“Trust your instincts and go with your gut!” That’s the message Diane Hayes has for parents whose baby is sick and they aren’t sure if their doctor’s diagnosis is correct.
Ms. Hayes and her husband, George, of Weston experienced “a parent’s worst nightmare,” following the birth of their son Eric. Originally diagnosed in a hospital emergency room with an “ear infection,” it turned out Eric had something much worse.
From her baby’s spasms and seizure-like symptoms, Ms. Hayes’ gut told her that her son had something more severe than a simple ear infection. She decided to get a second opinion at another hospital, and there her baby was diagnosed with infantile spasms (IS), a medical syndrome that if not treated quickly carries a significant risk of mortality, morbidity, and mental retardation.
In 2009, the Hayeses, both in their early 40s, were surprised to learn that Ms. Hayes was pregnant. Mr. Hayes was a science teacher at Weston Middle School and the couple already had three young boys, but they looked forward to the new addition.
Ms. Hayes had an easy pregnancy with her fourth child, Eric, but the birth itself was difficult. While in labor, the baby’s umbilical cord prolapsed and fell out, temporarily taking away his oxygen. Ms. Hayes was rushed in for an emergency C-section, and immediately after his birth, the baby was brought to the intensive care unit since he had suffered for a short time without oxygen.
“He was a fighter from the beginning. He had a tube down his throat and pulled it out three times,” Ms. Hayes said.
An easygoing newborn with blond hair and big blue eyes, after that initial scare, Eric appeared to be developing normally.
Then one day, at seven months, he started crying inconsolably. Ms. Hayes thought he might be teething or getting sick, but then he made a strange movement, “an odd kind of shrug,” and his eyes glazed over. “My first reaction was he was having a seizure,” Ms. Hayes said.
Eric was rushed to the emergency room, where doctors told Ms. Hayes Eric had an ear infection. “That diagnosis did not sit well with me, but I took him home,” she said.
The next day Eric’s “shrugging” movements started again and his eyes continued to glaze over. “I took him to the pediatrician and then another hospital. I begged for an EEG brain test, and after eight hours we got a diagnosis of infantile spasms,” Ms. Hayes said.
Infantile Spasms, also known as West syndrome, is a rare disorder that develops in babies between three and nine months old and is marked by a specific abnormal brain pattern.
If not treated quickly, babies with IS suffer irreversible brain damage.
The American Epilepsy Society calls IS a “catastrophic childhood epilepsy” because of the difficulty in controlling seizures and its association with developmental problems and mental retardation.
Left untreated or treated too late, children with IS never learn how to walk or talk and can’t do anything. After Eric was diagnosed with IS, Ms. Hayes wondered if he would be able to function as a normal child.
Doctors prescribed a seven-week treatment for Eric using the drug ACTH (adrenocorticotropichormone), a steroid that needs to be injected daily and can have risky side effects.
Getting ACTH wasn’t easy because only one drug company makes it and it costs $25,000 a bottle, according to Ms. Hayes. “We needed five bottles for Eric and our insurance company didn’t want to cover it at first, but eventually they did,” she said.
During this time, Eric’s seizures came in clusters. He would throw up his hands and arch his back approximately 50 times in a 10-minute time span. But the ACTH worked and the seizures gradually went away.
As Eric was weaned from the drug, he got puffy and gained weight, had trouble sleeping, and started crying. “I think he had ’roid rage,” Ms. Hayes said.
Although ACTH worked for Eric, it does not work successfully for all babies diagnosed with IS. Those children and the ones who are not treated soon after their symptoms start suffer from severe mental retardation because of the damage done to their brains. “I talk with other parents on Facebook who have children with IS and many of them aren’t as lucky as we are. Early detection is the key. The longer the seizures go on, the longer the brain is being damaged. 90% of the babies diagnosed with IS never walk or talk,” Ms. Hayes said.
After Eric’s treatment, many of his motor skills had regressed. He couldn’t roll over or sit up, and he couldn’t talk. It took a lot of physical and speech therapy for those basic functions to return. But eventually they did.
This past March, on his third birthday, Eric was deemed well enough to attend the Early Learning Center program at Hurlbutt Elementary School. Now, as Eric runs around the house chasing his brothers Michael, James and Colin with a leaf he picked up outside, he looks and sounds like any other rambunctious three-year-old.
But, although Eric is done with treatment, he has a higher chance of having seizures in the future than the average person, so Ms. Hayes is always on the alert. “To see Eric now, you would never know he had something like IS. We’re lucky,” Ms. Hayes said.
In an effort to raise awareness of IS, Ms. Hayes is running in the New York City Marathon on Nov. 4, as part of the charitable team ETP (Epilepsy Therapy Project) NYC, organized by Dr. Orrin Devinsky and Dr. Judith Bluestein of New York University.
Although Ms. Hayes is 46, she is in great physical shape and has run half marathons in the past, as well as the annual Weston 5K road race, and the 10K race in Westport. But this will be her first full marathon, and she’s pumped.
She is happy to accept donations and sponsors for the marathon. All proceeds will go to ETP NYC. For more information about sponsoring Ms. Hayes, go to epilepsy.com/epilepsy/newsletter_jul_25_12, and scroll down to read more about her.