Severe hypophosphatasia left Janelly Martinez-Amador of Tennessee unable to form bones. Doctors expected her to die shortly after birth, but the little girl held on until a breakthrough drug was developed. Six years later, she’s developing a skeleton and learning to walk — even dance.
- Severe hypophosphatasia left Janelly Martinez-Amador of Tennessee unable to form bones.
- Janelly was one of 11 children in the world to undergo a breakthrough drug treatment.
- Janelly suffers from a severe bone disorder, hypophosphatasia. Thanks to a new drug, she’s finally developing a skeleton.
- Six years later, she’s developing a skeleton and learning to walk — even dance.
- Despite her delayed bone development, Janelly Martinez-Amador is described as an “alert” little girl who smiles and waves.
- When Janelly Martinez-Amador was born without bones, doctors gave the tiny baby swaddled in pink a day or two to live.
She had no ribs to support breathing, no skull to protect her brain and was unable to move her own body.
Six years later, she’s on her feet and learning how to dance.
Janelly was treated with a breakthrough enzyme drug that’s helping her develop a skeleton. She was one of 11 children in the world to undergo a clinical trial to treat severe hypophosphatasia (HPP), a disorder that prevents bone mineralization.
“You can imagine what it’s like to feel the fingers or arms of someone who doesn’t have bone,” Dr. Jill Simmons, a pediatrician who worked with Janelly at the Monroe Carell Jr. Children’s Hospital at Vanderbilt in Nashville, told the Daily News.
“You squeeze the arm and it feels soft or rubbery,” she said.
Doctors were skeptical the new drug would work — of all the children, Janelly’s case was by far the worse.
“We were fearful that her bone disease was so terribly severe that it might not work,” Dr. Michael Whyte, who led the study, said in a statement.
“But by looking at the X-rays and hearing about her visits, we were thrilled to hear about her progress,” said Whyte, a director at the Center for Metabolic Bone Disease and Molecular Research at Shriners Hospitals for Children in St. Louis.
Janelly was 2 years old — already surpassing doctors’ expectations — when she began treatment. She received the medication through a port surgically inserted into her abdomen.
Eighteen months later, a rib cage began to show in her X-ray.
She could move her limbs, reach for things and roll over.
“Before the medication, she lived the majority of her life in the ICU on a ventilator with frequent infections and a feeding tube,” Simmons said.
Now she has a skeleton.
“It’s becoming more normal every day. When she started to develop calcification, it fortunately developed in the right places,” Simmons said.
“She’s very alert. Smiles, waves.”
This month, Whyte traveled from St. Louis to Nashville to meet Janelly and her parents for the first time, The Tennessean reported.
“Her fingers, can I feel them?” he asked, before holding Janelly’s delicate hands.
Because of the delayed bone development, the 6-year-old girl still looks like a toddler.
She uses a stroller to get around and is learning how to communicate non-verbally, since a tracheostomy tube prevents her from talking.
The hospital plans to remove the tube this spring.
Children with HPP don’t normally suffer cognitive problems, but because Janelly’s case was so severe, she missed out on a normal childhood.
“She could only experience what her parents put right in front of her eye,” Simmons said.
It’s not clear how the treatment will affect her long-term development, but doctors hope Janelly will eventually catch up to kids her own age.
HPP occurs in only 1 out of every 100,000 infants. Most die before their first birthday.