Family diagnosed with rare disease works to raise awareness
HOUSTON – Frani Broussard Denenburg said it was devastating to learn that she and five other family members -- including her mother, two brothers, and her two children -- had all been diagnosed with ALD -- a rare genetic disease that can be fatal.
"It's a disease that sometimes feels like a ticking time bomb because we are constantly watching, monitoring for symptoms," Denenburg said.
Adrenoleukodystrophy is not a well-known disease. The 1992 movie "Lorenzo's Oil," starring Susan Sarandon and Nick Nolte, depicts the real-life struggle of a family pushing to find a cure for their son who was diagnosed with ALD.
Denenberg's mother, Marian, was the first in their family to experience symptoms nearly 30 years ago.
"Neuropathy in her lower limbs, some stiffness in her lower limbs and her muscles," Denenberg said, while recalling her mother's symptoms. "She was losing her balance."
A diagnosis in the summer of 2018 finally determined the cause was ALD. The other family members were tested, and since then, they have been on a mission.
Denenberg testified at the state legislature in February about the impact of ALD. They also created a foundation to raise awareness and now are making preparations to hold their first fundraiser for ALD research next month.
"We want to defeat it because the disease, it can be fatal," said Denenberg. "And there is no real need for that to be the case."
The family's foundation is called Arrivederci ALD.
For their first fundraising event, they have exceeded their goal of $150,000 from ticket sales and donations.
The money will go to two researchers, Dr. Florian Eichler at Massachusetts General Hospital and Dr. Keith Van Haren of Stanford University who have both dedicated themselves to finding a cure for ALD.
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