The story of Judith
6 years ago I was a healthy hard working mom of 2 teenagers. Then one day when I was at work I realized I could no longer hear the orders coming in over the speaker. It wasn’t long I could no longer hear anything. I was experiencing blurred vision and numbness below my knees, the palms of my hands. No doctor could tell me what was happening and I was being bounced from one Dr to the next. Fast forward a few years and I am deaf, but now I am having shaking in my limbs and I was having a hard time walking, and falling alot. Within a few months I was struggling to breathe and was on a walker. Did I mention I was 36 years old, then the day my life changed. I was rushed to the ER admitted into the ICU for 38 days, where I was told my vocal cords were paralyzed along with my diaphragm. They inserted a feeding tube and I was placed on a ventilator. I was told I had a mitochondrial disorder and was prescribed what they called a mitochondrial cocktail. I showed some slight improvement and my family trained to take care of me, so I went home with all the equipment. I slowly improved but my symptoms did not match my diagnosis. I was then informed of the Undiagnosed Disease Network and to my luck a new center opened in my state. I was one of the first patients approved and soon they had a new diagnosis Riboflavin Transporter Deficiency Neurononapthy. My body does not absorb the Vitamin B2. This condition is so rare there are only about 100 cases and my form may be so rare that there is only 1 other. I am now taking 2100 mg of Riboflavin everyday. I am regaining some of my abilities such as going from a wheelchair to now starting to walk with a cane. I have been told I shouldn’t be able to do this bit I work out 6 days a week. I am permanently deaf but I do have a cochlear implant. It is all a learning curve from here, but I will stay strong. I want to encourage everyone with a rare disease to stay strong and rally everyone else to show their support. And to believe it was just a vitamin.