April Featured Alexander Disease Warrior
written by Daniel’s mom, Deborah Flohre
Daniel Hughes was born 19 April 2010 in Atlanta, GA. Throughout the pregnancy, Daniel was 2 weeks behind on the body size, and 2 weeks ahead on head size. At birth, he was underweight, couldn’t maintain his body temperature, and failed the car seat test. He was closely followed by Babies First until 6 months where he was referred to Babies Can’t Wait due to the lack of milestones reached. Daniel was not keeping up with his peers, so we were referred to Marcus Autism Center. He finally was seen around the age of 2 to find all blood work came back normal and didn’t appear to be on the autism spectrum so an MRI was ordered. Initially we were told he had mitochondrial disease. Before doing a muscle biopsy to research the type of mitochondrial, another MRI was ordered to see if there were any changes. It was then, early 2012, that we were told he actually had Leukodystrophy, suspecting Alexander Disease. We were told to go to genetics to get blood drawn to confirm this diagnosis, not to do any research, and just wait on the results. October 2012, the results confirmed the Alexander Disease diagnosis. At 2 ½ years old, we were told to take Daniel home and just give him the best life possible and there was nothing we could do but treat symptoms and keep him comfortable – that he wouldn’t live past his 6th birthday.
After the initial shock, we refused to accept there was nothing we could do. We started working with ULF and doing 10k fundraisers to bring public awareness and education about this rare disease. At the time, we were told Daniel was the only one in the state of Georgia to have this horrific disease. After 3 fundraisers, we decided to create our own non-profit called Daniel’s Fight. All proceeds have gone to the Waisman Center for AxD research, until just this past year when End AxD was created.
We joined the history intake trial with CHOP to provide as much to that data as possible. Through these visits we started hearing and learning of the possibility of a treatment and our hope became HOPE. To go from, “you will never hear of a treatment or cure in Daniel’s lifetime” to “there is hope of a treatment within several years.” This couldn’t be true without the dedication of those around the world pouring their lives into the research, the parents providing specific details, and everyone else in between.
To know Daniel will be 11 years old, to us, is a miracle. He continues to battle whatever is thrown his way. He is a funny, loving, sweet, stubborn, fighting warrior. He loves his playing with his older brother, adaptive bike, baseball, Disney, iPad, and just being outside.
We would like to thank every single person involved with the trials, travels, education, patient panels, etc. – it is YOU that will make a difference for these families. We want to thank those that will sacrifice so much for the upcoming trial so that other families will not have to suffer like they have. We know together we can make a difference, and we will continue to do our part the best way we can.