It's very emotional.
“ She was bleeding from the mouth when she was born and she had a cut on her leg,” Emily, 36, tells PEOPLE. “When they gave her a bath, some of her skin came off on her ankle.” Shortly after, doctors diagnosed Elodie with a type of epidermolysis bullosa (EB), a rare disease that results in fragile skin
Elodie Kukib has a rare disease that results in fragile skin prone to blistering and minor injuries. There is no cure for the condition, but her parents The mother of the 21-month-old Minnesota toddler who has a rare and serious allergy to water says that while her daughter’s condition is worsening, she ’ s
Emily and David Kukib, of Riverside, Connecticut, knew there was something different about their daughter Elodie the moment they welcomed the little girl in July 2016.
“She was bleeding from the mouth when she was born and she had a cut on her leg,” Emily, 36, tells PEOPLE. “When they gave her a bath, some of her skin came off on her ankle.”
Shortly after, doctors diagnosed Elodie with a type of epidermolysis bullosa (EB), a rare disease that results in fragile skin prone to blistering and minor injuries. In some cases, wounds and blisters can appear inside the body. There is no cure for the condition.
“It was devastating. My husband and I were both carriers of the [genetic] mutation that led to this disease and had no idea,” the mom of one says. “A lot of our hopes and dreams for our child and how parenthood would be were almost immediately dashed. We had to learn about this illness that we had never heard of. It was confusing and sad and very difficult to come to terms with this diagnosis.”
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One mom' s mission to find cure for son' s rare disease . Sandra Sermone' s son Tony lives with a disease so rare that four years ago, only 10 other Elodie Kukib has a rare disease that results in fragile skin prone to blistering and minor injuries. There is no cure for the condition, but her parents
Some skin disorders , like contact dermatitis, are temporary and relatively minor, while others, like psoriasis, are permanent and have more serious effects. Skin disorders vary greatly in symptoms and severity. They can be temporary or permanent, and may be painless or painful.
Now, the parents put “specialized bandages” on the 20-month-old’s feet, hands and core area each morning and night to protect her skin, Emily says. Elodie can’t wear regular bandages because the patches “would take her skin off.”
“Her skin, it looks completely normal on the parts that don’t have wounds,” Emily tells PEOPLE. “It’s just very fragile, if she rubs on something she’ll take some of her skin off.”
So, the Kubiks have set out to find a cure for the illness, teaming up with theto raise money to fund the research that will lead to treatment for the condition and ultimately a cure. A group of Emily’s friends have rallied behind the family and started the , to raise awareness about the condition and encourage the public to donate to the cause.
Mom of Toddler Who Is Allergic to Water Says Her Condition Is 'Getting Worse'
Ivy Angerman has a rare condition in which hives develop rapidly after the skin comes in contact with water, Everything from Ivy’s own tears to her sweat can cause a reaction.In October 2017, Ivy Angerman, of Hastings, Minnesota, was diagnosed with aquagenic urticaria, a rare condition in which urticaria [hives] develop rapidly after the skin comes in contact with water, regardless of its temperature, according to the Genetic and Rare Diseases Information Center.
Couple whose toddler has a rare terminal genetic disease are fighting for a drug that could save the The disease is causing the toddler ' s muscles to slowly stop working His parents are now petitioning for a new drug to become available
She ' s been diagnosed with mast cell activation syndrome, a rare and progressive immunological condition that has forced her to live in isolation Elodie Kukib has a rare disease that results in fragile skin prone to blistering and minor injuries. There is no cure for the condition, but her parents aren't
“From the moment we knew Elodie had EB, we asked [Emily] what we could do to help,” Emily’s longtime friend Kristan Khtikian who began the challenge, tells PEOPLE. “She always said you can help by acting. She and her husband have really been such incredible models of rather than staying in grief mode they’ve decided to work to heal EB and that’s their goal.”
With that, Khtikian wanted to “make a splash” with a special movement, so the group decided on a polar plunge — in which participants jump into chilly water.
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