Wednesday, February 28, 2018

What is Rare Disease Day?

What is Rare Disease Day?

WHAT?

Rare Disease Day takes place on the last day of February each year. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives.The campaign targets primarily the general public 
and also seeks to raise awareness amongst policy makers, public authorities, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases.

Why?

Building awareness of rare diseases is so important because 1 in 20 people will live with a rare disease at some poinRare Disease Dayt in their life. Despite this, there is no cure for the majority of rare diseases and many go undiagnosed. Rare Disease Day improves knowledge amongst the general public of rare diseases while encouraging researchers and decision makers to address the needs of those living with rare diseases.

WHO?

Rare Disease day
Rare Disease Day events are down to hundreds of patient organisations all over the world who work on a local and national level to raise awareness for the rare disease community in their countries.
Since Rare Disease Day was first launched by EURORDIS and its Council of National Alliances in 2008, thousands of events have taken place throughout the world reaching hundreds of thousands of people and resulting in a great deal of media coverage. We especially thank our official Rare Disease Day partners, the National Alliances. These are umbrella organisations who group together several rare disease organisations in a given country or region. Click on a logo of one of the National Alliances to go to their website.

WHERE?

The campaign started as a European event and has progressively become a world phenomenon, with the USA joining in 2009 and participation in 94 countries all over the world in 2017. Hundreds of cities continue to take part in Rare Disease Day and we hope even more will join in 2018.
Rare Disease Day
Some countries have decided to raise rare disease awareness further, for example, Spain declared 2013 as the National Year for Rare Diseases.

WHEN?

Rare Disease DayThe first Rare Disease Day was celebrated in 2008 on 29 February, a ‘rare’ date that happens only once every four years. Ever since then, Rare Disease Day has taken place on the last day of February, a month known for having a ‘rare’ number of days.

On rarediseaseday.org you can find information about the thousands of events happening around the world on the last day of February. If you are planning an event, register your event details on the Post your Event page to get your event listed on the site!

Monday, February 26, 2018

Porphyria & APF

Is porphyria genetic?
Porphyria is a genetic disorder that is caused by an abnormality in the heme production process, which results in an accumulation of heme precursors.
Is porphyria hereditary?
acute intermittent porphyria (AIP) a hereditary, autosomal dominant, form of hepatic porphyria manifested by recurrent attacks of abdominal pain, gastrointestinal dysfunction, and neurologic disturbances, and by excessive amounts of δ-aminolevulinic acid and porphobilinogen in the urine; it is due to an abnormality of pyrrole metabolism.
Which doctors treat porphyria?
Because Porphyria is so rare, few physicians have experience treating patients with the disease. Most patients are in fact treated But the APF can help by putting your doctor's office in touch with a Porphyria specialist who can offer guidance on your care.

Please give us a call today if you need a comprehensive Physician Packet.  Would you like to know the facts about the types?
Do you need to find a physician or an expert near you.  When you contact the APF ask for Edrin.
Do you want to know how to get the free DNA?  Call APF!
Does your physician have questions?  Call the APF we can put them in touch with an Expert Porphyria Specialist!!
Want to know how to get involved with Research give us call!!!
ITS ALL FREE.  What are you waiting for?  1/866/APF/3635




Wednesday, February 21, 2018

Bright Ideas for Shadow Jumpers EPP


Bright Ideas!
This is a place for kids to learn from others with EPP, to share their own tips and tricks on things like what to wear, what to do for fun, insight for parents and so much more.  We want to add YOUR tips and tricks on managing EPP. If you are a caregiver, please ask your child with EPP to share their ideas through you. These could include...
·       What clothes and trends do you use when covering up from the sun?
·       What are the ways you adapt to do certain activities outside?
·       What are fun things you do to pass the time inside while the sun is out?
·       What have been your best vacations?
·       How do you manage in the car? Learning to drive?
·       What do you do when you feel sad or left out?
·       How do you manage going to school?
·       How do you describe your EPP to other people?
·       ...and anything else you think may be helpful to others!

These tips are helpful for all photosensitive types of Porphyria!
Please submit all your tips 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 have a bag prepared with a long sleeved shirt or light jacket, hat, gloves, and face cover (I use a bandanna, some use a buff) that I take with me on cloudy days so If it clears up I'm covered and don't put myself in DANGER. (Rob, EPP)
·       Our son wears a zip-up lightweight jacket with a hood in the summer so that more he can unzip it to get more air and stay cooler.
·       Buy inexpensive sports gloves (for example, at Five and Below).  We cut the tips off the fingers so that he can still manage things with his hands.
 
QUICK SHADE!:
·       Use a taller person as shade (Rob, EPP)
·       Walk next to buildings for shade (anonymous)
·       Tell teachers, coaches, other parents, etc. that THEY are your child’s quickest protection…just stand between them and the sun! (Kristen, caregiver)
·       Hold their hands to protect them from the sun – especially when you don’t have any gloves.
·       Always put your back to the sun.

SCHOOL:
·       Meet with teachers at the beginning of each year to explain EPP and offer guidelines for safety (caregiver)
·       Initiate a 504 plan for your child. (Ask the APF for a copy of a sample plan!)
·       Make sure your teachers know that your child needs a safe place for fire drills, recess, physical education class and field trips.

DRIVING:
·       Carry a blanket or towel in your car at all times and close it in the top of the window to provide shade. (Kristen, caregiver)
·       Have your car windows tinted with as dark as possible tinting that is allowed in your area.

VACATIONS:
·       We always bring along a canopy on vacation.  We can set it up wherever our son is to provide him some safe shade. (EPP caregiver)

THINGS TO DO INSIDE:
·       So often during the summer I would go to the movies while all my friends were away during the day at camp. From the popcorn to the cool temperature to combat the hot summer days, I would spend hours at a time throughout the week at my local theater.The downside? So many movies meant so many tickets which meant so much money spent.That’s why, with this new thing called MOVIE PASS, going to the movies has been more affordable. For one flat monthly fee of $9.95, movie passer customers can see one movie a day each day for the month. To sign up and too see theaters in your area qualify go to https://www.moviepass.com/

THINGS TO AVOID:
·       Remember that water and snow reflect the sun!

OTHER:
·       Hey Shadow Jumpers! Here’s a cool tip I wanted to pass along… (Craig, EPP)

People with EPP often check the UV index every day. I know I regularly check the UV index for the day to know what I should wear or think about doing. So often people traditionally check the newspaper or kids rely on their parents. Today I wanted to share with you some great UV Apps!

Wolfram Sun Exposure Reference App
Based on your skin type, what SPF you’re wearing and the UV forecast for your location, this comprehensive app can predict exactly how long you can stay in the sun before burning. Organizing a trip to the shore? Check out a five-day UV forecast displayed on a map, and find out what hours each day you should minimize sun exposure. ($0.99; available for iOS)
Ultraviolet ~ UV Index
Keep things simple with this cool tracker, which displays the current UV index in your area using a large, vibrantly colored circle. Blues and greens mean you’re in the clear while reds and purples mean a dangerously high index. General sun safety advice will tip you off for when it’s time to put on a hat, apply sunscreen or avoid going outside altogether. Just the bare necessities for when you’re bare at the beach. (Free; available for iOS)
EPA’s SunWise UV Index
The U.S. Environmental Protection Agency designed this easy-to-navigate application, which delivers location-based UV index information. Ideal for plan-ahead types, the most useful feature is the color-coded hourly forecast that makes it easy to spot when the UV index is highest. (Free; available for iOS and Android)

(PLEASE NOTE: This is a good tip to check the weather, but EPP reactions occur from visible light. UV Index applications and apps will ONLY indicate ultra-violet light, not the visible light range that affects EPP)

Friday, February 2, 2018

Introducing “Lighting the Moment 2018”

Introducing “Lighting the Moment 2018”

Introducing “Lighting the Moment 2018”
Some of the best moments we can have in our lives tend to come on vacation. We go to places we otherwise would have never gone to, we learn about cultures and traditions that once seemed so foreign and we grow through experiences that later become summed up by in inside jokes, “gotta be there” moments and with the people we took those trips with. And what is more memorable than those classic family trips with the family? The ones that live on in old photos, admired for the absurd fashion choice of the decade and those classic tales of who got sick at the worst time, who was “unamused by the Grand Canyon”, and so on. It is our belief that a vacation, more so a family vacation.
Family’s come in all forms, but every family deserves the same chance at doing and experiencing a great family vacation. And every family deserves to do that regardless of the sun. That’s why we at Shadow Jumpers have introduced “Light the Moment 2018,” a chance to help families with EPP go out and do something for a vacation they otherwise wouldn’t have tried. Let us do our best to show you the sun is worth taking on, if you know the right tricks, strategy and creativity to do it.
This year we will be sending our first family on a vacation this coming summer to the most magical place on earth, Disney World in Orlando Florida. The whole immediate family will be flown all expenses paid and put up in one of Mickey’s and Minnie’s favorite resorts. From there, be treated to access to every park. From the awe of Cinderella’s castle, to looking for captain Jack Sparrow or from blasting off with Buzz Lightyear and diving down with Nemo, there is something for everyone during the whole trip. With our help on food, merchandise and some surprises along the way, let us show you every family vacation, regardless of sun, is worth trying.
We will be sun-proofing this family every step along the way. From transportation while traveling in the park and cutting all lines in the sun to extended late hours in the park with the sun down, while also providing any & all clothing, let us worry about how you get from A to B while you worry about which ride to go on for the second and third times.
Check out the application here below. We want to hear from you and your family. Tell us about you, what makes your family that special kind of family? BE CREATIVE, show us what you got! Send photos, videos, songs, for goodness sake GET MAGICAL! The application deadline is MARCH 23rd.  

To Enter please click on this link: 
https://www.facebook.com/groups/190013374399363/1624752060925480/
Arrow down & click Download or Preview 
Good LUCK to everyone!

The Porphyria story of Victor LaFae with HCP

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