Prader-Willi Syndrome defined

Prader-Willi Syndrome (PWS) was discovered by two doctors, Andrea Prader and Heinrich Willi, in the 1950s.

Kathy Clark, a nurse practitioner and coordinator of medical affairs for the Prader-Willi Syndrome Association, says the disorder is caused by abnormal chromosomes. In the case of people with PWS, the tiniest mistake in the chromosome can mean a drastic change for the individual. Chromosome 15 is to blame.

“It is important to have the father’s chromosome 15 region,” Clark says. “If it’s not available, then it renders the individual missing some very important information. It’s not that the father gave the child a bad chromosome — it’s that the region somehow went awry at the time of conception.”

At the moment of conception, the chromosomes link up. Each female chromosome links with the correlating male chromosome — one by one — until all 23 chromosomes have found their partner. In Sophie’s case, however, her father’s side of chromosome 15 missed its place in the lineup.

“They described it as a pause,” Waylon says. “There was a pause for just a brief moment, and it missed a portion of (my wife’s) chromosome.”

When a baby with PWS is born — often earlier than the standard 40 weeks — the child is very limp and exhausted. In fact, one of the hallmark characteristics is low muscle tone. When babies have small muscles and thereby trouble sucking, it makes feeding almost impossible.

“They just lie there. They look like they’re melted into the bed they’re so limp,” Clark says. “If you don’t wake up, you don’t learn and your brain doesn’t develop.”

Not only are most of these babies tube-fed, the drive to learn more is also delayed. Parents have to mimic almost all milestones, even something as simple as lifting the head. Most infants with PWS can’t sit up or roll over until they’re almost 1, far behind average children the same age.

Another characteristic of PWS patients is strange behavior which presents itself in three potential phases.

In phase one — known as hypophagia — the desire to eat does not exist, and usually lasts until the child is 2 years old. During phase two, a healthy appetite appears and children begin to seek food. Phase three is the most well-known. In this phase — known as hyperphagia — the individual is constantly hungry and never feels satisfied. In some reported cases, individuals will choke because of how quickly they consume food.

“Parents can’t have a bowl of apples on the counter,” Clark says. “They can’t even have a refrigerator that is unlocked. Everything has to be under lock and key. The kids can’t help it. They literally feel like they are starving. And if they know they can get food, their behavior becomes worse.”

Sophie is currently in the hypophagia phase of PWS. She doesn’t fuss when she is hungry and eats on a schedule. She still consumes a few bottles every day, but has progressed to eating food that an average child her age would eat.

Hungry for a cure

Currently, there is no cure for PWS, but early intervention can help ensure these children grow up to lead normal lives. A synthetic human growth hormone (HGH), used for pituitary replacement, can make a significant difference in muscle strength and growth.

In fact, it’s becoming the standard in caring for these patients, starting at just a few days old. However, giving the child HGH doesn’t fix the chromosome entirely, but rather aids the gene in what it isn’t doing correctly.

As for Sophie, the future is looking bright. Soon the family will be doctoring closer to home … in Fargo. But the journey is still an uphill battle.

“Besides her being weak, I couldn’t tell the difference between her and another baby,” Waylon says. “The only thing she is lacking is her strength right now. She isn’t crawling or walking, but she can roll like nobody’s business. That’s how she gets around.”

Sophie’s parents know they will need to create a life for her that includes plenty of activity and a strict diet to make sure she can live the best life possible.

“She is pretty close to all of her milestones,” Steph says. “It’s nice to know things get better. As things get better on this end, then it’s the hunger (phase). We just have to be prepared.”

Seeking support

A good support system, like the Prader-Willi Syndrome Association, can mean a world of difference to young parents whose child has the disease.

Social media also offers a great deal of support to parents. Facebook groups create a community for parents of children with this condition, encouraging them to ask questions, share their children’s progress and provide coping mechanisms. Facebook recipe pages and therapy toy exchanges also take place within these groups.

“If you have questions, there are people who can answer you in 30 seconds,” Steph says. “It’s all on Facebook. You can call people even. And every Friday they have a proud moment of the week for parents to share things their child has done.”

Fostering a sense of community on social media has connected parents, reminding them they’re not alone in this long journey.