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No thanksThanks to our generous sponsor who has matched approx. $56,000 in donations. All matching contributions have been claimed but we still need your help
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WHY I'M HOPEFUL
From Quinn's Mom
For 16 years I dreamed of discovering the root cause of Quinn's neuro-developmental issues.
MRIs said my son's brain was Normal, but his life-threatening seizures told a different story. Almost everything was a massive challenge for Quinn - he was years behind on crawling, walking, talking …. The only milestone he ever hit on time was his social smile.
"Epilepsy". "Pervasive Developmental Disorder - Not Otherwise Specified". Those were just labels for symptoms. I didn't want a label. I wanted to understand the WHY behind Quinn's symptoms so that we might have a clue HOW to help his body heal from the inside out.
After years of searching … and every available test failing to give us an answer, our neurologist at the time tried to comfort us with the fact that “rare disorders are rarely treatable” - so a diagnosis probably wouldn't give us any new ideas for how to help Quinn anyway.
But, I couldn't help but dream.
I'd seen the movie "Lorenzo's Oil ” and knew that sometimes simple molecules can lead to miraculous treatments for rare diseases … and that sometimes it takes parents racing against the clock to push the science forward.
I fantasized that if I only knew what was happening at a cellular level, I could stay up all night, every night, scouring PubMed until I found a safe substance that could heal – or at least help - our beautiful boy’s brain.
And now, with the diagnosis of PACS1, my dream is coming true.
Thanks to the current research funded by the amazing team at the PACS1 RESEARCH FOUNDATION, we finally have a basic understanding of the genetic wrench that got thrown into our son' s cellular biology:
PACS1 is a sorting protein. It's part of system that helps transport certain molecules and proteins to their intended destinations inside or outside the cell.
But a single mutation in one copy of the PACS1 gene appears to be responsible for creating a problem protein .
It's a "problem protein” because it interferes with the healthy protein from the NON-mutated copy of the PACS1 gene doing its sorting- job properly.
So … HOW do we stop the problem protein from getting in the way of the healthy PACS1 protein?
Good question!
And because the world of genetic research has made incredible leaps in the past decade, I don't have to stay up all night, every night, scouring PubMed for the answer!
If there is a "miracle molecule” for kids with PACS1 Syndrome , there are scientists who can help us find it.
Today, there is a test Researchers can use called a Small Molecule Screen. The science behind the technology is mind-blowingly beautiful and complex, but in the world of medical research, the test itself is not all that difficult or all that expensive.
The test can screen MILLIONS of molecules to assess which ones might have an affinity for the PACS1 protein produced by the mutated PACS1 gene. Any one of those molecules could potentially offer a simple solution for removing or blocking this problem protein.
In Lorenzo's Oil, the "miracle molecule” discovered to halt the damage from ALD - a progressive neurological disease - was not an approved FDA drug, it was a blend of fatty acids found in olive oil and rapeseed oil. The fatty acids in the oils prevent another kind of fatty acid from accumulating and damaging the patient's nerve cells.
PACS1 Syndrome is a neuro-genetic disorder and it manifests differently in every child. Most are delayed in all aspects of their development. In our story, Quinn primarily suffers from seizures and neuromuscular issues and since the age of 10, his neurological health has been slowly, but progressively, getting worse.
The turn in the wrong direction was particularly startling because it came on the heels of an amazing cognitive growth spurt. Against all odds, from ages 4-9, Quinn learned to do all the “typical kid ” things we were told he would never do: talk, read, write, run, skip and jump. He memorized the State Capitals and all the Presidents. He could list 140 countries alphabetically and spell them all correctly! He even made friends with kids his own age.
And then, at age 10, the cognitive growth came to a halt. His small body started to grow, but his muscle tone got tight instead of floppy. He developed a new kind of seizure that frequently caused his body to be catapulted through space - with terrifying force. And the kid who loved to walk for miles suddenly needed a wheelchair.
None of the experts could explain Quinn's physical downward spiral.
And our search for a WHY began to feel like a true race against the clock.
Which is why we pushed for Whole Exome Sequencing when all other genetic screens had failed to give us an answer.
And that led us to Quinn’s PACS1 diagnosis and to a community of extraordinary parents and children with the same hopes and worries as ours.
And now that we finally have our "why", I am chomping at the bit to get to the “how"! Except now I'm hoping to find a way to help Quinn AND all the other kids with PACS1 Syndrome.
Despite our family's worry about Quinn's future, our experience of raising a child with this rare disease is not a sad one. Quinn only knows how to live in the moment and has taught the rest of us to do the same. He loves with his whole heart and has taught the rest of us to do the same.
Every chapter of our story begins and ends with love.
But that beautiful reality doesn't keep me from dreaming of adding another chapter to our story ... a chapter where a "miracle molecule" is found -- and Quinn is able to walk independently again - and maybe even skips his way into a future free of seizures and full of hope.
EVERY donation helps us write that new chapter! And if you can't afford a donation now, please just send a good thought and keep a hopeful heart for Quinn and the 200 million children around the world who are affected by rare disease!
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
PACS1 Syndrome is considered a rare disease; 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
The PACS1 Syndrome Research Foundation funds cutting-edge scientific research towards finding a cure for PACS1 Syndrome.
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 relegated to the sidelines.
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; LESS PARENTS WAITING AROUND FOR A MIRACLE TO HAPPEN;
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 : https://fundrazr.com/curepacs1?ref=ab_98mIJ2
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Follow us on Twitter : https://twitter.com/pacs1foundation
Visit our website and share it WIDELY : www.pacs1foundation.org
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