birth defects

Parents Honor Their Dying Daughter's End-Of-Life Choice

At 5 years old, Julianna Snow has been to the hospital enough times to know that it’s not a place she wants to return. Even if it means that it could prolong her life. So she’s asked her parents if she could go to heaven instead, and they are adhering to her wishes. Julianna has... Read more

"Normal Babies Look Weird To Us"

Baby Jaxon Buell, who was born with part of his brain and skull missing.Facebook
At fourteen months old, Jaxon has outlived everyone's expectations. And when he started to utter "mama" and "daddy," he blew them away again. The reason? Jaxon was born with a shrunken head and severe brain malformation. The official diagnosis -- which took months to get -- is microhydranencephaly. He has no cerebral cortex and his cerebellum,... Read more

3-Year-Old With Growth Disorder Is Already Twice As Tall As His Peers

Talles toddler James Whatley poses next to friendSWNS
Meet James Whatley, deemed one of Britain's tallest toddlers. Although, now three years old, James has technically outgrown toddlerhood. And at four feet tall, he's shot right past it. James was born with Sotos syndrome, caused by a mutation in the NSD1 gene that causes rapid growth early in life. It's coupled with learning disabilities and impaired... Read more

Better Perception Skills, Better Chance Of Autism

baby autism riskThinkstock
Roughly one out of every 68 kids are diagnosed with autism in the US, although not usually before ages four or five. But new research is identifying superior perceptual skills linked to the disorder early in infancy, before the onset of other symptoms. And it's suggesting this advanced perception be the hallmark of autism, rather than social... Read more

Why Are Celebrities Tweeting About Batten Disease?

Charlotte Gray runningGray Foundation
Four-year-old Charlotte and two-year-old Gwenyth look like healthy, normal little girls. And they are, for now. But the Gray sisters both have Batten Disease, meaning their life expectancy is only six to twelve years old. They're the daughters of film producer Gordon Gray, each diagnosed with a neurodegenerative disease that's both fast and fatal. While... Read more

6-Year-Old Audrey is Dancing for a Cure

Audrey NetheryFacebook
Meet Audrey, the six-year-old with better dance moves than you. The Kentucky native really shines in the Zumba circuit. But don't take our word for it, watch the video: Pretty impressive. But it's the motive behind Audrey's moves that's garnered the video nearly 16 million views. Audrey was born with Diamond Blackfan Anemia, a rare blood... Read more

Aw! Toddler Without Feet Gets Puppy Without Paw

toddler and dog with no pawHeidi Heilbrunn/Greenville News
Born without feet, three-year-old Sapphyre just had her final doctors appointment for prosthetics. While most kids leave the hospital with stuffed animals and balloons, Sapphyre got to go home with a new puppy. And he's missing a paw. The story is almost too cute to believe. And it gets better: Breeder Karen Riddle named the White German Shepard... Read more

No Nose, No Problem: Baby Eli's Story

baby without noseSharon Steinmann
“He’s just like any other baby. He just doesn’t have a nose.” That's the latest update from Brandi McGlathery, the 23-year-old mom of miracle baby Eli. Eli was born on March 4 with a congenital arhinia, a condition so rare that only 41 cases have been documented worldwide. McGlathery seemed to realize something was wrong before... Read more

Demystifying Fetal Surgery: Behind the Scenes of 'Twice Born'

Shelly and Bobby Ross from Twice BornPBS
You've heard about birth defects. You've probably heard of the rare in-utero surgeries that can help correct them. But now, you'll actually be able to see them. Tuesday night marks the premiere of Twice Born, a three-part PBS documentary profiling the parents, doctors and babies involved in fetal surgery at the Children's Hospital of Philadelphia.... Read more

Louisiana Baby Born with Half of Heart

aiden rodgersTexas Children's Hospital/Rodgers Family
The upside is that they caught the problem early. Aiden Rodgers, now 10 months old, was diagnosed with hypoplastic left heart syndrome (HLHS) as a 20-week-old fetus. Affecting about one in 6,000 live births, HLHS is a defect that causes the left side of the heart to stop developing. An underdeveloped left ventricle, mitral valve... Read more