Home' Trinidad and Tobago Guardian : January 24th 2015 Contents | HEALTH |
January 24, 2016 www.guardian.co.tt Sunday Guardian
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By Dr Makini McGuire
I'M NOT ENGROSSED in the world of reality television and
I've never watched a single episode of any of TLC's 'little peo-
ple shows', but I know that publicising the lives of these peo-
ple has certainly made a huge impact on the way people of
unusually short stature are viewed. For some it has opened
their eyes to the daily difficulties, while others remain less
productive in their comments. Then, of course, there is al-
ways the question of how real is reality television.
In any case, it is worth learning some facts about the medi-
cine behind 'little people' or dwarfism. Before we begin, let
me first establish that there are several diseases called skele-
tal dysplasias that cause unusually short stature with vary-
ing genetic origins, physical manifestations and
complications. Some of these are not compatible with life,
and these babies are still born or die soon after birth,
whereas in other disease processes the patient lives a rea-
sonably long life. The latter would be who we are most famil-
iar with and what we will discuss today. This is a condition
known as achondroplasia.
The underlying problem is genetic. There is an abnormal gene
that causes abnormal growth and change of bone and carti-
lage. This, therefore, leads to a characteristic appearance in
which there is shortening of the long bones, that is, the arms
and legs, bowing of the legs, seemingly enlarged skull, small
face, flattening of the chest, protrusion of the abdomen, and
more. This condition affects males and females at the same
frequency and has no sex preference.
You may have already recognised that the complications that
can arise from a disease that affects your bone and cartilage,
the very structure of your body, are many. Infants and tod-
dlers usually take longer to reach their developmental mile-
stones, particularly those having to do with motor ability and
speech. For example, they take longer to develop head con-
trol, longer to sit by themselves and longer to walk. Speech
and pronunciation may be more difficult due to the dispro-
portion between the facial bones and size of the tongue.
Their intelligence, however, is usually within normal limits.
They tend to have recurrent ear infections and blockage of
their upper airway. Hearing loss can occur because of im-
paired bones in the inner ear or as a result of the repeated
ear infections. Dangerous neurological events can occur as a
result of compression of the spinal cord or other nerves from
abnormal bone and cartilage growth and abnormal curvature
of the spine. They also struggle with respiratory and cardio-
vascular compromise and the dangers of obesity on such a
short stature. Their mortality rate is generally higher than
that of the normal population.
There are also the daily struggles of just simply being too
short to function in places that do not accommodate for this
and no readily accessible way to obtain the tools that make
living an adult life at four feet easier. This is a grave problem
in developing countries. Hygiene is sometimes difficult as
well due to the short length of the arms. Apart from the
physical, the stigma and derogatory comments that are
pitched at little people from the society is unbecoming.
Pregnancy, birth and having a 'normal' child is always of con-
cern to patients. In general normally short women five feet
and under, with no abnormal bone growth, have problems
with vaginal deliveries because of the proportion of their
pelvis to the head of the foetus. They usually need to have
caesarean section, and the same applies to little women.
Caesarean section, of course, always comes with its own set
of possible complications. Characteristically, fertility, the abil-
ity to get pregnant, is decreased and the chance of having a
still born child increased. However, many still are able to have
children. The most common complication during pregnancy is
an excessive amount of amniotic fluid.
Whether you will have a 'normal' or affected child is largely a
matter of probability. Firstly, only some cases of achondropla-
sia are inherited, while others, the majority, are sporadic; this
means that unaffected parents can have an affected child
who just had a random, unexpected mutation in the gene.
Secondly, the probability of your child being affected through
inheritance changes depending on if one or both parents are
affected. Simplified, if only one parent is affected, there is a
50 per cent chance of having an unaffected child. If both par-
ents are affected, there is a 25 per cent chance of having an
unaffected child, a 50 per cent chance of having a living af-
fected child and a 25 per cent chance of having an affected
foetus that won't survive. Again, these are just probabilities,
based on inheritance patterns, no one can predict the future.
Prenatal diagnosis is possible and helps parents to educate
themselves and be prepared.
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