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Charlie suffers from Erythropoetic protoporphyria. Erythropoetic protoporphyria is VERY rare. Affecting roughly ONLY 200 people worldwide.
It is a metabolic disorder that essentially makes her VERY allergic to the sun.
Most people with this disorder have one copy of the gene that doesn't work, but the other works to some capacity and they are able to metabolize porphyrins. In Charlie's even more rare version of EPP, both copies of the gene do not work at all and are causing the porphyrin build up in her liver. (This is a rough explanation. Science can be complicated!) This build up will occur despite her parents best efforts to protect her from the sun and UV lights. However, exposure will increase the speed of the build up and hasten the damage.
Charlie needs a bone marrow transplant. She will be in the hospital for a minimum of a month. Because of this extended stay, Charlie's parents will have to take time off work to be with her. This campaign is to raise some money to help Charlie's family cope with the bills and expenses during her stay.
The hope is that a BMT (bone marrow transplant) will reset her blood system and give her body the ability to create the enzyme and be able to break down porphyrins. And if it is done soon enough, her doctor believes it may save her liver from needing a transplant too!
A rough timeline, if all goes well, the earliest BMT date could be in September. They have already sent Charlie's samples off to get sequenced and find a match. It takes a few months for them to get it all sorted.
The procedure will be a minimum month long hospital stay if it all goes well. Longer if complications or GVHD arise. Afterwards they will need to go to the hospital 3-5 times a week for a long time. It is a long procedure.
So, in the end, porphyria sucks. But Charlie kicks ass.
Keep us in your thoughts and prayers.
- Laurence Dyck
- Josephine Grace
Melody Zandbergen McGillivray