Chavez Family

THE CHAVEZ FAMILY CASE

 

 After 5 years of trying to have family, Adela and Alejandro Chavez finally received the good news that the in vitro fertilization had been successful and they were expecting twins.

 

 

Adela delivered Ana Paula and Alex on March 30th, 2000.  Year and a half later, the Chavez family received a devastating news, both children have Infantile Refsum’s Disease (IRD), a generalized dysfunction of the peroxisomes, small organelles in the cell in charge of the breakdown of several compounds, including the Very Long Chain Fatty Acids (VLCFA)and the biosynthesis of the plasmalogens.

 

 

Plasmalogens are a key component of the myelin, the substance that covers and protect the nerves cells in the body. Its deficiency affects the vision, brain and earing capability.

 

The news was overwhelming and the parents were devastated and filled with sadness and pain.

 

 

Adela and Alejandro cried for a couple of days until they realize it was the God will to have them taking care of these children. There was no chance for bad luck, as this disorder was genetically determined, the probabilities of having both babies with the disease were low. They think  God decided that both children suffered the same problem in order to keep each other company in life, and His command made Ana Paula and Alex happy.

 

Adela first reaction was to research IRD on the Internet. The information was devastating. Sad cases, a dramatic outlook, an uncertain future, a short life span, blind and deaf children…we decided to live our lives with one day at a time approach. “today the children are OK, today they were happy.”

 

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 EE) 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. 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. Also, the group was full and another one would not begin for another six months. Time was something that Ana Paula and Alex 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 DHA EE study. She informed them that the DHA EE would not cure the disease, however, it could help perioxisomes to perform better.

 

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 of 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 high concentrated (+97%) DHA EE. Shortly thereafter, Ana Paula’s nystagmus disappeared. A year-and-a-half later, the Chavez children were living proof of what DHA EE can do in the treatment of children with IRD. The myelin surrounding the brain cells was normalized, the retinitis pigmentosa and hearing loss show no sign of change, the VLCFA levels are normal, and their muscle tone is good.

 

ale_anapaula

 

Alejandro and Adela thank God every day for having brought Dr. Martinez to their lives. It was like a miracle encounter the day that Alex, Ana Paula, and Dr. Manuela Martinez got together to make a single lifeline. It was like Dr. Martinez was preparing herself for many years before our kids were born to save them. The Manuela Martinez Foundation was an instrument that will help the fund-raising effort to support her research.

 

Shortly after the diagnosis, the Chavez family returned to Mexico City. They decided to return to Mexico where they were close to family and friends. Living in a monolingual environment was also part of the decision.

 

Nothing last forever and Dr. Manuela Martinez passed away on November 12th, 2010, leaving Alex and Ana Paula when they were 10 years old.

 

The kids are now 14, attending mid school in Mexico. They are behind kids their age, however, they  follow every day Dr. Martinez recommendations:

 

Eat all kind of food but fat from ruminants (beef, cow and goat milk fat – chocolates)  and vegetable with green leaf. (Avoid phytanic acid, high in those kinds of foods)

 

Daily supplementation of DHA EE, Cholic Acid, Vitamins ADEK. As science evolves, we have been growing the list including other dietary supplements as glutathione, lutein, and arginine.

 

We were thrilled when the Cell Science Magazine of February 2012,  Dr. Itoyama et all reported the importance of DHA for the peroxisomes proliferation,

 

In fibroblasts isolated from patients that carry defects in peroxisomal fatty acid β-oxidation, peroxisomes are much less abundant than normal cells. Treatment of these patient fibroblasts with DHA induced the proliferation of peroxisomes to the level seen in normal fibroblasts. DHA-induced peroxisomal proliferation

 

Also the magazine Orphanet Journal of Rare Diseases published in the September 2013 issue the article:

 

Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder

 

Despite gene therapy and medicine has not found a way to cure people with IRD and peroxisomes disorders, there have been advances in knowing how peroxisomes work and how they can be helped to improve their performance. We ask ourselves, “what a brilliant mind like Dr. Martinez would have recommended us after all these findings?” and then we act accordingly.

 

Dr. Nancy Braverman from Mc Gill University is running interesting trials using Betaine to improve Peroxisomes performance as well.  Alex and Ana Paula have been invited to join this group and we are considering to include them in this research.

 

Alex and Ana Paula’s future is as uncertain as any other human being. In spite of the children’s progress and of how good they look, we do not take anything for granted. We can not allow our imagination to run wild,  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 happy and with the highest quality of life within their reach.

 

The Chávez Family.