Genetic diseases are generally not simply a genetic problem and they are not hopeless cases as doctors generally see them. Generally, genetic deficiencies set up problems, and the simplest and most workable solutions are often metabolic – taking advantage of metabolism’s flexibility and re-programability.
Take sickle cell anemia for example. The genetic lesions are not the problem and changing the genes or the genes that are expressed in the adult may be the best solution now, but there were much easier ways of improving the health of sufferers that were rarely even looked at.
The current favorite approach is to express fetal hemoglobin genes. Probably will be a good solution, but there were workable metabolic solutions all along that were never even looked at because everyone assumed the situation was hopeless because the problem is faulty genetics.
A single genetic lesion in each of the two genes sets up a problem. The problem occurs when globin protein aggregates form. What causes this? Nothing – there are no causes. What increases the probability of this aggregation? A lot of things – for example, vasoconstriction (why isn’t a proper dose of slow release nicotinic acid a mainstay?), low oxygen tension in the breathable air, too low an oxygen tension in the red blood cell (particularly acute when the red blood cells pass through regions of the body with very low oxygen tension), too little body hydration, too viscous a blood plasma, and an improper body temperature (too cold/too hot). Are these not all modifiable? Sure they are. We can appropriately thin the blood with lots of non-drugs, including antioxidants and fish oil. We can increase the oxygen tension throughout the body by any number of ways (oxygen therapy). A high essential fat diet helps pull oxygen into tissues (oxygen therapy will probably be needed during the initial high dosing with essential fats). We can increase the oxygen tension in red cells even while fulfilling the requirements of delivering oxygen to tissues. We can increase hydration in the body and we can better control body temperature.
On the hydration front, the consumption of substances that hold water with the water consumed helps. Drinking 8 glasses of pure water – as doctors recommend – is of little help in hydrating the body properly. Sipping 4 glasses of water during the day would probably do just as well in hydrating the body. Drinking 8 glasses of water mostly quickly flushes waste through the kidneys and 8 glasses a day is clearly excessive for this purpose. Think of fibrous foods – the water is held tightly by the fiber throughout the digestive tract. In the terminal tract, if water is needed by the body, it is reabsorbed and a harder stool is formed. If water is not, it is passed as looser stool. If this system is working properly, the output is a measure of proper hydration. This is a large, expandable, fiber-rich reservoir of water available to the body, and few exploit its power, including most sickle cell anemia sufferers. Why? Because doctors tell them to drink more water if they tell them anything at all to help their hopeless condition – hopeless because the condition is genetic. Rubbish. Genetics merely sets up the problem.
Needs research: What could taking trehelose do for overall proper hydration? What about substances that could specifically and safely increase the hydration and oxygen tension of red cells themselves?