While cruising through youtube today, I ran
across the following video regarding a con-
dition I'd never heard of (albeit season 3
episode 9 of House had an individual with
the condition on that episode, I simply didn't ...

.... remember that, so I re-watched that epi-
sode today, the 6-years-young girl with EPP
is Alice Hartman, played by actress Alyssa
Shafer; the expert diagnostician, House, mis-
diagnosed it several times, eventually sche-
duling amputation surgery before it finally ...

.... was correctly diagnosed by Dr. Robert
Chase in his thinking about a comment
House had made earlier about sunshine
& puppies: "Right! She's sick! She's cute!
She can't have flesh-eating bacteria! It's
just wrong! Let's cure her with sunshine
and puppies!".

House had set up amputation surgery in
his last misdiagnosis of necrotizing facii-
tis. Chase interrupts House as House is
leaving in the hallway, saying "She's got
erythropoietic protoporphyria." House slugs
Chase, to which Chase responds by thor-
oughly explaining his diagnosis in a ...

.... desperate attempt to try to get House
to stop the amputation surgery. One sec-
ond before the surgeon starts amputation
of the girl's left arm, House calls, a nurse
answers the phone & tells the surgeon "stop"
just in the nick of time.

Dr. Cuddy explains the treatment to the par-
ents which in 2006 did not include the drug
described below as it wasn't made available
in Europe 'til 2014 & in the U.S. in 2019.):

Youtube video regarding that
condition called
Erythropoietic protoporphyria (EPP),
posted 7 years ago
https://youtu.be/KYyOai2R7q8

House season 3 episode 9: Finding Judas
https://house.fandom.com/wiki/Finding_Judas

.... All forms of porphyria are very rare in
the United States, occurring in about 1
out of every 25,000 people. However, the
disease is also very difficult to diagnose.
EPP is a deadly disease and has no cure.

The only way to treat it is to [prevent the
individual who has it from skin exposure
to sunlight] & seal off all the windows with
shades. EPP [individuals] must also wear
protective clothing when they are outdoors
to limit their exposure to UV radiation which
causes it.

Comment: Apparently, since that episode
aired on November 28 2006, & since the
youtube video about the 11-year-old girl
having EPP was posted 7 years ago, a drug
to increase the amount of time EPP indivi-
duals can spend in sunlight has been made
available, per the following article:

Erythropoietic protoporphyria (EPP) and
X-linked erythropoietic protoporphyria (XLP)

.... Afamelanotide (Scenesse®) is currently
the only treatment for which safety and effec-
tiveness have been demonstrated in clinical
trials. It was authorised for use in the Euro-
pean Union in 2014 and in the USA in 2019.

Treatment with afamelanotide significantly
increases the time EPP patients can spend
in direct sunlight without pain and increases
their quality of life.

Afamelanotide is administered as an implant
which is injected under the skin above the hip
every two months. Mild side effects have been
reported. Afamelanotide is not yet available in
all European countries.

Description of EPP & XLP

EPP is an ultra-rare disease that was first des-
cribed in 1961. People with EPP suffer from
skin pain that starts after they have been out-
doors in the sun or exposed to strong artificial
light. The symptoms start in early childhood &
can be very painful.

EPP is an inherited disease. It has been found
in 1 out of 58,000 to 200,000 people in Europe
(per the House episode mentioned above, the
U.S. rate is 1 in 25,000 but I don't know if that's
simply inaccurate or if the Europe rate is actu-
ally lower than the U.S. rate for some reason)
but is rare in people from Africa.

Sidenote: On a brief search, 9.6 million blacks
are in Europe which has a total population of
over 746 million in 2018, so with 13.6% of U.S.
population being black compared to 1.3% of
European population being black, that would
not explain the supposed lower European inci-
dence indicated above.

Per the following wikipedia article, case reports
suggest that EPP is prevalent globally. The pre-
valence has been estimated somewhere between
1 in 75,000 & 1 in 200,000.
https://en.wikipedia.org/wiki/Erythropoietic_protoporphyria

So, with estimates varying widely, difficult to de-
termine what the actual incidence is, albeit with
the comment that it's "rare in people from Africa",
one would expect a very low incidence in most
if not all African countries, related to how dark
one's skin is (?), darker skin = lower incidence,
perhaps?

The symptoms of EPP is due to a build-up of
high levels of the natural product called proto-
porphyrin during the making of red blood cells
in the bone marrow.

~~~ end excerpt ~~~

The 11-year-old is now 18 or thereabouts, her
name is Savannah Fulkerson, & she & her older
sister made a youtube video 2 years ago. I was
hoping she'd update us on her use of the drug
mentioned above, but the video doesn't men-
tion that drug.

EPP tips and advice!
https://youtu.be/NFG92193mxk

So, I don't know if she tried the drug & decided
to not continue using it (for some unknown rea-
son) or if for some reason (possibly, an unmen-
tioned unpleasant side effect) she decided not
to use that drug. Information about that drug:
https://www.drugs.com/history/scenesse.html

Sidenote: Since EPP wasn't discovered 'til 1961,
I presume it was a deadly debilitating disease
of pain & death 'til then, & 'til 2014, the only way
to deal with it was the way Savannah Fulkerson
was & perhaps still is dealing with it.

Sidenote 2: As I often describe my condition of
Islit (Insulinitis) in a very negative way, the EPP
condition is but one of many examples of the
multitude of conditions the human body has to
deal with that sooner or later kills every one of
us. Oh well, such is life.

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