United Porphyrias Association

Mental health matters — especially when living with porphyria. In our latest Summing UP article, we explore key findings from focus groups of patients living with acute and cutaneous porphyrias, presented at the International Congress of Porphyrins and Porphyria in Spain. Patients shared emotional challenges such as: ?? Anxiety & depression ?? Isolation & feelings of invisibility ?? Grief, frustration, and medical trauma They also highlighted the urgent need for: ?? Support groups & mentorship ?? Mental health professionals trained in rare diseases ?? Community-building initiatives and more. At UPA, we are committed to advocating for these critical resources! ?? Read the full summary on our website: https://lnkd.in/gv4PrXzM #UnitedPorphyrias #PorphyriaTogether #Porphyria #RareDisease #RareDiseaseAwareness #ChronicIllness #chronicillnesswarrior #rarediseases #mentalhealth

Students living with rare diseases — this is for YOU! The #RAREis Scholarship is now accepting applications! ?? If you are navigating life with a rare disease and pursuing your education, you could receive $5,000 to help you achieve your academic dreams. ??? Apply before April 5, 2025: https://lnkd.in/dnebd6m #RareDisease #ScholarshipOpportunity #RAREisScholarship #Porphyria #RareDiseaseCommunity #ChronicIllness #StudentLife #UnitedPorphyrias #PorphyriaTogether

It's #WorldKidneyDay! Porphyria affects many systems in the body, including the kidneys for people with acute hepatic porphyrias (AIP, HCP & VP). Learn more about how you can look after your kidneys while living with porphyria at https://lnkd.in/gcuQaZqX

New Blog Post on Porphyria Voices ?? We’re excited to share Elsie’s story, a courageous individual living with congenital erythropoietic porphyria (CEP). Elsie’s journey of adapting to life with extreme sun sensitivity and finding strength in her passions is a powerful reminder of the resilience of those with rare diseases. Click the link to read her full story and learn more about living with CEP: https://lnkd.in/gpiVc52W #UnitedPorphyrias #PorphyriaTogether #Porphyria #RareDisease #RareDiseaseAwareness #ChronicIllness

Meet Dr. Robert Desnick: A Pioneer in Porphyria Research and Treatment ???? At United Porphyrias Association, we are honored to work alongside some of the world's leading experts in porphyria. One of these remarkable individuals is Dr. Robert Desnick, a renowned MD PhD medical geneticist at the Icahn School of Medicine at Mount Sinai in New York City. His groundbreaking work has played a key role in advancing the diagnosis, treatment, and prevention of porphyria and other inherited metabolic diseases. Dr. Desnick and his team work closely with UPA to support patients, offering expert consultations for complex medical cases and collaborating on vital awareness campaigns. He is also a key organizer of the International Porphyrias Symposium (IPS), which brings together researchers, clinicians, and patients to share the latest advancements in porphyria treatment and advocacy ?? His dedication has changed the landscape of porphyria research and treatment, offering hope to thousands worldwide. ?? Read more about his amazing journey and career here: https://lnkd.in/gfsceYaS #UnitedPorphyrias #PorphyriaTogether #Porphyria #RareDisease #ChronicIllness #doctor

New Research on EPP & XLP Liver Complications A recent study from the Porphyrias Consortium, using data from 322 patients, provides crucial insights into the prevalence and severity of liver complications in individuals with EPP and XLP. Key findings include: -Liver abnormalities are common, though often mild. -Some patients develop severe complications, underscoring the importance of early detection strategies. -These findings emphasize the need for better monitoring protocols to identify at-risk patients early. This research is a vital step toward improving long-term outcomes for individuals living with porphyria. ?? Read the full study here: https://lnkd.in/gzz-qxkY #UnitedPorphyrias #PorphyriaTogether #Porphyria #RareDisease #RareDiseaseAwareness #EPP #XLP #MedicalResearch #liver

At Rare Disease Day 2025, UPA President Kristen Wheeden took the stage at the Rally for Rare in Bethesda, MD, to spotlight the ongoing journey of porphyria research. Her presentation, "Funding, Progress, and the Unknowns: The Porphyria Research Journey," emphasized how far we’ve come in understanding porphyria—but also how much remains undiscovered. With an audience of pharma partners, advocates, and patients, including Recordati, one of our key industry collaborators, Kristen highlighted the urgent need for continued research, stronger collaborations, and greater awareness. Every step forward brings us closer to better treatments and a brighter future for the porphyria community. ?? Research doesn’t stop here. Let’s keep pushing for answers! #UnitedPorphyrias #PorphyriaTogether #Porphyria #RareDiseaseDay #RallyForRare #Research #Advocacy #RareDiseaseAwareness

There is so much going on in the #porphyria community! Check out the latest news and join our mailing list at: https://ow.ly/Iv6P50V9zjN

This #RareDiseaseDay, we are calling on patients, caregivers, researchers, and advocates to sign a petition urging Congress to protect funding and leadership for biomedical research and public health programs. Your signature can help ensure that: ? Rare disease research continues to advance. ? Patients get timely diagnoses & access to care. ? Funding supports life-saving treatments. Sign the petition now and encourage your family & friends to join: https://lnkd.in/gQ8HqNBn The letter will be sent to Congress on February 28th. Make sure your name is on it! #RareDiseaseDay #UnitedPorphyrias #Porphyria #RareDisease #RareDiseaseAwareness #ChronicIllness

Happy Caregiver's Day! ?? Today, we celebrate the incredible strength and love that caregivers provide to those facing challenges every day. We’re excited to share a special article on our blog Porphyria Voices, written by Jasmine, a dedicated caregiver to her mother Mayra, who lives with Acute Intermittent Porphyria ?? Jasmine’s story is one of deep compassion and unwavering commitment, and we hope it inspires you. Read her full article here: https://lnkd.in/gScr7Rwm ??If you're a caregiver with a story to share, we’d love to hear from you. Feel free to reach out to [email protected] and join us in spreading awareness and support for those living with porphyria. #UnitedPorphyrias #Porphyria #RareDisease #RareDiseaseAwareness #ChronicIllness #PorphyriaCommunity #PorphyriaWarrior #PorphyriaTogether #caregiver