Starting a family is an important milestone in a couple’s life. For soon-to-be parents, envisioning their child’s future often dominates both conversation and thought. Many parents dream of raising a president, some a professional sports star, others a doctor; however, few parents anticipate watching their child die before them. For Augusto and Michaela Odone, this nightmare was their reality. In 1984, the Odone’s presumably healthy son, Lorenzo, began to experience drastic behavioral changes and temporary blackouts. The Odone’s were baffled by these episodes. Following extensive medical consultation, Lorenzo was diagnosed with adrenoleuko-dystrophy (ALD), an often-terminal condition. The Odones were left with many questions including, “how could this happen.”1 The answer to that question came in the form of genetic counseling. During genetic counseling, prospective parents have the opportunity to undergo DNA analysis by a genetics specialist. Geneticists are able to dissect each parent’s DNA and locate mutant genes that could potentially cause health problems for future children. Genetic counselors put together a chart documenting the potential diseases their future children could inherit. The goal of genetic counselors is to allow the parents to make an informed decision regarding children given the specific biological risks. Based on this risk assessment, parents are able to make an informed choice to proceed with having natural children or seek outside help via adoption or donor parents.2
In many aspects this ability could be highly beneficial; however, there are also potential ramifications associated with genetic counseling. An example of these ramifications relates to the timing of said genetic counseling. If both parents are determined to be carriers of a disease prior to conception, they can opt out of having children altogether and prevent an innocent child from living through the misery the disease could bring while saving their own emotions from watching their baby deteriorate. Financially, choosing not to have natural children with a disease could also prevent the family from going into financial hardship as many insurance companies refuse to insure children with preexisting conditions.3 While there are several positives associated with genetic counseling, it is important to address potential consequences. If parents choose to go through genetic counseling after becoming pregnant they could choose to abort their child upon learning it is a carrier to one of the mutant genes. One of the major shortcomings of this type of screening is that prenatal tests only recognize an indicator of a genetic disease. These markers do not always result in disease development and often only produce future genetic carriers. Therefore, parents who choose to abort are often left to question their choice and mourn the loss of their child. It is not uncommon for this grieving process to last their entire lives.3
Ultimately, genetic counseling may have helped the Odones. It is important to note that Adrenoleukodystrophy is a complex mutation. The mutation is found on one of the X-chromosomes of the child. Genetic counselors have determined that there is fifty-percent chance children who have a mother with the ALD gene will inherit the disease. As this is an X-linked condition, fathers who have
attention deficit disorder, short and long-term memory loss, and loss of coordination or gait. There is not a cure for ALD but there is a medicine that can slow down the process. The most famous cure is called Lorenzo oil this oil was developed by Augusto and michaela Odone, Lorenzo’s parents. When Lorenzo was first diagnosed with ALD they were told there was not a whole lot that could be done…
Adrenoleukodystrophy and its effects Adrenoleukodystrophy (ALD) is a rare X-linked disease that attacks the central nervous system and breaks down the coating of nerve cells in the brain, called the myelin sheath. It has been discovered that mutations in the ABCD1 gene are linked to cause ALD. Patients who have ALD have very long chains of saturated fatty acids (VLCFA) that accumulate in the brain and in the adrenal cortex. ALD generally affects about 1 in every 100…
Honors Integrated Science 2 Review Genetics Mrs. Olivares Genetics- the Science of Heredity and how traits are inherited Heredity- The passing of traits from parents to offspring Dominant- When one trait overpowers or hides the other trait. Recessive- The trait that is hidden or masked Genes- Specific traits are carried as genes on chromosomes. Genes are segments of DNA. Alleles- The alternate forms of a gene. You receive one allele from each parent and have 2 alleles to describe a trait…