The Jeffrey Modell Foundation is proud to organize our Kids with Immune DeficiencieS (KIDS) Day program each year. When we started the Foundation, one of our priorities was to make sure that no other child living with Primary Immunodeficiency would have to be alone.  

We created KIDS DAY in 1988 to provide people living with PI an all-expense paid day of community, connection, and most of all, fun, in a casual environment. The program was started for our JMF Kids, but now we’re delighted to include patients from ages 0-102 so that everyone has the opportunity to share experiences, stories, and form lasting connections!

Our 2023 KIDS DAY Extravaganza events will be kicking off soon! Past KIDS DAY events have included trips to the zoo or aquarium, baseball games, virtual tours of museums, movies, and more. We encourage groups to think of their own ideas for a fun day, either in-person or virtually.

Ask your immunologist or nurse if they participate in KIDS DAY! No KIDS DAY near you? Ask your care team to contact us at info@jmfworld.org to learn about ways for your community to enjoy a day of fun in a safe setting.

We’re excited to share this month’s #WeArePI challenge: How did your life change after diagnosis?

Over the years, many of you have shared your story with us. This month, we challenge you to share how your life has positively changed after receiving a proper PI diagnosis. 

We’ve posted a template in our Instagram stories for you to screenshot and use to share your own story. Please be sure to share on Instagram all month long!

Don’t forget to tag us @Info4PI and @IDFCommunity, along with #WeArePI so we can share your responses with our community! 

On International Women’s Day, we are proud to celebrate the extraordinary accomplishments of our very own Vicki Modell, co-founder of the Jeffrey Modell Foundation. Vicki is a strong, courageous, and empathetic leader, and has dedicated her life to the Primary Immunodeficiency community by forwarding our mission of hope, advocacy, and action.

Today we would like to recognize Vicki’s years of leadership, stewardship, and mentorship for future generations of physicians, nurses, scientists, researchers, patients, families, and more. We hope you enjoy our interview with Vicki and feel inspired to Do Something to support the women in your life.

1. You are a respected leader in the field. What do you hope the global PI community learns from your experience and expertise?
   What I hope to impart to the world is that you can take your grief, personal loss of dreams, and loss of your child’s dreams, and do everything you can to make sure that others have the chance to dream and live full lives. 
   
   We’ve always advocated for earliest possible diagnosis and better access to treatment, and I’ve never taken “no” for an answer. Sometimes it might be a “maybe,” but I never accept a “no.” I have continued to persevere and advocate for what I know I believe in, which will hopefully lead to access to appropriate treatments throughout the world. 
   
   To be successful as a patient or advocacy organization, I think it’s very important to include components such as research, education for physicians and the general public, advocacy with government, and patient support programs so they have what they need along their journey.
   
   Any success that I have had is because of the physicians who lovingly care for their patients, the nurses who administer their treatments, the pharmaceutical companies who have believed in us, trusted us, and supported us, the unsung heroes working in their labs day and night looking for discoveries, our incredible staff at the Jeffrey Modell Foundation who take our thoughts and our goals and turn them into reality, and of course, the patients, who compel us and inspire us to do more and to be better. 
    
2. What is your proudest moment to-date?
   There have been so many moments that have been incredibly important over the past 35 years. My proudest moment was during the first pilot for newborn screening for SCID when a baby boy in Wisconsin was discovered to have a very rare, combined immunodeficiency. He was screened and diagnosed, and then received a stem cell transplant which, ultimately, cured him. 
   
   We were invited to fly out to Wisconsin to meet him and his family, and were there on the day that he received his transplant. Coincidentally, the transplant was scheduled on Jeffrey’s birthday. Not only did this little boy get a second chance at life, but I feel as if Jeffrey gave him life, and so does his mother. We’ve stayed in touch and grown very close to the family. Now he’s a healthy 15-year-old playing football on his high school team!
    
3. As a mother, what advice would you share to parents and families faced with a new PI diagnosis?
   My recommendation to parents and families is to not let your child be defined by their disorder. Thanks to today’s incredible scientific progress and constant new discoveries, it’s important to prepare your child for adulthood. Encourage them to fulfill their own dreams and live a life that’s as normal as possible! 
    
4. How do you think Jeffrey would feel if he were here today to see the impact the Foundation has had on the lives of people living with PI?
   I think Jeffrey would say, “Who, me? My name on global research projects and scientific buildings? I asked you to Do Something and you did.”
    
5. What message would you like to share with the women in our global PI community?
   Over the past 35 years, whenever I would travel the world and visit a new country, the common denominator was that women and mothers all love their children in the same way. No matter their ethnic or religious background, I would notice their love for their children, which is unlike any other love. 
   To all of the women who I’ve met, and those who I have yet to meet, my wish is that you can put your head down at night and feel hopeful and unafraid of the morning.
    
6. What do you hope the future of the Foundation looks like?
   It’s my hope that the Foundation will continue on its path with an enhanced vision to keep up with the medical and scientific discoveries that are sure to come. 
   
   My dream is that newborn screening for SCID and other Primary Immunodeficiencies will be approved in every country throughout the world, because it absolutely saves lives. 
   
   My other hope for the future is that gene sequencing will become routine for every child waiting for a diagnosis to lessen the burden of the diagnostic odyssey.
   
   My hope for the future is that every child, wherever they live, should have a future. I’ll end with one of my favorite quotes: “Life is not about waiting for the storm to pass; it’s about learning to dance in the rain.”

Our body’s number one defense from infections, germs, bacteria, and parasites is our immune system. Our immune system works 24 hours a day, 7 days a week to keep us healthy and strong! However, some people are born with an immune system that doesn’t function as well as others, which may be due to a Primary Immunodeficiency (PI). 

Not sure why you’re feeling sick? Be sure to review the 10 Warning Signs of Primary Immunodeficiency, now available in over 50 languages. If you or someone you know is affected by two or more of the following warning signs, speak to a physician about the possible presence of an underlying PI.

To learn more, read about how the different parts of the immune system work together in children and adults on our website. 

Welcome back to the March issue of Updates from the Lab! We are thrilled to share our most recent sequencing updates, breaking news, and information about our research programs. 

“Jeffrey’s Insights” Genetic Sequencing Program
As of January 2023:

• Total of 3,754 patients tested (US - 889, INT – 2,874)
• Total  variants identified: 22,850

Breaking News 
Last month we announced our collaboration with Veritas, a letsgetchecked company, which aims to increase genomic diagnosis in the field of immunological disorders. Read the full press release here.

“We are excited to begin our journey with Veritas to enhance our gene sequencing program and continue to give hope, improve the quality of life, and in some cases, cure children with PI worldwide.” – Vicki and Fred Modell, Co-Founders, Jeffrey Modell Foundation.

Translational Research Program
Applications for Cycle 11 of our Translational Research Program are now open! Learn about how to submit your letter of intent before March 14. 

Specific Defect
The goal of the Specific Defect program is to support research that studies the mechanisms and presentation of specific defects of the immune system to gain a better understanding of the defects and their impact on overall health outcomes. Awards are granted on a rolling basis throughout the year. Each award amounts up to $50,000 over a two-year project period, with a maximum of $25,000 per year. Apply here.

c.h.i.l.d.r.e.n!
The purpose of the of c.h.i.l.d.r.e.n! grant is to support research focused on children living with PI throughout the world, while addressing healthcare disparities, especially in developing countries, through education, testing, diagnosis, and treatment. Awards are granted on a rolling basis throughout the year. Each award amounts up to $25,000 per year, for up to two years, per grant, following peer-review and approval. Apply here.

Today is Rare Disease Day, the rarest day of the year! We are proud to spotlight the over 300 million people worldwide living with a rare disease, and hope you'll continue to join us on our mission to support rare disease patients worldwide by providing hope for a better future.

Rare doesn’t mean alone. We invite you to learn more about our family’s experience of living with Primary Immunodeficiency by watching our documentary Do Something: The Jeffrey Modell Story. Despite living through loss, Fred and I turned to each other and found the strength to fulfill our promise to Jeffrey and resolved to “Do Something” by creating the Foundation in his memory.

Thanks to Jeffrey’s pleas for us to “Do Something,” millions of lives have been forever changed throughout our thirty-six years of work supporting the PI community. Watch the documentary on our YouTube channel, or find it in 7 languages online. 

We hope you’ll share the film with your family, friends, and social media connections to promote better awareness about rare diseases like Primary Immunodeficiency. We hope you enjoy and learn something from our story! Together we can Do Something MORE.

Tomorrow is Rare Disease Day, the rarest day of the year! We hope you’ve enjoyed learning more about the rare disease community over the past few days. To round off the week, we want to share a few statistics with you that are easy to distribute to your own community:

• A disease is considered rare when it affects fewer than 1 in 2,000 people.
• There are 300 million people living with a rare disease worldwide.
• To date, 7,000 rare diseases have been identified across the globe.
• 72% of rare diseases are genetic, including Primary Immunodeficiency.
• 70% of rare diseases start in childhood.

Looking to improve awareness? Read and share the 10 Warning Signs of PI, available in over 50 languages, or any of our patient support programs detailed on our website.

Did you know that it takes an average of 6-8 years for patients living with a rare disease to be properly diagnosed? We established the Jeffrey Modell Centers Network to help put an end to an often lengthy diagnostic odyssey and improve treatment and care options for patients living with PI around the world. 

Some rare diseases share common symptoms, which may impact the diagnostic odyssey and leave patients and families confused or uncertain when they are simply searching for answers. This is why one of our first projects was to create the 10 Warning Signs of PI, now available in over 50 languages. It’s our hope that by spreading awareness and educating more people about rare diseases like PI, there will be more opportunities to provide patients and their families with a sense of relief, improved quality of life, and a chance to better understand their rare disease. 

Thanks to the remarkable advances in immunology and genetic sequencing, there are more options than ever to help ensure the earliest possible diagnosis and the chance to live a full life! Today, we work with physicians and researchers at over 400 institutions in 88 countries—and we’re still growing. 

Searching for answers? Find an expert immunologist near you.

To kick off Rare Disease Week 2023, we thought it would be helpful to provide a brief overview of rare diseases and answer some frequently asked questions. 

A rare disease is defined as, “a disease or condition that impacts a small amount of the population with symptoms that may vary patient to patient.” 

What unites the rare disease community is often a lack of scientific knowledge or research about certain diseases that may result in a lengthy diagnostic odyssey. We’ve proved time and time again that early diagnosis may prevent future infections and improve quality of life, but we know it can be difficult to secure a proper diagnosis for certain rare diseases. This is why it’s so important to be your own best advocate—speak up and speak out! Read and share the 10 Warning Signs of PI in more than 50 languages, the 10 Warning Signs of CGD, and the 10 Warning Signs of WHIM.

The majority of rare diseases are genetic—72%—including the nearly 500 Primary Immunodeficiencies. When you look at the big picture, rare diseases aren’t so rare: there are 7,000 rare diseases that impact an estimated 300 million people worldwide! This group represent between 3.5 – 5.9% of our global population, and yet there are still so many people who have never heard of their rare diseases. 

Sharing your experience with friends and family, and others outside of your community, is a great way to spread awareness, educate others, and encourage a better understanding about your rare disease. We can do so much more when our community comes together to support our cause! Check back later this week for another Rare Disease Week post, and be sure to follow us on social media #Info4PI.

Today we’re excited to announce the first monthly challenge of our #WeArePI campaign: How do you explain living with a rare disease to people who don’t understand it?

We challenge you to share how you’d respond to the challenge question and explain your answer to people outside of the community who may not understand what it’s like to live with a rare disease. 

Create your own social media post and share it on Rare Disease (February 28) day by tagging us @Info4PI, the IDF @IDFCommunity, and our challenge hashtag #WeArePI so we can see your responses. We’ll share your posts throughout the day to help raise awareness and spark conversation!

We can’t wait to see your challenge posts—share your story and invite others to get involved!

February 22 – 28^th, 2023 is Rare Disease Week! We hope you’ll join all of us at the Jeffrey Modell Foundation in our ongoing efforts to educate our global community, spread awareness, and advocate for rare diseases.

Rare diseases aren’t so rare: they impact an estimated 300 million people worldwide and 72% of rare diseases are genetic. Primary Immunodeficiencies alone are estimated to affect at least 10 million people globally, and for years, we’ve seen how our community persistently advocates for themselves and their peers despite the challenges they may face.

Throughout the week we’ll be sharing new educational resources and narratives about the importance of proper diagnosis and treatment, access to care, ongoing research efforts, and ways to get involved to support the rare disease community. 

Rare Disease Week ends on February 28^th, the rarest day of the year! We hope you’ll join us on our mission to spotlight rare disease patients worldwide and provide hope for a better future. Be sure to check back for more updates later this month. 

We are pleased to announce our new collaboration with the Immune Deficiency Foundation (IDF) that aims to encourage the Primary Immunodeficiency community to raise awareness, share stories, and invite others to get involved through monthly challenges!

The #WeArePI challenge launches today. Every month, we’ll provide you with the tools and information to get involved, share your story, and take action to spread awareness for PI. We hope you’ll participate each month! Be sure to check out our Instagram @info4pi today for more details about the challenge and share the announcement video on your own profile to show your support. Don’t forget to tag us at @info4pi, the IDF @idfcommunity, and our challenge hashtag, #WeArePI so we can see your posts.

Keep an eye on our social media profiles for our inaugural challenge which will be announced during Rare Disease Week at the end of the month. We can’t wait to see your challenge posts!

We are proud to celebrate the 8^th annual International Day of Women and Girls in Science (IDWGIS)! Please join us in honoring the extraordinary and brilliant women in our global community who make a difference in the lives of patients and families each and every day, inspiring generations to come.

The theme of the 8^th IDWGIS assembly is Innovate. Demonstrate. Elevate. Advance. (I.D.E.A.). IDWGIS aims to bridge the gap between the global community and women and girls in STEM fields, as well as strengthen the ties between science, policy, and society for strategies that are oriented towards a more equitable future. 

It takes a village to make a difference, and none of the remarkable milestones that the Foundation has achieved would be possible without the brilliant women in our Jeffrey Modell Centers Network, who are physicians, researchers, scientists, nurses, patients, and family members who constantly strive to make a difference. We aim to empower and encourage women and girls in our community who are working around the world to create a brighter future for people living with PI.  

If we all work together to celebrate innovation, encourage a more inclusive environment, and increase the opportunities available to young women, imagine what our future might look like? Today, and every day, we celebrate and extend a huge “thank you” to all of the women and girls around the world working and dreaming to change the future of PI! 

Above all, we at the Jeffrey Modell Foundation are dedicated to supporting our global patient community. It’s our goal to make life easier, reduce burdens, and enable as many people as possible to enjoy a better quality of life.

We are proud to share the vast number of patient resources available on our website that serve as guides at any stage of your journey with Primary Immunodeficiency. Below, we’ve compiled a list of our top-requested resources that encourage earliest possible diagnosis, education, and expert care. These resources can be shared with parents, friends, school communities, and anyone else you think would benefit from learning more about PI:

• Need an immunologist? Find an expert near you on our interactive world map.
• It can be overwhelming to understand the unknowns of PI. Our FAQs can point you in the right direction. 
• Curious about your specific defect? We’ve compiled a list of specific types of PI to encourage better understanding of your disease.
• Looking for activities and community support? Find a patient organization(s) in your region or apply for a WIN grant.
• A great way to educate your friends, family, and peers about PI is by watching our documentary “Do Something: The Jeffrey Modell Story,” now available on YouTube.
• Have a question about your pharmaceutical product(s)? Find patient guides and resources from our pharmaceutical partners here. 
• Our “Roots & Wings” program provides travel support to patients and their families who may require medical treatment and care far away from home. Learn more about how to apply here. 

It’s our hope that these materials—which are updated frequently—will help to improve PI management, care, and ultimately, save more lives. Please share them with your own community!

An essential part of our mission is creating and disseminating useful educational materials that can be used by all physicians and researchers, nurses, residents, post-doctoral fellows, and other immunology specialists to encourage awareness and knowledge about Primary Immunodeficiency within the healthcare workforce. This group of professionals is the first line of defense, and they play an essential role in helping people living with PI to stay healthy, educated, and safe!

Our resources can be shared with parents, friends, school communities, and families, to help recognize the warning signs and encourage proper diagnosis and expert care. 

It’s our hope that these materials—which are updated frequently—will help to improve PI management, clinical recognition and care, and ultimately, save more lives. Read, download, and share them from our website. Together, we can help to spread awareness and encourage better PI education! 

Did you know that there are more than 450 unique Primary Immunodeficiency disorders that impact the immune system? Primary Immunodeficiency can be difficult to diagnose, which may result in a lengthy diagnostic odyssey when you and your family are simply searching for answers. 

To help ease the diagnostic journey, we have compiled a list of specific disorders on our website, available here. Our mission is to reduce the diagnostic odyssey so that people living with PI can avoid interruptions at work, school, and other important areas of life. Thanks to the remarkable advances in immunology and genetic sequencing, there are more options than ever to help ensure the earliest possible diagnosis, personalized treatment options, fewer and less severe infections, and the chance to live a more hopeful and full life! 

Be sure to check out the 10 Warning Signs of PI in more than 50 languages if you or someone you know is experiencing repeated infections. Always remember to consult with your physician about your diagnosis or to answer any questions about your specific case. Need an immunologist? Find one here!

Did you know that plasma can’t be made in a lab? Donated plasma from healthy donors is used to create lifesaving treatments for people living with PI to help their immune systems stay healthy and strong!

Every year it takes over 130 plasma donations to treat just one patient living with PI. Plasma donation is performed by trained nurses and takes, on average, less than an hour to complete the procedure. If you live in the U.S., you’ll even receive compensation for your donation!

For people living with a PI, plasma may be the difference between life and death. Want to learn more about the importance of plasma donation? Read our interview with Dr. Pere Soler- Palacín, Director of the Jeffrey Modell Diagnostic and Research Center in Barcelona, Spain. 

Find a plasma donation center near you today to provide a life-sustaining and lifesaving treatment for people living with PI around the world. Our community thanks you!

To kick off the new year, we're pleased to share a new installment of our interview series about attendee experiences at global immunology meetings. Our WINRN travel grant provides funding to nurses that supports travel to key meetings that highlight Primary Immunodeficiency. It’s our hope that this grant enhances nurse education, awareness, and encourages new connections and collaborations with colleagues across the field.

Gráinne O’Toole is a Senior Research Nurse of gene therapy at the Great Ormond Street Hospital for Children in London, England. Gráinne received a WINRN grant to support her attendance at the European Society for Immunodeficiencies (ESID) last October. We hope you enjoy reading about her meeting experience!

1. What made you interested in immunology? Please share a brief overview of your career and current work.
   As with all my career choices so far – I kind of fell into immunology. I have worked for 8 years in children’s cancer nursing, and an opportunity to work as a research nurse in gene therapy came up In London. I’ve seen how newer treatments have provided treatment options to patients where none were previously available, and I wanted to involved with research at this stage. It’s a complex specialty but there’s lots to learn and really exciting treatments being developed for these conditions. 
    
2. Why did you want to attend ESID? 
   ESID has a large representation of immunology experts from medical, scientific, patient and nursing immunology fields. It has a large amount of knowledge available for those who attend. I really like that patients and families have such a strong representation at this conference also. 
    
3. What was the biggest takeaway of attending ESID? 
   I’m really excited to look further into patient experiences of treatment. We’ve learned a lot over the past few decades that psychosocial supports are as important to patients especially children, and I would love to highlight this in the PID population so we can ensure adequate resources are allocated for patients and their families for this type of care. 
    
4. Is there a specific research effort or development in the field of immunology that you’re particularly excited about?
   As I’m working in gene therapy, it’s naturally the area where I have the most interest. 
    
5. How will you take what you learned at the ESID conference and apply it to your daily work?
   I made some really good contacts with several Immunology pediatric and adult hospitals. Much of the focus of INGID presentations was on psychological supports and transition, and we plan to adopt some of the templates discussed to our patient care to help improve transition to adult care. 
    
6. Do you have any advice for first-time conference attendees?
   Sounds really basic – but have a pen/paper because there’s no way you’ll remember everything you’ll have an opportunity to hear. If possible, scope out the program ahead of time to identify sessions that will improve your knowledge, but also select ones that may help broaden your view on a topic. AT ESID participants can attend INGID, ESID and IPOPI sessions which helps give different viewpoints. It is a really collaborative approach as we all have lots to learn from each other.  
    
7. What is the most rewarding aspect of your career?
   I love working with children. They are so resilient and even on a really tough day for them you’ll usually see them smiling through. I really enjoy working in these areas as you establish a good relationship with children and families as you nurse them throughout their treatment. 
    
8. Is there anything else you’d like to share with our community?
   There are lots of supports available to help learn more about immunology if people are interested—don’t be afraid to ask.

Happy New Year from all of us at the Jeffrey Modell Foundation! This year, our New Year's resolution is to Do Something MORE.

As we embark on our 36th year of operation, we look forward to continuing to strengthen our programs to better serve the global PI community. We’ll keep building on our momentum from last year to meet new challenges, seize opportunities, and continue funding scientific research that will improve the quality of life for patients living with PI around the world. 

We encourage you to kick off 2023 by donating plasma and giving the gift of life! Not only will you save lives, but you’ll also be compensated for your time if you live in the US. Find a plasma donation center near you. 

We look forward to connecting with new members of our global PI community throughout the year!

On these final days of 2022, we want to extend a heartfelt thanks to our community of friends who make our global PI village more remarkable each passing year. You inspire and motivate us, and constantly compel us to Do Something MORE! 

We’re reminded to not take one day for granted, celebrate each other, and support the causes we care about most. Please join us in celebrating Jeffrey’s legacy this year by becoming a plasma donor, donating to support one of our groundbreaking programs, purchasing a piece of JMF merchandise, or watching our documentary on YouTube with your family and friends. 

We are looking forward to beginning 2023 together as we continue to create brighter and healthier futures for PI patients and their families worldwide. 

From all of us at the Jeffrey Modell Foundation, we wish you and your family a new year full of hope and health!