Case History: Ana Paula and Alejandro Chavez

Missouri, USA, Mexico

Ana Paula and Alejandro Chavez were born in St. Louis, Missouri, on March 30, 2000. First born 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.

A few months after the twins’ birth, it was noted that Alejandro bruised quite easily. He even suffered a minor brain damage with no sequels. Subsequent tests showed a deficiency in Alejandro’s blood clotting process due to a deficiency of vitamin K. This led the doctors to think that there could be a possible liver dysfunction. After more tests, it was determined that Alejandro’s liver did not produce bile, only its chemical precursor. At that point, Alejandro entered a research program lead by Dr. Heubi in Cincinnati, and was given cholic acid (bile) in order to compensate for his body’s inability to produce it. Dr. Heubi informed the Chavez that Alejandro’s problem was genetic and affected the body’s metabolism. There was the possibility of a more generalized metabolic disorder. Dr. Heubi posed two critical questions. The first one was whether or not Ana Paula had been tested. Since the time the bruising began and along with it all the testing, Adela and Alejandro stopped monitoring Ana Paula as closely as they had and focused mostly on Alex. After all, there was not anything noticeably wrong with her. In addition, if Alejandro’s disorder was genetically determined, Alejandro’s chances of getting it were 1 in 4 (25%) and Ana Paula’s 1 in 16 (6%). The parents did not think it likely for both children to suffer from the disorder. "God wouldn’t do this." They thought. The second question was whether further testing had been done in order to rule out the possibility of a more generalized metabolic disorder. This could be determined by checking the body’s ability to metabolize Very Long Fatty Acids (VLFA). 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. Parents and doctors decided to do further testing. To the parents’ disbelief, it was determined that the children’s fatty acid levels were very elevated. This meant that the twins did not produce enough enzymes. Enzymes are produced in the perixomes which are small organisms within another organism of the cell called mitochondria. The children’s perixomal disorder meant that every cell in their body was affected. The official diagnosis was Infantile Refsum’s Disease. The news was overwhelming and the parents were devastated and filled with sadness and pain. "We cried for couple of days until we realized that this was not chance or bad luck. God was putting forth the task to make Alejandro and Ana Paula happy. God decided that both children suffered the same disease in order to keep each other company in life. We decided that the word pain had to be erased from our vocabulary and to joyfully execute the difficult task that God had placed before us." Comments Alejandro Sr.

"My first reaction was to research IRD in the Internet. The information was devastating. Sad cases, a dramatic outlook, an uncertain future, a short life span…One had to take the AA attitude, today the children are OK, today they were happy." States Adela. The internet search yielded a couple of names, Dr. Raymond the leading IRD researcher in John Hopkins Medical Center in Baltimore and Dr. Manuela Martinez a researcher in the Val de Hebron hospital in Barcelona. Another important finding was the use of docosahexaenoic acid (DHA) in the treatment of patients with perixomal disorders. In 1987 it was discovered that patients with perixomal disorders exhibit a deficiency of DHA. DHA is needed for the healthy development of the brain and the retina (Retinitis Pimentos is one of the characteristics of IRD). Both doctors were doing researching the use of DHA in IRD patients; however, Dr. Raymond was running a double blind group which meant that if the twins entered the study they could be given placebos. In a phone conversation with the Chavez he stated that DHA was not a solution for the problem and that a cure would not be found for at least another 10 years. On the other hand, the current study group was full and another one would not begin for another six months. As with all disorders affecting a child’s development, time is something Ana Paula and Alejandro could not afford to waste.

The Chavez contacted Dr. Manuela Martinez in Spain and she strongly encouraged them to fly to Barcelona as soon as possible in order to evaluate the children and to include them in a study that began in 1991.

The children’s first visit to Barcelona was in September 2001. They were 18 months old. The initial consultation with Dr. Martinez showed deficient levels myelin surrounding the brain cells, small pigmented areas in the retina signaling the death of some cells (retinitis pigmentosa), diminished hearing, and high levels of fatty acids. With a grim prognosis, but much hope and faith, the Chavez twins started treatment with DHA. Shortly thereafter, Ana Paula’s nystagmus disappeared. A year-and-a-half later, the Chavez children are living proof of what DHA can do in the treatment of children with IRD. The myelin surrounding the brain cells has normalized, the retinitis pigmentosa and hearing loss show no sign of change, the VLCFA levels are normal, and their muscle tone is good. Alejandro and Adela thank God every day for having brought Dr. Martinez to their lives. "Sometimes we ask ourselves what would be of the children without Dr. Martinez. One feels great impotence when the material resources are not available to support the research that could hold the key to one’s children’s future. We worry about guaranteeing that the research related to this disease will go on. Typically, government grants are allocated to the research of illnesses that affect many individuals. Infantile Refsum’s Disease is so rare, that only a few cases are known. The Manuela Martinez Foundation is an instrument that will help the fund-raising effort to support her research."

Shortly after the diagnosis, the Chavez family returned to Mexico City. "We decided to return to Mexico where we are close to our family and friends. Living in a monolingual environment was also part of the decision." States Alejandro. Currently, Ana Paula and Alejandro attend a Montessori school in Mexico City. Their development is almost that of other children their age. They continue to receive language and physical therapy. They love to swim and recently began horse-back-riding. Alejandro and Ana Paula’s future is as uncertain as that of any other human being. Today they are happy children who are growing surrounded by the love of their parents, family and friends. "In spite of the children’s progress and of how good they look, we do not take anything for granted. We still live day by day providing support for the children wherever it is needed. We can not allow our imagination to run wild with dreams and plans about the future that may not become a reality. Our dreams are focused on today. Tomorrow’s dream is the same as today’s: no matter what happens, we want our children to be as happy as possible and with the highest possible quality of life within their reach. Thank you God, Dr. Martinez, and DHA for making our dream a reality one day at a time." Concludes Adela.