Illinois baby celebrating first birthday after breakthrough treatment at Lurie Children's Hospital

A downstate baby is celebrating her first birthday after a breakthrough treatment at Ann and Robert H. Lurie Children's Hospital of Chicago.  

"We were told she wouldn't live past five months and here we are at a year and she's doing so good. She's thriving," said Angela Konczak.

Nearly five months after she was born, Brooklin Konczak was diagnosed with Spinal Muscular Atrophy Type 1.  

It's a degenerative disease that steals a child's ability to walk, talk, breathe and eventually live.  

In August, Brooklin was one of the first children in the nation to receive gene replacement therapy.  

"To me, it still seems like a miracle of science to do this," said Dr. Nancy Kuntz.

Brooklin was given a one-time IV treatment containing her missing gene.  

Over time, Brookin's body was able to regain muscle function that she had previously lost.  

Although not everything is restored.  

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Immediately after the treatment, Brooklin's parents noticed improvement.  

Months later, Brooklin is able to drink from a straw, swim in the bath tub, color with a crayon and sit up with assistance. 

"I'm very hopeful that she might walk someday," said Angela.  

Doctors are now testing the treatment Brooklin received, paired with one of two additional medications.  

"There's a lot of hope now that we have two, and even three forms of treatment," said Abigail Schwaed, an Assistant Professor of Neurology at Lurie. 

Right now, Brooklin's insurance provider has denied the request to pay for the additional treatment.  

The family has a Go Fund Me page to pay for Brookin's care.

They are fundraising for every day expenses, as well as a wheelchair accessible van.  

To complicate matters, Brooklin's father was recently diagnosed with renal cancer and has not been able to work.