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JGA Family Member Chosen as Rare Champions of Hope “Rising Star”

One of the members of the Jordan's Guardian Angels global family is being recognized for her work and dedication in the rare disease community. Lexi Levine was nominated as a Rising Star for this year's RARE Champion of Hope Awards.

The celebration honors and recognizes true champions for rare disease, highlighting leaders who have made a significant impact in advocacy, industry, medical care, science, as well as up-and-coming rare disease leaders.

Lexi's brother Barry had Jordan's Syndrome. 

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In her own words, Lexi describes the passion behind her work.

My whole life I have been described as “too hopeful.” When my brother Barry, who had Jordan’s Syndrome, would be sick my family and the doctors would be whispering behind me, about how they worried my hope clouded my ability to understand the severity of the situation.

But for me, I had spent my whole life watching my baby brother who was continually told no- practically every day- break the odds, and do exactly what doctors told us he never would; so I knew he was stronger than they thought and that their doubt, only made him stronger.

Now as a clinical research coordinator, I couldn’t help but smile when my team spoke about this one mother. She was determined to give her baby a normal life, even though he had a very severe form of a devastating disease. I remember how others believed she didn’t understand how sick her baby was, and that her hopes were unrealistic. She even expressed observing this herself. And when I told her how strong she was for all that she had been through- she said: “I’m not strong. What else was I going to do?” And that is exactly what my mom would always say about my brother.

My patient’s mom, and me- we both fully understood just how sick our loved ones were. But we choose to look past the illness, enjoy our time together, and fight like hell; and that cultivates and undying sense of hope in a person- I think I am lucky enough to have that trait.

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I am fortunate enough to work on some of the most cutting-edge clinical trials, in the field of spinal muscular atrophy (SMA). SMA is described as “the baby version of ALS,” meaning, that the muscles die over time. As a twenty-two-year-old, I ran an FDA audit on a trial I was the primary coordinator of; the drug was approved 3 months later. In its first five months, this drug saved 100 newborns, from this devastating disease.

I feel so proud to work for such a deserving population. I have never seen a more dedicated patient community; they truly are responsible for pushing this field forward, so quickly. Because this disease affects the muscles, most trials involve physical therapy assessments. And I get to record those sessions- and this is the absolute best part of my job. Because here, I see the science progressing.

Depending on the study, I get a month or two check in, for about a year or two, and watch as the medicine is making my patients stronger. I always say, I am willing to do whatever a patient may need. A lot of times, that means using my personal time. But then I go into a physical therapy session, where I as the videographer, and not as an “evil PT” (in that patients’ eyes, as they cry at the demands), become the patients’ favorite person in the room and it makes it all worth it.

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My biggest challenge in the rare disease would be resources and acceptance. First, resources- as I am sure you are aware, the resources in any rare disease group, are scare. However, I think a lot of time that is what leads to staff burn out. So many people start off so eager to make a difference, but then do not have the support at work to accomplish what they set out to do, and that can be exhausting. So, because I cannot magically create resources that don’t exist, it turns into a challenge of not over working myself to compensate.

The second challenge is acceptance from the general population. I was never once ashamed of my brother, his limited abilities, or the way he looked. I did however get enraged when people would just stare at him. Even worse if they would say an inappropriate comment or use the “R-word.” But in addition to this outright rudeness, there needs to be a wider spread desire to make a difference. I often feel that those who are not affected by something like a rare disease, only support it as much as they have to. Meaning, they may make a donation once, or share a couple posts, but they’re not willing to necessarily sacrifice for the cause.

But I think today, more than ever, the challenge of people not wanting to make a difference in an area that doesn’t affect them personally, is something that needs to change to further the field.

My undergrad honor’s thesis was investigating the correlation between head circumference and epilepsy severity in infants with tuberous sclerosis complex.

We found some exciting results we are getting ready to publish! Now I am a clinical research coordinator in the neuromuscular program at Boston Children’s Hospital, primarily working in spinal muscular atrophy. And by coincidence, we are working on an SMA biobank with Dr. Wendy Chung, who is leading the PPP research. I’m studying for the MCAT, and am hoping to go to medical school in the upcoming years.

Published

December 10, 2020

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JGA Spreads Holiday Cheer: Download Your Holiday Card Created by Our Children

At Jordan's Guardian Angels, we are getting into the holiday spirit thanks to a series of greeting cards designed by one of our families!

These e-cards were prepared by Michal Avni, one of our Jordan's Syndrome children, her loving brother Omri, and their father Gali.

Please click on any of the cards below to download. We only ask that you make a $5 donation if you download! Happy holidays, from our global family to yours.

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Published

December 1, 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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Our Global Community: Marley Mae 5K Raises Thousands

From Washington State, across the country and around the world, families joined our race for a cure for Jordan’s Syndrome.

The Marley Mae 5K and Family Walk, a virtual walk and fundraiser organized by a Washington family whose daughter is diagnosed with Jordan’s Syndrome, raised thousands of dollars to help fund our groundbreaking research effort. Dozens of participants took part in the virtual race, a race that can be run or walked from any location around the world.

Luke and Sandy Larsson created the event in support of their daughter, Marley, and other children impacted by Jordan’s Syndrome worldwide. Jordan’s Syndrome is a rare genetic mutation on the gene PPP2R5D that causes developmental delays and other symptoms, and is linked to autism, Alzheimer’s and cancer. There are now 100 cases worldwide. Jordan’s Guardian Angels is leading the research for a cure.

Last October, the Larssons wrote on the event’s Facebook page:

“This past winter, after 6 years of not having a diagnosis for our little girl, we finally got one from Seattle Children’s. Marley’s genetic team informed us that they figured out what was going on and explained all the research about an abnormality in her PPP2R5D gene. We also learned that Marley was the 65th person in the world to be diagnosed with it. After being in the dark for 6 long years and thinking Marley was the only one with this mystery problem, we were immediately in contact with other families from around the world. It was amazing!”

The Larssons created a website, t-shirts and more to help spread the word about our amazing journey – and in mid-May, people all over the world took part. It is yet another inspiring show of support and generosity – in a journey we couldn’t make without all of you.

After the two-day event, the Larssons wrote, “Thank you so much for helping make the first Marley Mae 5K and Family walk a huge success,” the Larsson family wrote on the event’s Facebook page. "We can’t thank you enough for all the support. We couldn’t have done it without you.”

The event raised $3990! Congratulations to our Marley Mae 5K winners:

First Place: Steven Hall (21:25)

Second Place: Erin Mcconnell (25:08)

Third Place: Jennifer McConnell (25:48)

Silliest Group Photo: The Hadley Family

Best Photo: Ann Marie Keeler

Published

May 31, 2019

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Our Global Community: Students Go Above & Beyond

In today’s edition of “Our Global Community,” we’re celebrating the incredible, life-changing bond between 9-year-old Francis Grant, one of the 60-plus children in the world diagnosed with Jordan’s Syndrome, and his fellow classmates.

Francis has attended Letterkenny Educate Together in Donegal, Ireland, for three years. The elementary school fosters an open, inclusive atmosphere for students to learn and grow together. But it wasn’t an easy choice to send him to school.

“Taking Francis into school was one of the hardest decisions to make for me,” said Francis’ mom Gina in a post to the school’s Facebook page. “I had him at home with 24/7. The thought of him being with strangers – and because he has no communication – I was heartbroken thinking he wouldn’t be able to tell me he was scared or lonely.”

What happened next is a testament to the power of inclusiveness. Francis’ classmates didn’t turn away. They welcomed him with open arms into the school’s community. Their unwavering support has helped Francis grow in leaps and bounds.

"He has changed so much in his 3 years there,” Gina said. “He is accepting social situations with ease now. This would never have happened before. He is far more aware and for the first time this past two months, giving hugs. He enjoys being with the other students so much, who play with him and read to him daily. He tries to feed himself and do what they do. It’s great to watch. He is looking at books and interacting with people and toys, which he never did before starting school."

Recently, Francis’ classmates won a contest, and instead of keeping the prize money, they gave it to his teacher to pay for extra resources for him. They also made Francis a sensory mat, a key developmental tool.

“These students and this school has helped us all see the boy behind the silence,” Gina said. “I’ll always be grateful they accepted him and his family with open arms, and they have shown to us that inclusion can – and does – work.”

Published

July 3, 2018

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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.