Girl With Rare and Deadly Dwarfism Given One Year to Live. But She Defies the Odds

National   |   Sarah Zagorski   |   Oct 5, 2015   |   4:54PM   |   Washington, DC

In Australia, Isabela Corstorphan was born with an extremely rare form of dwarfism called Rhizomelic Chondrodysplasia Punctata (RCDP). According to the United States National Library of Medicine, the condition is characterized by a shortening of bones in the upper arms and thighs. However, the condition also causes intellectual disability, skeletal abnormalities, respiratory problems, heart issues, seizures and many other physical problems.

Although RCDP is often deadly, Isabela has defied the odds and recently celebrated her fourth birthday. Isabela’s mother Angelina Corstorphan told channel 7 News the following about her daughter’s condition: “You’re very lucky to reach four or five years old. So I’m one of the lucky few who’s still got my angel here.” Fox News previously reported that 60 percent of people with RCDP die within the first year, and 30 percent before their second birthday.

At birth, Isabela was given only a year to live and doctors advised Angelina to pursue hospice care. Thankfully, she refused and fought for her daughter’s life. Angelina explained that Isabela has undergone ten surgeries in the last four years and still undergoes countless testing and attends therapy. She said, “It was a tough first few months. No one had ever seen this condition before. No one had ever heard of it.”

Currently, Isabela is the only child in Australia to have RCDP and one of only 54 known-cases worldwide. Unfortunately, little is known about RCDP since there are so few cases and no financial benefit for scientists and pharmaceutical companies to find a cure. The good news is there is one scientist that has been studying RCPD for decades and recently partnered with a biotech company in Canada to start a clinical trial.

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Live Action News reports that Dr. Nancy Braverman is working with Phenomenome Discoveries to try and increase plasmalogen levels in children with RCDP, which could improve symptoms and prolong their lives. Angelina said her daughter has a beautiful smile and loves music. She concluded, “I’m sure if she could, if she could stand, she would always be dancing. If she could talk, she’d always be singing.”

As LifeNews previously reported, in 2014, Hannah and Sully Peters welcomed baby Jude into their family after rejecting abortion. Jude was diagnosed with RCDP before he was born and doctors told his parents to “terminate and try again.” Hannah explained, “They told me that he might not be compatible with life outside of the womb. Then when he was born, they sent him home on hospice and said he wouldn’t make it a few weeks.”

But, miraculously, Jude celebrated his first birthday in April. Hannah said the following about her son on Facebook: “On April, 17th 2014 at 3:06 am, I got to meet my son and my hero. Happy birthday, Jude Sullivan Peters. You’re the bravest, most joyful, loving, strong, life changing and beautiful boy.

It is my greatest honor and joy to be your mama. I would give you the world if I could. More reminiscent posts to come. I am the proudest mama to be celebrating my ONE YEAR old MIRACLE!!”

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