Wednesday, June 13, 2012

Andrew T. Story "Living life as a Young person with EPP"


Hello all I wanted to share a story with you his name is Andrew Turell he has EPP.   I thought you might want to read his story to understand what a young person goes through.  Enjoy reading and if you have a story you want to share please let me Amy Chapman know.

Type of Porphyria:
Erythropoietic Protoporphyria (EPP)


Andrew's Story

Although I was not diagnosed with porphyria until I was 10 years old, I have always suffered from the pain caused by spending too much time in the sun.  As far back as I can remember beach vacations and summer camp were always linked with itching, burning and sleepless nights.  Before I was able to verbally articulate the sensation, the only reason my parents believed that the pain was real was because I would continue to scratch my hands and face even once asleep (fortunately, I do not get blisters or other visible symptoms).

          I visited a number of doctors and was tested for a variety of allergies, but nothing stopped the reactions.  Every summer, I would inevitably experience a handful of painful reactions that would last between two and three days.  Ice packs and cool wet towels were the only things that could alleviate the itching and burning.  Unable to sleep, I would hole up in the basement because that was the coolest place in the house.

          By chance my parents after one of my reactions, my parents were talking to an acquaintance who is a dermatologist.  She diagnosed me on the spot without ever having seen me and suggested that I go to see Dr. Vincent Deleo.  I did so, and he diagnosed me, put me on Lumitene and recommended certain sunscreens.  Over time, I learned to take better care of myself and prevent reactions by reapplying copious amounts of sunscreen, wearing pants and long sleeves and avoiding sun exposure whenever possible.  Even with all those precautions, I still continued to suffer a few reactions year.

          Since I was a young kid, I have always loved baseball.  Despite my EPP, I have continued playing and have recently started coaching as well.  I wear long sleeved turtlenecks even on the hottest days of summer, and while playing baseball has caused the vast majority of my reactions, it has all been worth it.

          Last year, I participated in the Afamelanotide trials at Mount. Sinai Hospital in New York.  That summer, I spent more time outside than ever before and yet I did experience one bad reaction.

          Currently, I am a student at the University of Pennsylvania where I am active in my fraternity, Psi Upsilon, and play on the club baseball team, eagerly awaiting the approval of Afamelanotide by the FDA.


Monday, June 11, 2012

Read about the HEME POOL Taken from the APF



Imagine that the pathway is actually a river of porphyrins
and porphyrin substances which together flow into and
make up a big red-coloured pool called the Heme Pool. Like
a recipe, various ingredients (or porphyrin substances) are
added to this "river" at various stages to form the Heme
Pool. Along this river there are several gates (which represent
different stages of the Heme Pathway). These gates must
be opened fully by an operator in order to keep the proper
flow of the river into the Heme Pool. Each gate has a different
operator that has a unique key (which we'll call an
Enzyme Key) for the gate that he must open. The job of each
operator is to insert their Enzyme Key into their gate, and to
turn the key fully so that their gate will only open part way,
thus decreasing the flow of the river, resulting in a lower
level in the Heme Pool.
One day the operator at the third gate comes to work and
is not feeling well. Because of past incidences, we know that
when he wasn't well, he had taken medications that didn't
agree with him; drank alcohol; didn't eat all day; or got too
much sun. One or two of these things seemed to affect how
he did his job…specifically how far he could turn the
Enzyme Key in the gate. When he had exposure to these
"irritants" before, it could not open fully. Regardless, he still
has to go to work, since no one else can operate his gate.
Unfortunately, because his gate doesn't open fully, the flow
of porphyrins start the Pool to tell the first gate operator to
turn up the porphyrin tap to increase flow. "Heme levels are
decreasing!" they say, not even aware that the third gate
operator isn't doing his job properly. This keeps continuing
until there is a flood at the third gate. This flood puts the
whole flow into chaos until the operator at the third gate can
get back to normal. For this particular gatekeeper in the
past, having him take sugar often helped him get back on
track. In a worst case scenario, a specialist would have to
be brought in to help get the third gate operator back to work and restore normal operations. If only he would have known to stay away from those irritants, he may not have had any problems!

NIH Updated Info on the Porphyrias 3/22/17

  https://rarediseases.info.nih.gov/diseases/10353/porphyria Porphyrias are a group of blood conditions caused by a lack of an  en...