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Showing posts from February, 2018

What is Rare Disease Day?

What is Rare Disease Day? TAKE A LOOK AT THE EVENTS HAPPENING AROUND THE WORLD FOR RARE DISEASE DAY! Find out how you can Get Involved in 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 point 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…

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 Physic

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 p

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 t…