This site is dedicated to supporting Dominik Kapusnik, or "Bobek".  

Since day 1 Dominik's life has been an uphill battle. From the moment he was born he was faced with respiratory distress and a 10 day NICU stay with jaundice and low calcium. From there he was discharged to continue to face anemia, chronic nasal congestion, food intolerances, and the beginning of catching every possible upper respiratory virus. Dominik has seen many specialists including multiple neurologists to try and stop his reoccurring seizures. He also attends multiple therapy sessions (13 a week and counting) in hopes to help him one day be mobile and talk - or at least be able to communicate through a device. 

Through persistence and multiple hospital stays, we were lucky to get an early diagnosis of SPG-47 for Dominik.  We are setting up this fund to support his long journey toward a happy and joyous life.

Spastic Paraplegia 47 is a rare genetic disorder that impacts the physical and mental development of patients. There are currently only 11 known cases of SPG-47 in the United States. There are currently 249 known patients around the globe that have been diagnosed with AP-4 which is the collection of SPG 47, 50, 51, 52. While they are different genes, they have the same phenotype and it's believed the cure will be similar for all 4 genes. 

We are hoping that Dominik will be one of the first patients to be able to try out a gene therapy for the disease, see the campaign for more details. The gene therapy is being developed through the Cure AP-4 organization under the direction of Dr. Darius Ebrehimi-Fakhari working out of Boston's Children's Hospital. This fund is to raise money for Dominik's dosages and treatments. The website above provides background on the organization developing the drug and how to donate to general research. Since so few children are affected by this rare disease the drug is not being commercially developed and therefore is funded through private donations and grants through the AP-4 organization.