Urbandale, Iowa mayor declares Sept. 18th PTHS Day
Special day to shed light on Urbandale boy’s rare syndrome
Only about 250 people have the Pitt Hopkins genetic disorder.
DesMoines Register.com
A rare genetic disorder affecting Urbandale 4-year-old Nolen Parkin will be a little less unknown in the minds of the public come Wednesday.
Mayor Bob Andeweg signed a proclamation declaring that day as Pitt Hopkins Syndrome Day, in conjunction with the first international awareness day for a disease that affects only about 250 people worldwide.
Sept. 18 was chosen because the problems associated with Pitt Hopkins, such as severe intellectual disabilities and diminished capacities for speech and mobility, are due to abnormalities within chromosome 18.
A hearty band of parents from around the globe made a habit of seeking out attention in order to help their loved ones. Pitt Hopkins is so rare that little attention has been directed toward it in the form of government initiatives or major pharmaceutical research, said Kelly Parkin, Nolen’s mother. As a result, any kind of assistance in doing combat with the disease is a big deal.
“We emailed the mayor for help and within 10 minutes he got back to us,” she said. “I was impressed.”
Kelly Parkin and her web of worldwide friends have raised roughly $500,000 in less than two years to assist with research. She is encouraged by recent scientific developments in mice that have seen the symptoms of other genetic abnormalities reversed.
Nolen was only officially diagnosed with Pitt Hopkins last spring, but he began showing signs of developmental problems when he was about five months old.
Today he attends an integrated 3-year-old preschool program in the Waukee school district that provides him with physical, speech and occupational therapy, all of which is augmented by work done with a private therapist.
Nolen wears a smile through it all, which provides the spring in mama’s step on most days.
“He’s just such a happy kid,” Kelly Parkin said. “He’s sweet and cute, so you just move forward and go do it. You can’t not do it.”
Parkin recalled comments from another mother whose child has Pitt Hopkins: “We can choose to be bitter or better, and we choose better.”
To learn more about Pitt Hopkins Syndrome, go to www.pitthopkins.org. Donations also may be made on the Facebook page JustSayNolen.
Mayor’s Proclamation Raises Awareness of 4-Year-Old Urbandale Boy’s Disease
Urbandale Patch.com
Sept. 18 is Pitt Hopkins Syndrome Day. The rare disease affects only about 250 people worldwide, including Nolen Parkin of Urbandale.
Sept.18 is Pitt Hopkins Syndrome Day in Urbandale under a proclamation signed by Mayor Bob Andeweg to raise awareness of the rare genetic disease affecting 4-year-old Nolen Parkin.
Pitt Hopkins syndrome, which affects only about 250 people worldwide, is characterized by intellectual disability and developmental delay which range from moderate to severe, breathing problems, recurrent seizures (epilepsy), and distinctive facial features, according to the National Institutes for Health.
Pitt Hopkins Syndrome Day is being observed internationally for the first time this year.
Nolen’s mom, Kelly, emailed Andeweg about the observance “and within 10 minutes, he got back to us,” the Des Moines Register reports. “I was impressed.”
Nolen and his fraternal twin brother were born in 2009. When he was about 5 months old, the discrepancy in the twins’ development could no longer be ignored, according to the “Just Say Nolen” page on Facebook.
The first pediatrician the family consulted was dismissive, but by the time Nolen was 1, he still needed support to sit and was not babbling as children his age usually did. His parents switched pediatricians, who referred them to a geneticist, but it still took more than two years for a diagnosis about a year ago.
Despite the developmental delays, children with Pitt Hopkins “are known for their happy demeanors,” according to the Facebook page, “and Nolen is no exception.”
His parents said the international support group, which raised about $500,000 in about two years, has given them hope.
Kelly Parkin told The Register she and other parents are encouraged by recent research in which the symptoms and other genetic abnormalities have been reversed, and they’ve raised a half-million dollars in less than two years to help find a cure for Pitt Hopkins.
Because Pitt Hopkins is so rare, little attention has been given to it by the federal government and pharmaceutical companies, she said.
At least one other Iowa youth, 8-year-old Ian Fletcher of Bedford, has been diagnosed with Pitt Hopkins Syndrome.
ACTION: “Like” the “Just Say Nolen” page on Facebook. | To donate to help find a cure, go to pitthopkins.org.
Urbandale four-year-old’s disease highlighted on Sept. 18
www.Demoinesregister.com
Urbandale four-year-old’s disease highlighted on Sept. 18 | Des Moines Register Staff Blogs
A rare genetic disorder affecting Urbandale four-year-old Nolen Parkin will be a little less rare in the minds of the public come Sept. 18.
Mayor Bob Andeweg signed a proclamation declaring that day as Pitt Hopkins Syndrome Day, in conjunction with the first annual international awareness day for a disease that only impacts about 250 people worldwide.
“We emailed the mayor for help and within 10 minutes he got back to us,” said Nolen’s mom, Kelly. “I was impressed.”
A hearty band of parents daily send emails to one another across the globe in order to collectively combat Pitt Hopkins, which deals a blow to intellectual and speech capacity as well as the ability to walk. The parents are encouraged by recent scientific developments in mice that have seen the symptoms of other genetic abnormalities reversed, and they have raised roughly $500,000 in less than two years to help find a cure for their loved ones.
Pitt Hopkins is so rare that little attention has been directed at it up to now from government or major pharmaceutical companies, according to Kelly Parkin.
“We are really encouraged by where the research could go,” Kelly said.
Learn more about Pitt Hopkins Syndrome at www.pitthopkins.org.
