WestEnglish 8December 8, 2017NoonanSyndrome Noonan Syndrome is a disease in which people experiencemany problems and defects. To be specific this syndrome is late puberty. NoonanSyndrome can affect young and old and the symptoms depend on a person’sdiagnosis. 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 provento be effective. In Noonan Syndrome, short stature, heart defects, bleedingproblems, and late puberty is very common (Learning about Noonan Syndrome).
When thisdisease is inherited that means that one or both parents have this disorder orthey were both carriers. On a rare occasion, a child may have Noonan Syndromebut their parents are not even carriers for the disease. This means that thisperson 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 latepuberty, internal bleeding (a major symptom), short stature, sunken chest, awebbed neck, and sometimes hearing loss (A.D.
The symptom bleeding is very popular inNoonan Syndrome. It can happen in early stages, as well as late in life. Manypeople say that bleeding happens by chance, but it occurs way too often to betitled that (Tetchner).Another major symptom is late puberty or growth hormone defect. At the time of birth you would never know ifyour baby was abnormally short because on average most of the time a baby is ata normal height, but when he/she gets older, he will not grow as tall or strongas 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 themhave feeding difficulties.
Only fifteen percent have feeding problems plusvomiting to go along with it and thirty eight percent of children with NoonanSyndrome 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, butover time the weight of a child will balance out with their height, which isusually short. When these kids grow up and they start going to school it isproven that they will have difficulties.
A lot of parents that have kids withNoonan Syndrome say that their kids have trouble in speech and in math class.This may result in extra school sessions and tutoring classes (Citation forsource card D). Noonan Syndrome is a single gene disorder. A person thathas this disorder has a fifty percent chance that their kid will have it. Themother is more likely than the father, to pass Noonan Syndrome down to theirkids. Throughout the world, fourteen to seventy-five percent of people withNoonan Syndrome have parents with the same syndrome (Citation for source cardB).
If a human being inherited Noonan Syndrome that means that their parentshad defected genes. Only one parent has to have the defected gene and/or theother parent can also have the disorder or just be a carrier, which means itdoesn’t actually affect them personally (Citation for source card B). A person’s diagnosis can start imminently after birthwith heart failure. This is a key symptom to see if your child has NoonanSyndrome. If a child doesn’t have heart problems it may be harder to determineif they have Noonan Syndrome because they usually have a normal height and anaverage facial appearance, but it is still easiest to see symptoms of NoonanSyndrome in a child’s early years (Citation for source card D). There are very few treatments for this disorder but thereare a few that are tested and proven to help with some symptoms.
The treatmentsan individual might receive are totally based of their personal symptoms theyhave (Citation for source card A). For example, if you have delayed puberty youcan get an injection of medicine that may speed up the process a little. If youare short, you can get growth hormone therapy, but this therapy may lead tobrain injury or hip problems (Citation for source card C). Another example orinstance 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 surgeryand every thirty-one out of one hundred and fifty one people do get thissurgery (Citation for source card D). For delayed development behavior issues,a child may have speech therapy or special strategies and for hearing loss aperson might consider hearing aids (Citation for source card E). I know a person with this disorder, she is actually myyounger sister and her name is Ruthann Engelsma.
She is currently twelve yearsold and in sixth grade. It tooka very long time to figure out what Ruthann’s problem was because she did nothave the main symptom, heart defects. After many years of research, the doctorsfinally diagnosed Ruthann with Noonan Syndrome. She had/has many of thesymptoms a person might have. She has low set ears, droopy eyelids, andbleeding problems.
This disorder that Ruthann has was not inherited by my momor my dad, which means she is sporadic. When my sister was just born shesuffered from feeding trials. She ended up among the thirty eight percent tileof kids that have feeding tubes. She had these tubes with an Ivey pole, forfour years.
Ruthann would never be where she is today if my parents after themany struggles and hard decisions, had never forced her to eat. For some oddreason Ruthann was so scared to put a piece of food in her mouth. She wouldthrow temper tantrums and cry for hours on end. Ruthann is now in sixth gradeand she no longer has feeding tubes.
She eats five small meals in a day and acouple snacks here and there. The reason for that is because she has a veryslow digestive system. She eats this many meals in a day because she has growthhormone defects which means that she has a two third delay of empting herstomach vs. a healthy person where they take six to eight hours to digest(Citation from source card F).
NoonanSyndrome is not a very common disorder but that does not mean that it is not aserious one. There are a lot of trials and difficulties involved when a personhas Noonan Syndrome, and there are not many treatments yet to cure it, but aperson should never forget that the greatest medicine that could help them isGod. He can help anyone through any trial if it is his will.