Celia’s Story: Giving Back After Metachromatic Leukodystrophy Treatment

Celia Grace, a metachromatic leukodystrophy (MLD) patient from Alabama, has recently made history in Minnesota – and she’s just five years old! Celia recently underwent an investigational gene therapy to treat her MLD, making her the first person in the country to do so. Now, she’s made her way back to Minnesota, but not for more treatment. While in town for a check-up, Celia surprised her doctor, Dr. Paul Orchard, with a visit and $140,000 in donations.

Celia’s Story

Celia Grace was born with MLD, a rare and progressive form of leukodsytrophy. There are currently no FDA-approved treatments to cure or reverse disease progression or available options, that is, until Dr. Orchard from Minnesota’s M Health Fairview Masonic Children’s Hospital helped Celia get FDA clearance for the investigational gene therapy.

In September, Celia and her family made their way from Alabama to Minnesota for the treatment. While the hard part is over, she’ll have to go to check-ups and remain under monitoring for at least 15 years. Her doctors hope that over the course of the next decade and a half, they’ll observe her living a happy, symptom-free life. Additionally, they’ll use any information gained from her case to apply to other patients undergoing gene therapy, whether they have MLD or a different condition, such as sickle cell anemia.

Now, back for one of her check-ups, Celia wanted to give back to Dr. Orchard. While in Minnesota, she presented him with a check for $140,000 to go towards his work in supporting and treating leukodystrophy patients. Three organizations came together to raise this money: the Cure MLD Foundation, Chloe’s Fight Rare Disease Foundation, and the Calliope Joy Foundation. Now, this money will go towards bettering the lives of more patients.

About MLD

Metachromatic leukodystrophy belongs to the larger group leukodystrophy. This group of disorders affects the central nervous system by causing issues with development or damage to the brain’s myelin sheath, the protective covering of the nerves. There are 52 types of these progressive disorders, and they are distinguished by the part of the myelin sheath they target. Metachromatic leukodystrophy is an autosomal recessive disorder, and it is characterized by the accumulation of sulfatides in the cells.

This accumulation causes destruction of white matter in the brain, spinal cord, and the connecting nerves to muscle and sensory cells of the periphery nervous system. This damage affects intellectual function and motor skills, such as the ability to walk. It also causes the loss of sensation in extremities, seizures, incontinence, paralysis, the loss of sight and sound, and the inability to speak. As the disease progresses, it causes people to become unresponsive, as they lose awareness of their surroundings.

It is caused by a mutation on the ARSA gene, which creates the instructions for making the enzyme arylsulfatase. This enzyme is responsible for breaking down sulfatides. Without arylsulfatase, sulfatides accumulate and cause damage to the central nervous system. There are no cures for this disorder, and the damage done cannot be reversed, making early diagnosis and treatment very important. Treatment options include medication to reduce symptoms and pain, stem cell transplants to slow progression, physical, occupational, and speech therapy, and nutritional assistance.

You can find the source article here.

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