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These and other
health problems such as neurologic and respiratory problems,
common orthopedic problems like a reverse curvature (kyphosis) of
the lower spine in infancy and bowed legs, occasional experience of
fatigue, numbness, or pain in the lower back and thighs
(due to muscle pain or neurological problems) are seen quite often
in children and adults. They do have an extra share of growth
problems and require more attention and love.
Causes of
achondroplasia
Research has shown that mutations (chemical changes) within a single
gene cause achondroplasia. This condition can be passed from one
generation to the next or it may result from a new mutation in a
gene from average-sized parents. Nine out of ten children born with
achondroplasia have average-sized parents, and none of the other
family members are affected. In 1994, Dr. John Wasmuth
and his colleagues discovered that a mutation of the
fibroblast growth factor receptor-3 (FGFR3) gene on human chromosome
4 is what causes achondroplasia. Although the exact
cause-effect relationship is not yet known, research is still being
done in this area.
Two average-statured
parents have little or no chance of having more than one child with
achondroplasia. However, an accurate and very specific diagnosis
needs to be made to establish that the short-statured child actually
has achondroplasia. The tendency in the past was to diagnose
everyone of short stature as having achondroplasia when, in fact,
these people were affected with dwarfism due to other reasons.
Before accurate counseling can be provided, the diagnosis
must be known.
The
Inheritance risks involved
It has been proven that a
couple with one achondroplastic spouse and one average-statured
spouse has a 50% chance (one out of two) of having a child with
achondroplasia and a 50% chance of having an average-statured child.
If a child does not inherit an altered copy of the gene for
achondroplasia, growth during childhood and adult height is expected
to be within the normal range.
Average-sized
children of parents with achondroplasia are not at increased risk
for passing on the condition to the next generation. If both parents
have achondroplasia, there is a 25% chance (one out of four) of
their child inheriting two altered copies of the gene that leads to
achondroplasia -- one from each parent. These children are said to
have homozygous achondroplasia, or
"double-dominant" achondroplasia. This condition tends to
be lethal in the first year of life. Parents need to consult doctors
for more information on the possible outcomes.
Treatment
Till date, there is no specific treatment to promote growth in achondroplasia. Growth-hormone treatment seems to increase the rate
of growth during the first year of treatment, but cannot guarantee
to increase adult height. Surgery to lengthen the legs and arms of
people with achondroplasia is being done on an experimental basis in
a few centers in the US, but it is not a very common practice since
complications are frequent.
Current therapy is
directed toward preventing or treating complications of
achondroplasia. The family physician, pediatrician, or internist,
with the help of specialists such as endocrinologists, geneticists,
orthopedists, and neurologists, can provide affected individuals
with appropriate medical and psychological support. These
individual deserve love and attention just like everyone else. It is
important for children with achondroplasia are made to recognize
that they too can make their dreams a reality, and although their
condition may prove to be challenging, they can lead a complete and
satisfying life.
It is
important that these children and adults (along with the rest of
society) are taught to "Think Big" (the motto of the Little People
of America). |
