Twins With Rare Disease Fight to Survive After Losing Older Brother to Same Illness 11 Years Ago
Charlie and Kolton Martin, who are only two months old, must get painful injections to raise their copper levels.
These newborn twins have the same deadly illness that took their older brother’s life more than 10 years ago, but doctors are hopeful that getting them medication in the nick of time will give them a positive outlook on their future.
Charlie and Kolton Martin, 2-month-old twins living in Iowa, have Menkes disease. The rare neurodegenerative disorder is caused by a genetic mutation on the X-chromosome. It is believed to only affect 1 in 100,000 babies but because it is significantly more common in boys, many experts believe the condition goes undiagnosed in many girls.
Not only did both twins test positive for the rare genetic disease in utero, but the disease also killed their older brother Dylan.
“My first one would have been 13 this year – 14 in July,” single mom Alyssa Martin told InsideEdition.com. “He was diagnosed with Menkes syndrome at 4 months and started treatment. He passed away when he was 25 months.”
Their doctor, Dr. Amy Calhoun, a metabolic geneticist at the University of Iowa’s Stead Family Children’s Hospital, explained the disease affects copper absorption in the body.
“We don’t always realize how important copper is for your body – when you think about copper, it’s a metal, what do I need it for?” Calhoun told InsideEdition.com. “It actually is a very important subunit in many different body processes.”
She explained that copper affects nerve and brain function, and contributes to tissue elasticity.
“So they can have problems with their bladder getting really stretchy, they can have problems with their bones, they have a lot of problems with their airway and breathing – your lungs actually need to be really stretchy and have a lot of elasticity and bounce back,” Calhoun explained.
While Dylan was born premature, he spent his first few weeks a healthy infant. He eventually began having unexplained seizures at a few months old.
Extensive tests on both Dylan and his mom eventually determined he had Menkes, and even though they began treatment almost right away, the disease progressed too quickly for the medicine to catch up.
“Four months after he started, he stopped eating, and when he turned a year old, they put in a feeding tube,” Martin recalled. “He was on oxygen most times. Then he kind of went backwards – he went from being able to hold his head up to not being able to. He couldn’t sit on his own or anything.”
Calhoun explained neurodegernation is typical of kids with Menkes.
“What’s really hard on families is regression,” Calhoun said. “It’s so tough – you never want to see your kid learning something then not being able to do it.”
After Dylan’s death, Martin said she was scared to get pregnant again but knew she wanted to have more kids.
“I knew if I had a boy, there was a fifty-fifty chance,” Martin recalled. When she found out she was pregnant with a girl, “that kind of relieved our minds. She was pretty much a breeze.”
Her daughter Natalie is now a healthy and thriving 4-year-old.
While Martin originally wanted to stop with Natalie, she became pregnant again to twins shortly after. Even though she was told because she had twins, there was only a 25 percent chance either of them would have Menkes, an early blood test showed they both had the terrifying illness.
“They said I was pretty much unlucky,” Martin said.
Calhoun explained they jumped right into action after the early blood test, making sure they had a medical team in place to treat the boys from the moment they were born.
Charlie and Kolton were also born premature, typical of kids with Menkes, and began painful copper chloride injections as they awaited more experimental medications.
“She has to do the injections twice a day,” Calhoun explained. “It makes this blister and they’re about two or three centimeters, and they’re bright red, raised, you can feel fluid under there, if you press on it, it’s squishy and it’s super sore.”
Even though the injections are extremely irritating, Calhoun explained it was crucial they raise copper levels in their bodies before any symptoms set in.
“If they start early enough, [they can] live normal lives, perfectly fine,” Martin said. “It was just kind of rough on them, pretty painful.”
In the meantime, Martin’s spirit is strong and her family takes it one day at a time.
“She’s so calm and together that she can actually ask the right question instead of just losing it, which is really impressive,” Calhoun said. “It’s been one thing after another with the guys and she just holds it together and does what the guys need.”
“For a while, I was stuck on the negatives,” Martin said. “They’re going to be wheelchair bound, most of them don’t live over age 3. Now I’m just hopeful that they can be in sports, go to school, just that we can move forward and not worry about injections they have to do every day and all the medicine, and they can be happy.”
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