The disease and the VPS13D
How it works…
We now know that the VPS13D gene that is mutated is responsible for a series of progressive, irreversible neurodegenerative disorders which condemn the sufferers to a downward spiral of handicapping motor function loss.
For 7 years we didn´t even know what was causing the disease. In February of 2018 the door of hope was opened for the undiagnosed sufferers of VPS13D mutations. Now that the cause was found we can finally find a treatment.
In Chloe we know she suffers from muscle pain, especially in her back, hips and legs as well as daily muscle cramps. She has difficulty walking, talking and swallowing which has put her life in risk many times. During years Chloe suffered from horrible night terrors that have recently subsided. Also her disease has caused a visual perceptive learning disorder that affects her schooling and although her intelligence is unaffected she is behind in school.
The progresssive nature of the disease increasingly deteriorates her nervous and muscular function. Her mobility, stability, speech and swallowing are all affected. In some cases there is cognitive damage. The metabolic error translates into poor production of energy for sufferers and they are generally extremely tired and limited day to day.
The VPS13D gene leads to damage of the mitocondria, the energy producing element of the cells, simply put its as if her nervous system is slowly starving causing the wasting away of her nervous and muscular systems. This leads to atrophy and loss of function in her hands, arms, legs and mouth and the damage is irreversible. We must stop the deterioration, the TIME is really important for Chloe’s life.