OCTOBER IS NATIONAL SPINA BIFIDA AWARENESS MONTH

Spina bifida is a major birth defect of a baby's spine. It is one of the most common, permanently disabling birth defects in the United States.

Spina bifida occurs within the first few weeks of pregnancy, often before a woman knows she is pregnant. It happens when the spine and back bones do not close all the way. When this happens, the spinal cord and back bones do not form as they should. A sac of fluid comes through an opening in the baby's back. Much of the time, part of the spinal cord is in this sac and it is damaged.

Most children born with spina bifida live full lives, though they often have lifelong disabilities and need many surgeries. Some of the problems that a person born with spina bifida might face include:

• Not being able to move lower parts of their body. (Some might need to use crutches, braces, or wheelchairs to get around.
• Loss of bowel and bladder control. (Some might have to wear protective clothing. Others learn new ways to empty their bladders and bowels.)
• Fluid building up and putting pressure on the brain (hydrocephalus), which needs to be fixed with an operation.
• Learning disabilities.
• Allergy to latex (a created material found in some rubber-type products such as balloons or hospital gloves).

All children born with spina bifida don't have the same needs. Some children have problems that are much more severe than others. Even so, with the right care, most of these children will grow up to lead full and productive lives.

Preventing Spina Bifida

Most, but not all, cases of spina bifida can be prevented.

Folic acid is a B vitamin that the body needs to make healthy new cells. If a woman has enough folic acid in her body before and during pregnancy, her baby is less likely to have spina bifida or another defect of the brain or spine. Women need to take folic acid every day, starting before they get pregnant.

Every woman who could possibly get pregnant should take 400 micrograms (400 μg or 0.4 mg) of folic acid daily in a vitamin or in foods that have been enriched with folic acid.

PASSED ON FROM PARENT TO CHILD

Genetic diseases are transferred from parent to child.  The parent or parents may pass on an abnormal gene or chromosome along to their child beginning at conception. 

Some genetic diseases are transferred by abnormalities in the parents while others are the transfer of germs from parent to fetus.  Currently there are 4,000 genetic diseases that have been noted by doctors.  Some genetic diseases are as basic as not being able to see color (Achromatopsia) while others are severe and debilitating (Autism). 

I have to ask myself how unlucky can one small family be, to have three different types of genetic diseases, two sisters, one with a daughter who has Spina Bifida , the other, whose son has Coffin Lowry Syndrome and a cousin with Celebral Palsy.


To be continued

WHAT IS SPINA BIFIDA ?

 

Spina bifida means 'split spine'. There are 33 vertebrae in the spine - if one or more of these don't form properly in early pregnancy, the nerves in the spine may be unprotected, leading to damage of the central nervous system.

This damage may cause mobility difficulties, bladder and bowel problems and, in more severe cases, paralysis below the affected part of the spine.

Disruption of the nervous system depends on how high up the spine the problem lies and how well the spinal cord below the defect works.

Symptoms

In spina bifida occulta, which affects up to one in ten people, there may be visible signs of a dimple or small hair growth on the back. Often people don’t even know that they have it and it is noticed on an xray that is taken for another reason. This is a mild form and rarely causes disability.

In spina bifida cystica there is a sac or cyst (like a blister) on the back, covered by a thin layer of skin. The sac contains tissues that cover the spinal cord, cerebrospinal fluid and sometimes even the nerves and tissues of the spinal cord itself.

There are two forms of spina bifida cystica:

Meningocele - the sac contains tissues that cover the spinal cord (meninges) and cerebrospinal fluid. Nerve damage is minimal, so there's often little disability.

Myelomeningocele - the sac contains tissue, cerebrospinal fluid, nerves and part of the spinal cord. Spinal cord damage or incomplete development always occurs, resulting in paralysis and sensation loss below the damaged region. Many lose the ability to walk as they grow.

There's often an accompanying condition called hydrocephalus (increased pressure in the fluid in the brain, which causes some very young children's heads to swell with the pressure), which can gradually damage brain function especially if untreated. Other problems include incontinence and urinary tract infections.
Myelomeningocele is more common and more serious than meningocele.

Causes and risk factors

The cause of spina bifida is unknown, but it's thought to result from a combination of genetic and environmental factors.

Faults in the LPP1 gene have recently been identified as contributing to a severe form of the condition. A couple with an affected child has a one in 25 chance of another - and an affected person has a one in 25 risk of having an affected child.

Antenatal blood tests can indicate the condition during pregnancy and 90 per cent of cases are picked up during ultrasound scans.

Treatment and recovery

If the defect is minor, usually no treatment is necessary. If the defect is more serious, then surgery to repair it is often performed.

In cases where hydrocephalus is present, surgery is sometimes necessary to drain the cerebrospinal fluid that builds up. Normally, this fluid would flow from the brain down the spinal column before being absorbed into the bloodstream, but if the spinal cord is damaged it can't escape.

Physiotherapy helps with mobility. Regular use of a urinary catheter may be needed if there are difficulties passing urine normally. Emotional support is important, and special teaching may be necessary.

Taking a daily folic acid supplement from at least one month before conception through to the end of the 12th week of pregnancy can reduce the risk of spina bifida by up to 70 per cent.

It's recommended that women of child-bearing age take a 400mcg supplement of folic acid every day, in addition to a dietary intake of 200mcg folic acid a day.

Foods containing folic acid include:

• Fortified breakfast cereals
• Baked beans
• Green leafy vegetables
• Peas and chickpeas
• Oranges

Advice and support

Association for Spina Bifida & Hydrocephalus

• Tel: 0845 450 7755 begin_of_the_skype_highlighting              0845 450 7755      end_of_the_skype_highlighting
• Website: http://www.asbah.org/

Scottish Spina Bifida Association

• Tel: 0845 911 1112 begin_of_the_skype_highlighting              0845 911 1112      end_of_the_skype_highlighting
• Website: http://www.ssba.org.uk/

SPINA BIFIDA (LATIN "SPLIT SPINE")

The SBHASA’s symbol is the daisy, which represents the challenges of spina bifida and hydrocephalus.

The HEART of the flower represents the brain, which in the case of persons living with spina bifida is often affected by hydrocephalus.

The daisy’s petals are cloven and represent the various lesions caused by spina bifida.

The daisy’s leaf and stem are irregular and depict the unusual form of the spinal cord and backbone of a person born with spina bifida.

What is Hydrocephalus?

Hydrocephalus means 'water on the brain' and is an excessive amount of fluid that surrounds the brain and spinal cord called cerebrospinal fluid (or CSF).

 

Symptoms

Symptoms depend on the cause of the hydrocephalus, the age at which it develops and the extent of damage to the brain. There may be no symptoms.

In small babies, where the bony plates of the skull haven't yet fused, the head may enlarge as the sutures (joins between bones) separate and the fontanelle (soft spot) bulge. The eyes may appear to look downwards (called the setting-sun sign). There may also be vomiting, muscle spasm and increasingly irritability.

Later there's delayed development and growth, learning disabilities, decreased movement, poor feeding, sleepiness and urinary incontinence.

In older children there may be headache, vomiting, blurred vision, loss of coordination and problems walking, confusion and drowsiness.

 

Causes and Risk Factors

In hydrocephalus, CSF builds up and puts pressure on the brain, squashing the delicate tissues and causing the chambers or ventricles within the brain to swell. Without treatment damage or destruction of the brain tissues may occur.

There are two types of hydrocephalus:

• Non-communicating hydrocephalus - the flow of CSF through the brain is blocked.
• Communicating hydrocephalus - either too much CSF is produced, or it isn't reabsorbed back into the tissues as it should be, so volume increases.

There are many causes of hydrocephalus:

• Bleeding in the brain (for example if a baby is born very preterm)
• Congenital malformations (structural abnormalities that are present from birth)
• After infections in the brain
• Brain tumours
• Abnormalities in the blood vessels in the brain

 

Treatment and Recovery

The aim of treatment is to reduce and control the pressure of fluid within the skull to minimise damage to the brain.

The main treatment is surgery, usually to insert a shunt (long tube) that drains fluid from the brain,normally into the abdominal cavity, allowing the fluid to drain away Sometimes it's possible to remove the obstruction to the flow of CSF.

Untreated hydrocephalus has a high mortality rate and there may be extensive brain damage.
With treatment children may lead a fairly normal life, depending on the cause of the condition. However, there may be persistent neurological problems and there's a considerable risk of complications, such as brain infection and problems related to the shunt.


SOURCE: BBC HEALTH GUIDE