To Your Health

How to best treat a child with Noonan's Syndrome

Q. I just got the news that my newborn nephew has something called Noonan Syndrome. How will this affect the child, and is there anything that can be done nutritionally to help?

A. Noonan Syndrome is a genetic disease, involving a mutation that affects the way in which body cells communicate with one another. Unlike most mutations, which result in a reduction or loss of some cell function, this mutation actually increases the signals for cell growth. As a result, many children with Noonan Syndrome have a thickened heart muscle or other heart problems of various sorts, and for their entire lives need to be closely monitored by a cardiologist. A common and more noticeable problem is a skeletal defect of the chest called "pectus excavatum," or a sunken chest. Noonan Syndrome is associated with quite a lot of developmental problems, some of them likely to affect IQ and performance, but in spite of these difficulties a majority of children with Noonan Syndrome grow up to lead relatively normal adult lives.

Most of the challenges faced by children with Noonan Syndrome are not connected to nutrition, but one problem is, with the fancy name of "protein-losing enteropathy." Ordinarily the intestinal tract is in the business of absorbing nutrients. With protein-losing enteropathy these children lose vital body fluids containing protein and other nutrients because too much lymph drains into the intestinal tract. Although the intestinal tract is able to reabsorb some of these valuable proteins, the body is forced to take protein from other parts of the body, like muscle, to replace what is lost. The loss of protein and other nutrients is very detrimental to a growing child, but less so as the child grows past adolescence and nutrient requirements diminish.

Although there is no research to support it, the use of food supplements that aid in absorption of nutrients, such as folic acid, makes sense in this situation. Folic acid supplements increase the surface area of the gut and thereby its ability to take up nutrients. A pancreatin supplement, which might aid in the breakdown of protein to prepare it for easier absorption, is also worth a try when the child becomes old enough to easily swallow pills.

An unusual oil known as MCT (medium chain triglycerides) has been used in Noonan Syndrome, along with an otherwise low-fat diet. Although it does not correct the underlying defect, MCT oil does not require digestion and is easier to absorb than the other forms of fat in the diet, and so it appears to assist growth.

A ray of hope for those who suffer with Noonan Syndrome can be found in the writings of Roger J. Williams, who proposed many years ago that just because a mutation exists in a particular individual, this does not necessarily mean that it is expressed. A number of environmental factors, including extra amounts of certain nutrients, may work together to allow normal functioning in spite of the mutation. The nutrients needed would likely be different for each individual child, and a certified clinical nutritionist could help to identify those that are potentially beneficial with the sophisticated testing now available.

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