• Alex and his twin sister Ana Paula 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.

• Alex was taken to Barcelona, where Dr. Manuela Martinez did 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.

• Alex arrived in Barcelona in September of 2001, when he was 18^th months old. His myelinization at that time was estimated to be below 30%.

• 

• After one year of DHA EE supplementation, myelinization was estimated to reach above 90%, VLCFA 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 Alex to have the right stabilization of his disease by Dr. Martinez.

• After have been Alex´s guardian angel, on November 12, 2010, Dra. Manuela Martinez passed away, leaving Alex on his own.

• With DHA EE plus diet low in phytanic acid (a by-product found in ruminants–cow and goat fat–and in green leaves), Alex is growing healthy and moving forward in his life.

• He is 14 and attends Middle School in México.

  • He uses hearing aids.

  • His performance in school is behind kids her age, however, he is very enthusiastic. He loves soccer and swimming.

• Alex is aware of his own handicap, however, he does not realize in full the gravity of his disorder. He deals with frustration when he can not reach the level of his age, however, that’s the reality Alex has to face.

Congratulations to Alex upon graduation from Middle School in 2017.  Alex is a great water-skier!

History of Alejandro’s liver enzyme function tests:

Cholic acid supplementation started shortly after the August 23, 2000, significantly lowered liver enzyme function tests (ALT 119 to 47; AST 320 to 71).

DHA-EE supplementation, began September 2001, lowered liver enzyme function tests even further (ALT 39 to 9; AST from 129 to 86).