The story of Rachel
Our son was born perfect and healthy 3 years ago. He walked late but met all other milestones. We noticed that he was very clumsy and had hand tremors. He would also spike periodic high fevers that left him unable to walk or hold a cup to drink. After being referred to a neurologist and many normal blood tests, the doctors ordered an MRI. This test confirmed our worst fears. Something was very wrong. Our son was diagnosed with Leukodystrophy. A rare and progressive, terminal disease of the white matter in his brain. We had to obtain a genetic test to pinpoint the exact type. He has a POLR3B mutation, or 4H Leukodystrophy. Very rare and very poorly understood. He will progressively lose motor function and it is eventually terminal. There is no cure and no treatment. Our lives have been turned upside down by a rare monster that we weren’t even aware of until a few months ago. My heart aches for all that suffer from rare diseases. There seem to be so few answers and it can be hard to find hope at times. We pray for all of you suffering or who have loved ones suffering! We will do all we can to raise awareness to rare diseases! God Bless!