There are more than 7,000 rare diseases that impact 300-million people worldwide. We are re-visiting three Illinois families who have children with unique diagnoses, who are forging ahead with hope. FOX 32 first covered their stories last year.
Courtesy Angela Konczak
A Peoria baby will see her first Christmas after her life was saved by an innovative new medical treatment.
Brooklin Konczak was born on March 18, 2020. She has Spinal Muscular Atrophy Type 1. The Cleveland Clinic says the disease is usually apparent at birth, and almost always results in death by age 2.
Brooklin was diagnosed with SMA in August. After first seeking treatment at the Children s Hospital of Illinois in Peoria, Brooklin s family took her to Lurie s Children s Hospital in Chicago for care. They had told me they didn t think she was going to make it. We thought we were going to lose her, said Angela Konczak, Brooklin s mother. They petitioned our insurance for a revolutionary new treatment. It s a brand new treatment called Zolgensma. It s called gene replacement therapy. And what it does is it works to replace the genes that are missing. And it basically stops the progression of her disease.
8-month-old baby one of the first to receive a revolutionary new treatment at Lurie Children s Hospital
8-month-old baby one of the first to receive a revolutionary new treatment at Lurie Children’s Hospital
A downstate baby will celebrate her first Christmas thanks to a revolutionary new treatment performed at Ann and Robert H. Lurie Children s Hospital in Chicago.
CHICAGO - A downstate baby will celebrate her first Christmas thanks to a revolutionary new treatment performed at Ann and Robert H. Lurie Children s Hospital in Chicago. To me, it still seems like a miracle of science to do this, said Lurie Children s Dr. Nancy Kuntz.