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Showing posts from July, 2019

NIH- Tips for the Undiagnosed

Tips for the UndiagnosedEn EspañolListen

Trying to find an underlying diagnosis for many conditions can be a very long and frustrating experience. With more rare conditions, a diagnosis can often take many years. Although this can be incredibly difficult, the following information may help you navigate through the process of trying to obtain a diagnosis.

Where can I find out how to cope with an undiagnosed condition?To learn more about how to deal with genetic or rare conditions that have no definitive diagnosis, see: Learning about an Undiagnosed Condition in a ChildLearning about an Undiagnosed Condition in an Adult
Global Genes has developed a resource for people with undiagnosed conditions called "Becoming An Empowered Patient: A Toolkit For The Undiagnosed."


Are there research programs available for people without a diagnosis?
Yes. If an individual’s health care providers and specialists have not been able to make a definite diagnosis so far, participating in a research stud…

NIH-How to Find a Disease Specialist

How to Find a Disease SpecialistEn EspañolListen Many individuals want to know about healthcare professionals or researchers who have knowledge of their conditions. When a condition is rare, it can be difficult to find someone who has seen many cases. Although there is no list of experts in rare diseases, the guidelines below include several ways to identify healthcare professionals who have experience with a particular condition. Potential resources include patient advocacy groups, researchers who have conducted or are conducting clinical trials, and authors of articles published in the medical literature. We are providing these resources to assist you in your search; however, sometimes it will not be possible to find a healthcare professional who has extensive experience in a particular rare condition. At the bottom of this fact sheet, we have provided some suggestions to help you when you are still unable to locate an expert after researching these resources. The GARD Information …

Medical Moment: Patient/Physician Relationship

Medical Moment: Patient/Physician Relationship
We all want a great relationship with our doctors, right? You, as the patient have a responsibility to establish a solid rapport with your physician and other members of the healthcare team. This can have a positive impact on the quality of care and better access to treatment. Yes, there could be a stigma associated with having Porphyria but don’t let it stop you from receiving the proper treatment that you deserve. Communication is KEY! Below you will find some key elements and tips that will not only prepare you for your visit with your doctor, but also build a strong relationship.
Here are a few tips for your doctor’s visit: 1. Plan – Be prepared! Prepare your questions and concerns beforehand. You want to be courteous of your physician’s time with you. 2. Make a list – Make a list of your questions, concerns and any other relating information. 3. Communication is key – Make sure that you understand fully what the doctor is explaining/a…

| PainDoctor.com What Is A Spoonie, And How Can The Concept Help You?

What Is A Spoonie, And How Can The Concept Help You? View Larger Image What Is A Spoonie, And How Can The Concept Help You? Have you heard someone with a chronic illness mention the word “spoonie”? This actually refers to an incredibly important metaphor that allows chronic patients to describe their illness and the challenges they face to another person. It can refer to any individual who suffer from a chronic illness. The term “spoonie” originated from The Spoon Theory, a blog post written by Christine Miserandino. Essentially, the Spoon Theory illustrates the challenges that someone living with a chronic illness faces every day. Each day, spoonies have a limited amount of energy and ability. This energy is represented by a handful of spoons. Activities of daily living take away “spoons.”  This makes it harder for chronic patients to keep up with daily tasks and responsibilities. What is the Spoon Theory? In 2010, Christine Miserandino was a college student living with lupus. She and…

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…