"Children are the world's most valuable resource, and its best hope for the future," - John F. Kennedy
Thanks to newborn screening, Molly Raynor-Hanft has a healthy, happy daughter who will likely live a long, full life without any debilitating symptoms.
Madison Hill, 5, of Jamestown, was the sixth baby in New York state to receive a positive screen for Krabbe disease. Krabbe is globoid cell leukodystrophy, an inherited disorder that affects the central and peripheral nervous systems. Children who inherit the disorder lack an important enzyme called GALC that is needed for the production of normal white matter called myelin. Myelin is the protective covering of the nerve cells, and it is essential to normal bodily function. The disease is very rare, but if caught early it is treatable before irreversible consequences occur.
Pictured is Madison Hill, 5, of Jamestown, who was the sixth baby in New York state to receive a positive screen for Krabbe disease.
Madison, who as a result of newborn screening, was determined to be a carrier, and does not have the infantile form of the disease which is usually fatal, now has hope for a bright future. She and her mother can focus on spreading awareness of the disease, and the importance of newborn screening.
"Madison was born in September of 2006, and the screening began in August," said Raynor-Hanft, a 2003 Jamestown High School graduate. "In the longitudinal study Madison is one of the very first kids. So, (newborn screening) is important in that aspect."
By becoming the face and voice of the Hunter's Hope Foundation, an organization established in 1997 by Jim Kelly and his wife Jill after their infant son Hunter was diagnosed with Krabbe Leukodystrophy, Madison has encountered a lot of children who have the disease, and are now confined to a wheelchair. It has been determined by medical experts at Hunter James Kelly Research Institute that Madison will be ok from here on out, but there is still a risk or problems developing later in life, said Raynor-Hanft.
"When we first found out that she was a carrier we had to see the doctor once a month because they thought she could be developmentally disabled or not even live," she continued. "Eventually we moved to three months, then six months and finally to the yearly stage."
According to Raynor-Hanft, if a child screens positive for the disease then they can be given a bone marrow transplant to prevent symptoms. But, timing is very important, she said.
"The moment a symptom arises it is a downward spiral from there," said Raynor-Hanft. "That's why the screening is important, because you can prevent it before it's too late."
Madison, who is low risk, will likely never have to get the bone marrow transplant. However, as a carrier she will have to make sure that her children are screened for the disease.
In the meantime, Madison will be able to live a normal, healthy life. She will be going to the first grade at Lincoln Elementary School this year. She loves to sing. Some of her favorite artists include: Michael Jackson, Justin Bieber, Hannah Montana, Bruno Mars, Taylor Swift, Selena Gomez and Katy Perry.
"I like to sing, paint, go to the library to read and I'm in the book club," said Madison. "I have two younger sisters named Gracie and Hannah. I'm going to have a bunk bed that I'll share with Gracie, but I'll get to sleep on the top because I'm the oldest. When I grow up I want to be a singer."
Madison, who is the face of the "Every Step" walk scheduled for 9 a.m. on Saturday at Beaver Island State Park in Grand Island, was the third to ever be chosen as the face of the walk.
"For the most part nobody really knows anything about the disease," said Raynor-Hanft. "So, spreading the information is a really big deal for us. The walk is to raise awareness, and to try to raise money for the ongoing research. None of the proceeds will go to Madison, they will go directly to Hunters Hope Foundation. Madison and I have met many other children who unfortunately are on their way to passing away. But, that all could have been prevented had there been newborn screening. This event will raise money, awareness and give people hope."
"The kids were very sick and ill, and they need help," added Madison. "We will have the walk for sick people, so that they can feel better."
The "Every Step" event will feature a welcome ceremony, a casual 2-mile walk through Beaver Island State Park and other activities. Everyone who participates receives a free T-shirt. The registration fee of $10 acts as a donation.
Major sponsors for the event include the Credit Unions of WNY and Basil Ford.
For more information visit huntershope.org/everystepbuffalony.