By: Clare McGrath: Physician Alexa Sanchez: Genetic

Engineer Kristin Cohen: Geneticist

Sunshine Quimbo: ELSI Member

Genetic Disorders: Cystic

Fibrosis

INTRODUCTION

Genetic diseases have claimed the lives of millions of people each year and will effect generations down the line.

Due to “DNA Revolution”, the medical world can now diagnose diseases in unborn babies, and allow parents ahead of time to know if their child will carry the disease gene.

Knowing if the unborn baby has the disease can allow the doctors to offer treatment options including fixing the defective gene.

The physicians responsibility is the diagnosis and long-term future of the child.

PHYSICIAN

WHAT IS CYSTIC FIBROSIS?

Cystic Fibrosis is mucus buildup in the lungs and affects organs in the body, but mostly the lungs and digestive system.

Sadly there is no cure or way to prevent Cystic Fibrosis.

Cystic Fibrosis is an inherited condition.

Most common in Caucasian people.

CAN A BABY BE TESTED FOR CYSTIC FIBROSIS WHILE STILL IN THE MOTHERS BELLY OR EVEN

BEFORE?

The answer to this question is yes, the baby can be tested for Cystic Fibrosis before or while still in the mothers belly.

There are two tests, amniocentesis and chorionic villus sampling.

There are possible side effects to both of these tests which are miscarriages.

AMNIOCENTESIS

In this test, a small sample of the amniotic fluid that surrounds the fetus in the womb is taken and tested in a laboratory.

CHORIONIC VILLUS SAMPLING

In this test a sample of tissue (biopsy) is taken from the placenta and tested.

NEONATAL SCREENING This is used for newborns using “blood-spot-

screening”.

The doctor will prick your baby's heel using a special device to collect blood.

The blood sample is also tested for two other conditions, low thyroid function and phenylketonuria.

WHAT ARE THE SYMPTOMS OF CYSTIC FIBROSIS?

Cystic Fibrosis is well known for being a “Multi-System” disease because it affects many organs in the body.

Cystic Fibrosis makes digesting food and breathing difficult.

polyps (small growths) in the nose occur. Diabetes can occur, because cystic fibrosis can

damage the pancreas. infertility can occur in men, because the tube that

carries sperm, the vas deferens, may become blocked. fertility problems in women can occur, because cystic

fibrosis may cause nutritional problems and underweight women are more likely to have irregular menstrual cycles.

SYMPTOMS IN THE LUNGS

In the lungs, the mucus is thick and sticky and can not remove bebis and bacteria

Because the mucus is so thick, it can become the perfect environment for bacteria, and causes the risk of getting bacterial chest infections and pneumonia. (very hard to treat if not treated right away)

SYMPTOMS IN THE DIGESTIVE SYSTEM

In the Digestive System, the Pancreas does not produce enzymes which are supposed to help break down fat.

Without these enzymes, the fat in food is not properly digested and it is difficult to gain weight

OTHER TREATMENTS If a person has Cystic Fibrosis then they need daily

chest physiotherapy, which involves vigorous massage to help loosen the sticky mucus.

Enzyme therapy and other cystic fibrosis-related therapy such as:

• antibiotics to counter lung infections• mucolytics such as dornase alfa (Pulmozyme) to

make the sputum less sticky• dietary vitamin supplements, especially A, D and E• asthma therapy• insulin for diabetes• in severe cases, a lung or heart and lung

transplant operation

WHAT IS THE LONG TERM PROGNOSIS OF THE CHILD WHO AS CYSTIC FIBROSIS?

Most of the people with Cystic Fibrosis die around the ages of 20 to 31.

SOURCES Specialised Services National Definition Set: 10 Cystic fibrosis. Department of Health. 10

December 2002 The facts. Cystic Fibrosis Trust.

www.cftrust.org.ukaccessed 11 September 2006

£2.5 Million for gene therapy research into cystic fibrosis. Department of Health. www.dh.gov.uk. 4 January 2005

Annual review 2005. Cystic Fibrosis Trust. 2005.www.cftrust.org.uk

Cystic fibrosis screening programme.www.ich.ucl.ac.ukaccessed 13 September 2006

Simon C, Everitt H, Birtwistle J, Stevenson B. Oxford Handbook of General Practice. Oxford: Oxford University Press, 2002:466-467

Collier J, Longmore M, Scally P. Oxford Handbook of Clinical Specialities. 6th ed. Oxford: Oxford University Press, 2003

Symptoms. Cystic Fibrosis Trust.www.cftrust.org.uk14 September 2006

Amniocentesis and chorionic villus sampling. Royal College of Obstetricians and Gynaecologists. Guideline number 8. Revised January 2005.www.rcog.org.uk

British National Formulary 51, March 2006:170 Reviewed by Dr James Quekett, Bsc.MB Ch.B MRCGP DRCOG DFFP, partner/principal general

practitioner at Rowcroft Medical Centre.

The Genetic Engineer will propose treatment options and the outlook for future options.

GENETIC ENGINEER

WHAT ARE CURRENT MEDICALLY PROVEN TREATMENTS FOR CYSTIC FIBROSIS?

Treatment is different for everyone but usually involves medicine and home treatment

Home treatments include getting rid of all the mucus, eating healthy foods, and exercising help prevent future infections and or complications.

The best treatment available is generally found at cystic fibrosis multidisciplinary specialist centers which address the medical, nutritional, and emotional needs of people who have cystic fibrosis.

INITIAL TREATMENT

Tests such as a stool analysis, sputum culture, or lung function tests can help your doctor know how serious the disease is and how it is affecting your child's body.

Children with cystic fibrosis should have all the recommended shots in addition to pneumococcal and flu shots.

THERAPY Respiratory therapy refers to any treatment that

slows down lung damage and improves breathing. The focus of this therapy is on reducing infection

and getting rid of mucus to keep the lungs healthy. Medicines used in respiratory therapy include:

Bronchodilators Dnase & Mucolytics These aren't used as much because can irritate

the lungs

BRONCHODILATORS

(such as albuterol or salmeterol), which are used to make breathing easier. Bronchodilators may also make it easier to cough up mucus.

DNASE

(such as Pulmozyme), which is used to thin mucus in the lungs.

MUCOLYTICS

(such as Mucomyst), to thin mucus in the lungs and also in the intestines. These are not used very much, because they can irritate the lungs.