San Jose Mercury News
Mon, July 01, 2002
By Loretta Green
KEEPING SOPHIA HEALTHY, ALIVE
If there is one clear thing about the quest to save 13-month-old Sophia Herzog Sachs' life, it is that it reaches out to us all. It includes Western pediatricians and Eastern herbalists.
It includes neighbors as well as strangers. It includes prayer circles and those with just plain beliefs and wishes.
The diagnosis is that this tiny charmer of a toddler with large brown eyes will die from Type A Niemann-Pick disease. And that is unacceptable to her parents, Karen Herzog, 42, and Richard Sachs, 49, who are Ashkenazi Jews -- a population affected by the disease.
In 20 years, Lucile Packard Children's Hospital at Stanford had not seen a single case. The nation's top center for what are called lysosomal storage diseases, the Mount Sinai School of Medicine, has seen only 40 cases in 20 years.
None of the children lived.
``It's awful,'' said Dr. Greg Enns, director of the Stanford genetics program and co-director of the University of California-San Francisco Lysosomal Disease Center, who spoke of telling the parents the shocking diagnosis. ``As a pediatrician and as a parent, it is very difficult to see a family go through getting news like that.''
Not acceptable, the parents said again, and began their mission to seek life for their daughter.
Niemann-Pick is an inherited metabolic disorder in which harmful quantities of a fatty substance accumulate in the spleen, liver, lungs, bone marrow and -- in some patients, like Sophia -- the brain.
Referred to as a lysosomal storage disorder, it is named for physicians Albert Niemann and Ludwick Pick, who in the 1920s identified two forms of the disease.
Sophia's condition is so rare that only one in 30,000 Ashkenazi Jews have it, said Enns, who has treated other similar lysosomal disorders.
In the close-knit south Palo Alto community of Greenmeadow, Penny and Richard Ellson rushed across the street to Herzog and Sachs when they learned about Sophia. Herzog mentioned an organic garden to ease Sophia's digestive problems.
Ellson got on the phone, and on June 8 about a dozen people -- neighbors and strangers -- showed up in Herzog and Sachs' back yard, including master gardener Marcia Fein of the Foundation for a Global Community.
Following Fein's organic design, they dug flower beds and planted neat rows of organic vegetables and herbs. It is called Sophia's Garden.
``It has been very touching,'' Sachs said.
But the garden is just a part of the action to help Sophia.
``This is all a part of this larger picture to keep Sophia healthy and alive,'' said Sachs, president and creative director of Valley Design in Menlo Park.
Sophia cannot crawl, but she babbles and has the look of a very curious little girl.
``We feel her great energy and her wanting to be here,'' her mother says.
In Sophia's room, where a long row of stuffed animals perch on top of a sofa, a tiny ``altar'' is filled with symbols of the diverse things that place the wind beneath people's wings.
There are healing stones, a green Tibetan tara, tiny seeds from the Dalai Lama and a Buddha. On her crib are a Roman Catholic Mother Miraculous medal and an American Indian prayer wheel.
The family has met with a rabbi, Chinese herbalists, shamans and a 94-year-old Chumash Indian healer.
Last week, Sachs flew home from Paris, where he attended the third Scientific Lysosomal Storage Disorders Conference. He hopes Sophia can be included in a scientific trial.
``We hit the ground rolling,'' Herzog said. ``We have a window here to try to keep her well. They are gone by age 3.''
The plan to help Sophia is broad and ``integrative,'' Herzog explained, pulling out a black and red chart that has ``Sophia's care'' written in a center circle.
Inside about 30 surrounding connected circles are words such as: pediatric neurology, traditional Chinese medicine, homeopathy, Tibetan medicine, Feldenkrais, physical and occupational therapy, chiropractic, feng shui, ayurvedic, rabbi, Jewish Center, Western and Eastern herbs and so on.
Enns, who had never seen a Niemann-Pick Type A child until he met Sophia, said, ``I applaud Sophia's family for being so persistent in their striving for the best care possible. They have her best interest in mind in trying to coordinate a complex team of physicians from all sides of the globe.
``I have a relatively open mind to other forms of therapy. Just because we don't understand how something works, doesn't mean that something can't work."
But he also said he has ``Western medicine-trained skepticism'' and urges caution in ensuring that alternative treatments don't cause harm.
Sophia's parents hope to establish a fund in her honor to encourage research and share information.
Meanwhile, there is a daily whirlwind of e-mailing, organizing, documenting their own research and contacting research scientists from the home office that they call jokingly Sophia Central.
It helps them not be simply terrified parents, they said, and most important, they think of Sophia not as dying, but healing.
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