Eithan Arana, two years old from Ecuador with married parents, and with a five-year old brother. Eithan was diagnosed with propionic acidemía. Our story began on April 18, 2021, when Eithan was 9 months old, he presented his first symptom, which was focal seizure in his right foot. He remained hospitalized for 6 days in the pediatric hospital, including two days in the intensive care unit during his stay. They carried out laboratories, most of them in their normal parameters, except for the magnetic resonance imaging that was altered with a possible metabolic pathology. After his discharge from the hospital, he became hypotonic, a pediatric geneticist sent his expanded metabolic screening outside the country because the diagnosis was not clear, and they decided to send the genetic test to the United States. The result came out positive for propionic acidemia with variants in the PCCB.

Since July 15, 2021, this hard fight begins in our country for not having a specialist in pathology. Eithan was not gaining weight; he reached a point where he seemed like a cachectic child. I began to ask for help in other countries on how I could help my son. I thank God for coming across the Organic Acidemia Association, We have had a year of constant struggle with the government of Ecuador. I have been trying to see if they could facilitate Eithan’s medications and formulas here in Ecuador. We have had reunions with national government officials and my attempts have failed on several occasions. We have traveled 8 hours from our home to the capital of Ecuador for bureaucratic paperwork but have been unsuccessful. We don’t lose hope that one day Eithan gets what he needs medically. Eithan has a general pediatrician and a gastroenterologist, who have put a lot of effort into Eithan’s case. We have been following the medical recommendations from the NIH in the pharmacological part of Eithan’s case. On the nutritional part, we have been following the indications of Dr. Singh. I have asked other parents from the association for help with his formula, and we are very grateful to the parents that have donated specialty formulas for Eithan! I hope in the future, it becomes a reality that my Country helps us. My son is already walking. He’s not at his idle weight. He’s very sociable. In his short life, he has had two hospital stays.

We would like to thank Kathy for all of her help! She has been helping me to get in contact with many doctors, specialists, and philanthropists that want to make a change in Ecuador, they want to save so many lives with Newborn Screening! The Organic Acidemia Association has helped many children here in Ecuador get formula. Unfortunately, here in Ecuador we don’t have a great health care system for our children, and we don’t have the formulas needed for our children. Many children are hospitalized not thriving, because doctors don’t know how to take care of rare diseases such as Propionic Acidemia, Methylmalonic Acidemia, Maple Syrup Urine. I’m very thankful for OAA trying to help us. I’m flying from Ecuador to the USA to meet with a couple of doctors. Thank you OAA for all of your help in setting up the conference with the doctors! With this conference I plan to learn and bring the knowledge back to Ecuador. I’m a doctor and the mother of Eithan, my little boy that has PA and nothing would bring better joy to me in helping my son and the children in Ecuador thrive and have a better quality of life! Thank you OAA!