The story of Ashley
Our son, Johnny, is 10 months old. He was diagnosed with Maple Syrup Urine Disease and Cystic Fibrosis when he was 4 days old. He is the only person in the United States to have both these diseases simultaneously and the second in the World (though we know nothing about the other person). Having a child with one rare disease would have been enough, but two have been a whirlwind and rollercoaster. We are so thankful for the amazing medical care Johnny receives here in Pennsylvania. Because of this and our dedication as parents, Johnny is thriving and defying all the odds. We hope to raise awareness this Rare Disease Day of the much needed funds and support ALL rare diseases need. We’ve battled, and will continue to battle, insurance companies, medical food companies and other organizations to try to get support for Johnny. We will battle until all these diseases’ treatments and management plans are covered by insurance Worldwide. Johnny was a blessing from the day we learned of our pregnancy through the day of his diagnosis and continues to be a blessing to this day. We were brought into this world of rare disease unexpectedly but we cannot wait to see what we can accomplish! #msudcfwarrior