A bit of info on Freddies problems

Published April 16, 2012 by swanfreddie

I talk alot about Freddies problems & always just assume people know what they mean. But for those who don’t I have written abit about them below –

Low set ears 

Low-set ears is a term used to describe a depressed positioning of the pinna two or more standard deviations below the population average.
It can be associated with conditions such as Downs syndrome, Turner syndrome, Noonan syndrome, Patau syndrome, DiGeorge syndrome, Edwards syndrome.

Failure to thrive
Failure to thrive refers to children whose current weight or rate of weight gain is significantly lower than that of other children of similar age and gender. Freddies gastro tube helps him to continue to gain weight as without it he wouldn’t take enough food to grow.

Milk protein intolerance
A milk protein intolerance is delayed reaction to a food protein that is normally harmless to the non-allergic, non-intolerant individual. Milk protein intolerance produces a non-IgE antibody and is not detected by allergy blood tests. Milk protein intolerance produces a range of symptoms very similar to milk allergy symptoms, but can also include blood and/or mucus in the stool.

Reflux is what happens when your baby’s stomach contents come back up into his food pipe (gullet or oesophagus) or even into his mouth. The long name for reflux is gastro-oesophageal reflux disease. Babies get reflux because the muscular valve at the end of the food pipe, which acts to keep food in the tummy, hasn’t developed properly yet. This means that when your baby’s tummy is full, food and acid can come back up. This can cause him to bring up small amounts of milk (possetting) or even vomit.

Atrial heart defect
An atrial septal defect is sometimes referred to as a hole in the heart & is a type of congenital heart defect in which there is an abnormal opening in the dividing wall between the upper filling chambers of the heart (the atria).

Stridor is a term used to describe noisy breathing in general and to refer specifically to a high-pitched crowing sound associated with croup, respiratory infection, and airway obstruction.

Tracheal tug
A tracheal tug is a downward pull of the trachea, manifested by a downward movement of the thyroid cartilage.

Retro position epiglottis 
A retro positioned epiglottis means part of the voice box if in the wrong place

Micrognathia is a term that describes an abnormally small lower jaw.

Microcephaly is a neurodevelopmental disorder  in which the circumference of the head is more than two standard deviations smaller than average for the person’s age and sex. Microcephaly may be congenital or it may develop in the first few years of life. In general, life expectancy for individuals with microcephaly is reduced and the prognosis for normal brain function is poor. The prognosis varies depending on the presence of associated abnormalities.

High arched palette
This is a condition where the roof of the mouth is higher in the mouth than normal.

Adducted thumb
Freddies is unable to move one of his thumbs. He holds it across the palm of his hand & it can’t be opened properly.

With astigmatism, the cornea (the clear tissue covering the front of the eye) is abnormally curved, causing vision to be out of focus.

Trigonocephaly/metopic suture
Trigonocephaly is a congenital condition of premature fusion of the metopic suture leading to a triangular shaped forehead. The merging of the two frontal bones leads to transverse growth restriction and parallel growth expansion. It may occur syndromic involving other abnormalities or isolated.The metopic suture begins at the nose and continues superiorly to meet the sagittal suture. Metopic craniosynostosis results in a narrow, triangular forehead with pinching of the temples laterally. Treatment involves releasing the suture and expanding and rounding out the upper face, forehead and skull.

Plagiocephaly(flat head syndrome) is a condition characterized by an asymmetrical distortion (flattening of one side) of the skull.

Myoclonic Epilepsy
The word myoclonic comes from ‘myo’ meaning muscle, and ‘clonus’ meaning jerk. So in a myoclonic seizure your muscles jerk. Myoclonic seizures can sometimes cause your whole body to jerk. More usually, they only cause jerking in one or both arms and sometimes your head. Although it may not be obvious, during the seizure, you are unconscious for a very brief time.

Myoclonic seizures are similar to the jerks that some people have when falling asleep. These jerks when falling asleep are not epilepsy.


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