The day you give birth can be the happiest day of your life -- but also the scariest. Is the baby okay? Healthy? Have all her fingers and toes? Imagine giving birth to a beautiful baby girl only to realize she has -- no bones! OMG. Horrible. That's what happened to Salvador Martinez and Janet Amador of Nashville, Tennessee. Their daughter, Janelly, was born with a severe case of hypophosphatasia, a genetic disorder that prevents a child from developing a skeleton! Usually babies like this die before their first birthday, but Janelly was a miracle from the start and outlived doctors' predictions. Then, close to her third birthday, something even more extraordinary happened.
Janelly was able to start an experimental drug that doctors and her family hoped would begin to grow bones inside her tiny body. Janelly was the tiniest and youngest person to start the experimental drug -- and she was also the worst off. Her disease was so severe that she was left unable to move and had lived all of her short life hooked up to a ventilator and with a tube down her throat.
Janelly's mom says she began noticing when she was a baby that she wasn't growing right. And she responded to hugs from her parents as if she were in pain. The only thing that made her comfortable was being propped on a pillow. Can you imagine what these parents went through being unable to touch their daughter or soothe her when she cried?
She was diagnosed at 4 months old and told she probably wouldn't live much longer. The disease occurs in only one out of every 100,000 babies. But Janelly defied the odds and hung on until she was almost 3 and a drug was invented that could possibly give her a normal life. Alexion Pharmaceuticals funded the trial of the "orphan drug" -- a drug without enough people for there to be a market for it, which means companies basically foot the bill.
The drug, asfotase alfa, didn't work on Janelly right away like it did the other children. After six months, she still wasn't showing much progress. But her parents saw something the doctors didn't -- they noticed that she was gaining muscle control and moving more easily.
After a year of treatment, Janelly was finally able to move all of her limbs. After 18 months, doctors saw that she was forming ribs. Soon, she was able to be taken off the respirator.
Now almost 7, Janelly still looks like a toddler. But she is adorable, and able to walk around in her stroller, roll over, and even dance. Her parents took a chance giving her such an experimental drug, but it worked out. Amazing! Just look how happy this little girl looks. She is truly inspiration. Children have such a way of handling stress with such aplomb.
Would you give your child a drug no one had ever taken before if it meant a chance at a normal life? Check out this video, and get some tissues handy:
Image via The Tennessean