DAVENPORT, Iowa-- There's a Davenport home full of love. Four-year-old Natalie Martin is making sure everyone gets a heart sticker this Valentine's Day, from the cats to the TV crew visiting her mom. She's even making sure her nearly two-month-old baby brothers Charlie and Colton get one.
Natalie's mom, Alyssa Martin, welcomed her twins into the world on December 17, 2018. She says they're easy-going.
"They're not that needy," she says. "It's just clock-work. Four hours they want to be changed, they want to be held, they want to be fed."
Martin says they're perfect.
"I can't even believe they have that diagnosis," she says.
Before Colton and Charlie were born, they tested positive for a genetic disorder called Menkes Disease. It's a rare disease, affecting one in every 100,000 babies, usually boys, according to the Menkes Foundation.
"So when you have Menkes, you cannot properly absorb the copper from your food," says Dr. Amy Calhoun, the twin's doctor at the University of Iowa Children's Hospital. "The brain doesn't work right. So they have seizures and developmental delays. The tissues that hold your body together like your skin and your tendons are abnormal. So you'll have loose, saggy skin."
Dr. Calhoun most Menkes babies don't live longer than five years, with even fewer living to be ten years old.
It's a disease Martin is already too familiar with. Her first son Dylan, born in 2005, was diagnosed with it at three months old when he started having seizures. Martin started copper injections to try and combat his symptoms.
"We did all the treatment that we could," Martin says. "We didn't find it until later, so it was just too late."
Dylan died a month after his second birthday.
After her twin's diagnosis, Martin decided to try an experimental drug to give her baby boys the best chancing at fighting Menkes. But getting that medicine was a challenge.
"It just seemed like it dragged from there, and Dr. Calhoun was fighting," Martin says.
Dr. Calhoun says she had dozens of pages of paperwork and reports to fill out before being approved for the experimental medicine.
"From the time we started working on the paperwork until we got the medicine, it was five weeks," she says.
In the meantime, they started the FDA-approved copper injections. Dr. Calhoun says those injections are like injecting vinegar into your skin, leaving Charlie and Colton with burning welts.
"They would scream," Martin says, who had to give the injections at home each day. "Sometimes it would be inconsolable."
And after weeks of waiting, the medicine still hadn't arrived. It was stuck at the airport because the polar vortex last month stopped some postal carriers from working.
Dr. Calhoun says a University of Iowa Hospital employee drove to the airport to pick up the medicine for the Martin twins.
"I didn't know until after the fact that they had had that initiative to go and get it and make sure that it was there," Martin says.
The twins have been on their new medicine for two weeks now.
"And their copper levels are looking really good. And the guys are both looking really good," Dr. Calhoun says.
She says many Menkes babies who respond well to treatment will live longer lives with some symptoms. She says some even lead relatively symptom-free lives.
Charlie and Colton will continue treatment for months or years before doctors can say for sure how well it's fighting Menkes.
"(The new drug has) been a complete turn around from what they were experiencing," Martin says.
For now, Martin says she's taking things one day at a time, with doctors visits multiple times a week and shots twice a day for each baby.
She says she hopes her story will raise awareness about Menkes, giving some parents the knowledge they need to catch early indicators of Menkes. She also says people wanting to help can donate to the Menkes Foundation.
