We Proudly Welcome our Inaugural Executive Director

We Proudly Welcome our Inaugural Executive Director

Meet Svetlana Hutfles We are delighted to share a momentous occasion in our journey towards finding a cure for APS Type 1 and supporting those affected by this rare disease. Thanks to the generosity of our dedicated donors and supporters, The APS Type 1 Foundation is proud to announce that it has hired its inaugural…

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Ascendis Pharma Announces Extension of U.S. Food and Drug Administration Review Period for TransCon™ PTH for Adults with Hypoparathyroidism

COPENHAGEN, Denmark, May 14, 2024 (GLOBE NEWSWIRE) — Ascendis Pharma A/S (Nasdaq: ASND) today announced that the U.S. Food and Drug Administration (FDA) notified the Company that information submitted in response to the FDA’s ongoing review of the New Drug Application (NDA) for TransCon PTH (palopegteriparatide) for adults with hypoparathyroidism constituted a major amendment to the NDA. Accordingly, the FDA has…

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At the Finish Line!

At the Finish Line!

We did it! Thanks to all the biking, running, hiking, tae kwan do, rock climbing, salsa dancing, house work, HIIT work outs, sailing, weight lifting, walking, CrossFit, yard work, hot yoga, rowing, pickleball, circuit training, swimming, stretching, cooking, trail running, pilates, surfing, and spinning that you AMAZING people logged, as a team we covered 1647.2…

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Foundation Grant Yields Two Scientific Publications

We are grateful to all the members of APS Type 1 Foundation for their continuous support and advice. We thank APS Type 1 Foundation’s families for their hard work to raise funds to support APS-1 research. Rachid Tazi-Ahnini and Mimoun Azzouz In 2019, the Foundation’s research grant was awarded to Rachid Tazi-Ahnini and Mimoun Azzouz…

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Forever in Blue Jean for Genes was a Super Diamond Success

Forever in Blue Jean for Genes was a Super Diamond Success

Dear Friends, Family and all APS Type 1 Supporters, The words “Thank You” do not feel sufficient to express our sincere gratitude for your generous support of the APS Type 1 Foundation at “Forever in Blue Jeans for Genes” last month. Looking back on the event, we were overwhelmed to feel all the love in…

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Externally Led Patient Focused Drug Development (EL-PFDD) Meeting

Many in our APS type 1 community are affected by hypoparathyroidism. On March 5th, Julia Richardson joined about a dozen other patients, to share the impact of hypoparathyroidism and treatment at an Externally Led Patient Focused Drug Development (EL-PFDD) meeting. The goal of the meeting was to share the effects of the disease and the…

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A message from our President, Todd Talarico

Welcome to 2024, we hope that you and your family have kicked off the new year with good health and happiness!   Our spring newsletter will highlight some of the amazing activities of our community already this year and provide you with a look at what we are focused on for 2024.  Make sure you read about…

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FOCIS Conference

We are thrilled to announce that The APS 1 Foundation is partnering with the Clinical Immunology Society and National Institute of Allergy and Infectious Diseases (NIAID)  to hold a symposium at this June’s FOCIS conference in San Francisco. FOCIS will bring together leading clinicians and researchers delivering the latest breakthroughs across immunology. It is a key meeting for translational immunology. The title of the…

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AstraZeneca inks $800M buyout of French biotech to snag phase 3 rare disease drug

By Nick Paul Taylor AstraZeneca is paying $800 million to expand into rare endocrinology, snagging itself a phase 3 candidate through the acquisition of French biotech Amolyt Pharma. The deal features $250 million in milestones tied to a regulatory event. Buying Amolyt will give AstraZeneca control of eneboparatide, a PTHR1 agonist that the biotech moved into phase 3 in June….

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2024 Rare Disease Day: How You Can Make A Difference!

On February 29th, please join us in raising awareness about APS Type 1 as we celebrate the Rare Disease Day! Post messages, photos, videos, or whatever you think best shares your story on social media and add the hashtag #APS1WeAreRare. February 29th is the International Rare Disease Day. This day is dedicated to raising awareness and generating change for the 300…

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Giving Thanks on Giving Tuesday

With a lofty goal of $25,000, the Foundation initiated an email campaign in early November, asking members of the community to activate their networks in giving. The idea behind this approach was to expand our reach and get all families invested in our common mission. Email templates were provided to make the process as easy…

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The Kaitlyn Lovett Memorial Christmas Tournament continues to give back!

The Kaitlyn Lovett Memorial Christmas Tournament continues to give back!

The Kaitlyn Lovett Memorial Christmas Tournament continues to give back!  They raised over $15,000 at last year’s tournament, which supported travel grants to attend our summer symposium for many of our families. Kaitlyn’s mother, Maureen Lovett, shared with the Foundation that it was important to Kaitlyn to positively impact the lives of those with APS…

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Community Spotlight: Payton Ditty

You are not alone in this world, I love you, we all love you and are here to support you through your journey. Payton Ditty Hi! My name’s Payton. I was first diagnosed with APS Type 1 at the age of 7 after an adrenal crisis that lasted weeks. That was the start of my…

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Update on the 5th International Symposium on APS Type 1

We were delighted to see many of you at our 5th International Symposium on APS Type 1. Our symposium brought together APS Type 1 families and medical experts from around the globe. Patients, families, caregivers, researchers, and clinicians had a chance to meet and get to know each other. We are particularly grateful to the doctors…

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Global Genes’ 12th Annual RARE Advocacy Summit

Join board members, Robin Finch and Laura Rivard, at Global Genes’ 12th Annual RARE Advocacy Summit, September 19-21, 2023, in San Diego, California. Each year, Global Genes convenes one of the world’s largest gatherings of rare disease patients, caregivers, advocates, healthcare professionals, researchers, partners, and allies at the RARE Advocacy Summit. This is an unparalleled…

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Dave’s Research Corner: Thoughts on SSDI, SSI and other benefits

In the early hours of July 28, 2017, Senator John McCain voted to preserve the Patient Protection and Affordable Health Care Act, better known as the “ACA” or even much better known as “Obama Care.”  There are two key provisions in this act that are of particular importance to our group:  1. Insurers are mandated…

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The 2023 YARR Leadership Academy

Applications for the 2023 YARR Leadership Academy are now open! The YARR Leadership Academy is a series of online classes offered to a select group of advocates between 18 and 30 years old who are ready to be leaders in the rare disease community.YARR Leadership Academy students will learn about the roles and opportunities for patient representation in…

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Update on New Hypoparathyroidism Therapy

In March 2023, we posted about a potential new therapy to treat hypoparathyroidism from Ascendis Pharma. Click here to read the earlier post. Today, we update you that the U.S. Food and Drug Administration did not approve TransCon™ PTH just yet, but all hope is not lost. While the FDA is requiring additional information about…

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APS Type 1 Foundation Observes Rare Disease Day in Stride

From February 13th through February 28th (Rare Disease Day), APS Type 1 patients, families, and supporters gathered virtually to participate in a 1000-mile walk. The purpose of the online “race” was to raise awareness of APS Type 1, build community, and fundraise for critical research and programming. The event also honored the memory of James…

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Dave’s Research Corner – March 2023 – Spotlight on Thymmune

Article: “This stem cell startup is designing a therapy to restore and boost immunity” Author: Ryan Cross Newspaper: Boston Globe March 1, 2023, 12:01 a.m. Click here for the link to the article Key quotes:  “(Dr.) Wang wants to use his company’s thymus cells as a therapy that helps people getting bone marrow or organ…

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#RAREis Scholarship Fund

The EveryLife Foundation for Rare Diseases has established the #RAREis Scholarship Fund to help adults with rare diseases in a variety of educational pursuits, regardless of treatment status. Thanks to the support of Horizon Therapeutics plc, one-time awards of $5,000 each will be granted up to 70 recipients for the Fall 2023 semester. The program…

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[IDF news] Healing the trauma of a life-changing PI diagnosis

Most people associate trauma with distressing events such as a natural disaster, the sudden loss of a loved one, or an instance of violence, but trauma can also result from chronic illness, including primary immunodeficiency (PI)—and that trauma has an impact on mental health. “Typically, trauma is something that is happening outside of us, something…

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Rare Disease Day 2023: Update on 1,000 Miles for APS Type 1

Dear friends and families of the APS Type 1 Foundation:  On this Rare Disease Day, we are so moved by the enthusiasm with which you all have embraced our cause over the last few weeks. Together, we far exceeded our 1,000 mile goal for APS Type 1.  We’ve logged over 4300 miles, roughly the distance between Atlanta and…

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3 Days To Go

***Thanks to you amazing racers, we are only $317 away from reaching $10,000 raised. Check your coats and jeans pockets for that forgotten five or twenty dollar bill and send it in!*** Since so many of us are new to the APS Type 1 Foundation, we want to take this opportunity to explain our work…

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Remembering James

“A great soul serves everyone all the time. A great soul never dies. It brings us together again and again.” — Maya Angelou And so James Read has brought us all together on this journey, inspired by a too-short life that was nevertheless lived to the fullest. James was just 20 years old when he passed…

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And We’re Off…

And We’re Off…

Good morning racers! As we leave Wrigley Field and begin our trek to Washington DC, the APS Type 1 Foundation would like to give a heartfelt “thank you” to everyone who is joining us on this journey. Having a rare disease is by definition a lonely experience, so events like this are a welcome opportunity…

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27 Miles Fundraiser Update

In honour of James Read’s life and in celebration of his birthday on December 27th, his friends in the UK walked 27 miles in one day. They had almost 30 people to start, meeting by the tree of life outside Lincoln Cathedral, where James was a chorister. Friends, family and teachers joined part way for…

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Walk 1000 miles for APS Type 1

Thank you for interest in the 2023 “Walk 1000 miles for APS Type 1” virtual trek. Who: Anyone in the APS Type 1 community and their supporters! One of the best features of our online race platform is that participants can log any type of activity. You can run, walk, bike, swim, dance, circuit train,…

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NIH LAUNCHES FIRST EVER THERAPEUTIC CLINICAL TRIAL IN APS TYPE 1

Dr. Lionakis’ Lab and his team of dedicated healthcare providers at the National Institutes of Health in Bethesda, Maryland, have collaborated with the APS Type 1 community since 2012 with the goals of characterizing disease progression and developing new therapeutic approaches to improving the lives of persons with APS Type 1/APECED. Building on their research…

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DAVE’S RESEARCH CORNER – RADIOLAB.ORG RELEASES THYMUS PODCAST

RADIOLAB.ORG RELEASES THYMUS PODCAST We invite you to listen to Radiolab’s new podcast entitled “My Thymus, Myself.”  As you may know,  APS Type 1 results from a mutation in the AIRE gene which determines self-tolerance by programming T cells to recognize self and not self.  This 2022 Radiolab podcast does a good job of explaining…

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NIH LAUNCHES FIRST EVER THERAPEUTIC CLINICAL TRIAL IN APS TYPE 1

NIH LAUNCHES FIRST EVER THERAPEUTIC CLINICAL TRIAL IN APS TYPE 1 Dr. Lionakis’ Lab and his team of dedicated healthcare providers at the National Institutes of Health in Bethesda, Maryland, have collaborated with the APS Type 1 community since 2012 with the goals of characterizing disease progression and developing new therapeutic approaches to improving the…

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2022 Registry Update

Congratulations to the APS Type 1 (APECED) Registry community!  We’ve enrolled over 100 patients (106 to be exact) into our very own registry, The APS Type 1 (APECED) Registry.  We have big plans for 2023, including publishing an article using the patient data we’ve collected so far in collaboration with UCLA. We plan to curate…

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Meet our new board members!

As the aspirations and goals of our community grows, so too does our board.  We are excited to announce the expansion of our board of directors to include three new members: Dr. Pushpa Rao, Julia Richardson and Dr. Laura Rivard.  We are grateful for their support, collaboration and passion. Dr. Pushpa Rao is the proud…

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Giving Tuesday 2022: Donate today to make a difference for APS Type 1 patients!

Your generosity and support now will help make it possible for us to accomplish the following critical objectives in 2023: Host our 5th International Symposium in Washington, D.C. in July 2023 to bring patients, families and researchers together. Continue to build our global research network and fund critical research. Raise awareness and shorten the time for…

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URGENT: Medical Device Recall – Omnipod DASH® Insulin Management System 

Affected Product: Device Description Part Number Serial Number Omnipod DASH® Personal Diabetes Manager (PDM) PDM-CAN-D001-MMSKT-CAN-D001-MM All serial numbers Dear Valued Customer, You are receiving this letter as our records indicate you are a current or past user of the Omnipod DASH® Insulin Management System. This notice is being communicated as a voluntary Field Safety Notification…

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Autoimmune Community Summit

Register today and mark your calendar for Friday, October 21 and Saturday, October 22. It’s virtual and it’s free! Click here to register! Friday Lunch Keynote Speaker: Gigi Robinson Gigi Robinson will be a lunch keynote speaker. Gigi, a Gen Z social media influencer, was diagnosed with Ehlers Danlos Syndrome at age 11 and uses her chronic illness as fuel for her passion for advocacy. In her…

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Help Advance APS Type 1 (APECED) Research from Home and Earn USD $100

The APS Type 1 Foundation is reaching out to the APS Type 1 (APECED) patient community to raise awareness about an opportunity for patients to help advance research from home. What is the goal of the research? The goal of this study is to understand how APS Type 1 (APECED) works on a cellular level…

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Kaitlyn Lovett – 2022 Memorial Fundraiser

Thank you to the Lovett family and friends, the Holy Rosary CYO Program and Gordo’s North for their generous support of our foundation.  Their 2022 March Madness fundraiser in memory of Kaitlyn Lovett raised $1,775 in support of our mission to raise awareness about APS Type 1 and to help find a cure. The Holy…

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[NORD] $50,000 Grant Opportunity from the APS Type 1 Foundation

NORD Announces over $100,000 in Grant Funding Available for Rare Disease Research Three RFPs Now Open for Qualified Researchers through NORD’s Jayne Holtzer Rare Disease Research Grants Program April 29, 2022, Washington, DC – Today, the National Organization for Rare Disorders (NORD®) announced three new requests for proposal (RFP) for grant funding related to the following…

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The Centers for Disease Control and Prevention (CDC) Recommendation for the 4th vaccine dose for COVID-19

The CDC now recommends a 4th vaccine dose to be given at least 12 weeks after the 3rd dose for mRNA vaccines in patients >12 years old with moderate or severe immunocompromise. No such recommendation is yet given by the CDC for <12-year-old individuals. Given that APS1 patients carry type I IFN autoantibodies and many are also on immunomodulatory medications that can…

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ELSA Passed in the U.S. House of Representatives

Did You Hear The BIG News?On Monday, April 4, 2022, the U.S. House of Representatives passed the Ensuring Lasting Smiles Act (ELSA) with supermajority support! We are thrilled that our small-but-mighty bill has passed the U.S. House of Representatives and is one step closer to becoming a law. We wouldn’t be here without the grass-roots efforts of our advocates…

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DAVE’s RESEARCH CORNER – March 2022

Somewhat serendipitously, before NORD announced that Dr. Lionakis was named a 2002 Rare Impact Award Honoree, we had planned to feature Dr. Lionakis and his work. We especially want to recognize him for all that he has done to advance the scientific community’s understanding of APS 1/APECED as well as for his kind and compassionate care…

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Update on the 2022 Rare Disease Day!

This year’s Rare Disease Day was a resounding success! Thank you to many of you for participating with the Zebra-themed shirts and jean ribbons, for joining the virtual event and for various activities you have conducted to raise awareness on rare diseases.  If you missed the wonderful virtual event organized by our friends at NORD,…

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Community Spotlight: Ashley Harris

Meet Ashley Harris, APS Type 1 mom and administrator of the Foundation’s Community Facebook page for friends and families with APS Type 1. “Originally from San Antonio, TX, and currently living in Washington, D.C., my husband, Dave, and I met at the University of Alabama (Roll Tide) and have been living an adventurous and chaotic military life…

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NATPARA® Update

NATPARA® Update Pharmaceutical company Takeda continues to work with the U.S. Food and Drug Administration (FDA) to bring NATPARA® back on the market.  Unfortunately, there is more work to do.   Click on the link below to read Takeda’s recent regulatory update.  According to the update, Takeda plans to continue providing NATPARA® to those enrolled in its…

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#RAREis Scholarship Fund

Pursue Your Dreams through the #RAREis Scholarship Fund The #RAREis Scholarship Fund was established in 2020 to help young adults with rare diseases to pursue their dreams through education. Thanks to the support of the #RAREis program by Horizon Therapeutics, The EveryLife Foundation is pleased to announce its third year of the #RAREis Scholarship Fund, a scholarship dedicated to the…

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SAVE THE DATES: IDF x APS Type 1 Get Connected Series 2022

In partnership with the IDF (Immune Deficiency Foundation), we are planning a regular virtual get-together for our patient community, so that we can connect with other families and medical professionals in the APS Type 1 field! The virtual platform via Zoom allows us to meet and ask questions, share tips, and bond together with community…

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The RARE Compassion Program (Community News)

It is estimated that 30 million people in the United States, or 1 in 10, are living with a rare medical condition. Although understanding the experience of a person with a rare disease can enable improved health, faster and more accurate diagnosis, and better care for individuals and families living with rare diseases, medical professionals…

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A Rare Disease Day Toolkit! >> Feb 28, 2022

DO YOU KNOW A STUDENT WHO IS INTERESTED IN RAISING AWARENESS? February 28 (the rarest last day of the year) marks World Rare Disease Day.  Julia Band Orange and Julia Finch have compiled materials to create a “Rare Disease Day In-a-Box”!  Please click here to find an awareness video, a sample speech, an article for a school…

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Breaking Down Common Terms in the Immune Deficiency Space

Breaking Down Common Terms in the Immune Deficiency Space

As with any medical field, there are a number of terms in the immunodeficiency community that can quickly get confusing for new patients and their caregivers. A few examples: immunocompromised, immunosuppressed, primary immunodeficiency, secondary (or acquired) immunodeficiency, inborn errors of immunity. What do these terms mean? And how do they relate to each other? Defining…

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FDA APPROVES ANTIVIRAL PILLS TO TREAT COVID-19 AT HOME

The Food and Drug Administration announced an emergency use authorization (EUA) of antiviral treatments for mild-to-moderate coronavirus disease (Covid-19) on December 22 and 23rd. This wonderful news provides a useful new course of action for covid-19 infections, including breakthrough cases of omicron as well as the other variants. These antiviral treatments will eventually be for…

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