A genetic disease is defined as being a disease or disorder that was inherited genetically by an offspring from his or her biological parents. These diseases or disorders can vary in effects and consequences towards the human bodies and may also greatly differ from one organism to another, however they can equally have identical results. They tend to affect the genes, chromosomes, cells and a few other parts of the body by altering, deleting, substituting, etc. the components of the previously mentioned areas.
Some of these diseases in Nova Scotia are isolated and known as Usher’s Syndrome, Friedreich’s ataxia, Niemann Pick Disease, Fabry Disease and Charcot-Marie Tooth Disease. Interestingly enough, Niemann Pick Disease involves the metabolism of the human body which in turn, once affected, tends to spread and impact other organs like the liver, spleen, lungs and more. In this report, an explanation of Niemann Pick Disease, as well as the advantages and disadvantages for individuals with this condition knowing its origin and finally the ethical implications regarding the research of this disease will be given.
What is Niemann Pick Disease? Niemann Pick Disease, as mentioned above, is an isolated genetic condition that needs to be inherited. It is also known as an autosomal recessive disease which means the parents are carriers of the affected gene however they will show no signs of symptoms1. This condition affects the lipid metabolism of human beings with this disorder and because of this, large harmful amounts of lipids begin to amass in the spleen, bone marrow, lungs, liver and finally the brain.
In order to fully understand the depth and importance of this, it must be clear that “lipid metabolism” means the breakdown, transport and use of all the body fats and cholesterol2. Depending on the symptoms and causes, the Niemann Pick Disease is divided into four types: Type A- also known as the neurological type of the Disease because it involves the nervous system. The symptoms of this type are identified by an enlargement of the liver and spleen, a progressive deterioration of the nervous system (which is why it is known as the neurological type) and failure to gain weight or grow at the average rate of a healthy organism.
Type A affects infants and small children and those with this type of Niemann Pick Disease typically do not survive past childhood3. Type B- unlike Type A, is known as the non-neurological type because it tends to not affect the nervous system. It does however, share some of the same symptoms as Type A, for instance enlarged liver and spleen and growth retardation, as well as possess its own set of symptoms like, frequent lung infections and elevated levels of cholesterol and lipids in the blood.
People with Type B Niemann Pick Disease tend to survive only up until adulthood4. Type C- subdivided into two types C1 and C2 (sometimes recognized as types C and D) due to different gene mutations, this type possesses a few more symptoms than Type A and B, for example, severe liver diseases, seizures, poor muscle tone, breathing and eating difficulties, eye movement difficulties and some. If diagnosed with this type of Niemann Pick Disease, it is possible to live until adulthood and is usually developed during childhood5.
What are the advantages and disadvantages for the individuals with the condition? Some advantages for individuals with the condition knowing its origin are that for one, these individuals are aware that they inherited the disease from their parents meaning their parents themselves also know the fact that they are carriers of the mutated gene. This being said, the parents can further understand that having another child could lead to a similar if not identical situation and the risks this occurring could be quite high.
The advantage of this situation would be that these individuals could get tested and search for help by talking to doctors, physicians or another medical figure they believe may have insightful information. This allows the family to better plan around the situation they live in should they want to conceive another child. Not to mention the individual affected by the Niemann Pick Disease also understands that he or she can pass on the disorder to their future children and whether or not they are willing to take that risk is the real question.
On the other hand, there are also disadvantages for individuals that know the origin of the disease. Take the victim of the disorder for instance, they must decide whether or not they want to risk having children that may or may not inherit the disease, without forgetting that the parents of this individual (the carriers of the mutated gene) may very well be force to decide that they will not conceive again in order to protect the child from inheriting that mutated gene.
The individual affected with the disease and his or her surrounding family and friends must also face the reality that he or she may very well die at a young age if not soon after learning they inherited the gene. What are the ethical implications regarding this disease? Ethics are defined as moral principles that govern a person’s or group’s behavior as well as what is seen to be “right” in society’s eyes6. Regarding Niemann Pick Disease, there are a few ethical concerns and implications that tend to be similar to other operations, treatments and procedures.
For instance, in some cases it is possible to use methods such as molecular genetic testing as a measure of prenatal testing with a 25% chance of inheriting the disease7. The procedure tests fetal cells that were extracted from the fetus around the gestation period of 15-18weeks. Some may say this is necessary in order to determine whether or not the child will be affected by the disorder however, keeping ethical concerns in mind, others may very well consider it inhuman to insert a needle into the mother’s stomach and abdominal to reach the child, which is turn could possibly damage some of the mother’s tissues and organs.
Especially considering there is no cure for the disease, therefore prenatal testing will do no good other than confirm whether or not the child has inherited the mutated gene. In sum, it has been made clear on numerous occasions that Niemann Pick Disease is a condition genetically inherited by an offspring from his or her biological parents. As of yet, there is no cure of the disorder however there are other procedures in place to deal with some of the symptoms displayed in the four separate types of Niemann Pick’s Disease.
For example, medications and therapies dealing with seizures, eating and breathing difficulties and others. In addition to this, the advantages and disadvantages of knowing the origin of the disorder were made clear and in turn being aware of this information can allow some prevention regarding the spread of the mutated gene. Not to mention the ethical concerns regarding the disease were fairly general and similar to those usually seen such as possibly injuring humans, in this case the pregnant mother being a carrier of the mutated gene.
All in all, the only hope people have in not inheriting Niemann Pick disease is to know the origin it came from, if they are carriers of the gene they should consider not reproducing in order the spare the child they conceive as well as being aware of who they are getting involved with and having an understanding of previous family members and generations.
Bibliography Dictionary. (Unknown). Ethics. [Online]. Available: http://dictionary.
Reference. com/browse/ethics? s=t DUGDALE, David C.. (2012). Niemann-Pick Disease. [Online]. Available: http://www. nlm. nih. gov/medlineplus/ency/article/001207. htm Genetics Home Reference. (2013). Niemann-Pick Disease. [Online]. Available: http://ghr. nlm. nih. gov/condition/niemann-pick-disease PATTERSON, Marc. (2013). Niemann-Pick Disease Type C. [Online]. Available: http://www. ncbi. nlm. nih. gov/books/NBK1296/.