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Focus on X-Linked Protoporphyria (XLP)
X-Linked Protoporphyria (XLP)
Erythropoietic Protoporphyria (EPP) is a rare inherited metabolic disorder characterized by a deficiency of the enzyme ferrochelatase (FECH). When EPP is due to an ALAS2 mutation it is termed X-linked protoporphyria (XLP), because that gene is found on the X chromosome.
XLP Member Spotlight - Jason Marcero
Thankfully, I don’t remember that heartbreaking day at a hometown Michigan beach as a young toddler – when my family learned I had inherited our family’s so-called “allergy to the sun.” The agonizing reaction to sunlight I endured, which left physical scars visible even today, was actually caused by what we now know as X-linked protoporphyria (XLP). I have always enjoyed being outdoors and even played Little League baseball while wearing long sleeves and gloves (no matter the temperature). My stubborn reluctance to say indoors despite my affliction with XLP resulted in many sleepless summer nights as a child in front of a fan, with cold compresses wherever I had been “burned.” But that same “fighter’s mentality” back then is what has ultimately driven me into science and scientific research on the porphyrias as an adult and father of a daughter with XLP. Now, after working in industry and education for years, I am finishing my doctoral program at the University of Georgia, where I am continuing the fight against the porphyrias “on the front lines” – as both patient and research scientist.
Pictured: Jason Marcero with daughter Wren, Age 6
Both live with XLP
XLP Member Spotlight - Zach
"My name is Zach. I'm 11 years old and have XLP. XLP prevents me from playing with my friends sometimes and from doing outdoor activities. I can't participate in field day at school - I get to skip that day every year. I have to wait for the sun to go down to go out on my trampoline. I wear hoodies almost every day so I have pockets and a hood to protect me from the sun. When I was at 5th grade camp (my Dad had to be a chaperone to make sure I was excused from certain activities) a staff member wanted to take a group picture. She told me to take off my sweatshirt and hood because she thought I was goofing off because it was so hot outside. I told her I couldn't and my friends stuck up for me as well. Another time I was waiting for the bus at school and we had to wait in the sun. I tried to go stand by the building in the shade and got in trouble for doing that. A really hard part of having this disease is people don't believe you when you tell them you can't be in the sun. I know there are people with much worse things than mine, but I wish it would just go away."
Pictured: Zach, Age 11
Lives with XLP
SEND US YOUR PHOTOS AND STORIES FOR A
SATURDAY #PorphyriaAwarenessWeek ROUND-UP
Purple shirt? Purple Hair? Purple Nails? Furry friends?
An interesting conversation?
Send your pictures and/or stories to firstname.lastname@example.org
This year, the APF has bandanas for sale in the online store. These stylish purple gems make a great fashion statement. Wear them as a scarf, around fidos neck, tucked in jeans, as a face cover - you can't go wrong and you'll be promoting awareness all year round!
Wear Purple Day!
Show your support and awareness efforts by wearing purple in honor of Porphyria Awareness Week.
The terms porphyrin and porphyria are derived from the Greek word porphyrus, meaning purple. Urine from some Porphyria patients may be reddish-purple in color due to the presence of excess porphyrins and related substances in the urine, and the urine may darken after exposure to light.
#AskMeAboutPorphyria encourages you to educate your local community and healthcare professionals through encouraging a conversation about Porphyria and the impact it has on you. One conversation can make a difference.
Have you had a good conversation about Porphyria? Share with us email@example.com