Katy has been diagnosed with Hermansky-Pudlak Syndrome, a rare genetic disorder associated with albinism that typically doesn’t show the most difficult symptoms until the teens or twenties. You can read more
about it at the following website:
A summary from the National Institutes for Health states that “Hermansky-Pudlak Syndrome (HPS) is an inherited disease which results in decreased pigmentation (oculocutaneous albinism), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fat-protein compound (lysosomal accumulation of ceroid lipofuscin). The disease can cause poor functioning of the lungs, intestine, kidneys, or heart. The major complication of the disease is pulmonary fibrosis and typically causes death in patients ages 40 - 50 years old…There is no known treatment for HPS.
We’re grateful not to have known sooner that Katy had HPS, because she’s been able to live a normal, happy life without that knowledge, but now she’s had some difficult realities to face and decisions to make. We are looking at treatment options (which at the moment primarily involve pain management) and her doctors are actively searching for other medical facilities that have had experience with HPS. Our immediate concern is finding a way to manage the intestinal pain well enough that she can eat, and we are making some progress in that area although she is not yet taking in enough nourishment to sustain herself. She does not want to be connected to an IV for the rest of her life. Katy will be 22 on September 4th.
We appreciate your continued prayers. Katy has asked that you pray for her strength so that she can continue to be a good witness through and in the struggle.
Paul & Dawn