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Wesley’s world
Couple forms the Menkes Foundation to increase awareness of rare syndrome that affected their son
Wednesday, April 4, 2007
 Click here to enlarge this photo Submitted Photo
Wesley Quinn Eckman, son of Jamie and Drew Eckman of Wildewood, at about 4 months old was displaying symptoms of a rare disease, Menkes syndrome. However, he would not be diagnosed until four months later.
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When Wesley Quinn Eckman was born Nov. 30, 2005, his birth seemed like the perfect, happy ending to a long, difficult period for Jamie and Drew Eckman of Wildewood. This happy ending, however, was deceptive. Another difficult period was just beginning.
Wesley was named for the college where Jamie and Drew Eckman met — West Virginia Weslyan. His second name, Quinn, was a nod to Brady Quinn, the quarterback for Notre Dame’s football team. Drew is a huge fan.
Wesley, with a head ringed with blonde fuzz, weighed 7 pounds and was 19 inches long at birth.
‘‘My pregnancy was perfect. His delivery was perfect,” said Jamie from her home last week. ‘‘Everything was just perfect.”
Wesley’s birth was an outcome nobody had expected. The Eckmans, who at that time were living in Florida, had tried for years to have a baby. Medical difficulties, including uterine cancer and the attendant chemotherapy, were thought to have made Jamie unable to conceive.
‘‘It’s just been a nightmare,” she said.
But in 2005, she discovered that she was pregnant. It was hard to believe.
‘‘We probably took like 20 pregnancy tests,” Jamie said, smiling at the memory. ‘‘He was truly a miracle baby.”
From the start, however, Wesley seemed to have problems. ‘‘I knew from the beginning” that something wasn’t right, Jamie said.
‘‘He had eating problems from day one. He had projectile vomiting,” she said. And there was more. ‘‘I can’t explain it, but his eyes were different. They were shaped differently. You saw more white than you saw the blue.”
Jamie, who is a nurse, kept pointing out problems to her pediatrician. ‘‘He was not meeting development [markers],” she said.
When she took Wesley in for his 4-month-old checkup, she expressed concern that Wesley didn’t have the kind of head control he should have at that age. ‘‘He couldn’t lift his head,” she said. ‘‘He was always like a rag doll.”
The pediatrician suggested special exercises, but mostly tried to calm Jamie’s worries. She remembers him saying ‘‘Jamie, You’re a nurse. I think you’re looking for something to be wrong.”
Concerns about Wesley weren’t the only stress in the Eckmans’ lives. Drew, a St. Mary’s County native and a 1993 graduate of St. Mary’s Ryken, had just taken a job at Smartronix in Lexington Park. So, he was traveling back and forth from Florida as he searched for a place for the family to move in St. Mary’s County. Jamie was left in Florida taking care of Wesley while she tried to sell two properties there.
Then, just a week after that 4-month-old check-up, Wesley’s condition worsened. He developed a fever. Ulcers appeared in his mouth.
The day after Easter, Jamie noted that Wesley had been unusually quiet and that his eyes were slightly twitching. ‘‘It was seizures,” she said.
He went by ambulance to All Children’s Hospital in St. Petersburg. And the search for a diagnosis was on in earnest.
They were at the hospital for 27 days. The doctors suspected an infectious disease and started Wesley on an anti-viral medicine. One of the doctors thought the problem might be genetic in nature. ‘‘They tested Wesley for 30 genetic tests,” Jamie said. ‘‘They all came back negative. They just could not pinpoint the genetic [disease].
‘‘It was just horrific.”
Finally they sent the Eckmans home, in the hope that the problem had been taken care of by the anti-viral medicines. Two weeks later, the seizures came back. The Eckman’s decided to take Wesley to Johns Hopkins in Baltimore.
‘‘But nobody could answer our questions,” Jamie said.
Then they tried Children’s National Medical Center in Washington, D.C. At this point, Wesley was about 7 months old and only weighed approximately 11 pounds. They kept him at the hospital for eight days. Jamie never left his side. People on the staff urged her to take a break, to go get something to eat or take a walk. But she refused. She remembers one aide said, ‘‘He’s not going to die if you leave him”
But Jamie thought differently. ‘‘I was not going to have Wesley for long. I just knew it.”
The night before Wesley was scheduled to be discharged, a geneticist, Dr. Cresson Turner, visited with Wesley and spent a couple of hours taking measurements and examining the baby.
He thought he knew the problem. It would be confirmed with a blood test. Wesley had Menkes syndrome, a disease that is characterized by a defect in how victims metabolize copper. One of the more noticeable symptoms of the disease is for hair to be coarse and twisted and the syndrome is sometimes called ‘‘kinky hair syndrome.”
Dr. Ken Rosenbaum, chief of genetics at Children’s National Medical Center, described the disease as an inherited defect of copper metabolism.
Most of the copper-dependent enzymes are necessary for normal development and for maintenance of blood vessels and other supporting tissues of the body, he said.
In addition to sparse and coarse hair, growth failure and deterioration of the nervous system, other symptoms of Menkes syndrome include weak muscle tone, sagging facial features, seizures, mental retardation and developmental delay.
The incidence of Menkes syndrome is estimated to be 1 in 100,000 individuals, according to the U.S. National Library of Medicine. ‘‘Although there is some variability in the Menkes syndrome, the majority of children with it have a progressive downhill course and often die in early childhood,” Rosenbaum said.
Menkes is generally a genetic disease that only affects boys. However, in about one-third of the cases, there is not a genetic component and the disease develops spontaneously. This was true in Wesley’s case. Jamie was tested and she is not a carrier.
‘‘They told us it was a terminal disease,” Jamie said of the doctors at Children’s National Hospital Center. ‘‘They advised us to go home with hospice.”
Wesley was 8 months old. The disease was actually causing his brain to shrink. They tried giving him copper injections near the end, but they were so painful for Wesley that the Eckmans decided to discontinue them.
Wesley died Nov. 15, 2006, just two weeks before his first birthday.
‘‘He took his last breath in my arms,” Jamie said.
Since their son’s death, the Eckmans have created the Menkes Foundation, a nonprofit that is designed to promote awareness of the disease. ‘‘It’s helping me to heal,” Jamie said of the project.
‘‘Our focus is to raise awareness so that our babies will be diagnosed correctly and in a more timely fashion so that treatments may be initiated earlier. Our son, Wesley, was treated for several illnesses in which he did not have, merely as a result of lack of awareness in signs and symptoms that is presented with Menkes disease,” the Eckman’s wrote in a statement.
‘‘Wesley taught us more about strength, perseverance and courage in his 11 months of life than we will ever learn in a lifetime, and he never spoke a word.”
E-mail Susan Craton at scraton@somdnews.com.
