Cystic Fibrosis By: Olivia DeCoste

What is Cystic Fibrosis? Cystic Fibrosis is a life threatening disease that causes severe damage to the lungs and digestive This picture is of a lung of a person who was diagnosed with Cystic Fibrosis. The lung is filled with mucus.

MEDical

How Does a person inherit it? Dominant or Recessive? A child inherits Cystic Fibrosis when they receive a recessive allele from each parent. Cystic Fibrosis is an autosomal recessive trait.

What are the genotypes of the parents What are the genotypes of the parents? If the disease is a chromosomal abnormality, describe the abnormality. In order for the child to receive the genetic disease than both parents had to have had a least one recessive allele. The genotype possibility’s of the parents are Heterozygous or homozygous recessive. There is an abnormality on chromosome 7. Chromosome 7 produces a protein that helps salt move in and out of cells. People who have Cystic Fibrosis aren’t able to do this function properly.

Show a Karyotype of the condition if applicable The mutation is too small to see on a karyotype, but it affects the 7th chromosome.

How prevalent is the disease in the population? Cystic Fibrosis affects about 70,000 people worldwide. The number continues to increase as people get diagnosed. Approximately 1 in 3600 children born in Canada have Cystic Fibrosis.

What are the chances of a person with this disease passing this disease to their offspring? There is a chance that people with the disease can successfully reproduce but the chances are much lower than people without the disease.

How is the disease diagnosed? Doctors can do a sweat test which measures the amount of salt in your sweat. A high salt level and other symptoms means that a person has cystic fibrosis. Doctors can also do a cheek swab or blood sample to look for mutagens. Genetic tests can be used to diagnose Cystic Fibrosis prenatally before a baby is even born.

What are the physical symptoms of the disease? A persistent cough that produces thick mucus Wheezing Breathlessness Decreased ability to exercise Repeated lung infections Inflamed nasal passages or stuffy nose

What is the life expectancy of someone with the disease? The average life expectancy for someone who has Cystic Fibrosis is around 40 years old.

How can the disease be treated? There are some medications to help with the disease. Steroids and Antibiotics are used to help treat any infections that are present. Nutritional diets are made for people with the disease. Transplants are also done if they are needed. Liver transplants and lung transplants are done. Doctors can’t remove just one lung they have to remove both so they are disease free.

Personal

What is everyday life? What is the quality of life? For most people with the disease everyday life consist of physical and inhalation therapy's to keep the lungs clear of congestion. It also can include high-calorie diets and lots of supplements such as vitamins to help with nutrition. Most people lead normal lives for many years, they are able to do everything normal people can do but after a few years there are limitations to what they can do.

What limitations does the person have? Have to avoid people with contagious illnesses Watch what they eat No smoking

What are some organizations that can help a family cope with a child’s disorder? Cystic Fibrosis Family Support Group http://www.cysticfibrosis.ca/en/chapters/Hamilton/ParentSupportGroup.php Cystic Fibrosis Canada http://www.cysticfibrosis.ca/en/aboutCysticFibrosis/DiseaseInformation.php

How possible is it that a cure will be found? There is no cure yet for the disease but researchers keep looking for possibility’s. they have already been able to lengthen the lives of people with the disease through the treatments and transplants.