Edward's Syndrome (Trisomy 18)
What is Edward's Syndrome?
Edward's Syndrome is a disease that is caused by an error in cell division, which is classified as a meiotic disjunction. With this syndrome, an extra 18th chromosome is found instead of the regular two. It is mostly seen in very young children who are lucky to see birth due to the disease.
Trisomy 18 Foundation Video
Symptoms and Causes
People born with this syndrome are usually very weak and experience deformities in their ears, mouth, jaw and may even have a cleft lip. Heart disease and lung problems are also associated with this disease. The process of this disease's formation in the body is rather simple. After the female egg is fertilized, extra material from chromosome eighteen is sometimes received instead of just two. In most cases, "full trisomies" are inherited. These are three full copies of chromosome eighteen. Some instances have been found where only part of the extra chromosome has been transported. This disease is considered to be a mutation since it does affect the genetic makeup. This disease also appears to not have any signs of being sex-linked and is neither dominant nor recessive.
Sadly, there is no definite treatment for Edward's Syndrome since there is yet to be a cure. The symptoms can be dealt with by numerous specialists though. Guidance groups for coping with this disease are found all over the nation where couples can go and explain there situation and here other couples' situations.
Between weeks 10 and 15 of pregnancy, the mother is offered a screening for Edward's syndrome through a combined test. This test combines a nuchal translucency scan with a blood test. This test is versatile, as it can also be used in other disease screenings.
Jaxton's Story // a trisomy 18 battle
Approximately 1 in every 5,000 babies born are diagnosed with Edward's Syndrome. It is also found to occur more frequently in females. Location is not a strong factor in Tri-18 due to the inheritance pattern. Very few adults are found with Edward's Syndrome due to the low percent chance of an infant surviving more than a few years of life.
What I discovered...
I have found that this disease is one of the most fatal disorders in medicine. Over 70% of diagnosed children do not see but a few years of life. The fact that there is no definite treatment or cure for Edward's Syndrome is devastating. It is one of the only disease I have ever heard of being neither dominant or recessive.