For some reason, I shadowed the work of genetic counseling in one of the best world class hospitals. It was a wonderful and amazing experience.
The first case we had was a teenager patient suffering from malignant hyperthermia, an autosomal dominant genetic disorder. The young patient is very athletic. But every time after his football training, he suffers from severe cramp in his calf, sometimes even biceps and fingers. His mother described that his fingers were like those who have arthritis, bend and stiff. The boy told us he could even see the muscles on his thigh rippling and twisting. They have seen many doctors including sports doctor, neurologist and pediatricians. The doctors suspected the boy having malignant hyperthermia according to blood test for creatinine kinase (CK). However, no family history of this disease has been reported. Today, they talked to genetic counselors and were recommended to run a genetic test in order to confirm the disorder. While talking, genetic counselors figured out that the father had a back surgery in 1988 and was difficult to wake up after the surgery, which is the sign of malignant hyperthermia. And the father did run genetic test several years later for other reasons. Interestingly, the test didn’t show any of the discovered 11 mutation responsible to this disorder on the father’s chromosome. So the boy might have a new mutation. Therefore, the doctor ordered genetic test of the whole chromosome 19q for the boy. They will get his chromosome sequenced and find out whether new mutation has been generated. His siblings are recommended to have the genetic test too, because share 50% of the genetic makeup with each other and the mother did bring up that their 9-year old daughter felt muscular weakness after exercise.
This family is well educated. The mother works in an accounting company and the father works in an insurance company. The family has done a lot of research about this genetic disorder and kept their records organized. This made the counseling part more effective and efficient. But not every family has prepared themselves so well. The following is an example happening in the afternoon.
This family is composed of a 38-year old father, a 34-year old mother and 7 kids. The fourth kid, a daughter, is suffering from mental retardation. The family thinks the girl has CHARGE syndrome, a genetic disorder generated by the mutation of CHD gene on chromosome 8, according to the doctors they saw before. However, the genetic counselors suspected this diagnosis based on her physical features and lack of genetic testing analysis. As a matter of fact, the counselors have tried to talk to the family over phone for many times before they decided to show up in person, but they seemed not been cooperative. The father told us the girl was born at 34 weeks of pregnancy and found to be deaf 4 days later. Although the pediatricians told the family the girl’s weight and height have been normal, the family found her mentally retarded lately, as they told us. The girl is 6 years old now and is unable to feed herself, or speak, or point at anything. The family claimed that the girl barely has common diseases including heart diseases, kidney diseases or lung diseases. So the father insisted that the girl’s brain was bad and the hospital should have solutions to fix it by either surgery or pills. Unfortunately, the majority of genetic disorders are incurable, which is sad. The father obviously held high expectation on this world famous hospital and felt frustrated after being told so. He refused to run any genetic test to find out the real problems. What was frustrating to me is the family knows little about medicine and they lives in a rural area of MI, they had no awareness of the importance of training their daughter at very early stage. So currently, the best solution is to offer the girl special therapies, such as speech therapy, physical therapy, etc, rather than home schooling her. If the parents strongly desire to give her a better life, they have to seriously try pretty hard. In this case, the mother is a house wife and the father is a truck driver. They simply think the hospital can cure their daughter by taking out or putting in something in her brain, which will substitute special therapies. We sincerely feel sorry for them. But it is what it is. That is why gene therapy and stem cell research should be supported.
The last case we had today was an 8 month old girl who suffered hydrocephalus and spin bifida at birth. After surgery, the girl has been doing well. The counselors were not quite sure the reason her doctor ordered her the counseling, it could be due to her facial and physical features such as short limb, which is still in normal range. Actually her lab showed every metabolic parameter is normal though I could still see the scar on her head, and her head is not in good shape yet. So in this case, the defects have been found earlier and treated earlier. I think the girl will have a normal life as everyone does.
