Your share could raise $30
Before you go, did you know that simply by sharing this campaign, you could help it raise $30? It's an effective way to support the cause.
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
Our Generous Sponsor has already provided $56,373 in matching contributions. All matching contributions have been claimed but we still need your help.
- Pin it
- SubscribeUnsubscribe
- Embed
Team Sienna hasn't added a story.
Sienna was welcomed to this world with love by her parents, family and close friends. Sienna showed us early on that she is a strong and amazing girl. During the birthing process, there were complications. Within seconds of Sienna’s birth, the medical staff and the family saw that Sienna’s left side of her body was limp. She was also having difficulty breathing. She was rushed to the NICU. After 48 hours Sienna was discharged.
Sienna came home with us on Christmas day. Within hours of being home, we noticed Sienna was having trouble breathing. We rushed to the ER. After being monitored, the doctor we met with said she was fine to return home.
Thank God my husband was firm with the doctor and essentially said that we were not leaving until we figured out what was wrong. Sienna was admitted for observation. During the early morning hours, a nurse had noticed that she was having respiratory issues. They continued to monitor Sienna. Prior to discharge, an MRI was completed. We were told we could leave the hospital and a doctor would call us with the results. As we were leaving the hospital room, a nurse informed us that we couldn’t leave until further tests were administered. A doctor came into the room shortly thereafter and informed us that the MRI showed Sienna had suffered a massive stroke. She also said that Sienna could have another stroke at any time which could kill her.
We were in complete shock and very afraid for Sienna. Soon after the news, an ambulance crew arrived in the room and Sienna was put into a traveling incubator. She was transferred to a hospital that could provide her with a higher level of care.
Once transferred, Sienna was given numerous batteries of test and her heart and brain were monitored. The next day, we met the Neurologist. He informed us of the origins of the stroke (a condition that developed from a prolonged labor called Chorioamnioitis. He told us the infection developed and a blood clot was formed, traveled through the umbilical cord, through her heart, and ultimately to her brain where the blood clot popped and showered multiple regions of her brain.
After days of being monitored and various issues were addressed, we were discharged on New Year’s Day.
Given Sienna’s seizure activity and stroke, she was monitored frequently by a team of doctors who specialize in working with children who are considered HIGH RISK.
We started therapy for Sienna with an occupational therapist, physical therapist and an early interventionist while she was still an infant. As time went on, team members started noticing Atypical behaviors.
After extensive tests, Sienna was diagnosed with PACS1 Syndrome. She was 1 year old. PACS1 Syndrome is a rare neuro-genetic disorder. Those who are diagnosed with this syndrome, experience “global developmental delays, intellectual disability, epilepsy, autism and significant language impairments, many individuals with PACS1 have limited speech” (pacs1 foundation)
We have been relieved to have joined with other families of children with PACS1. We help each other to increase our understanding of the syndrome, share our tips through trial and error and offer one another much needed support.
We are blessed and grateful that Sienna is happy and healthy. She is a sweet, curious, courageous, adventurous, smart and loving little girl. She is willing to work hard and is a great traveler, especially on long road trips.
We are extremely grateful for all who have been in our path and have made an impact on the well being and progress of our little precious princessa.
We hope that our children with PACS1 will continue to stay healthy. The PACS1 Foundation is funding research towards accelerating treatments for PACS1 Syndrome. We appreciate any support that contributes to the PACS1 research foundation.
You can help by donating to this campaign; 100% of your donation will be used to support research that accelerates treatments for PACS1 Syndrome!
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
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
Highlights
See all activity38Activity
Related fundraisers for our cause
Join our team
Join Team Sienna in making this campaign a success. Together we can do good for the cause we believe in.
Join our teamStart your own team
Work with your friends to support our cause. It's easy, free, and takes just minutes. Start a team now
Already on a team?
Go to your team's campaign
Delete media item?
Delete this item from the media gallery? It will also be deleted from any related story update.
Set as ?
The campaign video will appear in social media and email.
The campaign cover picture will appear in social media and email.
The will appear at the top of your campaign page and in social media and email.
Reset ?
It will be removed from the top of your campaign and won't be used as default in social media and email. The will remain in the media gallery.
Embed
Share a link
Delete update
Delete this story update?
Any pictures or videos will remain in the campaign's media gallery.
Report campaign
Report submitted
Thank you. We take reports like yours very seriously. Our goal is to keep the community safe.
Please know that we may contact you for more information, but that we won't notify you personally of our decision. If the campaign remains available within a few days, it's likely that we determined it not to be in violation of our policies.
Thank you. We've already received your previous report. If the campaign remains available within a few days, it's likely that we determined it not to be in violation of our policies.
Tell us about the problem. Please fill in both fields below.
Record a video
Upload a video
Nothing grabs attention for your cause like a personal video. Take a minute or two to record one now. Record a short video message of support. Or upload one from your device. You can preview or redo your video before you post it.
Nothing grabs attention for your cause like a personal video. Upload a short video message of support. Upload a short video message of support. Or record one right now.
- Most effective video length: about a minute.
- Maximum length: 5 min.
- You can preview or redo your video before you post it.
Heads up! The existing video will be replaced.
Email your friends
Join our team
Tell people why our cause matters to you. Your personal message will encourage others to help. Easy, effective, optional.
Say it in video
Short personal videos by supporters like you are incredibly powerful. Record one right now and you'll help us raise more money. Easy, optional, effective.
Add a personal goal
Set a personal fundraising goal. You'll encourage more contributions if you do. And rest easy. There's no obligation to achieve your goal or bad consequences if you don't. Easy, optional, effective.
We have a video!
Video thumbnail
We'd love to show you our campaign video. Want to take a look?
, you're already on the team.