GREENSBORO, NC - Your baby's first steps, first words, first birthday. They're precious moments every parent looks forward to celebrating. But for one Greensboro family, those cherished happy times were filled with heartache.
Before Dillon Moore turned one, doctors diagnosed him with Sickle Cell Anemia and Duchenne Muscular Dystrophy. It's a debilitating and deadly combination so rare, doctors at Wake Forest Baptist Medical Center believe he's the only boy in the world to have it.
UPDATE: 'Happy 100th Infusion Day' Greensboro boy is beating the odds and excelling on a clinical trial to treat painful disease
When other babies his age were crawling or walking, Dillon couldn't move his legs. His mother Kandis Shaw knew right away, something was wrong.
"I cried for I want to say a whole month," explained Shaw.
At birth, doctors diagnosed Dillon with Sickle Cell. The genetic condition in itself is not rare and is passed onto children with both parents carry the Sickle Cell trait.
"The most common complications of people with Sickle Cell Disease is a pain crisis. The tissues are not getting oxygenation. They hurt; however pain crisis is just the tip of the iceberg because every single organ in the body is affected by the disease," explains Dr. Natalia Dixon.
Dr. Dixon is the Pediatric Hematologist at Brenner Children's Hospital who is treating Dillon for his Sickle Cell. Dillon also has Duchenne Muscular Dystrophy. It's a combination with a grim prognosis.
In Sickle Cell, misshapen red blood cells cannot provide enough oxygen to the body. And Duchenne is a progressive muscle-wasting disease affecting mostly boys who are confined to a wheelchair by the time their 12-years-old. Most patients do not survive past their mid-twenties.
Dillon has already had 20 hospital stays and fights for his life every day.
"You can imagine how I felt when they told me my only son at that has a terminal disease," said Shaw. "Sometimes I sit in the room and cry, but you just have to have faith that there’s going to be a cure one day."
Dillon's case caught the attention of Neurologist Michael Cartwright.
"I am not aware of any other person in the United States or even in the world having this combination," said Cartwright. "The really unique thing about Dillon is that he has a type of Duchenne that can be treated with gene therapy and that in Duchenne is about one out of 10% or 13% of people that can get that treatment. That makes the whole combination really rare."
Dillon is now apart of a clinical trial for a breakthrough medication called Exondys 51. The new FDA approved drug is delivering promising results.
Dillon started the Clinical Trial at Wake Forest Baptist Medical Center in February. By June, he took his first steps.
"One day Dillon got up and started walking! Dillon has learned how to run, not walk! And I’m like what is going on?"
Doctors are stunned by his strength and his movement.
With orthidic braces and a walker to use when he needs it; nothing is slowing Dillon down.
"If he was not on that clinical trial, he would not be able to walk by the time he was 5 or 6-years-old."
"We hope that he will have a great response to it in that they will walk longer, live longer do things they want to do: going to school, get jobs all that kind of stuff," said Dr. Cartwright.
For the family, it's a miracle drug but it's not a cure. It does, however, give them hope and a way to help others.
"I always want to know is there another like Dillon out there, so far there’s not so I just want everyone to hear his story. This story might help another child somewhere," said Shaw.
Speech therapy is next for Dillon. Right now, he's nonverbal, but with the help of a pathologist, his mother hopes he will be able to speak soon, so he can better communicate when he's in pain and maybe even one day say I love you.
Dillon's treatments are expensive and the family has started a GoFundMe account to help fill in the gaps. You can learn more about the page by clicking here.
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