👀 What an eye-opening experience!
🩺After attending the webinar about Diagnosis Of Rare Diseases, by RD-Portugal with The Ordem dos Farmacêuticos, I had the privilege of meeting Ana Rita Moreira and Luis Miguel Oliveira. Dani's parents, a really cute boy who has, unfortunately, been diagnosed with a rare disease caused by a v-ATPase genetic disorder, which causes developmental and epileptic encephalopathy. A condition that has no known treatment, and is very limiting for children.
👫 As strong-fighter parents who couldn't consent to the lack of knowledge and medical support for their child, they founded the v-ATPase Alliance Association, uniting families affected by v-ATPase genetic disorders, and promoting treatment research and development.
🔬 It is with great honor and enthusiasm that I have become part of this research group, aiding in the search for a treatment discovery! In collaboration with RARE-X, we are starting to build an innovative Data Collection Program 📚 that will allow us to advance research , therapy, and drug development. 💊
🙍♀️ This is a really debilitating condition, where children and their families face enormous daily challenges. If you want to help this mission feel free to share this program or give a kind donation.
🤲🏼 https://lnkd.in/dmjT2QZX
🧬 v-ATPase Alliance: https://lnkd.in/dbDMUvZe
We are very excited to publicly share the first snippet of data collected from our v-ATPase Data Collection Program. We're starting to acquire patient data in a systematic fashion to uncover how v-ATPase-related disorders look like and support development of treatments.
Although none of this is novel for those who live with this condition every day, the emerging data illustrates how debilitating this condition can be for children. v-ATPase malfunctioning takes a big toll on children affecting almost all symptom domains.
This is where we need your help. Our children and their families face enormous challenges daily, and with your generous donations, we can move faster to find effective treatments for them. Please consider making a donation today to support our mission. Thank you! 🙏
https://lnkd.in/dmjT2QZX
(cc Angel Aledo-Serrano, Ricardo Morcos, Eva Bernardino, RARE-X, Global Genes, Critical Path Institute (C-Path), Rare Epilepsy Network (REN), RD-Portugal, SERaro.pt)
Thanks for supporting our efforts!