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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.”
Click here to watch the film or visit dosomethingdoc.com to learn more.
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.
“But you don’t LOOK sick…"
How many times have you or your loved one heard this statement? Primary Immunodeficiencies are known as invisible illnesses, which means patients may experience common symptoms such as ear infections, sinus infections, and more, but they may not “look” sick.
Invisible illnesses are very real, and we encourage you to listen and offer support to your friends and family living with invisible illnesses so that they feel seen and understood. Ask questions if you’re curious or want to learn more!
Let’s work together to create a culture of kindness and support as we continue to advocate for early diagnosis and accurate treatment.
Today is World Caring Day! Now more than ever, it’s so important to show kindness and care for others.
Simply asking someone how they’re doing can make a world of a difference, especially for those navigating the diagnostic odyssey. Showing someone that you care about them can drastically improve their well-being and help them to not feel alone!
We encourage you to take a moment to recognize the people in your life who’ve made a positive impact with their compassion, hope, and empathy. We care about all of YOU! You motivate us to Do Something MORE each day.
We hope you’ll join us today by telling someone in your life that you care about them and thanking those who have cared for you!
The tenth warning sign of Primary Immunodeficiency is…family history.
Primary Immunodeficiencies are genetic, which means they run in the family and may increase the risk of inheritance. Tracing family history is a key step along the road to diagnosis and can be lifesaving! Be sure to let your physician know if there is a history of PI in your family to give more context to your medical care.
If you or a family member are diagnosed with PI, don’t forget to share your diagnosis and related health information with others. Ask your physician if genetic counseling would be appropriate for your family to learn more. You might save a life!
Today is Global Day of Parents! We are delighted to celebrate all of the parents and parent figures in our global Primary Immunodeficiency community who work tirelessly to advocate for their children.
Parents offer a sense of security, comfort, and hope during difficult times, and their unrelenting love and determination inspires us to create a better future for people living with PI worldwide.
In honor of Global Day of Parents, we encourage you to watch our documentary, Do Something, which is available in seven languages. Do Something tells the story about the resolve of two loving parents, Vicki, and Fred Modell, to save just one life by sharing their son, Jeffrey’s experience with PI. Jeffrey continues to inspire our work and motivate us to Do Something MORE at the Foundation every day.
Please join us in honoring our dedicated parent community by thanking the parents in your life today!
Newborn screening saves lives! We’ve proved it time and time again—with a simple test, more diseases can be identified, treated early, and sometimes, even cured. Many Primary Immunodeficiencies are asymptomatic at birth and may go undetected without proper testing.
We’ve seen success stories like Charlie’s, Dawson’s, and more, and we won’t stop advocating for newborn screening until severe combined immunodeficiency (SCID) is included on every newborn screening panel worldwide. There are currently 18 countries conducting population screening, six countries conducting screening in select areas, and many others who are piloting screening programs.
Looking to get involved? Use your voice to take action and speak to your representatives by using our template letter about adding NBS for SCID to your country’s newborn screening panel to save more lives. Over 40 million babies have been screened in the United States alone…imagine what this number could be on a global scale?
To learn more about our newborn screening efforts, read here.
We know that sometimes extra planning is required for children and families living with PI due to its unpredictable nature. To help you plan for different activities, we created a checklist of information to prepare and have on hand:
We are proud to share another edition of Updates from the Lab! We have been hard at work this year, and are pleased to share our recent breaking news, programming developments, and grant updates.
“Jeffrey’s Insights” Genetic Sequencing
Earlier this year we announced our new partnership with Veritas, a letsgetchecked company focused on genome and exome sequencing and clinical interpretation. Through this new collaboration, our “Jeffrey’s Insights” genetic sequencing program will continue to be available at no cost to all Jeffrey Modell Centers Network (JMCN) physicians with patients who are suspected of an underlying Primary Immunodeficiency (PI) or other inborn errors of immunity. Read the full press release here.
Pharming Group N.V. announces that the US Food and Drug Administration (FDA) has approved Joenja® (leniolisib), to treat the rare primary immunodeficiency activated phosphoinositide 3-kinase delta syndrome (APDS) in adults and adolescents 12 years of age and older in the US. Read the full press release.
Translational Research Program
Cycle 11 of the Translational Research program is underway. Letters of intent were submitted on March 16, and invited applicants will submit their materials by July 6, 2023. We are looking forward to reviewing applications in the coming months.
Specific Defect Research Program
Awards for the Specific Defect Research Program 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. Learn more or apply here.
c.h.i.l.d.r.e.n! Research Program
The c.h.i.l.d.r.e.n! grants are awarded on a rolling basis throughout the year. Each award amounts up to $25,000 per year, for up to two years, following peer-review and approval. The focus of this grant program is to investigate immunological disorders, infectious disease, initiatives to decrease infant mortality and ultimately improve the quality of life of children affected by Primary Immunodeficiency globally.
For some people living with PI, plasma may be the difference between life and death. But what exactly is plasma, and how does it help to save lives?
Plasma contains antibodies, water, salts, enzymes, and proteins, and makes up 55% of our blood. The antibodies are called immunoglobulins, which help to prevent illnesses and protect the immune system. Plasma is used to create several life-sustaining and life-saving treatments for patients living with PI and other rare diseases.
Did you know that plasma can’t be made artificially in a lab? It can only be gathered from healthy donors through an extremely safe clinical process performed by trained nurses. It takes 130 plasma donations to treat just one patient living with a PI for an entire year.
There is currently an increased need for plasma, and you can be the solution! Will you sign up to give the gift of life? Find a plasma donation center near you.
Your Family Doctor is the first physician you see from a young age, and they are on the first line of defense in recognizing repeated infections. It’s essential that Family Doctors are familiar with the 10 Warning Signs of Primary Immunodeficiency (PI) to ensure the earliest possible diagnosis, proper treatment, and improved quality of life!
In honor of World Family Doctor Day, we encourage you to “Spy the 10 Warning Signs of PI” in our online spy game by locating the corresponding image for each sign on the search page. Here’s a hint: look for matching colors! When you find a sign, click on it to learn more.
The game is available in multiple languages and is a great way to learn and play with friends! You can easily share the game on social media, in an email, or send a link to someone you know.
If you or someone you know is affected by two or more of the Warning Signs, speak to a physician about the possible presence of an underlying PI. Read the 10 Warning Signs in more than 60 languages here.
Want to learn more about Primary Immunodeficiency in a fun and interesting format? Check out the Funny Immunology book series written by several of our expert physicians! The books are available on our website in multiple languages, including English, Spanish, Portuguese, Russian, and Arabic, and share stories about the “Immunocytes,” who protect and defend our bodies.
We love reading about the different types of Immunocytes! Each book is lovingly written and full of creative graphics and engaging questions to check your learning. They are fantastic resources for patients!
Share the books with your friends, family, and be sure to check out our Instagram page today to get to know some of the characters better! We hope you enjoy reading about the Immunocytes.
In honor of International Day of Families, we’re sharing our tips for finding caregiver resources. We know that being a caregiver, whether for a child or adult, can be overwhelming at times. It’s important to find ways to adapt to changes in your life and ask for help when you need it. Call on your friends, family members, and stay connected to your community!
Social media is a great place to connect and communicate with other caregivers. You might find it helpful to share experiences, suggestions, and accept support from others in similar positions. Try searching Facebook for caregiver support groups where people share skills and experiences that they’ve gained over time. You may learn something new!
Local Organizations and Support Groups
Step outside your community to gain new perspectives! Search out for local organizations or support groups to connect with other likeminded people. These groups may encourage you to develop new ways to manage stress and frustration, prevent feelings of isolation, and identify valuable new contacts.
Blogs and Online Resources
Blogs (like ours!) offer valuable information, recommendations, and guidance for caregivers and patients alike. There are many online resources available to help to educate your community about your patient’s disease, quality of life, expected longevity, and more.
Be sure to pass along your knowledge and resources to other caregivers in your life!
Today is International Nurses Day! We are proud and honored to celebrate our often-unsung heroes, our nurses. Their expert skills, comforting presence, love, and tenderness provide a sense of calm and relief for patients and families along every step of the diagnostic odyssey. We share our profound thanks to all of the nurses working in hospitals, physician offices, schools, and administering treatments for their care, passion, and commitment to our Primary Immunodeficiency patients throughout the global Jeffrey Modell Centers Network.
Our nurses are the first line of defense in recognizing repeated infections among undiagnosed children, and they are the first faces our patients see, which greatly impacts their experience in physician offices, hospitals, and treatment settings. For so many, the diagnostic odyssey can be intimidating, but nurses are always there to provide encouragement to all patients and families, relentlessly devoted to their profession!
Please join us in sharing thanks to all nurses, today, and every day, who work tirelessly to reassure patients, put them at ease, and help to improve the quality of life for people living with PI worldwide!
Did you know that we have an entire section of our website dedicated to activities for kids? As a patient support organization, it’s always been important for us to encourage kids to find ways to unwind, have fun, and live life as normally as possible.
We created various activities for kids to get creative, learn something, and have fun! Try to Spy the 10 Warning Signs of PI, solve a Word JAM, play fun Immune System Games, and color the Global PI Village. These are fun and interactive activities to share with your kids, family, and friends. The activities are a fun way to share information about PI in an easy and creative way for kids and adults alike!
Feel free to come up with your own ideas too! Check out our Instagram page for even more activities and fun. We hope you enjoy and learn something new!
As WPIW 2023 comes to a close, we’d like to take this opportunity to share thanks to all of you, our global community of patients, families, physicians, nurses, and so many more, for your constant support as we strive to fulfill our shared mission. From all of us at the Jeffrey Modell Foundation, thank you for making this year’s WPIW so successful!
We are endlessly grateful for our community members who continue to support us as we spread awareness, advocate for PI patients worldwide, and provide hope for a healthy and happy future. We are honored to be a part of this community! We hope that our resources, ongoing education and awareness efforts, and messages of support help to relieve some of the pressures of the diagnostic odyssey.
Thank you again to our generous sponsors for their partnership in forwarding our shared mission to improve the lives of people living with Primary Immunodeficiency. Our ongoing partnerships enable JMF to grow our awareness efforts and support programs for our global PI community, and we look forward to continuing our collaborations for years to come. Together, we have, and will continue to create positive change for the community, and work towards pursuing a better quality of life for PI patients worldwide. We are extremely thankful for their support and devotion to the PI community!
As a reminder, you can view and download all of our regional toolkits on our website info4pi.org.
As we continue to celebrate WPIW and honor the patients, families, physicians, nurses, and so many other members of our community worldwide, we are delighted to feature our World Immunodeficiency Network (WIN), which was created in 2001.
We created WIN with the goal of providing support, encouragement, and funding opportunities to national and international patient organizations, physicians, and nurses to unite and strengthen the voices of the PI community. Over the past two decades, we’ve funded activities including symposia, family days, conferences, educational seminars, summer camps, newsletters, exhibit booths at conferences, and so many more!
WIN grants have been awarded to patient organizations in over 44 countries, including Argentina, Cameroon, Chile, Colombia, Denmark, El Salvador, England, Germany, Greece, Hungary, India, Ireland, Israel, Macedonia, Mexico, the Navajo Nation, Nicaragua, Peru, Romania, Slovenia, Spain, Uganda, Ukraine, Vietnam, and many more across the globe. You can view our complete list of global patient organizations on our website.
Interested in learning more about WIN programming? Click to read more and apply for funding.
Today we are thrilled to share a new spotlight interview with Fred Modell, co-founder of the Jeffrey Modell Foundation. Fred shared details about the history of World PI Week, the importance of awareness, and what he hopes people learn throughout the week. We hope you enjoy!
Why was it so important for you to make WPIW an official awareness week?
When Jeffrey was sick, no one had ever heard of Primary Immunodeficiency (PI). People were sick and no one had the answers to help them, so we wanted to go to the US Senate to create an awareness week (or month) to educate the public and physicians about PI and try to save lives.
You and Vicki spent years advocating for better PI recognition in DC. What was the process like? Who did you speak to?
Vicki and I first spoke to Senators Lieberman (CT) and D’Amato (NY) in 1993 about our idea to declare a Resolution to create an annual PI Awareness Week. They agreed to support our efforts, so Vicki and I went to Senate offices together to get as many Senators as we could to sign on as co-sponsors of the Resolution. Most of the staff members we spoke to had never heard of PI!
We ended up getting support from 29 Senators, but we didn’t have the numbers to pass the Resolution. Senator Lieberman told us to break into teams and go to 100 Senate offices again to tell Jeffrey’s story and share our work at the Foundation. We only had about 2-3 minutes per office to share our story! After three full days, we had 100% agreement from all Senators to co-sponsor the Resolution. Senator Lieberman took to the Senate floor to declare National Primary Immunodeficiency Awareness Week. We were so excited!
WPIW is now a global awareness event--the community has come so far over the years! What does WPIW’s extensive global reach mean to you?
When we first started the Foundation, we were focused nationally, but we continued to grow globally every year. Many global governments didn’t know about Primary Immunodeficiency, so we decided to expand our national awareness week on a worldwide scale to reach more people. That’s when it became World PI Week.
In terms of our global reach, I love to tell the story of our “Roots & Wings” patient who reached out to us from Mongolia in need of a match for a bone marrow transplant. Vicki got right to work, and reached out to our global network of physicians to ask if anyone might be able to help. Unbelievably, a match was found in Houston, Texas! The patient, a young child, was transplanted in Tokyo. This is a perfect example of how important our global reach is to help patients and families.
What do you think Jeffrey would say about WPIW if he were here today?
If Jeffrey were here today, he would say, “These are all young people like me. They aren’t alone!” Jeffrey never had anyone to talk to, and never met one other child living with PI. He would ask us and his doctors, “Isn’t there one other kid, anyone like me that I can talk to?”
If Jeffrey were here today, he would be glad that kids and their families have a close-knit community with common hopes and dreams and don’t have to be alone throughout their journey with PI.
What do you hope people learn during WPIW?
I want people to come away with HOPE. The reason we fought so hard for better awareness was so that people wouldn’t have to take no for an answer. All of our work is motivated by the opportunity to save one child at a time, one family at a time, and provide them with hope.
What is your favorite WPIW memory?
There are so many amazing memories, but one I think back on is our balloon launch at JMF HQ in New York City a few years ago. We gathered about 75 friends, board members, and donors on the sidewalk outside our office building to mark the occasion and show our dedication and commitment to patients worldwide. Members of the global Jeffrey Modell Centers Network joined in a simultaneous balloon launch in many countries all over the world! We are always so amazed and grateful when all of us come together to offer hope.
Pensamos que sería útil compartir un repaso para los nuevos visitantes y seguidores que quizás no sepan qué es la inmunodeficiencia primaria (IDP).
Las inmunodeficiencias primarias son un grupo de más de 450 trastornos del sistema inmunitario con diversos grados de gravedad. Nuestro sistema inmunológico es nuestra principal defensa para combatir infecciones, gérmenes, bacterias y virus, pero no siempre funciona para todos. Las IDP ocurren cuando una o más partes esenciales del sistema inmunológico no funcionan correctamente.
Las personas que viven con IDP se enferman con más frecuencia que otras y pueden experimentar infecciones frecuentes que afectan su calidad de vida. Por eso es tan importante asegurar el diagnóstico y tratamiento lo más pronto posible para evitar enfermedades más graves. El diagnóstico precoz y certero mejora la calidad de vida y previene posibles infecciones o enfermedades futuras. ¡Los pacientes pueden comenzar a recibir los mejores tratamientos posibles para mantenerse sanos y fuertes!
¡Esperamos que se una a nosotros en nuestra misión de destacar a los pacientes con PI en todo el mundo a través de WPIW y brindar esperanza para un futuro mejor!
As we continue our WPIW awareness work this week, we are delighted to share our recent interview with Jennifer Randle, a mother of two who lives with her family in the United Kingdom. Jennifer's youngest son, Charlie, was the first newborn in the UK to test positive for SCID as a result of newborn screening. Today, Charlie is a healthy and happy 18-month-old who loves to play outside! Please join us in thanking Jennifer for sharing her story with our community. We hope you enjoy reading about their experience and the importance of newborn screening!
Tell us about Charlie.
From the moment he was born Charlie has been a happy, cheeky, and very content little baby. A fabulous sleeper right from the start. He was born 6lb 5oz and came whizzing into the world in October 2021. He looked perfect! We took him home from hospital the next day to meet his big brother Alfie.
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.
In honor or WPIW, we wanted to highlight one of our JMCN physicians who has helped newborn screening for SCID become a reality in new regions of the world. Our global PI community is supported by so many devoted, caring, and brilliant physicians, nurses, and healthcare professionals!
Raz Somech, MD, PhD has been a key leader in promoting and confirming newborn screening for SCID in Israel. Now five years into Israel’s newborn screening program, over 937,953 newborns have been screened for SCID and no cases have gone undetected as a result. Patients diagnosed with SCID have been properly assessed, diagnosed, and treated accordingly, resulting in a 91% survival rate.
These incredible results would not be possible without the efforts and care of physicians like Dr. Somech! Please join us in honoring and thanking all of the immunologists and their teams for their essential contributions and ongoing dedication to PI patients and families worldwide.
Why is newborn screening so important for the Primary Immunodeficiency community?
There is nothing more valuable than saving a baby's life. The ability to identify a sick baby even before the appearance of his/her clinical symptoms is extremely important. Certainly, when it comes to life-threatening diseases such as SCID. Early detection leads to early treatment and the highest chance of success and have favorable outcome.
What do you wish more parents and families knew about newborn screening?
The purpose of SCID screening is to identify a disease that can be successfully treated if diagnosed in time. Those positive screening results should be referred to a center that specializes in the field to perform a thorough investigation in order to verify the screening results. Until the investigation is complete, caution must be taken in all matters related to hygiene and preventing infections.
What advice and helpful tools would you give to those countries that are still not screening?
The SCID screening saves lives and saves financial expenses. Newborn screening tests have revolutionized everything related to the identification and treatment of babies with certain diseases. The impact on the individual patient, the family and society as a whole is enormous. The strength of healthy society is measured, in part, by the ability to treat the individual patient, even if s/he has a rare disease. In countries where there is a high rate of consanguineous marriages and therefore also a high rate of genetic diseases of the immune system, screening is highly recommended.
Do you anticipate any changes to the way newborn screening is conducted in the future?
I hope that additional diseases of the immune system will be added to the panel of screening tests and thus lead to quick and successful treatment for many babies. I predict that in the coming years screening will move from specific molecular tests to broad genetic evaluations that will enable early detection of many more diseases.
How has the Foundation impacted your work with newborn screening?
The JMF led by Fred and Vicki Modell pioneered the field. They understood the effect of screening on the individual patient and the contribution to society. The Foundation led the efforts of screening for SCID throughout the years and gave professional and explanatory support in everything. They created a positive media response for the introduction of SCID screening and in saving the lives of hundreds of babies who were born without an immune system. Thanks to the Foundation, their lives were saved.
Is there any advice you’d like to offer patients and families who test positive for SCID?
Be optimistic, trust your doctors, stick to their advice, and understand that early diagnosis is important and may lead to better treatment outcomes. We have the capability to offer affected babies a fair chance to live a normal life.
In honor of WPIW this year, we created the JMF regional toolkits to streamline the diagnostic odyssey. It’s our goal to reduce the burden that so many patients and families experience by providing these essential resources in one place for ease of use.
Our educational materials play a key role in spreading awareness for Primary Immunodeficiency and encouraging better access to treatment and care worldwide. Each toolkit includes all of the available 10 Warning Signs, 4 Stages of Testing, and Immune System Posters in the language(s) of the region, as well as all of the known patient organizations, including their contact information. Looking for a local support community? Check your regional toolkit and reach out to form lasting connections and attend fun and safe events.
The toolkits will live permanently on our website and social media platforms for easy access. We hope you will share them widely to support our mission of earliest possible diagnosis. Together, let’s change the face of PI worldwide!
You can find all of the toolkits, available by region, on our website. If you don’t see your language(s) or patient organization represented, please reach out to us at email@example.com with the subject line “Regional Toolkit Addition” to request an update.
International Plasma Awareness week will be here before we know it! We wanted to remind our community to join the global effort to screen potential plasma donors and support confirmed donors between October 3 - 7th, 2022.
Head to your closest plasma donation center during awareness week, or whenever you have time. You can find your nearest plasma donation center here: https://www.donatingplasma.org/donation/find-a-donor-center.
New donors will present their ID and complete a short questionnaire before participating in a brief health screening to confirm donation eligibility. Once your health screening is complete, you’ll sit back and relax for about 90 minutes while your plasma is collected.
There is currently an increased need for plasma, and you can be the solution! Together we can continue to raise awareness about the importance of plasma for people living with PI and save lives.