There are several challenges and blessings to being a parent of a special needs child. Additionally, the challenges have changed as our child has grown. When she was little the greatest challenge was probably accepting the disability and how others perceived the disability as well. As she grew, it was the worry about educational and medical options that would best benefit and assist our child. Currently, the greatest challenge is learning how to handle the frequent outburst and tantrums our child is having at home and at school. Every new stage in growth and development seems to present its own blessings and challenges.
Throughout the world, there are many genetic disorders that are well known to society. For example, Down Syndrome, Colorblindness and Autism are a few that people have knowledge of or know at least a fair amount of information of what those conditions are all about. Genetic conditions such as Jacob Syndrome however are rarely talked about. Even though it’s considered as minor compared to the others, it’s a genetic disorder that should still be known even if it’s just a small amount of info given.
A disease that results from a change to an individual's DNA is classified as a genetic disorder. The change can be very small such as a single mutation in a particular gene or complex like the addition or removal of a complete chromosome. An instance of a genetic disorder that affects a particular gene is Marfan syndrome. Marfan syndrome is an inherited disorder which alters the connective tissue in the body (Frey R, Sims J, 2010). Individuals with this disorder are affected in multiple areas because connective tissue is present all through the body. It is common for affected individuals to show irregularities in their eyes, circulatory system, skin, lungs, and musculoskeletal system (Frey R, Lutwick L, 2009).
In the book it says "They can spend a whole lifetime worrying whether they 're carriers, and then we come along and offer them a test. Recessives and X-linked. Look what they 're doing with fragile-X nowadays. And cystic fibrosis. Just imagine the commercial possibilities if you can design and patent a probe for something like Gaucher 's disease...(69)" Recessive traits is the phenotype is seen only a homozygous recessive genotype for the traits of the interest is present. The booked talked about two of three diseases that are most common in the Ashkenazi Jewish population. The first one is Cystic fibrosis which is an inherited life-threatening disorder that effects the lungs and the digestive system. The other one mention in the book that wasn’t mention in class was Gaucher 's disease. Gaucher 's disease is a build up of fatty substances in your organs, usually in you spleen and liver. Which causes them to become bigger affecting their function. The last one that we learned in class was Tay-Sachs disease, which is a rare inherited disorder that destroys nerve cells in the brain and spinal
Most individuals are either related to or know someone who is effected by some type of disability. Many of these disabilities are caused by genetic disorders. Genetic disorders may alter physical appearance and cause mild to severe mental retardation. Fragile X syndrome, Down syndrome, Turners syndrome and many other syndromes result from a mutation of a chromosome, an extra chromosome, or too few chromosomes.
Each of us carry about half a dozen defective genes. Most of us do not suffer any harmful effects from our defective genes because we carry two copies of nearly all genes, one derived from our mother and the other from our father. Because in the majority of cases, the potentially harmful gene is recessive, its normal counterpart will carry out all the tasks assigned to both. Only if we inherit from our parents two copies of the same recessive gene will a disease develop.
A genetic disorder is a sickness caused by one or many abnormalities or absentees in the genes or chromosomes. One interesting genetic disorder such as cancer, are found genetic but, can also be caused and affected by many by environmental factors such as being exposed to asbestos which may increase the risk of lung cancer and many other cancers. While on the other hand most disorders like Williams Syndrome are genetic and are primarily rare and only affect a limited amount of people about one in every several thousand. Because it is a genetic disorder that is estimated between 1 in 10,000 people worldwide, primarily caused by a micro-deletion on the seventh chromosome is what indicates the disorder being Williams Syndrome.
Bipolar disorder is believed to be a genetic disease. Bipolar I disorder is rarer than bipolar II. Once again if a parent has bipolar disorder than the offspring is at a higher risk rate for bipolar disorder. A study at John Hopkins was done amongst patients with bipolar disorder.
Hutchins, B. (2013, November 4). Interview by S Pappas. An Adult Perspective: Concerns for a Special Needs Sibling.
Having a chronic physical disability affects many aspects of a person’s life beyond his or her general health (Eiser 1997). Myelomeningocele, the most severe form of spina bifida (SB), is commonly associated with hydrocephalus, Chiari II malformation, diminished or absent sensation or motor function in the lower limbs, and impaired bowel and bladder control (S.L. Kinsman 2007). Many people with SB rely on some form of assistive technology for mobility, such as wheelchairs, crutches, or orthoses. Regardless of the type of assistive technology used, restricted mobility has been linked to poor social integration (Blum 1991; Dicianno 2009). People with SB may experience social disadvantages including reduced opportunities for peer relationships, a prolonged dependence on parents, and decreased community integration (Cate 2002). Children with SB have been found to be more socially immature and less engaged during social interactions than their same-aged peers without SB (Holmbeck 2002). It is also common for children to be hyperverbal, chatty, and articulate in conversation while the content of their speech is superficial or inappropriate for the context. This type of behavior pattern, called “cocktail-party syndrome,” is multifactoral in origin but may be cultivated in part by well-intentioned parents of children who lack the balancing negative reinforcement of peers when the speech becomes inappropriate (Tew 1979). Communication disorders may further complicate the ability of people with mobility disorders to hold coherent conversations and develop meaningful friendships (Burleson 1986). In one study of children with developmental disorders, 47.5% of caregivers reported that their child did not have even one cl...