Skip to main content

Posts

Showing posts from July, 2019

Meet Shadow Jumper Mitchell Felts

Meet Shadow Jumper
Mitchell FeltsMitchell Felts, age 12 How old were you when you were diagnosed?
I was 9 Years old. Do you remember your first flare/reaction?
No, I do not recall my first flare & reaction. What did it feel like to you?
It was tingling bad on my skin. What things help you feel better? (cool water, ice, shade, bath, clothes)
It helps me when I use cold rags and ice packs on my skin. How long does it take before you start to feel better?
Sometimes, I start to feel better after the first day, but sometimes it takes 2-3 days or longer to feel better. What kind of clothing/trends do you wear when you go outside or in bad lighting?
I can use long sleeves, hats and umbrellas. What is your most favorite sport to play or watch? Do you play it inside or outside? During the day or at night?
I enjoy playing baseball late in the day and it feels great to play at night. What ways are you able to adapt to do certain activities outside?
I must cover up, its hot outside so I must take breaks to c…

Amazing patient advocacy....and needed media for this issue. Thank you Terri Witter!

Shadow Jumpers Tips & Tricks EPP

Tips and Tricks We know growing up with EPP has its challenges. You may have to cover up and look different outside or may be stuck indoors on those hot sunny days but what’s important is to know that you aren’t alone out there. Many kids, just like you, are dealing with long days finding things to do to dodge the sun and ways to let loose at sun down. Here at Shadow Jumpers, we’ve developed a section for Kids to hear from people just like YOU! Check back here soon to read some amazing testimonial stories from kids in our EPP community. EPP may be hard, but it’s something we continue to tackle together. TipsHave a tip to share? Email it to shadowjumpers@porphyriafoundation.org CLOTHING:I wear an oversized hoodie – the hood covers the sides of my face.  (Brady, age 12)Cut thumbholes in your sleeves to keep your jacket or sweatshirt over your hands without sliding up. This works great for young kids! (anonymous)Wear a big hat and walk on the shady side of the street! (Brenda, EPP)I hav…

APF Swag Store

Check out the remaining Inventory of APF Swag! Get your's today! 100% of your purchase goes back to the APF.
Sizes & Colors left are in description! BOGO items!!
https://www.porphyriafoundation.org/apf-store/
Prices of shipping per country vary please email Amy@porphyriafoundation.org for pricing

Misconceptions about living with a rare disease – the community weighs in

Misconceptions about living with a rare disease – the community weighs in Posted by Laura Mullen
A few weeks ago, we asked the community what some misconceptions were about living with a rare condition. The Mighty collected your responses and published them in the article below on February 28 for #RareDiseaseDay.
On World Rare Disease Day, groups and communities representing over 7,000 rare diseases gather together to unify their messages and support one another. With so many conditions, and new ones continuously being discovered, it’s sometimes hard for others to grasp what it really means to live with a rare condition, or care for someone who’s rare. The Mighty teamed up with the National Organization for Rare Disorders (NORD), a non-profit organization supporting individuals and families facing rare conditions through education, patient advocacy and research, and asked our communities, “What’s one misconception about living with a rare condition?” Their answers show that indeed, th…

Who are the Shadow Jumpers?

Shadow JumpersWelcome to Shadow Jumpers! This is a page for EPP kids and parents by EPP kids and parents. Shadow Jumpers was created to help give kids with Erythropoietic Protoporphyria (EPP) and their families a place to learn about this rare disease, read tips and tricks learned over time and to hear from fellow kids.  Through spreading awareness, fellow EPP interviews, tips to protecting yourself outside and some insight for parents, we hope all families living with EPP will look at this condition as a challenge they can overcome.  Be sure to check out all the Shadow Jumper resources! We’d love to hear from you. Reach out to us anytime on shadowjumpers@porphyriafoundation.org!! A main goal of Shadow Jumpers is to help kids living with Erythropoietic Protoporphyria do things they have always wanted to do but have not been able because of the sun. There are only several hundred diagnosed cases of this ultra-rare genetic disorder in the United States – so we need to learn from and su…

This critical OpEd was published today about access to Panhematin. Please share with your community and your members of Congress!

This critical OpEd was published today about access to Panhematin.  Please share with your community and your members of Congress! 

Email-kristen@porphyriafoundation.org

https://morningconsult.com/opinions/rare-disease-sufferers-fighting-both-their-condition-federal-bureaucracy/

NIH UPDATED INFORMATION ON ALL PORPHYRIAS

Here is an updated NIH article please read and share with anyone who has questions.
The following information may help to address your question: What is porphyria?
How is porphyria diagnosed?
Is genetic testing clinically available for porphyria?
How can I find a genetics professional in my area? What is porphyria? Porphyrias are a group of blood conditions caused by a lack of an enzyme in the body that makes heme, an important molecule that carries oxygen throughout the body and is vital for all of the body’s organs. Major types include ALAD deficiency porphyria, acute intermittent porphyria, congenital erythropoietic porphyria, erythropoietic protoporphyria, hepatoerythropoietic porphyria, hereditary coproporphyria, porphyria cutanea tarda, and variegate porphyria. The most common type of porphyria is porphyria cutanea tarda. Some of the symptoms of porphyria include blistering, swelling, and itching when the skin is exposed to sun. Other symptoms may also include pain, numbness or tin…

Medical Moment: Publications by porphyria experts

Medical Moment: Publications by porphyria experts
Over the years, the experts of the Porphyrias Consortium ( https://www.rarediseasesnetwork.org/cms/porphyrias/) have developed an extensive list of publications. These articles have served to educate both patients and healthcare professionals. This lengthy list of publications includes the implementation of research studies, clinical trials, diagnosis, management, current and emerging therapies, etc. of the porphyrias. Our team of experts continue to work on your behalf to provide you with the most up-to-date information as research continues.  Listed below are a few of the go-to publications. 
We invite you to click on the link below to see the full list of publications. Annals of Internal Medicine - Recommendations for the Diagnosis and Treatment of the Acute PorphyriasBenefits of Prophylactic Heme TreatmentDiagnostic Delay in Erythropoietic ProtoporphyriaHepatitis C, porphyria cutanea tarda and liver iron: an update
Link: https…

Avoid the Sun If You Take These Drugs

***General article not involving the Porphyrias and check the drug safety list*** Medicine & Health Avoid the Sun If You Take These Drugs Ronilee Shye, PharmD, BCGP, BCACP
Roni Shye, PharmD, BCGP, BCACP is a licensed pharmacist in Florida, Ohio, and Pennsylvania.
Posted on March 26, 2019 If you’re itching for sun and can’t wait for summer, it’s important to know beforehand that some of your medications could cause an unexpected problem. You may not be aware of this, but some prescription drugs can make you more sensitive to sunlight and cause your skin to burn more easily, a reaction known as photosensitivity. What symptoms happen with photosensitivity? If your medication has a warning to avoid sunlight or mentions photosensitivity as a possible side effect, don’t ignore it. Photosensitivity is an abnormally high sensitivity to ultraviolet (UV) rays from the sun. This usually means that you could be more sensitive to sunlight and get sunburns more easily. It might not be the same k…