Severe pain in the feet, high fevers, constipation, headaches and severe fatigue. These were all symptoms our son, Blake, was experiencing. After several doctors’ appointments with his pediatrician, lots of blood & urine tests and many sporadic pain “episodes” we were referred to a local children’s hospital.
We first saw a rheumatologist who ran several blood tests to check for every type of arthritis you can think of, but those all came back normal. We were then sent to a neurologist who was a bit puzzled by his symptoms as well but decided to run more blood tests, one being for Fabry.
On Wednesday Feb. 24th 2016 we received a phone call from our neurologist. She informed us that the tests confirmed that Blake’s body does not produce the enzyme called alpha-galactosidase A which means he has Fabry disease. He has a naturally occurring mutation and has a new mutation which has not been recorded before.
It took us over two years to finally get a diagnosis. He is being treated now and has 9 specialists who now monitor him. We know we have a long road ahead of us, but we are ready to learn as much as we can and help raise awareness for this rare disease in any way possible.