GENETIC COUNSELING CASE BY: CANDACE YOUNG

PATIENT ASPEN Aspen May Raine Willows Female 6 months old 10.3 pounds 21.6 inches Parents have noticed a chronic cough, and excessive wheezing that goes beyond a common cold.

EXAMINATION Upon examination, pediatric doctors in the emergency room found salt crystals on Aspen’s skin. Also, doctors noted the height and weight of Aspen is under average for babies six months of age.

DIAGNOSIS After examination, pediatric doctors believe Patient Aspen could have cystic fibrosis.

QUESTIONS 1.What exactly is cystic fibrosis? 2. How did my child get the disease? 3. How can you guys treat cystic fibrosis?

CYSTIC FIBROSIS Cystic fibrosis is a life-threatening genetic disease caused by a faulty gene. Cystic fibrosis affects the movement of salt in and out of certain cells. Symptoms can include wheezing, breathing problems, weight gain problems, and contracting diseases such as bronchiolitis and pneumonia.

PEDIGREE

The pedigree shows how the cystic fibrosis was passed on to baby Aspen. Both of you (the parents) are carriers for cystic fibrosis and therefore passed on the disease. It is likely that both, or one grandparent(s) on either side of the family are carriers and passed the carrying gene to the both of you.

PROGNOSIS People with cystic fibrosis often live a normal life up until adulthood. In adulthood, many affected people began experiencing worse complications such extreme muscle weakness to the point of inability to walk, and lung diseases (like pneumonia) to the point of hospitalization. The average life span of a person with cystic fibrosis is 37 years.

TREATMENT Inhaled medicines- Some people with cystic fibrosis take inhaled medicines (liquid medicine that is made into a mist or aerosol) to fight lung infections. Air therapy/airway clearance- This can be done using an inflatable vest that vibrates the chest at a high frequency to help loosen and thin mucus. Physical therapy- If a patient starts experiencing muscle weakness than physical therapy might be recommended. This will help your muscles stay active for longer.

GOING FURTHER As your doctor I would suggest future genetic testing seeing as you both are carriers of the disease. Genetic testing could allow you to better prepare for having a child with a disease financially, and mentally. Prenatal testing is a great option. It allows doctors to detect changes in a fetus’s genes or chromosomes before birth for people who have increased risk of their babies having a genetic disease such as you guys. However, if you decide you want to try to have a kid that doesn’t not have the disorder you could get preimplantation genetic diagnosis (PGD). This is a specialized technique that can reduce the risk of having a child with a specific chromosomal or genetic disorder. In PGD reproductive techniques such as in-vitro fertilization is used and only embryos without genetic changes are implanted in the uterus to initiate pregnancy.

MORALITY While some people believe that it is morally and ethically wrong to subject yourself or a baby to genetic testing and screening it is possibly one of the greatest medical interventions. Scientists and doctors such as myself have made these tests as safe as possible and seen the results benefit many families. If I was in your shoes I would greatly contemplate these tests in your future. However, it is ultimately your decision as parents to decide and I will be there to assist you in any way possible.