New Mexico: Rare genetic condition

This story may have general implications for those of Jewish ancestry, and particularly those with Hispanic and/or known Converso or Sephardic ancestry.

While researching a a recent posting on genealogy and health issues for the MyHeritage.com Genealogy Blog, this 2004 New York Times article popped up.

In 1598, Joyce Gonzalez’s great-great-great-great-great-great-great-great-great-great-grandfather followed the famous conquistador Juan de Oñate from Spain to Mexico, then north on the Camino Real, the Royal Road to Santa Fe.

Mary Ann Chavez and her brother, above, are among the family members who suffer from oculopharyngeal muscular dystrophy. In the 1800s, one of Mary Ann Chavez’s distant relatives, possibly a French fur trapper and trader from Quebec, also made his way into northern New Mexico. Mrs. Chavez and Mrs. Gonzalez, though not related, share a Hispanic heritage and a fascination with genealogy.

They also share the burden of having forebears with genetic diseases that, like the remote mountain villages in this region, have remained largely hidden from medical diagnosis and treatment. Now, thanks to the efforts of patient advocates and the work of a clinic here at the University of New Mexico Medical School, these illnesses are finally being confronted and studied.

“We call it the family curse,” said Mrs. Chavez, 73, “and you don’t know you’ve got it until you’re 40 or 50 when your eyelids start to droop, and you begin to have trouble swallowing and get muscle weakness.”

The illness is called oculopharyngeal muscular dystrophy, or OPMD, and the largest group of Americans affected are Hispanics living in northern New Mexico. They are descendants of the wandering French-Canadian or, perhaps, early Spanish colonists. Mrs. Chavez’s son, her brother and innumerable aunts, uncles and cousins have all inherited the disease.

The family names referenced in the article are confirmed Sephardic names, listed in Pere Bonnin's Sangre Judia and on Sephardim.com. Oñate himself is considered to be of Converso ancestry, according to researchers, and most of the settlers in his expeditions were of similar background.

Considering that the geographical area covering this genetic disorder is northern New Mexico, where there is a very high percentage of the familias viejos ("old families"), it is possible that there is a Jewish element to this. I'm also wondering if southern Colorado, also a hotbed of Converso ancestry, has a population with this condition as well.

The fact that it has been found in Spain, Israel, France and England - all destinations populated by Sephardim and Conversos leads me to these suppositions. Tracing the Tribe is trying to find more information and will post when it is discovered.

Meanwhile, this is a fascinating story. Aren't newspaper archives wonderful resources? I'm amazed that I haven't seen this story before. If either of these conditions sound familiar or you know people who may have these symptoms, checking with a doctor seems a reasonable idea.

The genetic mutation OPMD was first identified by Canadian researchers in Quebec, which has the largest OPMD population in North America. The defective gene is thought to have been introduced by three French sisters who came to Canada in 1648. It is now found in 29 countries, in addition to those listed above.

Mrs. Gonzalez’s disease is cavernous angioma, also called CCM, for cerebral cavernous malformation. It is caused by abnormal blood vessels that form raspberrylike clusters in the brain and spinal cord. If these angiomas bleed or press against structures in the central nervous system, they can produce seizures, neurological deficits, hemorrhages and headaches.

Cavernous angiomas occur sporadically in the general population, but 20 percent are inheritable, and the disease is found at a much higher rate in Mexican-American families, particularly in northern New Mexico. Like OPMD, it is an autosomal dominant disease, meaning that each child of an affected parent has a 50 percent chance of inheriting it.

According to the story, the gene CCM1 seems to be found only in Mexican-Americans. Gonzalez persuaded nine relatives to undergo genetic testing; five tested positive for the CCM1 gene and all had angiomas in their brainstems.

“The Hispanic families that have lived here for 300 or 400 years — we’re practically all cousins,” she said. That led her to trace the genealogies of four other Hispanic families with histories of cerebral cavernous malformation. She held a complex genealogical chart whose five converging family trees pointed to Gerónimo Márquez, the 16th-century patriarch of her family. “He could be the guy that brought it for all of us,” she said.

A volunteer support group, Angioma Alliance, is headed by Dr. Connie Lee who estimates that tens of thousands of Hispanics carry the CCM1 gene. For CCM patients, genetic testing and MRI tests have improved diagnosis and monitoring, with treatments including medication for seizures and headaches, and neurosurgery for angiomas that can be accessed.

For those with OPMD, treatments include so-called sling procedures in which the eyelid is drawn up to a normal position and suspended from a muscle in the forehead. Swallowing difficulties may be treated with esophageal dilation, or Botox injections to relax the swallowing muscles.

Another physician from the University of New Mexico Medical School is quoted and says that because Mexican-Americans live all over the US, health professionals and patients - especially those in the Southwest - need to be aware of symptoms such as seizures, recurrent headaches or strokelike symptoms, and individuals need to tell their doctors about angiomas or cavernous malformation. In the case of OPMD, she says that droopy eyelids and swallowing trouble may be more than just a family trait.

If these symptoms are in your family, check with your doctor.

Read the complete article at the link above.