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

In 2013 my daughter Alya was born and she completed our family. It was a blissful and perfect time. But at 5 weeks old, she had uncontrolled seizures, subsequently her milestones were significantly delayed and her epilepsy was not controlled. There was a lot of time spent at the hospital fighting for a diagnosis.

 When she was 3, finally we had a diagnosis, Alya had a rare disease; PACS1 Syndrome.  We were told there was no cure or treatment. There was a loss of the ability to even dream about the most basic things for Alya.  Children with PACS1 syndrome have  significant intellectual disability, 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).

With the availability of genetic testing improving significantly, more and more families are receiving a rare disease diagnosis. At some point, ALL of us will know someone we care about who is diagnosed with a rare disease; this is a cause that affects all of us.

THAT'S WHEN IT WAS TIME TO FIGHT FOR A CURE FOR A BETTER LIFE FOR ALYA AND ALL OF HER PACS1 FRIENDS.

 The PACS1 Syndrome Research Foundation was born to continue this fight towards a cure. 

PACS1 SYNDROME HAS A MUCH HIGHER POSSIBILITY FOR A CURE BECAUSE ALL OF THE CHILDREN WITH THE DISEASE HAVE THE EXACT SAME MUTATION MAKING IT A “RARE” UNICORN.

The current science is telling us we should be very hopeful about finding a cure. 

The foundation is employing a multi-pronged approach by supporting cutting edge innovative scientific research towards finding a cure; we have narrowed it down to four proposals in the fields of mouse models, chemical drug screens, c-elegans models and structural biology, which will together lead us towards a treatment that will block the effect of the toxic mutation and therefore treat PACS1 Syndrome. 

WHAT IS STOPPING US FROM REACHING OUR GOALS EVEN THOUGH THE SCIENCE IS PROMISING?

Rare disease funding is in its very initial stages and typical funding channels via NIH and pharmaceutical companies are not yet established. Without support from the PACS1 foundation, any research towards a cure for PACS1 Syndrome WILL be sidelined.

The field of genetics has evolved significantly in the last decade, the science is there. The only thing standing in the way of a cure is funding. 

Our incredible group of PACS1 caregivers has an unlimited supply of hope, love and fortitude; we have used our resources for initial funding; however to continue this extremely promising research we need to raise $175,000 to fund further studies on the disease, namely the four areas named above; which are crucial to advance treatment from lab to clinic.

FINDING TREATMENTS FOR A DISEASE LIKE PACS1 WILL HAVE  A CASCADING EFFECT; INCREASED PRESS, ADVOCACY AND FUNDING TOWARDS CURES FOR MANY OTHER RARE DISEASES... AND LESS PARENTS WAITING AROUND FOR A MIRACLE TO HAPPEN; 

The pathways can overlap amongst different genetic causes of neurological disorders, therefore the knowledge that we find from treating PACS1 can be readily applied for other rare diseases, and other neurological disorders.

Having 10% of the population suffering from a rare disease, with patients requiring lifelong support and treatment, is a huge economical burden; finding ways to help and treat as many of these rare diseases as we can will be very positive economically for ALL of society in the long-run .

WE ASK FOR YOUR HELP TODAY TO BECOME A PART OF THIS INCREDIBLE OPPORTUNITY THAT CAN IMPACT A LARGE GROUP OF CHILDREN. HOW CAN YOU HELP ?

Every donation counts no matter how small. 

100% of donation proceeds will be used to directly fund the research projects. All minimal administrative expenses are covered by the PACS1 Families. The PACS1 Syndrome Research Foundation is an IRS approved 501(C)(3) Foundation and donations are tax-deductible. The foundation's TAX ID is 82-6460046. 

Please share our fundrazr page :   fundrazr.com/ curepacs1

Follow us on Facebook : https://www.facebook.com/pacs1research

Follow us on Instagram : https://www.instagram.com/pacs1.research/

Follow us on Twitter : https://twitter.com/pacs1foundation

Visit our website and share it WIDELY :   www.pacs1foundation.org

Organized by Taruna Reddy, Alya's Mother, Co-founder PACS1 Foundation.