Lorenzo’s Oil
We watched the movie “Lorenzo’s Oil” in today’s counseling class. The movie depicted the life of Odone’s family with their sick son who suffered adrenoleukodystrophy (ALD), a fatal genetic disorder. It’s a horrible disease. I’ve read books about Pompe disease, DMD, Down syndrome. However, when I watched this movie and saw how much the boy and his parents suffered, I feel so sorry for them. A metabolic disorder could torture a patient and made him living like the dead. Surviving each day is such a difficult thing to do.
ALD is an X-linked rare inherited disorder. It usually passes from mother to son. Thus, more males than females would be affected. Female carriers could show mild symptoms if skewed x inactivation occurs. ALD is due to the accumulation of long chain fatty acid in brain, which progressively damages the myelin sheath. Myelin is the out layer of nerve cells, responsible for insulation of nerve pulses. The deterioration of myelin will eventually damage the normal function of the brain and leads to death. The onset of ALD is 4-5 years old. Patients will loss the function of walking, speaking, and eating while the damage of brain progress. Meanwhile, patients will loss vision and hearing, and suffer seizure from time to time.
The current treatment is called Lorenzo oil. The movie described how Lorenzo oil was invented by two laymen, who were the parents of ALD boy Lorenzo. There are several things impressed me.
1. Parents’ response when they were informed their boy had this fatal disease. Shocked, heartbroken, devastated. But they pretended nothing happened when facing the boy. The mother often held the sick boy. In her arms, the boy looked so small and fragile. The parents tragically witnessed the deterioration of the boy’s condition, losing his speaking, walking and eating ability. Therefore, finding a cure or at least something to slow down the progression would be their life time goal.
2. The boy severely collapsed many times and could die at any time. Once when the parents felt no hope, the mom held the boy and said he could go. These are simple words, but it needs courage and strength to speak it out, because they are losing their son forever.
3. I am not blaming the mother who fired nurses one after another. Either she thought the nurse gave her bad advice or the nurse was only care of medical issues rather than taking her son as a human being to meet his other demands. But people are not Gods. Everybody has limitations. Even a genetic counselor can’t do everything like a mother does. They have their life too. It is apparently a very paradoxical issue. Patients and their families should unfortunately balance what they need and what people can really offer.
4. I really hate one scene. A Boston doctor exposed the sick little boy in front of hundreds of medical students and explained the symptoms of the disease in cold medical terminology. Language is a sensitive issue when working with people. Some medical terms, to ordinary people, have negative connotations. Mental retardation, for instance, people would like to hear intelligent slow. Patients and their families have already suffered physical pain. The usage of those cold medical words undoubtedly aggregates their psychological anguish. They won’t ask for sympathy. But caring for their feelings and showing empathy would warm their hearts.
5. I couldn’t stop thinking that why carrier screening could not be done as a routine resulting in much few families to have such inherited fatal disorders. It could be a good idea yet unrealistic unless family history has demonstrated evidence of a disease running in a family. The majority genetic disorders are rare; only a smal group of people was afflicted compared to common diseases. Thus, population wide screen is unrealistic. But for some ethnic groups, for instance, Ashkenazi Jews, genetic screening has dramatically decreased the incidence of certain genetic diseases such as Tay Sachs disease. It is one of the benefits brought by gene testing.
6. Some genetic counseling issues: 1) help doctors to accurately diagnose the disease by providing accurate and updated genetic findings; 2) recommend carrier screening in patient’s family, especially women who want to have their own kids; 3) recommend female carriers to pay attention to their own physical condition, such as walking, speaking etc, in case skewed x inactivation. 4) Introduce patients and their families to support groups; 5) encourage patients and family members to cope and adjust to new situation, but don’t give them false hope; 6) get involved in clinical research. Cure is what patients want most.
