"So what exactly is Patau Syndrome ?"

Quite early on I think the doctors suspected what the problem was and started mentioning Trisomies and Syndromes. Dad had never heard of some of these conditions, so he looked in his computer. There was quite a lot of information in there. What was surprising was that lots of people had heard of Downs, but not Patau or Edwards Syndromes.

He soon discovered that these "trisomies" can arise when the cells of the body have an extra chromosome. Each cell should have a pair of chromosomes but, when there are 3, it's called a trisomy. This usually happens at some point soon after fertilisation. Patau syndrome, named after the person who discovered it back in 1960, indicates the presence of an extra copy of chromosome 13. Unlucky for some, especially when you consider that I was "made" on Friday the 13th !

What dad also noticed was that I didn't seem to have many of the common symptoms, or features, that are commonly seen in babies with Patau Syndrome. I had stopped breathing for 3 minutes the 1st night I was in the SCBU, which is referred to as "apneoa", and I didn't open my eyes much in the early days, but there didn't seem to be much else wrong on the surface. I had big heels but they weren't sure if that had been because I'd been kicking Mummy so hard while I was inside her !

Once the blood tests confirmed Patau Syndrome, everyone asked us exactly what it was. We told them all that there was lots of information on the Internet, as it was quite upsetting to keep explaining all the problems. Dad then patched some of the better articles together from various sources, including SOFT's website, and here it is....some of the words are very long and medical but will hopefully give you a good idea of what we're up against...

Trisomy 13 ( Patau's ) Syndrome is a genetic disorder which occurs before birth. It affects approximately one in 10,000 live births. Listed are some of the anomalies that may occur.  Only a few may be present in any specific child.

Infants affected with Trisomy 13 tend to be small at birth.  Spells of interrupted breathing (apneoa) in early infancy are frequent, and mental retardation is usually severe.  Many affected children appear to be deaf.  A moderately small head (microcephaly) with sloping forehead, wide joints and openings between various bones of the head are present. Gross anatomic defects of the brain, especially failure of the forebrain to divide properly (holoprosencephaly) are common.  A hernial protrusion of the cord and its meninges through a defect in the vertebral canal (myelomeningocele) is found in almost 50% of cases.

The entire eye is usually small (microphthalmia), and a defect of the iris tissue (coloboma), and faulty development of the retina (retinal dysplasia) occur frequently.  The supraorbital ridges are shallow and palapebral fissures are usually slanted.  Cleft lip, cleft palate, or both are present in most cases.  The ears are abnormally shaped and unusually low-set.

A single transverse crease on the palm, extra fingers and toes (polydactyly) and hyperconvex, narrow fingernails are common.  The fingers tend to flexed, but not in the same manner seen in Trisomy 18 Syndrome.  
The feet show posterior prominence of the heel, and there may be a rocker-bottom foot. 

Tumors made up of newly formed capillary blood vessels (capillary hemangiomes) especially on the forehead in the midline, may also be present.  Other midline defects include dermal sinuses on the scalp and loose folds of skin over the back of the neck.

Approximately 80% of cases show the following additional congenital anomalies.

Ventricular Septal Defect - A hole between the lower chambers of the heart which prevents the heart from pumping blood correctly; a heart murmur is generally heard with this congenital defect.
Atrial Septal Defect - A hole between the two upper chambers of the heart which makes it difficult for the heart to pump sufficient oxygen-rich blood to the body's tissues; a heart murmur can be heard.
Patent Ductus Arteriosus - A congenital heart defect in which closure of  a duct fails to occur, resulting in abnormal direction of blood flow.
Dextrocardia - Location of the heart in the right side of the chest.

Trisomy 13 Abnormalities:

Common Disorders in Trisomy:  Beyond 1 month of age

Due to the severity of these conditions, fewer than 20% of those affected with Patau syndrome survive beyond infancy.

 ( Sources, amongst others, www.soft.org.uk, healthatoz, AOL keyword Health )