All about APDS

On this Father's Day, let's recognize and celebrate all dads, especially those playing a crucial role in supporting and caring for children with a primary immunodeficiency (PI).

Signs and symptoms of a PI often begin in infancy. Patients with activated PI3K delta syndrome (APDS), a rare PI, are often diagnosed at a median age of 12. The journey through APDS diagnosis and care can be challenging for families, and dads are essential caregivers for children with APDS.

If you or someone you know is caring for a child with APDS, we invite you to visit our website, where you'll find a range of helpful resources and information.

http://allaboutapds.com

APDS is a primary immunodeficiency caused by abnormalities in one of two genes: PIK3CD and PIK3R1.

APDS is a genetic condition, which means that if you have APDS, there is a chance to pass the disease down to your children. APDS has an autosomal dominant inheritance pattern. This means that only one parent needs to have the altered gene for APDS to be inherited. Thus, people with APDS have a 50% chance of passing it to their children.

For immediate relatives of someone with APDS, a genetic test could show if you carry the same genetic condition.

For more information about APDS go to: https://allaboutapds.com/

Do you sometimes need to explain your APDS diagnosis to other people?

Our website offers a range of educational resources, such as videos and podcasts, that can help you explain how APDS affects you and your loved ones.

Visit the All About APDS website to access these resources, which feature patients and healthcare professionals on topics such as living with APDS, its diagnosis, and symptoms. Share the link with family or friends to help them understand more about APDS.

https://allaboutapds.com/downloads-and-videos/

Did you know that APDS (activated PI3k delta syndrome) is a genetic disorder that can impact multiple members of a family?

The signs and symptoms of APDS can differ even among siblings with the same condition.

For family members of someone diagnosed with APDS, genetic testing is an important step to identify others affected with the disease.

To learn more about this disease, you can watch one family’s story about a brother and sister who have both been diagnosed with APDS despite having very different symptoms growing up https://shor.by/2vt2.

For more information visit our website. https://allaboutapds.com/

Happy Mother's Day to all the incredible moms out there, especially those caring for children with a primary immunodeficiency (PI) such as APDS.

We recognize the challenges that come with caring for a child with APDS, from managing symptoms to navigating medical appointments. Our website offers a wealth of resources and information to help support families impacted by APDS.

https://allaboutapds.com/

Pharming is honored to be recognized by the National Organization for Rare Disorders (NORD®) as an 'Industry Innovator' at the upcoming 2024 Rare Impact Awards. This is a momentous occasion for the scientists who developed a targeted therapy for activated PI3K delta syndrome (APDS), as well as for the patients we serve. ​​​​

Read the NORD press release here: https://shor.by/D2cY

April 22- 29 is World PI Week, which aims to raise awareness and improve diagnosis for people with primary immunodeficiency (PI). APDS (activated PI3k delta syndrome ) is an underdiagnosed, progressive PI.

For many people with a PI like APDS, the journey to a diagnosis can be challenging. The signs and symptoms of APDS can vary from person to person with the disease, making it difficult to recognize. To help create awareness, the 10 Warning Signs of APDS were developed in partnership with the Jeffrey Modell Foundation.

Download the 10 Warning Signs and discuss them with your doctor to determine if testing for APDS is appropriate for you.

allaboutapds.com/downloads-and-videos/

Join us in raising awareness of primary immunodeficiency (PI) during World PI Week!

For people with a PI like APDS, the road to diagnosis can be long and difficult. In support of World PI Week, we're sharing inspiring stories of individuals living with APDS.

In this podcast episode, Elaine, a nurse practitioner who supports patients with P*s like APDS, interviews Kristin, who was diagnosed with APDS as an adult. Kristin describes her courageous, challenging, and inspiring journey of working with her medical care team to reach a diagnosis.

Listen now ow.ly/GQLH50QQTza

Please feel free to share your diagnosis experience in the comments section below.

There are over 450 primary immunodeficiencies (P*s), and identifying a specific PI, such as APDS, can often be challenging.

This week marks World PI Week, which aims to raise awareness and improve diagnosis for people with PI. In support of World PI Week, we are sharing inspiring stories from our APDS community about their diagnosis journeys.

Today, we present Kaitlyn's story. Despite not having the same symptoms as her brother during his childhood, Kaitlyn was surprised to learn that she, too, had APDS after her brother’s diagnosis.

Watch her story ow.ly/gfaP50QQTCM

Share your story with the APDS community in the comments below.

From April 22nd to 29th, World PI Week is observed globally to raise awareness and help improve the diagnosis of primary immunodeficiencies (P*s). For those with a PI like APDS, the journey to a diagnosis can be challenging and can often take years.

During World PI Week, we're extending our support to those who are still on their diagnosis journey. We'll be sharing some inspiring stories of individuals living with APDS. Today, we invite you to watch Heather's story and learn what it meant for her daughter to finally receive a definitive APDS diagnosis.

Watch their story https://shor.by/Jqng
Please feel free to share your diagnosis experience in the comments section below.

Primary immunodeficiencies (PI), such as APDS, are typically genetic diseases. Genetic diseases are inherited, which means that multiple family members can be affected.

If you have been diagnosed with APDS, it is recommended that your immediate family members are also genetically tested for APDS. Understanding your family’s health record may be a good way to start a conversation about the risk of APDS and genetic testing.

Download the Family Health History resource on our website and complete your family history: https://allaboutapds.com/downloads-and-videos/

Join our APDS community!

Sign up now to receive educational resources and regular updates about APDS.

Registration will give you access to an APDS Clinical Educator (ACE) to work with you and your family members as you learn more about APDS.

Sign up at https://www.pharmingapds.com/

Do you have a family member living with APDS? Did you know this rare genetic condition can be hereditary?

Since APDS is a genetic condition, it can affect other members of your family. A genetic test can definitively diagnose APDS.

Talk to your doctor to see if you or your family members are eligible for the sponsored no-charge genetic testing program navigateAPDS*.

Visit our website now to find out more: allaboutapds.com/diagnosing-apds/

*Available in the U.S. and Canada only

Check out our website and get to know more about APDS with information about symptoms and diagnosis. Additional valuable resources include educational downloads and videos from patients and experts in primary immunodeficiency (PI).

The site also houses our Physician Locator Tool*, which can help you find a physician who has experience in diagnosing and managing P*s such as APDS.

For more, visit: allaboutapds.com

*US audiences only

Find out more about our simple-to-use resource: Our Physician Locator Tool may help you find a healthcare provider with experience managing patients with primary immunodeficiencies (P*s) like APDS (Activated PI3k delta syndrome).

Visit our website, then search your location on the tool to find a specialist. https://allaboutapds-doctorlocator.com/

On Rare Disease Day, we are raising awareness of the primary immunodeficiency (PI) APDS (Activated PI3k delta syndrome).
Did you know that APDS is a genetic disease that may affect multiple members of a family? However, signs and symptoms of APDS can vary even among family members, which can make recognizing APDS a challenge.

Meet Kaitlyn. When her brother was diagnosed with APDS, Kaitlyn was shocked to discover that she, too, had the disease even though she didn't share the same symptoms. Dive into Kaitlyn’s inspiring journey – it's a story of resilience, discovery, and the importance of genetic testing.

Watch her story now: https://shor.by/Vo0B

This Rare Disease Day, Feb 29th, we will be featured at the Crossroads of the World- New York City's iconic Times Square to ask the question, “Could it be APDS?”

This bold initiative will help raise awareness for this underdiagnosed disease. Amidst the fast-paced energy of the City, we want people to pause and think about APDS.

Let’s raise awareness for APDS! Join us at 1560 Broadway between 46th & 47th Street on Rare Disease Day. Take a selfie and post it with:

On Feb 29, people around the world recognize Rare Disease Day to help raise awareness for the thousands of rare diseases, many still without an approved treatment.

This month, we are raising awareness of APDS (Activated PI3k delta syndrome), an underdiagnosed, progressive, primary immunodeficiency (PI). APDS signs and symptoms can be challenging to identify, leading to delayed diagnosis, sometimes taking several years. As a result, complications from APDS can cause damage to organs and, in some cases, may even progress to lymphoma. Fortunately, a genetic test can be used to diagnose APDS.

Watch Kaitlyn’s story, a real patient living with APDS, and learn more about symptoms and testing from Dr Hartog, a doctor who specializes in treating people with PI.
Watch now https://shor.by/Vo0B

On Feb 29, people around the world recognize Rare Disease Day to help raise awareness for the thousands of rare diseases, many still without an approved treatment. This month, we are raising awareness of APDS (Activated PI3k delta syndrome), an underdiagnosed, progressive, primary immunodeficiency (PI).

APDS is a genetic disease, meaning that multiple family members may be affected. However, signs and symptoms of APDS can vary even among family members, which can make recognizing APDS a challenge. A genetic test can provide a definitive diagnosis of APDS.

Watch the short video below to hear how one family learned about their child's diagnosis. Click here to watch Kaitlyn’s story and how genetic testing helped with her diagnosis: https://shor.by/Vo0B

Do you or a member of your family have APDS?

This genetic condition can affect multiple people in the same family.

If anyone in your family has APDS, making a family health record of your and your relative’s illnesses may be a way to identify if other family members should consider genetic testing for APDS. Visit our website to download the Family Health Tree Worksheet and track your family’s health history to share with your doctor.

https://bit.ly/3Hny8BC

Do you or your child have repeated respiratory tract infections or ear infections? Have you discussed the possibility of an underlying cause, such as a primary immunodeficiency like APDS?

Heather, whose daughter was recently diagnosed with APDS, struggled to find answers when her daughter suffered from repeated ear and sinus infections from an early age. It took almost 10 years from the start of her symptoms to reach a diagnosis of APDS.

Her daughter's diagnosis meant that many of the questions she had about her illnesses could finally be answered.

Watch Heather's story at the link below.
https://allaboutapds.com/resources/heathers-story/

Primary immunodeficiencies (P*s) are diseases where the immune system does not function properly. This means that people with a PI can develop frequent, severe, or unusual infections.

While the number of infections can vary from person to person, if someone you know experiences an unusually high frequency or severity of infections, it could signal a PI such as APDS*.

To help recognize the signs and symptoms of APDS, the 10 Warning Signs were developed in partnership with the Jeffrey Modell Foundation. Download the 10 Warning Signs from our website. If appropriate, discuss them with your doctor to determine if testing for a PI, such as APDS, should be considered.

Download here allaboutapds.com/downloads-and-videos/

*Activated PI3k delta syndrome

For people with APDS, it can be a long journey to get a diagnosis. A genetic test may provide a diagnosis, which could change how your healthcare team manages your condition. Once you have a diagnosis, you can access resources and connect with APDS patients and caregivers who may understand your journey.

The AllaboutAPDS.com website and social channels provide information and educational resources for patients and their caregivers.

Visit our website to learn more about APDS:https://allaboutapds.com/

Signs and symptoms of primary immunodeficiency (PI) often start in childhood; however, national surveys of PI patients in the US reported that 60% were not diagnosed until they were adults.

In this podcast episode, hear from Kristin, a patient with APDS, as she shares her story to diagnosis. She is joined by host Elaine Kulm, a nurse practitioner who cares for patients with PI.

Kristin shares what it is like to navigate her care while living with APDS and the importance of being educated about the disease.

Hear her insights: http://bit.ly/3KG8s5I

We wish our followers and friends a happy and restful holiday season.

We were proud to partner with the Jeffrey Modell Foundation to develop the 10 Warning Signs of APDS.

If you or someone you know is affected by two or more of the Warning Signs, speak to a physician about the possibility of APDS.
https://info4pi.org/library/educational-materials/

APD-US-2023-0116