Chloe was diagnosed with MLD when she was just over 2 years old. Despite stem cell transplantation, Chloe passed away after complications of the transplant and acceleration of the genetic mutation.
Chloe Sophia Barnes was born July 12, 2008 to Philip and Erica Barnes. She appeared happy and healthy, charming everyone with her mischievous grin and keeping her big sister Eva on her toes. Chloe was spontaneous and not afraid of anything, even big slobbery dogs.
But at 18 months Chloe was still struggling to walk and seemed to have unusual pain issues after naps and through the night. By 23 months, following assurances by their pediatrician that everything was fine, Philip and Erica were concerned enough to seek a second opinion. She received an MRI June of 2010 which indicated that her brain was slowly losing myelin, the fat that coats nerves and allows the brain to communicate with the rest of the body. After 2 months of an agonizing wait for a diagnosis, Chloe was diagnosed with Metachromatic leukodystrophy (MLD).
Metachromatic leukodystrophy (MLD) is a rare hereditary disease characterized by accumulation of fats called sulfatides. This causes the destruction of the protective fatty layer (myelin sheath) surrounding the nerves in both the central nervous system and the peripheral nervous system. There are three types of MLD based on the age symptoms appear: late-infantile MLD, juvenile MLD, and adult MLD. All subtypes ultimately affect both intellectual and motor function. Symptoms vary by type but can include difficulty talking, seizures, difficulty walking, personality changes, and behavior and personality changes. MLD is caused by changes (mutations) in the ASA gene (also known as ARSA) and, in rare cases, the PSAP gene.
Thanks to the heroic efforts of doctors and specialists, Chloe received a stem cell transplant at the Mayo Clinic in Rochester, MN on October 1, 2010. After fighting more bravely than someone ten times her age, Chloe died from complications of the transplant and an acceleration of MLD.
Find out more at Chloe’s Fight Rare Disease Foundation.
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