Luka was born on August 30th, 2021. Two months later at his scheduled checkup, Luka had failure to thrive, dropping to 5% in weight, was jaundiced and his liver inflamed and elevated enzymes indicating he was in liver failure.  By Friday November 12th, he was in the hospital getting a liver biopsy. The test indicated severe liver abnormalities and stage 4 cirrhosis, and was being considered for a transplant list. 

With no clear reason for this abrupt change in health we went into overdrive trying to get a diagnosis. It was initially thought to be a form of Biliary Atresia, but the biopsy ruled that out, as were tumors, blood disorders and cancer. A series of additional labs and tests were done to rule out masses and to see if what has been attributed to his liver might be affecting other tissues. This included echocardiogram, ultrasound of abdomen, sonogram of liver, kidneys, pancreas, x ray of lungs and an MRI of the abdomen. An EEG was also performed to rule out possible seizures and confirmed no abnormal brain activity.  All the tests cleared all other organs but confirmed significant scarring of the liver and enlarged spleen.

Still unable to obtain a diagnosis we were pushed by a friend to get our exomes sequenced. After a tip from a specialist directing our doctors to look at our genetics, and specifically at a group of diseases called CDG. Within that month, we finally were able to get that diagnosis!

On December 9th, 2021, we found out that Luka inherited a rare, X-linked, loss-of-function mutation in the ATP6AP2 gene which expresses a protein by the same name which helps assemble an organelle substructure know as a Proton Pump, responsible for regulating intracellular pH and homeostasis.  Even though the condition has many dimensions (metabolic, immunological, neurological), it was initially identified in metabolic pathways and classified as a Congenital Disorder of Glycosylation IIr.

HOW RARE? He has been diagnosed as the 4th person in the WORLD with this disease. With each patient expressing varying phenotypes, it's hard to know how this disease will manifest, or the extent of the phenotypes expressed.

After navigating the diagnosis, the new challenge became finding a company that would develop a cure for a disease with only 4 known patients with the specific mutation.  We decided to take matters into our own hands.  After months of research, speaking with specialists, investigating abstracts, and meeting the smartest minds in the field, we have arrived at the conclusion that there is hope, not just for Luka but for numerous other rare diseases.