Mom loses son to Menkes syndrome now says fighting to raise awareness about the disease to save other young lives
TJ Willis has lost his battle with Menkes syndrome, but his mom said she knows her young son will make a difference in the world.
"We feel like if we can save one little boy, we've done what we needed to do for TJ," Darcy Willis said.
Six-month-old TJ died Christmas Eve from the rare, terminal genetic disease he was diagnosed with when he was 16 weeks old. Born June 19, TJ initially spent two weeks in the neonatal intensive care unit. He was hypothermic and had kinky hair, which Darcy said she later learned are common indicators of Menkes.
"But most doctors don't know about Menkes," said Darcy, who added TJ was released from the hospital even though he had a temperatures of 94 or 95 degrees. "They'd say he was clinically fine, but that (the temperature) was just a weird thing."
Darcy, who grew up in Glencoe, and her husband, Tom, who is from Lake Forest, knew something wasn't right, especially when TJ started having feeding issues.
"Most Menkes kids have a feeding intolerance," Darcy said. "He was weeping in pain."
Initially, doctors thought TJ was suffering from ectodermal dysplasia, which causes abnormal development in areas such as skin, hair and teeth. However, an X-ray of TJ's mouth, showed he had perfect teeth, eliminating that possibility.
The Chicago family consulted with a genetic doctor at the Ann & Robert H. Lurie Children's Hospital.
"Within two minutes, (Dr. Brad Angle) said TJ either had Menkes or he was fine," Darcy said. An initial blood test showed an abnormally low amount of copper. Menkes is a copper transport syndrome, Darcy said, and copper is needed for proper brain development.
A genetic test confirmed the Menkes gene mutation six weeks later. Darcy noted while Menkes is typically passed from mother to child, a genetic test confirmed she was not a carrier of the syndrome. Menkes occurs in one in every 100,000 to 250,000 live births, Darcy said. The wide range, she said, is attributed to most health professionals not knowing about Menkes.
According to the Menkes Foundation, the disease prohibits the intestines from absorbing copper. A variety of symptoms can result, including kinky hair, feeding problems, seizures, respiratory problems and brittle bones.
What makes the diagnosis difficult is symptoms typically don't appear until after a few months, Angle said.
"They're rarely diagnosed in the first few months of life unless there's a genetic link," he said.
Angle said most children with the disease die within the first few years of life, though some uncommon, milder cases can result in children living into their teens.
Darcy Willis said her goal now is raising awareness about Menkes in hopes of saving at least one life.
"It's pretty rare, but not rare enough that people are never going to see this," she said. "It's a terminal disease, but there is a (copper) treatment if they are treated within the first 10 days of life. It's critical that people learn about this so kids can get treatment in time."
The Menkes Foundation aims to spread the word about Menkes, and it's a cause Darcy has embraced. She shares her family's story and regular updates in a blog, http://supportingtj.weebly.com/updates.html.
"More people, including doctors, should know about this. It's all about early diagnosis," she said.
Dara Dietmeyer, Darcy's sister-in-law, said it's clear through Darcy's blog posts "her faith is carrying through this difficult time."
"She has always had an incredible bond with my brother, Tom, and this unfortunate situation has brought them even closer, if that's possible," Dietmeyer said. "TJ's diagnosis of Menkes syndrome is devastating, but Darcy is taking a difficult situation and trying to make it positive. She is raising awareness to this disease with the hope that it can help another family or doctor diagnose the illness sooner."
Darcy said she leans a lot on family and faith to get her through the rough days.
"I do believe that we're doing this with God and God's leading us," she said.