Elixir of Hope?

After the shock of giving birth to a baby with Down syndrome, parents are usually advised to begin therapy that can help their child develop basic skills--and to accept the limitations that mental retardation imposes.

In the past year, however, a different message has rattled the nationwide community of Down syndrome parents, advocates and health professionals.

Spearheaded by a Louisiana mother, a small group of parents and health professionals say that a nutritional formula combined with an illegal drug can precipitate dramatic improvements in the health and abilities of children with Down syndrome.

The therapy has not been scientifically proven to be effective, however. And leaders of several of the major Down syndrome organizations are adamantly opposed to its growing popularity.

Some doctors and researchers, however, are intrigued enough with the theoretical underpinnings of the therapy that they are advocating more research. But most are stopping short of endorsing it.

Called “targeted nutritional therapy,” the formula is now in use by an estimated 5,000 to 10,000 Down syndrome children nationwide, according to the informal calculations of observers.

It’s not known how many parents are also using the drug Piracetam--which is illegal in the United States--in conjunction with the formula.

Nutritional therapy became popular about a year ago after the ABC-TV news show “Day One” aired a segment on the therapy and its founder, Dixie Tafoya.

The segment triggered a flood of calls, including one from Julee Bramson, the mother of a son, age 2, with Down syndrome. She was typical of the parents who responded by immediately ordering the formula as well as the Piracetam, which can be mixed with baby formula or food.

“For me the issue is doing whatever I can for the health of my child,” said the Bel-Air woman, who sponsored a recent symposium on targeted nutritional therapy in Los Angeles. “I believe this is a first step.”

Bramson is intrigued by a pivotal question raised by Tafoya and her supporters: Are the mental retardation and physical deficits associated with Down syndrome established at birth--the traditional view--or can some of the damage be mitigated by medications and nutrition?

“I think the professional view of Down syndrome is incorrect,” Bramson said. “We need to reopen the doors of research on Down syndrome. We need to learn what makes these kids tick.”

Nutritional therapies for children with Down syndrome have cycled in and out of favor for about three decades. And studies performed on children receiving large doses of vitamins in the late ‘70s and early ‘80s showed no benefits, according to most interpretations.

“All of the studies proved that it didn’t make any difference being on the nutrition,” said Sheila Hebein, executive director of the National Assn. for Down Syndrome and the mother of a 23-year-old son who participated in one study. “Having had that experience, I am very cautious about this. I tell our parents, ‘Don’t you think if we thought there was something more we could do, we’d do it?’ ”

In the past 20 years, however, science has made significant advances in understanding the complex workings of cells and the role of various vitamins, minerals, amino acids and enzymes involved in their functioning.

Out of this knowledge boom arose Dixie Tafoya from Gonzales, La.

Tafoya, who will only say that she is in her late 30s, was running an adoption agency that specialized in placing Down syndrome children when she adopted a baby girl with Down in 1990. One day when Madison was about 8 months old, Tafoya noticed that the baby was responding to simple verbal commands, such as “rub your tummy.”

“An 8-month-old Down syndrome baby is not supposed to understand that,” said Tafoya during a recent stop in Los Angeles. “It dawned on me that perhaps these children aren’t brain damaged at birth; that the damage progresses over time.”

Tafoya has no formal training in science but took some biochemistry courses in college. And, after months in the library, she began to accumulate dozens of small, obscure studies that showed what she calls “manageable” differences in the way Down syndrome children metabolize nutrients.

“I was stunned that so much information had been published on Down syndrome that was not being utilized in the everyday care of these children. I was angry--mad enough to give me the push I needed to do something,” said Tafoya, who has established a nonprofit organization called Trisomy 21 Research Inc.

Down syndrome is usually caused by Trisomy 21, a genetic aberration in which there are three copies of chromosome 21 instead of the normal two. This extra chromosome and its store of genes trigger many of the metabolic changes and nutrient imbalances observed in Down syndrome kids, claims Tafoya, who refers to the nutritional therapy as “manipulation of gene over-expression.”

For example, studies show that a gene for the enzyme superoxide dismutase is located on chromosome 21. The excess of superoxide dismutase is thought to cause low levels of antioxidants (such as vitamins A, E and C), which prevent cell damage, and lead to the immunological problems and degenerative features of Down syndrome. Down syndrome children often have weak immune systems, poor muscle tone and a high risk of developing Alzheimer’s disease later in life.

“When you have too many enzymes they sometimes do too much work and cause this balance shift,” said Steve Fowkes, one of Tafoya’s early supporters and director of the Cognitive Enhancement Research Institute in Menlo Park, which publishes information on cognitive research. “The imbalance in these kids is causing antioxidants to be consumed at an accelerated rate. We can compensate by increasing dietary antioxidants.”

But others aren’t buying it, maintaining that the benefit of nutrient supplements is unclear or insignificant.

According to Dr. Allen Crocker, a Harvard University pediatrician who specializes in patients with Down syndrome, there is no evidence that the nutritional makeup of people with Down syndrome differs markedly from other people.

“The [genetic] aberration doesn’t set a person up for difficulty in processing and maintaining nutrients,” said Crocker, who is co-chair of the professional advisory board for the National Down Syndrome Congress. “There is no deficiency of anything--trace metals, major protein complexes or amino acids--that could lead one to say, ‘Oh, heavens, this child is short of this or that.’ It’s just not a good hypothesis.”

Tafoya promotes analyzing a child’s blood for evidence of vitamin, mineral and amino acid deficiencies. The blood tests, which are performed by only a few labs, including Pantox Laboratories in San Diego, cost about $450 and may not be covered by insurance.

But Crocker said this kind of analysis is highly subjective.

“If you take any human you will find big variations. You have to put some judgment or context to it,” he said.

The formula, compounded to address a particular child’s deficiencies, must be ordered with a prescription from Nutri-Chem Labs in Canada, the sole manufacturer. It costs about $210 for a two-month supply and is not covered by insurance because it originates from a foreign country.

Tafoya is convinced she is on the right track. With a no-nonsense attitude, she doesn’t suffer fools gladly and can barely contain her impatience at having to defend the scientific questions directed at her.

To her, the therapy works; you can tell by looking at her child and the many others on the formula.

“For a physician to tell parents that vitamins don’t do anything is ludicrous,” said Tafoya, a slender woman who favors a wardrobe of blue jeans. “It would be malpractice if you didn’t correct this [nutrient deficiency] in a normal child. But there is a misconception that our children are different to the degree that they can’t be helped.”

With this untested theory, however, come big claims.

Tafoya and other parents say that the therapy leads to a softening of the pronounced facial features of children with Down syndrome. They say that their children are better able to fight off colds and viruses, that their physical strength improves and that they appear more alert and mentally facile.

“This is not a cure. It can help a great deal though,” said Tafoya, who encourages parents to pursue the therapy only if their child’s doctor agrees.

“Jesse’s health has improved overwhelmingly,” said Bramson, whose son has been on the therapy for about a year. “The first year was so hard. He was always sick. He was on antibiotics every other week. But that has been cut by about 75% Now he’s got some immunity. He’s also curious. He’s got a better attention span.”

*

While the anecdotal evidence means little to scientists, some doctors say Tafoya has uncovered nuggets of evidence that should be explored further.

Bramson’s son’s pediatrician is among the many who support a family’s desire to try the formula.

“You’ve got to try new things,” said Dr. Peter S. Waldstein, a Beverly Hills pediatrician.

He sympathizes with parents who don’t want to wait for studies to be carried out when there are strong anecdotal claims that something works.

“In the United States, if you wait for [double-blind studies] these kids will be 24 years old. To me, there was no negative to this. It’s safe.”

He agrees with the Bramsons that their son began to improve, and even look different, after starting the therapy. But Waldstein acknowledges that it’s impossible to say how the child would have fared without it.

“A lot of it depends on the environment,” he said. “If you get parents like the Bramsons who are nurturing and loving and caring, then you are going to see results.”

Other doctors say they would give parents the prescription required to order the formula but won’t believe in it until the appropriate studies are done.

“I think there is value in studying it,” said Dr. Brian Chicoine, medical director of the Lutheran General Adult Down Syndrome Center in Park Ridge, Ill. “It’s known that there are lower levels of certain amino acids in persons with Down syndrome, for example. But the thing I’m not seeing is that amino acids are given to people and their [blood level] numbers improve. And the other question is: What is the significance of these deficiencies? That has not been studied.”

Crocker, the Harvard pediatrician, also agrees that studies are needed and understands that parents are confused by the controversy.

“The public has every right to be pissed off at people like me,” he said. “We’ve been aware of the excitement around this, but we’ve let it sit and sneered at it.”

While no one has plans to undertake a comprehensive study of targeted nutritional therapy as yet, a Baltimore researcher will begin a study later this year on the other component of the controversial therapy, the drug Piracetam.

A so-called smart drug that is thought to affect cognition, Piracetam has been examined at various times for dementia, head injury and dyslexia. It is considered of no value for any of those disorders, Crocker said. The drug, which has no known side effects that can be toxic in too high doses, is not approved in the United States, and foreign orders are subject to seizure.

But a small study of Down syndrome children in Barcelona, Spain, showed that the drug had some beneficial effects in promoting learning and memory retention, Tafoya said.

“Somebody should have paid attention to this, but they didn’t,” she complained.

*

Until large, comprehensive studies are done, however, parents might be misled, say leaders of several Down syndrome organizations.

“Dixie sees her daughter as doing very well. I don’t know that she is doing any better than any other children,” Hebein said. “The problem is that after someone starts their child on something like this, they don’t have anything to gauge their progress by.”

The wide range of abilities in people with Down syndrome further complicates the picture, she said.

“Bring me a child doing great and I’ll find you one who is doing just as great who is not on a vitamin therapy,” Hebein said.

While the National Down Syndrome Congress and the National Down Syndrome Society discourage its use, Hebein said her group has not taken a position on the nutrition supplement or Piracetam.

“We feel that it’s a medical decision,” she said.

Tafoya said she understands that some parents may set their sights too high.

“I think [they] have expectations that exceed what you actually see. But I haven’t talked to a physician yet who hasn’t seen really good progress.”

And, she said, expecting too little from a Down syndrome child is the biggest error of all:

“The major support groups have set parents in the mode of acceptance to the point where they are complacent. They do not question that there may be something else they can do for their children.”