Ana Paula Case History
Ana Paula is the twin sister of Alejandro Jr. (Alex) and they were born in St. Louis, Missouri, on March 30, 2000.
First children of Adela and Alejandro Chavez, both Mexican, the babies arrived after a long waiting period. Their conception was the result of in vitro fertilization. Born prematurely, after a seven-month normal pregnancy, Ana Paula weight was 2.1 Kg and Alejandro’s 1.6 Kg.
The children’s development was closely monitored by their parents due to their premature birth and low weight.
Parents noted that Alex bruised easily; he suffered minor brain damage with no sequels. It was caused by a deficiency in vitamin K due to liver dysfunction.
Dr. Heubi at Cincinnati Children’s Hospital found the problem. Alex was not producing bile, and recommend Alex to enter in a research program having supplemental Cholic Acid (Bile) to improve his metabolic performance and vitamins absorption.
Dr. Heubi asked parents to check Ana Paula, the twin sister, because there was the possibility of both children were having a more generalized metabolic disorder. This could be determined by checking the body’s ability to metabolize Very Long Chain Fatty Acids (VLCFA).
The level of VLCFA’s in both children was very high, which means that they were not able to produce enough enzymes to break the fatty acids. Many of these enzymes (more than 40) are produced in little organelles inside the cell, the peroxisomes.
The official diagnosis was Infantile Refsum’s Disease, and this is a generalized disorder of the peroxisomes.
Shortly thereafter, an involuntary vibrating movement of the eyes was noted in Ana Paula, a condition known as nystagmus, also a symptom of a metabolic disorder.
Ana Paula was taken to Barcelona, where Dr. Manuela Martinez was doing research finding out that supplemental DHA Ethyl Ester (97 % concentration) was helping in the performance of the peroxisomes, especially in the production of plasmalogens, the most abundant phospholipid in the myelin. Deficiency of plasmalogens causes profound abnormalities in the myelination of nerve cells, which is one of the reasons why many peroxisomal disorders affect the nerve cells and with them the vision, brain and hearing capabilities.
Ana Paula arrived in Barcelona in September of 2001, when she was 18th months old. She had nystagmus and her myelinization at that time was estimated to be below 30%.
After one year of DHA EE supplementation, her nystagmus disappeared (in 10 days) and myelinization was estimated to reach above 90%. VLCFA’s were normal, and tests showed drastic improvements in DHA, plasmalogens, vision, muscle tone, MRI, and liver function.
Several trips to Barcelona in the following years helped Ana Paula to have the right stabilization of her disease by Dr. Martinez.
After have been Ana Paula´s guardian angel, on November 12, 2010, Dra. Manuela Martinez passed away, leaving Ana Paula on her own.
With DHA EE plus diet low in phytanic acid, (a by-product found in ruminants–cow and goat fats–and in green leaves), Ana Paula is growing healthy and moving forward in her life.
Ana Paula is 14 and attends Middle School in México.
She uses hearing aids, glasses and had a cochlear implant in 2011.
Her performance in school is behind kids her age, however, she is very enthusiastic. She belongs to the school swimming team and is a happy girl.
Ana Paula is aware of her own handicap, however, she does not realize in full the gravity of her disorder. She deals with frustration when she can not reach the level of her age, however, that’s the reality Ana Paula has to face.
Congratulations to Ana Paula upon graduation from Middle School in 2017!
History of Ana Paula’s liver enzyme function tests: Treatment with both cholic acid and DHA-EE resulted in Ana Paula’s liver enzymes were within normal limits.