Follow us on our social media platforms to connect and interact with other patients, families, and physicians around the world! We love hearing from you.
Young parents Fred and Vicki Modell are overjoyed by the arrival of their first child, a perfect baby boy they name Jeffrey. But just months later, it becomes clear that something is wrong. Jeffrey is diagnosed with a rare disease that leaves him frequently sick and perilously susceptible to even the most common cold. He begs his parents to “Do Something” and though they desperately try, Jeffrey ultimately succumbs to his illness at the age of 15.
Out of their devastating loss, Fred and Vicki turn to their enduring love for each other to find the strength to fulfill their promise to Jeffrey and they resolve to ‘do something.’ With just $500 in the bank, the couple sets out in search for answers to what took his life. Guided by Jeffrey’s memory and the hope to help just one child, Fred and Vicki turn pain into purpose and end up touching the lives of parents and children all across the world. Millions of lives have been forever changed because of Fred and Vicki's determination to “Do Something.”
Welcome to JMF’s blog, Vicki’s Voice! We love hearing from people in our community, and our blog provides a meaningful platform for us to communicate and connect. Here on the blog, we share more personal stories about our programs, patient experiences, Foundation milestones, caregiver health, updates from the lab, and more topics to support our global PI community.
Do you have a request or suggestion for future topics? Share your ideas by sending us an email: firstname.lastname@example.org.
Today marks the beginning of the 10th annual International Plasma Awareness Week (IPAW)! This week, our goal is to raise awareness about the importance of plasma donation, encourage new donors, and increase public knowledge about plasma therapies for Primary Immunodeficiency.
Plasma makes up 55% of our blood, but it cannot be created in a lab. It takes 130 plasma donations to treat just one patient living with a PI for a year with infusions that contain lifesaving antibodies to improve quality of life. This week, October 2nd – 6th, you can support the IPAW efforts in the following ways:
Plasma donation is extremely safe and performed by trained nurses in a clinical space. Not only will you give the gift of life, but in the United States, you’ll also be compensated for your time. Together, let’s save more lives!
As Newborn Screening Awareness month comes to a close, we want to extend a heartfelt thanks to you, our global PI village, for your constant support, kindness, and devotion to our ongoing efforts. You inspire us, motivate us, and encourage us to Do Something MORE each passing year.
Together, we will continue to promote the earliest possible diagnosis through newborn screening to save as many lives as possible. It’s our earnest hope that our community will continue to Do Something alongside us to ensure that as many suspected and diagnosed PI patients will have unrestricted access to proper diagnosis, treatment, and disease management, no matter where they live.
Let’s continue to work together to improve the quality of life for PI patients and families worldwide so that more people experience healthy, strong, and full lives!
Today, we are honored to celebrate our beloved son, Jeffrey Modell, on his birthday. As we look back, it was Jeffrey who created the passion for our work. His determination and courage were inspiring! Jeffrey never knew how he would change our lives, and the lives of so many thousands of children he would never meet, forever.
We created the Jeffrey Modell Foundation in celebration of Jeffrey’s life, and to give life. To all of the sons and daughters living with PI worldwide, know that our work is motivated by the opportunity to support you, advocate for you, and strive to find future cures for you.
Jeffrey taught us that to succeed in life you need three things: a wishbone, a backbone, and a funny bone. The wishbone is for the ideals, the goals, and the dreams; the backbone is for the fortitude and the courage to pursue them, and the funny bone is for the laughter and tears that are necessary for the little bumps along the road.
We encourage you to watch our documentary, Do Something: The Jeffrey Modell Story, to learn more about how Jeffrey inspired us to Do Something and get involved. It is thanks to you, our global PI village, that we are creating a brighter future for children living with PI so that stories like Jeffrey’s become rare.
We created a brand-new word search all about Newborn Screening to help kids learn and have fun in the process! You can even print out a copy to share with your friends. Can you find these words?
Advocacy, Antibody, Awareness, Heel Stick, Immune System, Infant, Newborn Screening, Saves Lives
Check out our Instagram page @info4pi later today to find out the answers!
International Plasma Awareness Week (IPAW) is coming up! The tenth annual awareness campaign will be celebrated from October 2 – 6, 2023.
There is currently an increased need for plasma, and you can be the solution! Head to your closest plasma donation center during awareness week, or whenever you have time. You can find your nearest plasma donation center here.
Together we can continue to raise awareness about the importance of plasma for people living with PI and save lives. Learn more about IPAW here.
Ronnie was born on Mary 9, 2017 in California. After Ronnie and his parents were discharged from the hospital, they received a call from his physician sharing that he has tested positive for Severe Combined Immunodeficiency (SCID) in his newborn screening panel. Their physician told them to return to the hospital as soon as possible to confirm the results of the newborn screening test.
Once the family arrived at the hospital, Ronnie was admitted for confirmation testing. His test results came back positive for SCID, and thankfully, because of his early diagnosis, his physician immediately developed a treatment plan. One option would be to undergo a bone marrow transplant, with his father as a donor, to receive new, healthy cells. Ultimately, after more research and discussions with Ronnie’s physicians, his parents decided to proceed with gene therapy as his form of treatment.
The treatment was successful, and now Ronnie is happy and healthy, all thanks to the results of his newborn screening test! Watch the full video here: https://www.cirm.ca.gov/our-progress/video/stem-cell-gene-therapy-fatal-bubble-baby-disease-scid/.
We're halfway through Newborn Screening Awareness month! Today, we're delighted to share Charlie's newborn screening story through an interview with his mother, Jennifer. Charlie was the first newborn in the UK to test positive for SCID as a result of newborn screening. Today, Charlie is healthy and happy and loves to play outside! His story demonstrates just how important newborn screening is.
When was Charlie diagnosed?
Like all babies in the UK, Charlie’s midwife came to visit him at home on day 5 post-birth. He was thriving. Gaining weight through breastfeeding and very alert. His midwife took blood for his heel prick test. I thought nothing of this test and wasn’t worried about the result especially because Charlie is our second child and I naively thought he would be healthy.
10 days after the heel prick, I received a phone call from a consultant at our local children’s hospital. He explained that Charlie needed to have further tests ASAP, as he had tested positive for a condition called Severe Combined Immunodeficiency (SCID). Charlie’s dad, Dom, and I were extremely shocked and worried. We took Charlie to the hospital the following day. We tried not to read too much about the condition, so we were unaware at this point how seriously unwell Charlie was.
The team at Manchester Children’s Hospital was extremely helpful. They explained Charlie’s positive heel prick result and took him to have blood taken to confirm the SCID result. The team explained that SCID is a genetic condition whereby babies are born without a working immune system. Without treatment, Charlie would be unable to fight off bacteria and virus meaning he would get very sick and potentially die. The team explained what the next steps would be if Charlie was positive: he would need chemotherapy and a bone marrow transplant with the hope the new stem cells would engraft and give him a working immune system.
What was it like to find out the results of his SCID screening? How long did it take for him to receive treatment?
We both convinced ourselves Charlie would be fine, so went home to wait for the results. Charlie’s consultant called the same afternoon to confirm he had tested positive for SCID. The consultant explained that Charlie would need to be immediately transferred to the Great North Children’s Hospital in Newcastle to start transplant arrangements.
To hear the result of SCID and to learn he would need a bone marrow transplant was heartbreaking. I was advised to stop breastfeeding Charlie until my blood had been checked for viruses as it could potentially make him very sick. The more I read about SCID the more concerned I became. It felt like the whole world and everything in it could make my baby very sick. Strict isolation and good infection control measures were essential to ensure Charlie didn’t catch anything before his transplant.
The next day we travelled three and a half hours up to the Great North Children’s Hospital. Once we got there, we were instantly put at ease. The hospital ward there is also known as ‘The Bubble Foundation’ are extremely specialized in SCID. They taught us infection control for things such as diaper changing, started Charlie on prophylactic antibiotics, and showed us the air filtered room where Charlie would stay throughout the transplant process. The amount of hand washing on the ward to keep the children safe was insane, but essential.
Alfie and Dom had blood taken to check if they were a match for Charlie’s bone marrow transplant. Later that day we went home to strictly isolate until a donor had been identified. Unfortunately, Alfie wasn’t a match, but Dom was a good half match so could be Charlie’s donor.
Three weeks later Charlie was admitted to the hospital and started chemotherapy conditioning when he was just six weeks old. A week later, on Thursday, November 25th, 2021, Charlie had his bone marrow transplant. By some miracle we had managed to get him to his transplant infection free!
Thankfully, my bloodwork was clear, so I was able to continue to breastfeed Charlie. To our disbelief, Charlie maintained his happy, cheeky little self throughout the transplant. He suffered with mucositis and very bad sickness but still wanted to breastfeed throughout. We were extremely relieved when on day 11 post-transplant we were told Charlie’s neutrophils were starting to show, meaning the transplant was taking. By day 14, his cells had engrafted, and we were able to start taking him for short walks out of the hospital.
We stayed in the hospital for a couple more weeks following this to allow the cells to continue to develop. Charlie also needed time to recover and gain weight. All the sickness had meant he lost a lot of weight, and because he was a newborn, he didn’t have much to lose.
By some miracle, Charlie was well enough to be discharged from the hospital ward four weeks post-transplant on Christmas Eve. He moved into the parent’s accommodation with us, and we saw the outpatient team every other day for medicines and line flushes for four weeks.
One of the hardest parts for me and Dom was leaving our eldest son Alfie behind with his grandparents back in our hometown three hours away from the hospital. We wanted him to continue to attend school, but this posed a risk of virus and infection to Charlie, so we decided to limit our contact with Alfie throughout Charlie’s transplant. Not seeing Alfie was extremely hard, especially with it being Christmas time. I wanted to be in 2 places at once but knew it was the right decision to keep Charlie safe and well.
After two months in Newcastle, Charlie was discharged to go home. We were told his T cells wouldn’t show themselves for another two months at least, so isolation and infection control measures were essential. I moved myself and Charlie into my parent’s house to keep him safe, and visited Alfie at parks in the fresh air when I could. Charlie continued to be on prophylactic antibiotics and had biweekly immunoglobulin transfusions which contained antibodies to prevent him from getting sick.
How did you feel when he was cured?
It was huge relief when we visited the Great North Hospital in March 2022 at 120 days post-transplant to be told Charlie’s body was making his own T cells, which meant he would now be able to fight off viruses. His restrictions could be reduced!
By May 2022, Charlie was making his own T Cells and B cells, meaning the immunoglobulin transfusions and antibiotics could stop. In October 2022, just after his first birthday, Charlie had normal immune levels and was able to start receiving newborn vaccinations. If these had been given to Charlie as a baby, they would have made him very ill. Today, Charlie has just had his first live vaccine – a huge milestone!
Does Charlie have to undergo any treatments or visit any specialists today?
Charlie is now 18 months old, and he is your typical toddler. He attends nursery four days a week. He’s been swimming, visited farms and fed animals, played on the beach, slides down muddy slides, and loves to eat – even the bits that have dropped on the floor! He very rarely gets ill and hasn’t required any hospital stays since we got discharged.
Charlie is off all medicines and now only needs six-month reviews with the BMT team. He will have his blood levels checked yearly for life and we have our fingers crossed that his wonderful new T and B cells continue to work well for a very long time!
Why is it so important for you to share Charlie’s story with others?
The heel prick test to detect SCID at birth is only currently on trial in the UK and only in certain places. SCID started to be included in the heel prick test in some regions in September 2021. Charlie was the first baby detected via the heel prick test in the UK.
We will be forever grateful that the test was available. I had no idea I am a carrier of SCID. Without the test, Charlie would have got very sick before we realized there was a problem.
Take action! There are many ways to get involved and share the importance of newborn screening, this month and beyond:
Let's get involved!
International Plasma Awareness Week (IPAW) will be here before we know it! Get ready by purchasing our "Plasma Donors Save Lives" t-shirt, available now. Wear your plasma t-shirt during IPAW, October 2-6, to join us in raising critical awareness for plasma donation.
All proceeds will benefit our mission to improve the lives of people living with PI worldwide. Pick out your favorite color from our online store! We can’t wait to see you wearing your shirts.
Newborn screening saves lives—it’s that simple. By the end of 2023, nearly 42 million newborns will have been screened in the United States alone. Imagine what this number could be on a global scale if every country participated in a comprehensive newborn screening program?
Over the years, we’ve continued to expand our efforts globally to help diagnose, treat, and sometimes, even cure, as many newborns as possible. In 2007, we agreed to fund half of a pilot program in Wisconsin to screen for SCID. The pilot began in January 2008 and tested 10,000 newborns. During the pilot, one child, Dawson Bornheimer, was identified with SCID and then cured, which motivated us to continue working state by state until all 50 states, Washington D.C., Puerto Rico, and Navajo Nation implemented a comprehensive screening program in 2018.
Now, more than 15 other countries are conducting population screening across the globe, and even more are conducting screening in select areas. New pilot programs are being regularly introduced, and we will continue our advocacy and awareness efforts to share about the importance of newborn screening!
See if your country participates in a newborn screening program on our website. The best way to Do Something is to use your voice – if your country doesn’t participate yet, speak up to encourage action!
Did you know that newborn screening is one of the most successful public health programs worldwide?
According to the Centers for Disease Control and Prevention (CDC), more than 12,000 infants receive life-saving treatment each year as a result of newborn screening.
In the United States, approximately 1 in 300 newborns have a condition that can be diagnosed through newborn screening.
Nearly 4 million newborns are screened annually in the U.S. alone— imagine what that number could be on a global scale if every country participated in newborn screening? Early diagnosis is key to providing lifesaving treatment--newborn screening saves lives!
Today kicks off Newborn Screening Awareness month! For years, we lobbied in Washington D.C. to add Severe Combined Immunodeficiency (SCID) to the national newborn screening panel. Without proper diagnosis, life expectancy for SCID patients is only one year. We appeared before the US Congress and continued to advocate--we were determined to help and educate as many families as possible.
In 2007, we agreed to share the costs of a pilot program to screen newborns for SCID in partnership with the state of Wisconsin. The pilot program began in January 2008 and 10,000 newborns were tested. Based on the success of the pilot, Wisconsin officially adopted SCID for Newborn Screening. This was just the beginning!
We kept sharing our story, speaking to families, and lobbying whenever we could. In 2010, the US Secretary of Health and Human Services recommended SCID to the National Core Panel. It would be the first addition in twelve years! We were thrilled, until we found out that this was just a recommendation—we would still need to convince each state individually. So, we kept pushing.
Finally, in 2018, NBS for SCID was implemented in all 50 states, Washington D.C., Puerto Rico, and the Navajo Nation. By the end of 2023, nearly 42 million babies will have been screened in the United States alone!
There are now several countries conducting population screening for SCID, including Austria, Belgium, Brazil, Denmark, Germany, Iceland, Ireland (ADA SCID only), Israel, Lebanon, New Zealand, Netherlands, Norway, Russia, Singapore, Sweden, Switzerland, and Taiwan. Pilot programs are currently underway in Chile, China, Czech Republic, France, Japan, Poland, Saudi Arabia, South Korea, Spain, Turkey, Ukraine, and Vietnam.
Stay tuned this month for more updates and stories about our Newborn Screening efforts worldwide!
For the past few months, we’ve been hard at work on a big project behind the scenes…our new PSA campaign!
Inspired by the opportunity to grow up and pursue your dreams while living with Primary Immunodeficiency, two of our new PSAs are an evolution of the When I Grow Up campaign that you all know and love. We will also be welcoming a new When I Grow Up character to our global PI village. We worked with an amazing team to make our visions a reality, and we can’t wait to share everything with you soon!
Check back here and on social media in the coming weeks for the official launch of our new PSAs.
For our next edition of JMF Defined, we're sharing a detailed description of “NEWBORN SCREENING.” Newborn Screening Awareness month begins later this week!
“NEWBORN SCREENING” takes place when an infant is just 24-48 hours old. A blood sample is taken from the infant’s heel and sent on to a laboratory for testing. In the United States, each state has a specific list of disorders that are tested for, in addition to the national core panel of 31 congenital disorders. If Severe Combined Immunodeficiency (SCID) is included in the panel, it will be included in the results of the NEWBORN SCREENING tests.
Based on the results of NEWBORN SCREENING, parents and their baby may be referred to a specialist(s) for possible further testing or to coordinate the course of treatment.
You can learn more about the core panel here.
Today we're pleased to share our most recent Q&A about attendee experiences at global immunology meetings. Education is an essential part of our mission, and we are honored to provide grants that support travel as part of our WINRN program.
Rachael Scott, DNP, received a WINRN grant to support her attendance at the Clinical Society for Immunology (CIS) meeting this past May. We hope you enjoy our interview!
Please share a brief overview of your career and current work. What made you interested in immunology?
My career in healthcare began in 2012 as a Registered Nurse. I initially cared for adult transplant patients and then transitioned to pediatrics as an Operating Room circulator. In 2017, I joined the transplant team as a Pediatric Renal Transplant Coordinator. During my time with the team, I sought to further my education and graduated in 2022 with my Doctor of Nursing Practice degree with a focus on Primary Care. I was fortunate to join Dr. Chaimowitz’s Immunology team in October 2022.
When I reflect on my healthcare career, there have always been threads of immunology connecting and guiding patient treatment and outcomes. Working alongside the transplant team coupled with my advanced education only provided a superficial look into the realm of immunology. I wanted to take a deep dive and learn about clinical immunology and how it applies across various patient populations. Additionally, the Immunology department is actively engaged across the hospital system and specialties, part of a larger community functioning as a multidisciplinary team.
Why did you want to attend CIS?
As a new member of the Immunology community, I sought to participate in an international conference that would allow me to learn about the latest advances and current research in the field. Additionally, attending CIS afforded me the opportunity to interact with colleagues from different parts of the world. CIS gathers the most renowned clinicians and scientists who work in the latest advances in clinical management, genetics, and pathophysiology of Clinical Immunology.
What was your biggest takeaway from attending CIS?
In my opinion, attending lectures, seminars and poster presentations covering various topics related to clinical advances and networking with colleagues were the most valuable parts of CIS. The key message for me was that establishing collaborative networks is of essential importance in the care of rare primary immunodeficiencies. I believe I may have been one of the few Immunology Nurse Practitioners at the conference; it was an absolute pleasure to be welcomed to such a rapidly growing and thriving community.
How will you take what you learned at the CIS conference and apply it to your daily work? Is there a specific research effort or development in the field of immunology that you’re particularly excited about?
Attending the sessions for ReThymic/ thymus transplantation were truly eye opening. The hospital I serve is working to become a future site for transplant and dually aim for JMF designation in order to close the gap between diagnosis and transplant. Right now, patients here in the US are passing away before gaining insurance approval for thymus transplants.
Do you have any advice for first-time conference attendees?
Prepare to be welcomed by a thriving and compassionate community. There are so many sessions to choose from, you could easily be engaged from early in the morning until late in the evening. Bring a laptop or pen and paper so you can follow along with the lectures and retain information. I always had my phone ready to snap an image of a slide I felt was vital to my understanding of the material.
What is the most rewarding aspect of your career?
Watching our patients grow and refuse to allow their immune deficiency to define them or dictate their path in life. Observing patients set goals and achieve their dreams. The patients and their families keep me fueled ready to learn, diagnose, treat, and advocate.
Is there anything else you’d like to share with our community?
First, I must emphasize the opportunities that these grants provide. Given the various ongoing economic crises that continue to affect the healthcare community on a global scale, financial aid is of absolute importance to promote collaborative networks and boost education of young health professionals. Without the assistance of the Jeffrey Modell Foundation, these events, advancements, and positive outcomes would not exist.
One of our main goals when we started the Foundation was to encourage a network so that people living with PI would have a built-in community of friends. Our friends support us in good and bad times and are always there to lend a listening ear or helpful hand, and comfort us in many ways.
For some of us, friends are our family, people we meet at school, at an activity, or through a club. Sometimes, a pet may be our best friend! No matter who your friends are, when you share and spend time together, you can Do Something MORE!
This Sunday, August 27 is National Pet Day. Join us in celebrating all forms of friendship by sharing a photo with your pet (or other friends!) on social media and thanking them for their friendship. Don’t forget to tag us @info4pi so we can share your photos and messages!
We’re excited to share our latest #WeArePI collaboration with the Immune Deficiency Foundation (IDF): How do you prepare for a new school year?
Primary Immunodeficiency is unpredictable and often requires planning ahead. Visit our Instagram page today @Info4PI and leave a comment to share your best tips and suggestions for how you prepare for a new school year. We’ll gather everyone’s recommendations and share them later this month!
Don’t forget to tag us @Info4PI and @IDFCommunity, along with #WeArePI so we can share your responses. We can’t wait to read your ideas!
We know that so many of you are getting ready to head back to school, so now is a great time to stock up on your JMF merchandise!
All of the proceeds from our online store will benefit our programs and support our ongoing mission to improve the lives of people living with Primary Immunodeficiency (PI) around the globe. Carry your books around in your JMF tote bag or write down ideas in your JMF notebook! There's an option for everyone to show their support and encourage PI awareness.
Check back in a couple of weeks for new merchandise coming soon.
Today is National Radio Day! Did you know you can listen to the radio versions of our Public Service Advertisements on our website?
Our PSAs are an important part of our awareness efforts to educate more people about Primary Immunodeficiency and encourage the earliest possible diagnosis. We hope you feel inspired when you hear them on the radio!
As National Science Week comes to an end, let's review everything we've learned this week. Don't forget to share with a friend or on social media!