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Journey to a Cure: 2020 Midterm Research Update

Journey to a Cure is a comprehensive update on our global research efforts, during the first 18 months of an international research project led by Jordan’s Guardian Angels into the PPP2R5D gene mutation also known as Jordan’s Syndrome.

Research was expanded to include studying two neighboring genes, PPP2R1A and PPP2R5C. It is believed that this family of genes are closely related and studying them as a group is essential to unlocking the mystery of the disease.

The progress in this short time period has been unprecedented as the team moves with a great sense of urgency working to improve the lives of the children and families affected and follow linkages to other diseases. Working collaboratively, the research team has accomplished in this short time, what would normally take 4-6 years.

Click here, or on the image below, to read the full report on our progress!

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Published

August 26, 2020

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COVID-19 and Our Rare Community

When the news first broke about Covid-19, I had a small tinge of anxiety. In a matter of a few short weeks though, I saw the devastating toll it was taking in China and across Europe. Then the virus started to hit the US and spread rapidly. I immediately knew the most vulnerable populations would be at high risk. This hit close to home because if you want to put a definition on the most vulnerable, Ozzie would be on the top of the list.

Ozzie was born with an ultra-rare genetic mutation of PPP2R1A causing a long list of health issues including daily seizures, brain malformations, hydrocephalus, sleep apnea, cerebral palsy, visual impairment, respiratory issues and global developmental delay. My fears and anxiety heightened as I nervously watched this turn into a global pandemic. Social distancing became the hot topic, and stay at home orders began to pop up throughout the country.

At first, I thought it wasn’t going to be a big deal for our family because this is something we’ve been doing since Ozzie was born. We’re pros at social distancing and self-isolating especially during respiratory season, so I felt prepared and confident we could handle whatever was thrown our way. Our normal daily lives revolve around keeping Ozzie safe, healthy and out of the hospital, so this should be easy right? We’ve had to put our lives on hold, miss out on special occasions and milestones, and say no to large gatherings, and it feels like we’ve been preparing for this pandemic for over 2 years now. I prayed I would be able to share our experience and what we’ve learned now that so many people would be dealing with some of the same issues we face in our daily lives. If nothing else, I hoped it would enlighten others and bring empathy to families with medically complex and high risk children like Ozzie.

Then a different aspect of this pandemic started to unfold. I went from feeling like we’ve got this to panic. People were hoarding supplies leaving vulnerable families like ours without the necessary tools to care of our immunocompromised children. We couldn’t find disinfectant wipes or hand sanitizer among other things, and the threat of us not being able to get life saving medications and supplies started to rise. I can't hop in my car and drive to a regular pharmacy to pick up his special formula, medications or supplies. This isn’t an inconvenience for us, it’s a medical necessity and not having access to what we need to keep Ozzie alive is terrifying.

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"Our lives changed the moment Ozzie was born, and we’ve had no choice but to find a way to survive through the curveballs, fears, financial hardships, and unknowns every single day. If we can do it, I know you can too!"

To make matters worse, I watched the news and saw people still going out for social activities, having fun on the beach during Spring Break and not abiding by the new rules that had been set in place. Seeing people acting carelessly and having disregard for the safety of others infuriated me and lit a fire inside my heart.

I’m not sure people realize their reckless actions were indirectly putting kids like Ozzie and other vulnerable populations at risk. Every time someone makes a choice not to follow the guidelines and doesn’t do their part, it increases Ozzie’s chance of catching this virus which will give him a ticket straight to the PICU.

I understand our community isn’t the only one impacted by Covid-19 and I empathize with others experiencing similar fears. My heart truly hurts for the families that have lost their loved ones in this pandemic and didn’t get the opportunity to physically be with them and had to say their goodbyes through FaceTime or a phone call.

I ache for the healthcare workers that have experienced the most difficult times of their careers trying to save as many lives as possible while working emotionally and physically exhausting hours. I empathize with the essential workers in various industries that are putting their lives at risk every day to keep ours going.

To those that have lost their jobs, to parents that have turned into teachers and therapists overnight, to single parents trying to work and keep their homes running, to small business owners having to close their doors, to kids missing birthdays, graduations, and important milestones, and to so many others, I truly feel your pain. Our lives changed the moment Ozzie was born, and we’ve had no choice but to find a way to survive through the curveballs, fears, financial hardships, and unknowns every single day. If we can do it, I know you can too!

You see, when I tell you that Ozzie is medically fragile, the truth is Covid-19 or really any virus, cold, or flu could immediately put him back into the PICU. So for those that want to quickly reopen the country, please think about this when making choice that could affect the lives of so many others:

Have you helplessly watched your child stop breathing and turn blue?

Have you watched your child start seizing so uncontrollably you have to call 911 and get transported by ambulance to the hospital?

Have you held your child in your arms while he screams in pain and fear because the nurses are trying to to place an IV so he can receive life saving medications?

Have you watched your child being swarmed by a room full of doctors, nurses, and respiratory therapists to be resuscitated?

Have you watched your child as a breathing tube was inserted so a ventilator could keep him alive?

Have you slept in a hospital every night for months listening to the sound of machines beeping and alarms going off as you beg and plead to God for your child to live through another night?

Have you sat in a cold and sterile conference room discussing the probability that your child won’t live past the age of 5 due to his fragile state of health?

Have you ever had to make decisions about what you would do for end of life care for your child?

If you answered no, then please take just a few minutes to put yourself in my shoes because I have experienced all of these heartbreaking situations and more. I wouldn’t want anyone to go through this trauma, and this is what Covid-19 could do to you, your loved ones, and so many others like Ozzie if we aren’t careful. Remember, we might not all be in the same place in life, but we’re all fighting the same storm, and it’s called Covid-19.

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The only way for us to get through this crisis is to stand strong together. If we want to get back to our new normal, we must continue to follow social distancing guidelines and open our country safely and responsibly.

If we don’t, we’ll end up right back where we started with more lives in the balance and the risk of our healthcare system crashing. As much as I want to return to our normal routines and see our economy flourish again, the greater good of humanity and the health of the most vulnerable comes above my own needs and desires. The selfless sacrifices we make now will build a better future for all of us.

So please, I beg you to stay safe at home as long as the medical experts recommend. We will get through this stronger than we were in 2019 with more empathy, respect, gratitude and love in our hearts. Take advantage of slowing down and finding joy in the chaos. Our family sincerely thanks you for doing your part. Stay strong friends. We’re all in this together!

Published

May 6, 2020

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Momentum Building: 2019 Year-in-Review

In 2019, the Jordan’s Guardian Angels global community of families and researchers pushed ahead, making significant strides on our journey to cure Jordan's Syndrome, a mutuation on the gene PPP2R5D.

Our brilliant researchers are working together collaboratively in a way the science world has never seen, helping establish a roadmap for treating not only Jordan's Syndrome, but other rare genetic conditions. Our families around the world are united, dedicated to finding answers for our children. And none of this would be possible without the incredible support we receive from communities across the world.

Our Families

  • Our community grew from 78 families to 120 families this year!
  • We had our second family conference in March in the San Francisco area, where families from all over the world joined together with the entire research team to learn about the latest breakthroughs.
  • Click here for an in-depth look at the potential worldwide impacts, and watch the video below to experience the family conference!

Our Research

  • We held two in-person workshops in Chicago and New York, and bi-monthly virtual labs with the entire research team as they continue their amazing work.
  • Our wonderful research team made significant progress in their efforts to find a treatment and a cure for our children over the last year. In the words of lead medical investigator Dr. Wendy Chung, our toolbox is full.
  • We now have iPSCs derived from our children, mice models for , and nanobodies for each variation.
  • At our recent research team meeting in New York City, we learned the team has made great progress in understanding how the mutation works, which will help focus their search for a cure.
  • Our researchers believe the PPP2R5D mutation may be connected to some of our greatest medical mysteries, including autism, Alzheimer's, and cancer – and potentially much, much more.

Getting the Word Out

  • Our website traffic is increasing at a substantial rate and our videos have been shared and seen by tens of thousands of people all over the world.
  • The San Francisco Giants and Minnesota Twins welcomed JGA to their ballparks, showing us on the big screen with our message visible for more than 50,000 people to see.
  • The San Francisco 49ers also mentioned JGA on their social media accounts, where millions of people were able to gain more awareness about our efforts.

Our Community

  • Many fundraising events have been held around the globe.
  • The North Dakota Gala and the Golf Tournament raised more than $215,000.
  • Our annual Lake Tahoe fundraiser also raised an additional $200,000.
  • In addition, we are SO proud of our families who have also stepped up and raised over $52,000 through in-person and Facebook events. So much to be thankful for!

We have much work to do, but we are well on our way to making our children's – and the world's – future as bright as possible. We owe it to ALL of our children. Here's to another amazing year in 2020!

Follow our journey and connect with our community on social media!

www.facebook.com/PPP2R5D

www.twitter.com/PPP2R5D

Published

January 11, 2020

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1121 L St, Suite 100, Sacramento, CA 95814

Jordan’s Guardian Angels is a public charity exempt from Federal Income Tax as an organization described in Section 501 (c)(3) of the Internal Revenue Code, EIN 90-1022228. Contributions to Jordan’s Guardian Angels are tax deductible to the fullest extent allowed by law. No goods or services were provided in consideration for the contributions except as reported above.