Editor’s note: This Mother’s Day, we honor mothers who face challenges and trials while sharing unconditional love with their children. Joy Ludwig, 34, of Kingfisher, is an example of a devoted mother with a parenting challenge unlike most: Her son Jener suffers from a rare genetic disease that one day will lead to chronic hunger. Today, Joy tells her story. To Joy and all mothers, we say Happy Mother’s Day.
Jener Ludwig was born practically lifeless. He was limp, his eyes closed. He didn’t cry and had no appetite.
He was a bit small — 6 pounds, 9 ounces. And when he was placed in his mother’s arms, Joy Ludwig knew something wasn’t quite right. “He looked like a dead baby.”
Later in life, however, it’s almost a guarantee the child will seem quite different — behaviorally challenged, forever cognitively impaired and suffering from an insatiable appetite.
Such is the cycle of Prader-Willi Syndrome or PWS, a rare genetic disease Jener was born with. About one in 20,000 babies have it.
These babies barely have the energy to hang on to life. The disease made Jener so weak at birth, he couldn’t suck from a bottle. He had to be fed through a tube and hooked to heart rate and oxygen monitors for the first months of his life.
He went home after 24 days in the neonatal ICU at Baptist Medical Center, still attached to his lifesaving equipment, completely dependent on his parents, who had been trained to insert feeding tubes and monitor his heart and oxygen.
Not until he was about 4 months old did Joy Ludwig hear her son cry like a typical newborn.
But she cried. She said she suffered from extreme anxiety when her husband, Julian, had to go back to work after six weeks’ paternity leave.
She was overwhelmed by the prospect of taking care of her desperately needy baby while also parenting their 2-year-old son Jensen.
She made it through those first hard times by taking action. She networked on Facebook with other parents of children with Prader-Willi Syndrome and even organized a fundraiser last fall.
This year, she will spearhead the One Small Step walk and run Sept. 27 in Kingfisher. You can donate or sign up at onesmallstep.fpwr.org. Select Joy Ludwig to donate to her campaign.
A devastating disease
Cognitively, Jener may or may not be on par with his peers, but experts say it’s possible he can be, with vigilance. The average IQ for kids with Prader-Willi Syndrome is about 70, according to pwsausa.org.
If the disease isn’t stopped or a drug isn’t found to regulate it, Jener will want to eat constantly when he grows older. PWS affects hormones that regulate appetite, and kids with the disease feel as if they are starving to death.
In fact, Prader-Willi Syndrome is the No. 1 genetic cause of childhood obesity in America, said Dr. Jennifer Miller, a pediatric endocrinologist and associate professor of endocrinology at the University of Florida. One of the nation’s leaders in treating PWS, she sees about 450 kids each year with the disease from across the country at her practice in Gainesville, Fla.
Miller has treated Jener since he was strong enough to be taken to Florida to see her.
As of now, there is no treatment for the hunger. To complicate matters, kids with PWS have such low metabolism, their diet must be restricted to very low calorie counts, Miller said.
“I mean, they’ll eat everything: pet food, garbage, raw food, anything. You name it, they’ve eaten it,” Miller said. “It’s the main impediment to their living independent lives, because they simply can’t control themselves.”
But that’s in the future for Jener. First he’ll go through the early stages of PWS, fighting his weak body and gaining cognitive skills a little slower than other children. Then, he’ll likely have behavioral problems. He also faces surgery necessary to correct incomplete formation of his sex organs due to PWS.
But he has a mother who is so devoted to caring for her son’s special needs that she sold her salon of eight years to be with her children. She is soldiering through the trials for the good of Jener and Jensen, though it’s been tough.
“Yes, it’s hard when I see the other kids that are his age running around everywhere,” said Ludwig, 34, of Kingfisher. “I know he’ll get there. I know that now.”
She dreads the day the hunger sets in.
the same mother
At 21 months, it’s hard to tell the happy, handsome, blond-haired, blue-eyed child has a genetic disease. There are typical physical traits — a pronounced forehead and small, slim hands and feet — but nothing very obvious.
Maybe it’s his platinum Mohawk or his tiny round glasses, but people are magnetized by the toddler, his mom said.
“As hard as everything is for him … I guess he doesn’t know any different, but he’s just the happiest baby,” Ludwig said.
Her first son, Jensen, now 4, is equally handsome, with the same fair traits as his baby brother and both parents. But there is a genetic difference between the two boys that sets them apart.
Jener is missing part of the 15th chromosome, a condition called Prader-Willi Syndrome by deletion, the most common form of PWS.
PWS is present in about one in 20,000 births and is a random occurrence, Miller said. A maternally passed version of the disease can be more common in older women who become pregnant, but usually PWS occurs for no apparent reason.
A new day for treatment
Whereas PWS at one time was considered untreatable and doctors said kids with the disease might never walk or talk or lead anything like a typical life, Miller said the opposite is true for kids with PWS these days.
“For the younger generation, like Jener, we’re making the diagnosis really early and we’re able to start treatment earlier and have better results,” Miller said.
Through constant vigilance from his mother and father, Jener has already made advances some wouldn’t expect — he is taking baby steps, for the first time toddling his way across the living room from his mother to his brother. He knows some sign language and is making advances in communication and motor skills.
“His speech is a little more delayed than some others, but overall, his mom’s done such a great job with his diet and with keeping him active,” Miller said. “He looks fantastic. Metabolically, he’s fantastic.”
Miller estimates she treats about 10 percent of the kids in America with PWS. She uses more aggressive treatment techniques than some specialists, she said, because she’s seen so much evidence that they work.
She advises that babies with PWS be started on human growth hormone at a very early in age, while more conservative doctors usually wait until the child is 6 months or older. The growth hormones help develop muscle mass.
“We’ve looked at our data because we follow so many patients, and the kids that start growth hormone before a year do so (much) better in so many ways,” she said.
Miller advises the use of supplements to help keep the drowsy, lethargic baby with PWS alert and functioning cognitively, though she admits there is no research to support such a claim. She said parents can try appropriate dosages of supplements such as CoQ10, B12 and Carnitine, and if there is no improvement, discontinue.
“They get into the mitochondria and produce ATP, which is energy. So we believe that there’s a reason why they would work,” Miller said of the supplements. “We don’t know for sure that they work, and we certainly don’t know that they work in everybody. “
Drug trials are underway for the appetite problem, Miller said. As parents like Joy Ludwig raise awareness and research money, scientists are working behind the scenes.
“Right now, with this younger generation like Jener, the appetite is pretty much the thing that’s holding them back from independence. So if we can find a cure for that, then the future is brighter. Much brighter.”