ANote from a PACS1 Mother
Taruna Reddy, President, Alya's Mother
Alya was 3 years old, when she was diagnosed with a rare disease - PACS1 syndrome. We were told there was no cure and to go home and learn to manage the symptoms.
Children with PACS1 syndrome have significant Intellectual Disabilities, severe speech delays (most affected children achieve very limited speech in their lifetime), significant motor delays, epilepsy, and will require life-long care in the most basic areas of life (such as feeding and safety).
We subsequently learnt, that there were real scientific avenues to find a treatment. We assembled a world-renowned scientific team and founded the PACS1 Syndrome Research foundation in 2017.
Alya's condition has a much higher possibility for a cure because all the patients have the same exact mutation, which is highly unusual in genetic diseases.
TODAY WE ALL HAVE AN INCREDIBLE OPPORTUNITY TO BE A PART OF THIS REVOLUTION; JOIN US; CURE PACS1; CHANGE THE FUTURE OF RARE DISEASE!
Furthermore; the patient cells analyzed under a microscope show severe dysfunction, such an obvious looking dysfunction in patient cells is not at all common in a genetic disease.
The science to find treatments and a cure looks very promising. The foundation continues to fund research to bring treatments to our PACS1 children as soon as possible.
200 million children world-wide suffer from a rare disease. Only 5% of these have any kind of treatments. These could be anybody's children.
Finding treatments for diseases like PACS1 will have a cascading effect; increased press, advocacy and funding towards cures for many other rare diseases; Less parents waiting for a miracle to happen to help their children live normal lives.