HUNTERSVILLE – Huntersville resident Sheila Richardson continues to devote her life to her 8-year-old son Adrian who struggles with Prader-Willi Syndrome.

Adrian was diagnosed with the disease at two weeks at the Children’s Hospital in D.C. Richardson and her family moved to the area in September 2009. 

PWS is a rare disease that affects the entire body and characterized by a strong desire to constantly eat, which can lead to life-threatening obesity in children. Factors that cause PWS are genetic deficiencies and brain problems.

According to the PWS National Association, one in every 15,000 people suffers from the disease.

The disease works in three stages. Adrian has only experienced stages one and two.

Adrian specifically suffers from low muscle tone, sleep apnea, developmental delay and constant hunger. He also struggles with autism.

From 2008 to 2009, Adrian had trouble walking because of his low muscle tone. After physical therapy and training at a day center, he started thriving because he saw other kids walking.

“When he was age 7, he got to stage two. We noticed he was hiding food,” Richardson said. “If we go upstairs, he will see if there is food around the kitchen, but he doesn’t gorge. We have to lock our refrigerator and cabinet door.”

 

Coping with the disease

Richardson said at times she finds it challenging to help Adrian on a daily basis to deter him from food or manage his anxiety. She tries to change subjects or do something fun with him when he gets frustrated or yells.

“Adrian doesn’t know how to handle his impulses. He has a stress hormone deficiency,” she said. “I tried to get somebody to do kids Zumba for Adrian and kids in general. We focus on adults exercising, but we forget that if children learn to exercise, they will put that in their adulthood instead of waiting until they are overweight.”

She also said calming him down can be hard because he gets stuck on routines.

“It’s not personal. He has a lot of structure in his day, if we say we are going to do A, B and C, we better do it,” Richardson said. “The biggest stressors for us are making sure he is getting everything he needs.”

Adrian tends to have some meltdowns, especially in the summer when there is not as much structure like the school year. But Richardson also worries about the upcoming school year as Adrian’s principal will be on maternity leave.

“It’s a lot of change for him to deal with. He is having behavioral problems in school now,” she said. “I don’t know if he should be in a room with less people or have an aid. We are looking into other educational choices because of the struggles he is having.” 

Now that Adrian is taller, Richardson fears he could injure himself attempting to reach for food. Since his physical disability stems from his brain, Adrian has an inability to sense danger, something Richardson says is a part of both PWS and autism.

“I worry about what Adrian will do later as far as being productive,” Richardson said. “They want to grow up and have the things everybody has. But this isn’t something they grow out of. It’s a syndrome you grow more and more into.”

Stage three can occur as early as 2 years old when children and people break out of homes with a strong focus on food. They feel they are being deprived of food, which leads them to steal from grocery stores and restaurants. 

 

Finding a cure

Adrian sees an area doctor, but Richardson says the doctor isn’t specialized in the syndrome. In August, the Richardson family will take a trip to Florida to visit Dr. Jennifer Miller, a leading PWS endocrinologist.

“People come from different countries and the United States to see her,” Richardson said. “She knows of new studies and research. She has treated thousands and has done trials and errors to see what is successful and what is not.”

There are no known cures for PWS. Adrian is unable to take certain medications because of their side effects. Richardson said the FDA is looking to try new drugs and doing research for a cure for both PWS and obesity. Richardson said human growth hormone is what Adrian and others with the disease need.

“The growth hormone is good for them,” she said. “(Kids with PWS) have a low tolerance to medication and low muscle tone.  But it takes muscle to fight and the body doesn’t have the strength. The common cold can put my son in the hospital.”  

Richardson said giving a PWS victim a diet pill is useless because it doesn’t signal to the brain they are full.

“The signal they are full doesn’t go to their brain, so they are in constant starvation mode,” she said. “It’s like telling someone to stop breathing. It’s an impulse. It’s not a controlled behavior.”

 

Raising awareness

Richardson is actively involved in raising awareness of PWS. She is the secretary of the North and South Carolina Chapter of the National PWS Association. She plans for education, outreach, events and support for families.

“With a child of special needs, we need to reach out to those families. (Families) can do it (themselves) by sharing the information we put out there,” Richardson said. “We have 172 families, adults and children that we know of that are in our association in the Carolinas.”

On June 28, the Carolina’s chapter held a conference at the Lake Forest Church in Huntersville. Three guest speakers, including Dr. Miller, spoke about the medical side of PWS, education and advocacy. Time was set aside for families to connect and enjoy a luncheon.

To celebrate Adrian’s birthday on Oct. 18, the day before his real birthday, Richardson would like to host a PWS walk/race for her family and others in the area. She is searching for participants, donations, sponsors and a location. She has participated in two walks in the past, but this time she wants to host a walk in honor of Adrian to put a face on PWS. 

 

Supporting one’s family

Adrian has a brother named Addison and a half sister named Ashleigh. Addison says coping with his brother can be both aggravating and exciting.

“He thinks of cool ideas and sometimes uses them too much,” he said.

Both Addison and Adrian love to play the computer game Minecraft together, as well as watch Cartoon Network and ABC. Adrian takes one-on-one taekwondo lessons. After physical therapy, Richardson said he can do more than just hold one leg up; he can also kick at waist height.

Adrian also enjoys waiting on the mailman every day.  

“He likes to watch the mailman and trash trucks,” Richardson said. “The mailman meets him with a smile and kindness.”

Richardson said although Addison cannot always handle Adrian’s stress, he loves playing with his brother as they sleep together and hold each other’s arms.

Kids at school often ask Addison what’s wrong with his brother when he gets upset.

“It’s hard when Adrian is upset,” Addison said. “But he is very unique, and I like that because I never thought I would have a unique person in my life.”

Richardson wants others who battle PWS in the community to know that they are not alone.

“I am there for them. We (the association) are here for them,” Richardson said. “We are family.”

Want to learn more? For more information about the upcoming walk or Prader-Wili Syndrome, contact Sheila Richardson at pwsacsecretary@gmail.com or visit http://www.pwsausa.org/index.html.