The Noise Family Story
Olaf Noise - born July 25, 2013.
From Poland, Alicja Hałąs shares the story of her son, Olaf:
Olaf was born on July 25, 2013, the youngest of four children. From the very beginning, we noticed that something was wrong - his eyes were moving from side to side - nystagmus - and he wasn’t reaching milestones like his peers.
At the age of 8 months, Olaf had his first MRI identifying delayed myelination. From there, we endured a dozen or so stays in various hospitals and many tests. Finally, at the age of 8, Olaf received his diagnosis - PMLD (mutation in the GJC2 gene).
Currently, Olaf does not sit alone, does not walk, and he does not speak. He has had two surgeries on subluxated hips and has a lot of spasticity in his legs. He does not gain weight.
Despite adversities, Olaf is a very joyful child, he is always smiling. He loves going for walks and trips. Olaf is the apple of our eye. He is a ray of sunshine that illuminates each day.
We are waiting impatiently for someone to say there is a therapy that will help our son and other children with this disease.