The condition is called CHARGE as these are the initials of the main symptoms.
- Coloboma of the eye – this is an eye problem where part of the eye did not develop properly in the womb. It looks a little like a keyhole and does not get any worse as the child grows older.
- Heart defects – the heart defects affecting children with CHARGE syndrome vary in severity, but can include ventricular septal defects and tetralogy of Fallot.
- Atresia of the choanae – this is another condition present at birth where one or both of the openings at the back of the nose are blocked by bone or tissue. Choanal atresia causes breathing difficulties, as babies do not breathe properly through their mouth for the first few months.
- Retardation of growth and/or development – children with CHARGE syndrome may not grow and develop at the same rate as other children their age. Often, they do not start puberty without additional hormone treatment.
- Genital and/or urinary abnormalities – boys with CHARGE syndrome commonly have a small penis and/or undescended testicles. The inner lips of the vagina in girls with CHARGE syndrome may be very small.
- Ear abnormalities and deafness – most children with CHARGE syndrome have some level of hearing impairment, varying from mild to profound, along with underdeveloped or low-set ears.
These symptoms are the most commonly seen in children with CHARGE syndrome but there can be other problems as well. A large proportion of children with CHARGE syndrome have some degree of learning disability but this can be variable. The facial features of children with CHARGE syndrome can be quite similar even though they are not related and include a small lower jaw and cleft lip and/or palate.
NARA has helped this little one with a respiration monitor (apnoea alarm) that alarms should she stop breathing to alert parents she needs help.
Well done lil lady, you have come such a long, long way. You truly are a ‘little miracle’.