Friday, June 28, 2019

Beware. Be Aware.

   Just because this is where you read it doesn't mean it isn't real.  There are genetic factors which may, or may not, impact your health in the future. I don't make stuff up.
 (1)   On the paternal side, Hereditary Hemochromatosis:
The patient tested, DTS Sr., by SmithKline Beecham Chemical Laboratories in 1998, was found to be homozygous for the HFE Mutation, C282Y. Though some of these individuals may remain asymptomatic,  the recommendation is that serum iron and ferritin levels be monitored, and if clinically indicated, that a therapeutic phlebotomy program be instituted.The testing so indicated and the phlebotomy program was adhered to for almost 20 years.
     Early diagnosis is essential to avoid organ damage and to provide a normal life expectancy in affected individuals. This diagnosis is present in at least 1 of the patient's 2 brothers. Their father died fairly young, at age 69, from heart attack.
    At-risk family members should benefit from HFE Mutation analysis.
This disease is an autosomal recessive disorder of iron metabolism characterized by abnormal iron absorption and progressive increase of Total Body Iron.  The iron accumulates and at mid-life can cause cirrhosis, heart disease, diabetes, and liver cancer, as well as other conditions.
 (2) Maternal side, Fuchs' Corneal Dystrophy
      Let me add that just because your friendly ophthalmology practice does not emphasize the condition doesn't mean it isn't important. It means that the practice does not treat the condition. Many optometrists and opticians are unable to diagnose Fuchs' as they lack the equipment or training or both.
    Fuchs' Dystrophy used to be the leading cause of blindness in this country. Diagnoses were difficult, and the treatment formerly was painful and painstaking with a long and rigorous recovery period, if it ever came to that.
  Fuchs' is known as Fickle Fuchs' because  the course it can take varies widely, from mild to near or total blindness.The treatment now is near miraculous in its sight-saving abilities.
  I personally learned of my diagnosis by chance. The condition had been diagnosed by my ophthalmology practice years before, but Big Brother doctors can tend to withhold information which does not enhance their profit status. However, when the doctor I had been seeing referred me to another doctor for a totally different condition, she, reading my chart, remarked that of course I  knew that I had a diagnosis of Fuchs' Dystrophy. No, I didn't. I'd never even heard of the term before. So I looked stuff up and found information. I learned that one of the dangers of the condition is that any procedure on the eyes can have devastating consequences. Lasik surgery  should be avoided, and other procedures, such as cataract surgery, should have special precautions taken during the actual surgery or else the condition can be worsened. Knowing this, on the day(s) of my cataract surgeries, I asked Dr. Z. if he was going to use the gel during the surgery. I remember he seemed slightly surprised by the question, the word "gel" probably, but he said, "That's why I'm here." The surgeries were very successful, so he must have used all his expertise, and fortunately my Fuchs' has remained mild, to date.
   You are born with the condition, so it affects both eyes, though one may be worse than the other. Each child of a person with Fuchs' has a 50% chance of having the disease, though symptoms typically don't appear until mid-life or later. The caution is that the children  should know, before the need for any ocular surgeries, because of the risk of surgery if precautions are not taken. The Fuch's Corneal Dystrophy Site has numerous accounts of members undergoing what they expected to be helpful Lasik procedures, but which resulted in worsened eyesight.
     I suppose we'll never know from whom we inherited the gene for corneal dystrophy, but I suspect it was on our mother's side. Many family members died young back then, before the disease presented itself. When my mother's eyesight began to fail, I brought her for cataract surgery, a somewhat barbaric procedure even in the late 1970's and her results were less than optimal. A few years later, I brought Helen for what was to be cataract surgery, but the doctor refrained, saying it would not help her.  By the time of her death, she had been declared legally blind.

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