FOCUS ON CONGENITAL ERYTHROPOIETIC PORPHYRIA (CEP) and ALAD-DEFICIENCY PORPHYRIA (ADP)
CEP Member Spotlight - Justin Hamilton
Read About Justin's Porphyria Story
Update on Justin’s battle with CEP: Justin is still fighting constant eye problems due to CEP. We have learned that using sunglasses that have padding around on the inside helps more than regular sunglasses. He still fights with sores and blisters, he uses a lotion called Renew that really helps heal his sores faster without leaving as much scarring. He also takes daily vitamins and collagen. Wearing gloves when out and keeping your hand and face covered as much as you can are key. During this pandemic it’s also been important to stay home as much as possible especially with someone who already is compromised. Hope all of your are staying safe during this time. Remember you are not alone, and can always reach out to Justin and I even just to vent, for advice, or really anything.
Congenital Erythropoietic Porphyria (CEP)
Congenital Erythropoietic Porphyria (CEP) is a very rare inherited metabolic disorder resulting from the deficient function of the enzyme uroporphyrinogen lll cosynthase (UROS), the fourth enzyme in the heme biosynthetic pathway.
CALL TO ACTION - HELP THOSE WITH CEP!
In this time of increased energy efficiency with LED light bulbs, patients with CEP are suffering. CEP damage is activated by all types of light that emit UV, especially LED due to the effect of this high demand lighting. The safest light for those with CEP is incandescent light. Incandescent light bulbs DO NOT emit any UV, as they actually emit UVA rays. The issue is that these bulbs are increasingly difficult to find in stores with the move toward energy efficiency. If you have any extra incandescent lights in your home or see them in a store - the APF will collect them from you and distribute the bulbs to our members with CEP.
Please email email@example.com for shipping destination.
Thank you for your action that will have a big impact for your porphyria community friends.
ADP Member Spotlight - Milton Cubas
Read About Milton's Porphyria Story
ALAD-Deficiency Porphyria (ADP)
ALAD Deficiency Porphyria (ADP) is rare and is characterized by almost complete deficiency of the enzyme delta-aminolevulinic acid (ALA) dehydratase. ADP is more severe than the other acute Porphyrias and can present in childhood. Only ~10 cases have been reported worldwide.
Do you want to share your story? Email firstname.lastname@example.org
IS YOUR LEGISTLATOR A MEMBER OF THE RARE DISEASE CAUCUS?
Check it out here
Influence your state legislators
Recently, the APF invited Congressional non-members to join the Rare Disease Caucus. We are pleased share that the Rare Disease Caucus has 9 new members bringing the total membership of the caucus to 170, including - 146 Representatives and 24 Senators.
Can we do more? Ask your state representative to join the Rare Disease Congressional Caucus in support of rare disease and Porphyria Awareness Week. You can find a copy of the press release on the Porphyria Awareness Week homepage. If you would like us to send it on your behalf or need help finding your representatives, please email Edrin Williams, Director of Patient Services: email@example.com
Facebook Live with Dr. Bruce Wang - Save the date! Dr. Wang will be present during a FB live event on Wednesday, April 22 at 7:30 PM - EST. Please make sure that you are following the APF FB Page.
#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 firstname.lastname@example.org