Down s Syndrome What is the most common genetic condition? Down syndrome, the chromosomal

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1 Erin Thompson Miss. Brant Biology Genetic project December 3, 2013 Down s Syndrome What is the most common genetic condition? Down syndrome, the chromosomal disorder, is the most common. This genetic condition happens when either the egg or sperm cell doesn t split. It is caused by an error in cell division. You have 46 chromosomes. You get 23 chromosomes from each of your parents. What happens is the egg or sperm cell doesn t split giving you the 23 from one of your parents and giving you 24 from the other. The child then has 47 chromosomes giving the child the extra of chromosome 21. With being a genetic counselor, I have to make clear to the parents what they are getting involved with and what might happen. It isn t the parents fault for the condition. It just happens that way. They can t help that the cell division had an error. The parents don t have to be carriers or have the disorder. If the cell doesn t split then it gives the extra of chromosome 21 giving the child the disorder. This is kind of a sex linked trait. This disorder isn t environmentally induced either. It just happens and it is hard to get the parents to understand that. With the child having a mutation of addition, meaning that there was a chromosome added, they have different characteristics. The mutation can cause slow muscle tone, small stature, upward slant in eyes, and deep crease across the center of the palm. They usually have mental retardation. This disorder causes living to be difficult. With the mental retardation, the child s mind could maybe never improve. The parents can be stuck and are usually stuck taking care of their child their whole life. The

2 child may only have a mind of a 2 or 3 year old. You can t leave them to grow up by themselves.the child may be 30 years old, but their mind isn t. The parent will be depended on the rest of their life. If the parents really wish to know if their child has Down s syndrome before they are born they have two options. They can have screen tests or diagnostic tests. The prenatal screens estimate the chance of the fetus having Down syndrome. It only gives an estimate, not a definite. The diagnostic test can give you a definite diagnostic that is almost 100% accurate. Even though diagnostic tests are so accurate the do carry up to 1% risk of causing a miscarriage. It is the parents choice to have these tests done. Down syndrome is usually identified at birth. At birth you can see certain physical traits that set the baby apart from what we usually look like at babies with just 46 chromosomes. Since the traits can be present in babies that don t have Down syndrome, they will have a chromosomal analysis done. The analysis is called a karyotype. To get the karyotype the doctors have to take a blood sample the examine the baby s cell. They then have a special tool that photographs the chromosomes and then groups them by number, size, and shape. When doctors examine the karyotype they can then diagnose the Down syndrome. My advice to the parents that are expectant of a child with this disorder is to still have the baby. It isn t a for sure whether or not the baby will have Down syndrome. If the family does have a child with Down syndrome then they need to adapt to the needs. The child will have mental retardation so the parents are going to have to probably take care of their child the rest of their life. Get the child the right schooling and the right

3 medicine. There are financial aids for Down syndrome. Make it a positive thing instead of a negative. You can t help how your child is, but you can help how much you care and love your child. Zach Holshu (Parent) Miss Brant Biology As a parent with a disability you have many different responsibilities than a parent of normal child might have. You may have to face financial stresses as long as other stresses that may occur. There is many things that go into raising a child with down s syndrome. With financial stresses also comes financial aid. A parent of a child with down s syndrome may apply for several different financial aid opportunities. There are many different opportunities for receiving financial aid one being disability living allowance which is for the person with down s syndrome. Another is carer s allowance which is given to the person/persons taking care of the person with down s syndrome. People with down s syndrome are able to receive a free public education. A child with down s syndrome may have health defects those maybe one of many things could be loss of vision and hearing. They could be diagnosed with

4 leukemia as a child, which is cancer of the the bone marrow and maybe acute lymphoblastic leukemia, acute myelogenous leukemia, chronic lymphocytic, or chronic myelogenous leukemia. A congenital heart defect which is where there is a defect in the structure of the heart and is present at birth. They may also have respiratory problems which is your lungs and breathing. Obstructive digestive tract is caused by deformed digestive organs. Dealing with these defects can cause major amounts of stress from the financial costs of dealing with these medical problems. Along with routine check ups and medicine if needed. Other stress may include having to be more hands on and need almost complete attention when your child brings to grow up. This is because they do not function as a normal child their age as they grow. This is sometimes hard on parents because they child may not like school. When they are done with school what would they do then, do you stay home with them try to find someone to stay with them which would be a cost to you or enroll them in a workshop where they can have a job and make money. If you enroll them in a workshop then you have to make arrangements if they needed picked up or dropped off from the bus stops. There are many different things that go into deciding to have a child if down s syndrome is a likely possibility. Then there is all the different things that go into raising a child with down s syndrome. With that there are many opportunities for aid being financial and education.

5 Dakotah Miller Miss. Brant Biology Genetic Disorder December 3, 2013 Down s Syndrome As the patient of the genetic disorder down syndrome, my job is to explain how down syndrome affects my daily life, what I may look like, and the problems I have physically and mentally. Children with down s are very special and need special attention, here s why. Children with down syndrome have certain and very distinct physical features on the outside of their body. Most children with down s will have upward slanting almond shaped eyes, a flatter face, a smaller somewhat flat nose, a protruding tongue, and small ears. Not all children with down s have these features but a majority of them do. Children with this genetic mutation even with the physical defects can be the cutest and most playful children in the world. Even with down syndrome depending on the severity of it, the people affected with it can grow up to lead healthy and successful lives, some eventually able to live by themselves. In order for this to happen getting help at an early age or teaching them

6 from the infant years can be the key to helping them live independently. Even with down s these children can go to regular schools, make friends, and later get a job. Just because these children learn at a slower pace and may have learning disabilities doesn t mean they can t do it, just means it may take a bit longer and they may do it differently. Overall about half of the children born with down s have heart defects that can be corrected with surgery. Less common defects with the insides of the body are digestive abnormalities, such as the blockage of the intestines. Children with down s have an increased risk of developing medical conditions, such as gastroesophageal reflux, or acid reflux. Another is celiac disease, which is when the body is intolerant of a wheat protein called gluten. About 15% of people with down syndrome have an underactive thyroid gland(hypothyroidism), which the thyroid gland is a butterfly shaped organ in the lower neck and produces hormones. Also these children have an increased risk of vision and hearing problems. In conclusion children with down syndrome live a completely different life from the average person. Normally have to be cared for and helped through their lives. With a short life expectancy of about 50+, no more than 65 usually, they should be allowed to experience things early in life because they won t have much time on this earth too. Having a child with down s may be the biggest blessing of your life, there is no reason to not have a child even with the chance of down s, either way it s your child and children with down s can be the most loving kids and people in the world.

7 Dakotah Miller