Stop This Corroded World — I Want To Get Off!
Most of the time I love the world and appreciate its beauties. I honor the Creator, and appreciate all the blessings He showers upon me daily, but there are times, like today, when learning of some of the things that happen to people are just too much to bear!
Even Babies Can Die of Hemochromatosis?
How often I have declared that I was “letting go” of Hemochromatosis, only to be forced to discover that it will not let go of me, and here I go again! For many years, ever since my husband died a cruel death as a result of the destruction caused in his body by an overload of iron, I have agonized about how ‘iron hides it’s evils behind a grinning mask of virtue,’ and I can never be grateful enough to Prof. Thomas Bothwell for his dedicated research which finally led to a diagnosis at the Johannesburg General Hospital, after he, my husband had been ill for eight years! It is comforting to know that since that time much has been said and written about this inherited disorder and its involvements; neverthless, although I am able to accept the fact that there are indeed those who need to take iron supplements and eat iron-enriched food, the very thought of it makes me cringe.
Of course, this is due to the fact that the greater part of my own life has been devoted to agonizing, writing, and talking about HH, and yet many doctors still remain ignorant and it infuriates me that many of those who have heard of it do not readily believe that it is anything but rare, which it is not! In Canada, for instance, it is estimated that one in every 300 people will die of hemochromatosis—although the solution is available—and, if patients are caught in time, and stick to the prescribed regime, there is no reason why they should not live to a ripe old age. However, after having also been equally voluble about chrondrocalcinosis, by which I, for instance, as a ‘heterozygote’ (meaning a carrier of one gene only for hemochromatosis) have been crippled, I must acknowledge that their existence will not necessarily be pain-free.
A New Horror! Even Babies Can Die of Hemochromatosis!
I found this hard to believe until Professor Patrick MacPhail, a former colleague of Professor Bothwell, confirmed it. “Most definitely true!” says the professor. “As we learn more about the very complex way that the body manages iron, more opportunities for things to go wrong are discovered. We used to think of hemochromatosis as a single disease, but it is not. When it presents and how bad it is depends on which gene/protein combination has gone wrong. We now know that many of the severe cases, presenting very young, are due to mutations in novel genes that have worse effects than the ‘common’ form. To my knowledge, the cause of neonatal haemochromatosis (not to be confused with ‘Juvenile Hemochromatosis’) is not yet known. It is very rare and usually fatal within the first few months of life.”
Neonatal haemochromatosis Should Not to Be Confused With ‘Juvenile Hemochromatosis’
What confuses many people is that the naming of the various types becomes matter of age. Type 1 Hemochromatosis — the most common form of the disorder — is classified by type, depending on the age of onset and other factors such as genetic cause and mode of inheritance, and is what we usually think of when we hear the word ‘hemochromatosis’. — It is caused by inheriting two genes, one from each parent, and such a person is known as a “homozygote” for HH.(‘Heterozygote’ describes someone with only one) Types 1 and 4 are adult-onset disorders, and men with type 1 or type 4 hemochromatosis typically develop symptoms between the ages of 40 and 60, whereas women usually develop symptoms after menopause, but I personally know of a young woman who was diagnosed at age 32!
Types 2 and 3 Hemochromatosis, Are ‘Juvenile-Onset’ Disorders. Type 3 (Somewhere Between 1 and 2.)
In the case of both these maladies, iron accumulation begins early in life. Symptoms may begin to appear in childhood and, by age 20, decreased or absent secretion of sex hormones is evident. Females usually begin menstruation in a normal manner, but menses stops after a few years. Males, on the other hand may experience delayed puberty or sex hormone deficiency symptoms like impotence. If the disorder is untreated, symptoms of heart disease become noticeable by age 30. Occurring between two extremes, symptoms of type 3 hemochromatosis mostly begin to manifest before age 30.
Babies With Hemochromatosis
In rare cases, iron overload begins before birth. These cases are what is referred to as Neonatal Hemochromatosis. This type progresses rapidly and is characterized by liver damage which is apparent at birth or in the first day of life. Leaning of this is what has precipitated this article!
I once heard Professor Bothwell give an absorbing speech entitled “Iron in My Soul,” in which he painted a word picture of his enduring passion from the early days of his research. I thank God for him and others like him, and I just have to take it when I am accused of suffering from “Iron on the brain!”