More about caring
Here we explore in detail many of the practical problems of caring for a baby with trisomy 13, 18, or a related disorder. Discuss any worries with your GP or paediatrician.....
Seizures
Seizures may describe frequent jitteriness lasting seconds or mild fits that cause the limbs to twitch. These may do little more than startle the baby, occasionally causing crying, and tend to happen more often when the child is going into or coming out of sleep. They are called myoclonic jerks and are caused by an excess of electrical activity in the brain.
During severe seizures the body of the baby will be rigid and the limbs extend. Treatment consists of anti convulsant medication, and it can be difficult finding the correct dosage, too much and the child becomes lethargic and unresponsive, too little and there may be an increase in the number and severity of the seizures. Seizures can be accompanied by apnea, and you will be taught the best way to look after your baby during a convulsion or an attack of apnoea.
Kidney and Urine Infections
Kidney defects make babies prone to urinary infections and these should be suspected if the baby develops a fever or other unexplained symptoms. Recurrent urine and kidney infections may need long term antibiotic therapy although they can eventually lead to renal failure.
Massage and Physiotherapy
Physiotherapy and gentle massage can begin as soon as baby is well enough in hospital or comes home. Babies with trisomy 13 and 18 clench their fists in a characteristic way and a physiotherapist can demonstrate the correct way to give the baby gentle massage and stretching exercises.
Chest physiotherapy assists in the prevention of chest infections, and a good seating position from a few weeks old will improve head control and aid mucus drainage. Parents can learn how to use a suction machine if needed.
Massage
Some hospitals encourage massage with unscented massage oil to which a few drops of an essential oil such as orange blossom or lemon has been added, but it is essential to consult the pediatrician or physiotherapist before starting any treatment.
Play Therapy and Toys
Physiotherapists can show parents how to stimulate their babies. For eye development and co-ordination, silver paper or shiny bells can be moved slowly across in front of baby for the infant to 'track'. Mobiles are beautiful to watch and music or bells are interesting to listen to.
A baby may not reach for a toy immediately but by holding it in front of baby, rattling and turning it for the eyes to follow, placing it in baby's hands - they will begin to experience 'play'.
A Child Development Centre can offer regular 'play stimulation and physiotherapy' when baby is about 6 months, but much can be done before that, at home by the parents and visiting therapists. Hydrotherapy is an excellent means of stimulation, and fun therapy for stiff muscles and limbs.
Heat Sensitivity
Babies with trisomy 18 may be sensitive to changes of temperature and can become distressed in hot weather.
Heart Defects
Heart defects affect about 80% of babies with trisomy 13, and 90% of babies with trisomy 18, and may be mild or life threatening.
The Normal Heart
The heart is divided into 4 chambers. The upper chambers are called the atria (auricles), and the lower chambers are called the ventricles. Blood is pumped through these chambers, aided by 4 heart valves which open and close.
Common Heart Defects
Ventricular Septal Defect - A hole between the lower chambers of the heart. The heart has to work harder and may become enlarged. A small opening does not strain the heart and the only abnormal finding is a loud murmur. A large opening can cause serious complications. The loudness of the murmur does not tell how large the defect is. The baby may need treatment to clear congestion from the lungs and make breathing easier.
Atrial Septal Defect
A hole between the two upper chambers of the heart making it difficult for sufficient oxygenated blood to be pumped to the body's tissues and a heart murmur is heard.
Dextrocardia
The location of the heart in the right side of the chest.
Tetralogy of Fallot
A large hole between the two ventricles, and a narrowing at or just beneath the pulmonary valve and this results in blueness (cyanosis) which may appear shortly after birth.
Patent Ductus Arteriosus
Every baby is born with an open passage way between the aorta and the pulmonary artery (ductus arteriosus). This normally closes within a few hours of birth and failure to close is quite common in premature babies. When a baby has a chromosomal abnormality this process may take several weeks, and if this fails to happen some of the blood that should have gone through the aorta and on to nourish the body, is returned to the lungs.
Tests
There are tests to determine the extent of a heart defect, and these will include a physical examination and possibly blood and urine tests. After reviewing the examinations and tests the heart specialist (cardiologist) will make recommendations about possible treatment and may want to see the child at regular intervals.
Chest X-ray
Provides information about the size and shape of the heart and the lungs.
Electrocardiogram
Electrical impulses generated by the heart beat are recorded on a graph.
Echocardiogram
High frequency sound waves create an image of the heart.
Eye Problems
Chromosome defects can result in the lids not developing and a baby will be unable to see when the eyelids completely cover the eyes, or if the lids are partially separated, and vision will be restricted to looking in one direction only.
The eyeballs may be absent or miniature eye(s) (micro-ophthalmus). Such small eyes often have short or long sight. The cornea is the window of the eye, and an abnormal shape creates a gross distortion of vision.
Absence or poor development of the eye muscles can result in double vision and a squint (strabismus) where the eyes do not move together as a pair, and occasionally the eye will be unable to move in a particular direction.
Preventing Eye Infections
The function of the eyelids are to protect the eyes, and blinking removes dust and bacteria that settle on the surface of the eye. Poor eyelid action leads to eye irritation. Where the lids are partly open there is a space where bacteria can collect, and this and inefficient blinking may explain why babies can have chronic eye infections with persistent sticky eyes requiring antibiotic therapy. Careful bathing of the eyelids using sterile saline moistened buds to clean the lid edges is a good idea.
Light Sensitivity
The iris is the coloured part of the eye, and can be absent (aniridia), or mis-shapen (coloboma) . These defects reduce the sharpness of the image formed by the eye and are not easy to correct, and they may allow excess light to enter the eye causing children to have an aversion to bright light.
Children can react badly to light levels even when the eyelids are closed as light penetrates the eyelid and enters the eye if the pupil is missing or enlarged. Glasses with a combination of protective ultraviolet absorbing, and possibly infra-red absorbing, lenses with a tint to reduce glare can help.
Any degree of cataract reduces vision and scatters the light entering the eye thus causing glare and sensitivity to bright light. Some relief can be obtained by using protective lenses, and a peaked hat or cap to shade the eyes. The jelly like vitreous material between the lens and the retina may not be clear, and can cause similar problems to cataract.
The SOFT UK booklet YOUR BABY explores the practical issues of caring for a baby with 13/18 and is free of charge to families.
