December 8, 2017
Noonan Syndrome is a disease in which people experience
many problems and defects. To be specific this syndrome is late puberty. Noonan
Syndrome can affect young and old and the symptoms depend on a person’s
diagnosis. Almost one hundred percent of the time this disorder is inherited.
As of right now, it does not have a cure, but some treatments have been proven
to be effective.
In Noonan Syndrome, short stature, heart defects, bleeding
problems, and late puberty is very common (Learning about Noonan Syndrome). When this
disease is inherited that means that one or both parents have this disorder or
they were both carriers. On a rare occasion, a child may have Noonan Syndrome
but their parents are not even carriers for the disease. This means that this
person is sporadic (Tetchner).
When a baby is born with Noonan Syndrome, their hair is normally wispy or wavy;
they have diamond shaped eyebrows, pale blue or green eyes, and low set ears (Suzanne).
An individual with Noonan Syndrome may experience late
puberty, internal bleeding (a major symptom), short stature, sunken chest, a
webbed neck, and sometimes hearing loss (A.D.A.M.). The symptom bleeding is very popular in
Noonan Syndrome. It can happen in early stages, as well as late in life. Many
people say that bleeding happens by chance, but it occurs way too often to be
titled that (Tetchner).
Another major symptom is late puberty or growth hormone defect. At the time of birth you would never know if
your baby was abnormally short because on average most of the time a baby is at
a normal height, but when he/she gets older, he will not grow as tall or strong
as other people his/her age because they have growth hormone defect problems.
Babies may be normal height when they are born, but twenty five percent of them
have feeding difficulties. Only fifteen percent have feeding problems plus
vomiting to go along with it and thirty eight percent of children with Noonan
Syndrome have very severe feeding trials, and that may lead to feeding tubes
(Citation for source card E). At birth, the weight of a baby is also normal, but
over time the weight of a child will balance out with their height, which is
usually short. When these kids grow up and they start going to school it is
proven that they will have difficulties. A lot of parents that have kids with
Noonan Syndrome say that their kids have trouble in speech and in math class.
This may result in extra school sessions and tutoring classes (Citation for
source card D).
Noonan Syndrome is a single gene disorder. A person that
has this disorder has a fifty percent chance that their kid will have it. The
mother is more likely than the father, to pass Noonan Syndrome down to their
kids. Throughout the world, fourteen to seventy-five percent of people with
Noonan Syndrome have parents with the same syndrome (Citation for source card
B). If a human being inherited Noonan Syndrome that means that their parents
had defected genes. Only one parent has to have the defected gene and/or the
other parent can also have the disorder or just be a carrier, which means it
doesn’t actually affect them personally (Citation for source card B).
A person’s diagnosis can start imminently after birth
with heart failure. This is a key symptom to see if your child has Noonan
Syndrome. If a child doesn’t have heart problems it may be harder to determine
if they have Noonan Syndrome because they usually have a normal height and an
average facial appearance, but it is still easiest to see symptoms of Noonan
Syndrome in a child’s early years (Citation for source card D).
There are very few treatments for this disorder but there
are a few that are tested and proven to help with some symptoms. The treatments
an individual might receive are totally based of their personal symptoms they
have (Citation for source card A). For example, if you have delayed puberty you
can get an injection of medicine that may speed up the process a little. If you
are short, you can get growth hormone therapy, but this therapy may lead to
brain injury or hip problems (Citation for source card C). Another example or
instance is heart problems. TO help this symptom you could get heart surgery.
Even if a person is only one year old he/she can still get this heart surgery
and every thirty-one out of one hundred and fifty one people do get this
surgery (Citation for source card D). For delayed development behavior issues,
a child may have speech therapy or special strategies and for hearing loss a
person might consider hearing aids (Citation for source card E).
I know a person with this disorder, she is actually my
younger sister and her name is Ruthann Engelsma. She is currently twelve years
old and in sixth grade.
a very long time to figure out what Ruthann’s problem was because she did not
have the main symptom, heart defects. After many years of research, the doctors
finally diagnosed Ruthann with Noonan Syndrome. She had/has many of the
symptoms a person might have. She has low set ears, droopy eyelids, and
bleeding problems. This disorder that Ruthann has was not inherited by my mom
or my dad, which means she is sporadic. When my sister was just born she
suffered from feeding trials. She ended up among the thirty eight percent tile
of kids that have feeding tubes. She had these tubes with an Ivey pole, for
four years. Ruthann would never be where she is today if my parents after the
many struggles and hard decisions, had never forced her to eat. For some odd
reason Ruthann was so scared to put a piece of food in her mouth. She would
throw temper tantrums and cry for hours on end. Ruthann is now in sixth grade
and she no longer has feeding tubes. She eats five small meals in a day and a
couple snacks here and there. The reason for that is because she has a very
slow digestive system. She eats this many meals in a day because she has growth
hormone defects which means that she has a two third delay of empting her
stomach vs. a healthy person where they take six to eight hours to digest
(Citation from source card F).
Syndrome is not a very common disorder but that does not mean that it is not a
serious one. There are a lot of trials and difficulties involved when a person
has Noonan Syndrome, and there are not many treatments yet to cure it, but a
person should never forget that the greatest medicine that could help them is
God. He can help anyone through any trial if it is his will.