Victoria and Zack Rasberry are asking for a miracle to save their youngest child, Ollie. Ollie and his older sister, Addy, both have metachromatic leukodystrophy (MLD), a rare disorder that is characterized by the destruction of myelin. Five-year-old Addy’s disease has progressed to the point where treatment is impossible, but gene therapy could help her three-month-old brother. The large problem that arises is the price; the Rasberry family has to raise $500,000 over the next month.
About Metachromatic Leukodystrophy
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.
The Rasberry’s Story
Until Addy was 15 months old, she was a silly, bubbly, talking girl going through normal development. It began with trouble walking; Addy fell a lot. Then, it quickly progressed until she could no longer eat, talk, or hold her head up; however, her cognitive functions remain untouched by the disease. A few months later, she was diagnosed with MLD.
Because they knew that Ollie was at a high risk for the rare disorder, they had him tested shortly after he was born. They knew that an early diagnosis results in the best outcomes, and they knew that they had to act fast.
Luckily, Ollie’s doctors organized with physicians in Italy, where a gene therapy for MLD has been approved for commercial use. The issue? The treatment costs $500,000, and it has to begin by the six-month-old mark. This means that the family has to raise the money over the next month.
Victoria and Zack have been working tirelessly to raise the funds, and they are overwhelmed and scared. If you want to donate to Ollie’s treatment, click here. To follow his story, click here.
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