BIRTH DEFECTS

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THE KING AND THE SCRATCHED DIAMOND…

Once there was a king who had a beautiful, large pure diamond. There was no other diamond like it in the world. One day, it became deeply scratched. The king told his best diamond cutters, “I’ll promise you a great reward if you can remove the imperfection from my jewel.” But they could not. The king was very upset.

Many months later, a man came to the king. He promised to make the diamond even more beautiful than it ever had been. Impressed by the man’s confidence, the king consented. He watched as the man engraved an exquisite rosebud around the blemish and used the scratch to make its stem.

--Parable of the Preacher of Dubno from Jewish Folklore

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PURPOSE OF THIS PARABLE…

This story can easily be related to birth defects. Even though a child with a birth defect may not appear to be perfect, he/she still has great abilities and opportunities to apply him/herself in life. Rather than emphasizing the problem, we must focus on the abilities of the person.

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Everyone is born with some

type of imperfection.

BIRTH DEFECT

An abnormality that affects the structure or function of the body.

Most, like a birthmark, are relatively minor .

Some are born with more serious problems that threaten their health or ability to live.

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Facts:–150,000 babies are born each year with birth defects.

–1 out of 28 parent receive news that their baby may have

a defect

–There are 4,000 known birth defects

–Birth defects are one of the leading causes of death in the

first year of life

FACTORS THAT INFLUENCE BIRTH DEFECTS

Heredity: genes, chromosomes

Environment: diet, pollution, substances, radiation, diseases

A combination of heredity and the environment

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HELPING TO PREVENT BIRTH DEFECTS

• Early and regular prenatal care

• Avoid alcohol, drugs, smoking, medications

• Have vaccines before ever becoming pregnant

• Take a multi-vitamin & folic acid

• Become educated

• Rh vaccine during pregnancy

• Consult with genetic services

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FOLIC ACID is critical in decreasing the risk of an infant being born with a

birth defect (found in dark green vegetables, dried beans, lentils, avocado)

COLOR BLINDNESS

Color blindness, or color vision deficiency, in humans is the inability to perceive differences between some or all colors that other people can distinguish. It is most often of genetic nature, but may also occur because of eye, nerve, or brain damage, or due to exposure to certain chemicals.

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POLYDACTYL

A congenital anomaly consisting of supernumerary fingers or toes. Each hand or foot has six digits.

Although the condition is usually not life-threatening or even particularly debilitating, most people in Western societies have the extra digits removed surgically.

The extra digit is usually a small piece of soft tissue; occasionally it may contain bone without joints; rarely it may be a complete, functioning digit.

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PKU (PHENYLKETONURIA)

Phenylketonuria (PKU) is an recessive genetic disorder characterized by a deficiency in the enzyme phenylalanine hydroxylase (PAH).

This enzyme is necessary to metabolize the amino acid phenylalanine to the amino acid tyrosine. When PAH is deficient, phenylalanine accumulates and is converted into phenylketones, which are detected in the urine.

Left untreated, this condition can cause problems with brain development, leading to progressive mental retardation and seizures. However, PKU is one of the few genetic diseases that can be controlled by diet. A diet low in phenylalanine and high in tyrosine can bring about a nearly total cure.

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HEMOPHILIA

Hemophilia (heem-o-FILL-ee-ah) is a rare, inherited bleeding disorder in which your blood doesn’t clot normally.

If you have hemophilia, you may bleed for a longer time than others after an injury. You also may bleed internally, especially in your knees, ankles, and elbows. This bleeding can damage your organs or tissues and, sometimes, be fatal.

About 18,000 people in the United States have hemophilia. Each year, about 400 babies are born with the disorder. Hemophilia usually occurs only in males (with rare exceptions).

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TYPE 1 DIABETES

A form of diabetes which has its onset in childhood. Also referred to as type I diabetes, juvenile onset diabetes or insulin-dependent diabetes. The exact cause is unknown but genetic factors seem to play a major role.

Symptoms include excessive thirst, increased urination, weight loss (despite increased appetite), nausea, vomiting, fatigue and absent menstruation.

Treatment includes education and regular insulin therapy.

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DOWN’S SYNDROME

Down syndrome (DS) is a condition in which extra genetic material causes delays in the way a child develops, and often leads to mental retardation. It affects 1 in every 800 babies born.

Normally, at the time of conception a baby inherits genetic information from its parents in the form of 46 chromosomes: 23 from the mother and 23 from the father. In most cases of Down syndrome, however, a child gets an extra chromosome - for a total of 47 chromosomes instead of 46. It's this extra genetic material that causes the physical and cognitive delays associated with DS.

The symptoms of Down syndrome can vary widely from child to child. While some kids with DS need a lot of medical attention, others lead very healthy and independent lives.

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CLEFT LIP/PALATECleft palateCleft palate occurs when the roof of the mouth does not completely close, leaving an opening that can extend into the nasal cavity.

The cleft may involve either side of the palate. It can extend from the front of the mouth (hard palate) to the throat (soft palate). Often the cleft will also include the lip.

Cleft palate is not as noticeable as cleft lip because it is inside the mouth. It may be the only abnormality in the child, or it may be associated with cleft lip or other syndromes. In many cases, other family members have also had a cleft palate at birth.

Cleft lipCleft lip is an abnormality in which the lip does not completely form during fetal development. The degree of the cleft lip can vary greatly, from mild (notching of the lip) to severe (large opening from the lip up through the nose).

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CLUB FOOT

Clubfoot or talipes is a congenital deformity of the foot that occurs in approximately 1:1000 births with half of them being bi-lateral (both feet) and it is twice as common in boys as in girls. The foot has a typical appearance of pointing downwards and twisted inwards. Since the condition starts in the first trimester of pregnancy, the deformity is quite established at birth, and is often very rigid.

Treatment options:

Serial Plaster Casting

Splints

Non-Surgical Treatment Methods

Ponseti Method

French Physiotherapy Method

Botox - botulinum toxin

Surgery

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CYSTIC FIBROSIS

Cystic fibrosis is an inherited chronic disease that affects the lungs and digestive system of about 30,000 children and adults in the United States (70,000 worldwide). A defective gene and its protein product cause the body to produce unusually thick, sticky mucus that:

Clogs the lungs and leads to life-threatening lung infections; and

Obstructs the pancreas and stops natural enzymes from helping the body break down and absorb food.

In the 1950s, few children with cystic fibrosis lived to attend elementary school. Today, many people with the disease can now expect to live into their 30s, 40s and beyond.

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MUSCULAR DYSTROPHYMuscular dystrophy (MD) is a genetic disorder that weakens the muscles that help the body move. People with MD have incorrect or missing information in their genes, which prevents them from making the proteins they need for healthy muscles.

MD weakens muscles over time, so children, teens, and adults who have the disease can gradually lose the ability to do the things most people take for granted, like walking or sitting up. Someone with MD might start having muscle problems as a baby or their symptoms might start later. Some people even develop MD as adults.

The life expectancy for many of these forms of muscular dystrophy depends on the degree to which a person's muscles are weakened as well as how much the heart and lungs are affected.

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SPINA BIFIDASpina bifida is a birth defect that involves the incomplete development of the spinal cord or its coverings. The term spina bifida comes from Latin and literally means "split" or "open" spine.

Spina bifida occurs at the end of the first month of pregnancy when the two sides of the embryo's spine fail to join together, leaving an open area. In some cases, the spinal cord or other membranes may push through this opening in the embryo's back. The condition can typically be detected before a baby is born and treated right away.

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