October 16, 2010

The Roberts keep spreading the word

Hanover — Michael and Holly Roberts knew something was not right with their daughter’s health.

But after multiple doctors’ appointments, the questions and concerns the family had about Erin’s health remained unanswered.

Then when Erin was 16, after she had a seizure and was taken to the hospital, she was diagnosed with Niemann-Pick Type C—a rare and fatal developmental disorder.

After a number of years of doctors’ visits, lifestyle changes and many other challenges,Erin passed way on Dec. 1, 2004. She was just 24.

Today, Erin’s parents, along with her younger sister, Rebecca Jurgela, are working hard to make sure other families do not have to go through what they did. October marks Niemann-Pick awareness month, and this month the Roberts family is gathering information and sporting bracelets with ‘Persevere’ engraved in them to spread awareness about Niemann-Pick, a little known disease.

“Over the years it was all so frustrating not to know what kind of disease she had,” Holly Roberts said. “That’s why we do awareness. So that people can know about NPD and know the kinds of things that can be done.”

According to Michael, Niemann-Pick is a generative disease, and in order for a child to be born with it, both parents must have the trait. In Erin’s case, Michael and Holly both had the trait. However, the disease can affect some children and not others. Rebecca was tested, for example, but found not to be a carrier.

Though there is no cure, the disease can be detectedthrough prenatal testing, Rebecca said, and that’s what she did and hopes that other soon-to-be mothers will as well.

According to the websitewww.nnpdf.org,about 1,200 children around the world have been diagnosed with Niemann-Pick. The disease slowly takes over the functions of the liver, spleen and brain, leaving the child neurologically impaired. With that, the child’s memory slowly goes, as does the ability to walk and to eat, and it eventually takes over the organs in the body.

According to Michael Roberts, one of the symptoms of the disease is vertical gaze palsy, which is the inability to move one’s eyes up and down. Michael said that’s one of the things he always noticed about Erin. When she used to hold his hands and walk up his legs and flip over, Michael would notice that Erin’s eyes would go back into her head, but he said no doctor understood this symptom until much later down the road.
Michael explained that the disease first became recognizable in the United States when People Magazine did a story on the family of Ara Parseghian in 1995. Parseghian was a well-known former football coach at The University of Notre Dame, and in 1994 he learned that three of his four grandchildren were diagnosed with this rare disease.

And so Parseghian set out to spread information and awareness about the disease, to both doctors and parents. Though Parseghian’s grandchildren have since passed away, the Ara Parseghian Medical Research Foundation, based in Arizona, still continues to run fundraisers to find a cure for the disease.

“Parseghian was really the first one to break out and try to build awareness and raise money for the disease,” Michael said.

Today, the Roberts, who live in Hanover, are trying to spread awareness as well.

Holly serves on the board of directors for the National Niemann-Pick Disease Foundation, which raises money for research. The foundation also hosts an annual conference that provides support groups for the families who have been touched by the disease.

“It’s a place where families can speak openly about their child or their family,” Holly said, “and it serves as a kind of support group.”

Attending the conference can be a difficult experience for the Roberts family though.

“We relive it all over again when we go,” said Michael. “You see kids one year and they’re functional and talking, and then the next year they are in a wheelchair and it just tears your heart out.”

At the event last year, Rebecca gave a talk on what it was like to be the younger sibling of a family member who has the disease.

“I talked about what it’s like for the undiagnosed, and since it turned out to be mostly parents, I just told them that each child growing up needs the same amount of attention as another,” Rebecca said. “I tried to stress to them how I felt so that they would be able to prevent that in their families.”

This year Rebecca’s cousin Ryan is hosting an on-line auction throughout October. The auction includes goodies and baskets that organizations have donated for the cause, and visitors can go online and bid to win one of the prizes.

The website can be reached via the www.nnpdf.org site.

“All of the money raised will go towards research for NPD,” Rebecca said of the auction.

The Roberts family has been trying to spread awareness in other ways as well.

Since June of 2004, the Hanover Chamber of Commerce has hosted a road race in Hanover, where all the proceeds from the event go to research the disease

“We have been raising awareness since we found out about it,” Michael said.

She was one family’s ‘angel from Heaven’

Asked to share their memories of Erin, her parents and sister had trouble finding where to begin.

“I look back and think our miracle was Erin,” Michael said. “There wasn’t a life she touched that was affected by her.”

While in the second grade, Erin Roberts transferred from Holy Family Elementary School in Rockland to the Hanover Public Schools, to receive special care. In the ninth grade she transferred again, to the Cardinal Cushing Centers.

Michael recalled Erin holding the hand of a girl who shared her room in the hospital, and calling her, her friend. He said there was a boy in school who was blind and Erin would hold his hand when he crossed the street.

“She just had an awesome spirit about her,” Michael said.

Michael said they would ask Erin how she was doing on a particular day and she would always say ‘I’m awesome.’

“Every individual is a gift, but she had a special part that carried her all the way to the end,” said Michael.

But though they said they adored every minute they spent with her, they did begin to notice little things that worried them.

She might not, for example, remember what she’d had for lunch. She might not be able to walk straight.

Erin’s parents took her to a number of doctors, and they left with some not so helpful advice.

Michael said one doctor diagnosed Erin with Lafora disease, and told them not to tell anyone because schools would not likely admit her if they learned she had the disease.

“So with that diagnosis we were left with the idea that we have to walk this path alone,” Michael said.

Another doctor told the family to take Erin home and get her comfortable and wait for her to die, Michael added.

He added that another doctor told them to try tutoring her, and to call him back in a month to see how she was progressing.

When Erin was 16 she had a seizure. Soon after, she was diagnosed with Niemann-Pick.

In the weeks and months before her death, Erin lost a number of abilities, including the ability to eat on her
own and walk on her own. There were certain things she was able to remember and hold on to, though, her sister recalled.

“She never forgot who we were,” said Rebecca, adding that she also remembered lyrics to songs and certain prayers.

Written on her tombstone in the Hanover cemetery are the words ‘Heaven is a wonderful place” because the Roberts family said they used to tell Erin she was an angel from Heaven. When they told her this she would sing a song from church ‘Heaven is a Wonderful Place,’ which she always remembered.

‘Heaven is a wonderful place, filled with glory and grace. I want to see my savior’s face, heaven is a wonderful place.’

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