Fabry Disease Through Simple Blood Test, A Lucky Catch for a Suffering Patient

Severe pain in the feet, high fevers, headaches, constipation and fatigue. These were all symptoms our son Blake started experiencing at the age of 5 1/2. After several doctors’ appointments with his pediatrician, lots of blood & urine test and many sporadic pain “episodes” we were referred to Children’s Hospital in Seattle.

We first saw a rheumatologist who ran several blood tests to check for every type of arthritis you can imagine, but those all came back normal. We were then sent onto a neurologist who was a bit puzzled by his symptoms too but decided to run more blood tests to check for Complex Regional Pain Syndrome, Fabry Disease and/or any metabolic causes.

On Wednesday Feb. 24th, 2016 we received a phone call from the neurologist. She informed us that they had received all of the blood tests results. She said Blake’s metabolic tests came back great and showed no sign of Complex Regional Pain Syndrome. As she continued she said that the results did show that Blake’s body does not produce the enzyme called alpha-galactosidase A, which means he has Fabry disease. It took us over a year to get a diagnoses.

Ok, so what does this mean? Fabry disease results from abnormal deposits of a fatty substance (called globotriaosylceramide) in blood vessel walls throughout the body. The primary defect which allows this to occur is the inherited deficiency of the enzyme, alpha galactosidase A, which is normally responsible for the breakdown of globotriaosylceramide. The body continuously performs metabolic processes which produce, recycle and remove vital compounds. In patients with Fabry disease one such common compound formed of sugars and a fatty substance (globotriaosylceramide) does not get broken down due to the missing enzyme alpha galactosidase A. Since this fatty compound (lipid) is not being broken down and removed, it begins to accumulate. Thus, Fabry disease is often referred to as a “storage disorder” due to this abnormal accumulation. In patients with Fabry disease, this accumulation occurs primarily in the blood and in the walls of blood vessels. As the abnormal storage of this fatty compound increases with time, the channels of these vessels become narrowed, leading to decreased blood flow and decreased nourishment of the tissues normally supplied by these vessels. This abnormal process occurs in blood vessels throughout the body, particularly affecting vessels in the skin, kidneys, heart, brain and nervous system.

Blake has a team of doctors at Children’s that will work closely with him. They include a Biochemical Genetic doctor, Cardiologist, Nephrologist, Dermatologist, Ophthalmologist, Otolaryngologist and Neurologist. There is currently NO cure, but there is a treatment called ERT (Enzyme Replacement Therapy) which includes a transfusion every 2 weeks for the rest of his life. This treatment plan costs around $350,000 a year.

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 we can. We truly appreciate all of the love and support we have received and know we will continue to receive throughout this journey!