'Rare Disease Day': Illinois children who have unique diagnoses still thriving
CHICAGO - February 28 is "Rare Disease Day."
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.
Brooklin Konczak will celebrate her second birthday in March, a significant milestone for a baby who wasn’t expected to live five months. She was one of the first children in the nation to receive gene replacement therapy for the rare disease Spinal Muscular Atrophy Type 1.
"It's really amazing what they're doing with science right now," said Brooklin’s mom, Angela.
Since we last visited Brooklin a year ago, she has qualified for a brand-new medication and is hoping to get signed up for a third. They are working to save her from a disease that typically steals a child’s ability to walk, talk and even breathe.
"She talks a lot now," Angela said, as Brooklin chatted in the background. "Her vocabulary has widened. Also if you're noticing her grabbing my hair, her range of motion with her hands has gotten so much better."
In Joliet, 15-year-old Elizabeth Reyes is back at school.
"She is the strongest she's been since being diagnosed. She is doing fabulous," said her mom, Stacey.
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Last May, Elizabeth received a kidney transplant after being diagnosed with a rare kidney condition called Nephronopthisis that typically strikes teens. Once symptoms appear, children are already in end stage kidney disease.
"As far as the future, transplant is not a cure, so anytime, anything can change. We just hope that every day is good for her," said Stacey.
In Kankakee County, the Beedle family continues to battle Batten disease.
"We celebrated the girls' one-year treatment anniversary, so that's one year of infusions for both girls and we're very grateful," said Amanda Beedle, the girls' mom.
At 5-years-old, Annabelle was diagnosed with CLN2, a form of Batten disease, which is a rare genetic nervous system disorder. Her sister, one-year-old Abigail, who hadn’t yet exhibited symptoms was also tested and has it too.
"Annabelle is still walking. We're very encouraged by the amount of language she has maintained. She can pick out her tutu every day. And we know without these infusions life would be changing very drastically for us for the worst," said Amanda.
The sisters are receiving twice-monthly brain infusions to slow the progression of the illness. Life expectancy without treatment is late teens.
"We also look ahead with hope for further developments, not only for CLN2 but all forms of rare disease," said Amanda.
All the children are being treated a Lurie Children’s Hospital in Chicago.
Brooklin’s family is fundraising for a specialized wheelchair that insurance will not cover, to give her independence. They are also in need of a wheelchair accessible vehicle and a day nurse. To learn more or donate, visit HERE.
For more information about Elizabeth Reyes, visit HERE.
Friends of the Beedle family are also raising money on their behalf for the expenses medical insurance will not cover. Learn more HERE.