A Meaningful Day (2)

A meaningful Day (2)

Backing from the clinic, I feel exhausted. I experienced 4 cases today and I will record 3 of them here.

The first case I experienced was a middle aged female suffering arrhythmogenic right ventricular dysplasia (ARVD). She had two sisters. One died from sudden death. Autopsy demonstrated she had ARVD too. Another sister has caridomyopathy at right ventricle. Their father had a heart transplant back in 80s and died from lung diseases. ARVD is an autosomal dominant polygenetic disorder with reduced penetrance. Genetic testing revealed that she has a different mutation from what her dead sister had, which made things complicated. Before the new variation can be further confirmed, her kids would not be tested genetically. However, her kids have been highly recommended to have EKG and echo tests in order to enhance their awareness of this disease. She is very cooperative and yet her cardiologist seems not agree that her kids should be checked as soon as possible. It implied that many doctors, if not all, are lack of the knowledge of genetics.

The following two cases were quite emotional. I insisted on observing the girl with Tetralogy of Fallot who was adopted from China. She was abandoned when she was 6 months old and adopted at 14 months old. Now she is 18 months old. Obviously, she has delayed developmentally. She is not able to walk or speak, though she gets started to babbling. She will have a surgery next week to correct her little heart. The reason she was referred was her doctor suspected that she has DiGeorge Syndrome, which Tetralogy of Fallot is one of the features. Genetic testing didn’t show any deletion of corresponding genes and yet could not exclude the possibility of single point mutation. However, due to her Asian characteristics and lack of documentations of birth and family history, it is very difficult to diagnose her as DiGeorge. Her mental development seems fine but motor development is delayed. The parents did some research on DiGeorge and ruled out the possibility before doctor brought it up again. New research has shown that TBX1 gene is related to DiGeorge and heart defects. The doctor recommended her to have this gene tested after the surgery. Since no genetic mutation has been found on her, I tend to believe her heart disease might be a result of environmental intervention, such as pollution, inappropriate medication during pregnancy, etc.

I had a complex feeling while I was with them. The parents are ordinary Americans who already have 3 sons. And they adopted a sick girl from the other side of the earth as their daughter.  However, the biological parents of the girl abandoned her when she was just 6 months old, maybe because of her illness. She has been poorly cared and really in poor nutrition, which is one of the reasons to lead to developmental delay. I felt happy for the girl. She is lucky to be adopted and cured in the best heart hospital in the world. I am sure she will have a better life with healthy body and mind.

The last case was a difficult one. The patient was a 32-year old young man who has been deaf since birth. Lately he has been found to have a 5.7 cm aneurysm on his descending aorta and he is also suffering from aortic bicuspid. He could not speak clearly due to his deafness. The parents have done their best to send him to special schools and he is now having a full time job. He has one sister and one brother. The young man has a family history of heart problems. His father, who is with him during the counseling, actually has aortic aneurysm (about 4.7 cm) found last year. His grandfather died from heart attack and his grandmother had an open chest surgery for coronary artery disease. All his uncles and aunts had different types of heart diseases. The young man has been scheduled a surgery next week and we highly recommended both him and his father to run genetic tests while he is inpatient. If the test results are positive, his siblings should be tested too. They were overwhelmed by all these information, especially the doctor told the family the young man could have XX syndrome (sorry, forget the name), the whole family burst into tears. To medical professionals, a surgery means new hope and new life. To ordinary people, it could mean danger and even death. The bright side is they don’t have to decide immediately. They need and should take some time to process all the information, to weigh the pros and cons. But they should be aware the potential danger after we brought up their family history.

Facing a health problem is difficult, not to mention it happens in a family base. But this is life. We all wish it were a joke; but unfortunately, sometimes it is the cold fact, which we have to work harder to find a solution.