Horizon West family fundraising for medical trial for son with Prader-Willi Syndrome

By Amy Quesinberry
| 8:32 a.m. August 6, 2015

West Orange Times & Observer
News

HORIZON WEST — The Pudneys consider themselves lucky.

Sean and Catt Pudney had one son, Greyson, and were expecting their second in late 2013 while living in California. Paxton was born five weeks early and “floppy,” his mother said, so he spent time in the NICU. A few days after his birth, they noticed the words “muscular dystrophy” scrawled on a piece of paper lying next to their son’s incubator, although no one at the hospital talked to them about it.

For nine days, the couple, now Horizon West residents, thought their son had a degenerative disease that could eventually take away his ability to walk.

After one-and-one-half weeks, Pax’s diagnosis was changed to Prader-Willi Syndrome, a non-hereditary spectrum disorder that lists dozens of symptoms but is most commonly known for low muscle tone and insatiable hunger.

For the first five weeks of Pax’s life, he was fed through a nasogastric tube; his muscle tone was so weak that he had no sucking ability. He was placed on oxygen at night for sleep apnea for the first year of his life.

The Pudneys were overwhelmed initially but found comfort in a closed group on Facebook that unites families dealing with the same issues. This is also where they discovered Dr. Jennifer Miller, a pediatric endocrinologist at UF Health Shands Hospital in Gainesville. She is the reason Sean Pudney sought a job in Orlando and the family moved across the country to get help for their infant son.

Catt Pudney said Dr. Miller was the only one out of all the doctors they spoke to who agreed to prescribe daily growth hormone injections for Pax to get his body moving earlier. In California, doctors won’t even consider giving this to children with PWS until they are 12 to 18 months old, she said.

So when their baby was 14 weeks old, Sean and Catt began administering a shot into his arm, thigh or buttocks every night. This will continue for the rest of his life.

These regular doses of Norditropin have made a difference with Pax, his parents said. Just one week after he started receiving them, he lifted his head for the first time.

“If your child has PWS, (Dr. Miller) is the person in the U.S. you want to get into,” Catt Pudney said.

That growth hormone therapy isn’t the only medicine the little boy must take. He is on Prilosec for acid reflux, Norditropin to thwart hunger, two medicines to help burn fat because of a low metabolism, a probiotic for his digestive system, MCT oil to help with speech and fish oil for brain development.

PHASE BY PHASE

There are three phases of PWS. The first is “failure to thrive.” Pax has entered the second phase, which means his metabolism has slowed down, his mother said. Although he is in the 25th percentile for weight, he has gained two pounds in two months.

This could be a sign that he is getting closer to phase three, hyperphagia, which usually begins at about age 2 and is “where he can’t get enough to eat,” Catt Pudney said.

Sean Pudney said it’s hard not to “think about the horror stories of people eating themselves to death.”

They have Pax on a strict food regimen, and candy is at the top of the “do not feed” list. He eats vegetables (his favorite is avocado), cottage cheese, chicken and a lot of fish (talapia and halibut). He is soon making the transition from whole milk to almond milk.

Pax must consume 60% fewer calories than the average person because of the obesity risk.

FUNDRAISER

“The best we can hope for is a drug that can alleviate these symptoms,” Catt Pudney wrote on her FirstGiving fundraising page. “Oxytocin is the only drug thus far with great success in treating the symptoms of hunger and behavioral issues that manifest due to the disorder itself. The Oxytocin trial during phase one showed extremely promising results in improving the lives of those affected by PWS by relieving these issues.”

The Pudneys are trying to help Dr. Miller and the Prader-Willi Syndrome Association (USA) raise $1 million for the next phase of the trial.

Catt Pudney said the first phase determined that Oxytocin does improve muscle tone and keep hunger at bay. Phase two will study dosage.

“They want to go through community funding, because if they get a grant, it would take longer,” she said. “If we raise $1 million, they can start in January, which is what they would like to do.”

So far, the family has raised about $1,000. To make a donation, visit firstgiving.com/fundraiser/PaxtonPudney/oxytocin-study. The PWSAUSA executive committee is offering a matching gift, and all donations made through Aug. 30 will be doubled.

PAX ON TRACK

Pax started music therapy last week and is scheduled to begin horseback-riding hippotherapy. He will take classes twice a week at UCP of Central Florida’s Winter Garden campus with additional speech, occupational and physical therapy sessions.

Physically, Pax is doing well right now, his parents said, and he is reaching his milestones more quickly because of the injections.

He is gaining strength, he is adapting to the braces he just got to support his legs and create a normal gait, and he can really cruise across the floor with the aid of his walker. He is babbling more and starting to form words. He is learning sign language to communicate with his family.

Having an older brother has helped with his movement, Catt Pudney said.

As Pax gets closer to turning 2 in October, his parents have one goal in mind — “for him to walk on his birthday.”

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WHAT IS PRADER-WILLI SYNDROME?

Prader-Willi (prä-der-vile) is a complex genetic disorder that is caused by a lack of several genes on one of two chromosome 15s. It typically causes low muscle tone, short stature, incomplete sexual development, cognitive disabilities, problem behaviors and a chronic feeling of hunger, according to the Prader-Willi Syndrome Association.

People with PWS are prone to obesity because they have a flaw in the hypothalamus part of their brain, which normally registers feelings of hunger and satiety. Thus, they never feel full and have a continuous urge to eat that they cannot learn to control, according to pwsausa.org. This can lead to excessive eating and life-threatening obesity.

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