Most of you have heard, read or seen on TV the saga of the little boy Charlie Gard, in England, and his parents fight for his life against all odds. Even the Vatican and the White House offered to help little Charlie, if possible.
Charlie Gard, an 11 months old baby, was born with a very rare genetic disease known as Mitochondrial DNA depletion syndrome (MDS or MDDS). There are several known variants of the disease. The one Charlie had appeared to have been the worse, affecting muscles, brain and a multitude of other organs. This form is fatal in early life or early childhood. After a prolonged battle in English Courts to allow for Charlie to receive experimental treatment in the USA, which was unlikely to help Charlie, the parents agreed to withdraw life support and Charlie died shortly thereafter.
The case of little Charlie Gard, reminded me of how unprepared prospective parents are, should they have to face a genetic disease in their offspring. The term “unprepared” is an understatement. Their mind is blank on the subject.
Historically, genetic abnormalities, in the absence of science, were surrounded by superstitions. Some considered it an act of God’s punishment. Others viewed it as the work of malignant spirits or work of the devil.
Genetic diseases, which as you know are inherited from your parents and involves an error in the normal DNA, are a medical challenge and most are heartbreaking for the family. For the affected individual, assuming he/she survives, the condition, it usually means a life-long fighting or adapting to health handicaps. Medically we have made enormous progress in treating those conditions that are treatable: surgery, reconstructive and plastic surgery, surgery on the baby before birth, medications, physical therapy, psychological support and many other care alternatives.
Today, every pregnant woman is offered prenatal genetic diagnosis, usually at the first prenatal visit. That offer starts a chain reaction involving medical, family, personal, ethical and religious issues, which vary from case to case and for which the future mother and father were not prepared. There are professionals that will guide the couple through the maze of information, details about the technical procedures that may be needed, and psychological support. In some cases, this is not a smooth ride. In other, however, things are quite straight forward and decisions can be arrived at to the satisfaction of everybody concerned. But it takes its toll, even if everything turns out for the best.
The psychological make-up of most prospective parents is such that they “know” that their pregnancy is going to be just fine. For those less lucky, genetic diagnosis can be a turmoil. Denial is not uncommon. Finger pointing is likely to occur: “in my family nobody had ever any problem”, implying that the other parent may be at fault. When time for decisions arrives, the male partner in particular has a tendency to throw it back to the mother: ”do whatever you want to do” a negative and detached attitude, that sometime leads to divorce or separation. Some refuse a psychological help which, one or both parents, consider a stigma. Priests or Pastors may have to be involved in such situations to help the couple understand that no one is at fault.
New prospective parents are prepared for normal pregnancies and healthy babies. Vaguely, they have heard of miscarriages, preterm deliveries, perhaps diabetes and/or high blood pressure in pregnancy. But most pregnancies are normal so such potential problems are in the back of their mind and they do not worry about them. These are complications that happen to other people, not to us. When it comes to genetic diseases, however, most parents don’t have a clue. Hence, if something happens, they are lost, afraid of the unknown, angry and emotionally distraught. They deserve better.
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SILVIO ALADJEM MD, an obstetrician/gynecologist and Maternal Fetal Medicine (high risk obstetrics) specialist, is Professor Emeritus in obstetrics and gynecology at Michigan State University, College of Human Medicine, in Lansing, MI. He is the author of “10,000 babies: my life in the delivery room” now available on Amazon, Barnes and Noble and other book stores. Dr. Aladjem published extensively in Scientific Medical Journals and wrote several textbooks in the specialty. He can be reached at: email@example.com