Transcript Report for Stewie Griffin

Report for
Stewie Griffin
By….Doctors Senor Colin, Senor
David , Senorita Deanna, and
Senor Matt
Disease
The disease that we believe Stewie Griffin
has been diagnosed with is Tay-sachs.
This disease is due to mutations in the
HEXA gene.
There are two types of Tay-sachs, one is
where you get it when your born the other
one is where you get it after you go
through puberty.
Disease continued…
It’s a genetic defect that is caused in one
of the genes. Its inherited from his parents.
Since he has got Tay-sachs that means
both his parents has it in their genes. If
only one parent has it, his or her child will
get it in their genes but wont get Tay-sachs
they will just pass it down to their kids
through their genes.
Disease continued…
It causes mental and physical
deterioration.
This disease starts in the nerve cells in the
brain.
You might see red in the eyes.
It usually occurs in the first 6 months.
Don’t be alarmed, there's a chance of a
result of death by the age of 4-5.
Symptoms
Stewie has been having trouble seeing. Some
symptoms of tay-sachs is having red dots in your
eyes. You may notice him not being able to
focus on things. He will be very twitchy.
Also symptoms are excessive startled by loud
noises. We took a reflex test and he came out
positive for being startled by loud noises.
You may see an abnormal head size and by
looking at the picture on file, his head looks a
little abnormal.
Symptoms continued…
Stewie has trouble hearing and a loss of motor
skills witch is a symptom of tay-sachs. It can be
a cause of becoming deaf.
His nervous system wont be working correctly. It
will enable him to roll over, grab, crawling, smile
and reach your arm out. With Tay-sachs he will
have trouble breathing and swallowing.
You will start seeing the symptoms around 3-6
months.
When you get to 10 months its most likely that
he wont be able to move at all.
Lab Testing
We have done some lab testing on Stewie.
We checked his blood sugar levels because he
had a high blood pressure that ran in the family.
The results came beck negative.
We have done a reflex test and it came out
positive that Stewie is startled by noises.
Lab Testing continued…
We also done a C.A.T scan and we found some
abnormalities in neurological structure. Parts of
his brain are deforming.
We had a Genetic Screening done for an extra
chromosomes. It came out negative, we thought
he had downs syndrome but Stewie doesn’t.
They found mutations in hex A gene.
The last test we did was Hex A Activity, results
came back as its highly likely that he has TaySachs.
Parts this Disease is Affecting
This disease is damaging the nervous
system and the brain. Its caused build up
by fatty compounds. The first sign of Taysachs is a red cherry dot in the eyes. That
makes them lose many abilities, such as
being able to see, hear, paralyzed and not
aware of what's going around him. Also
they may become mentally retarded.
Parts of the Disease its Affecting
He might start having a hard time
breathing, swallowing and seizures. At
around 6 months, witch is how old he is
now, he will start not being able to smile,
reach out, grab onto stuff, crawling and
turn over. The back of their eye may get a
red cherry dot. The nervous system is
getting very weak, and can’t do everyday
activities.
Treatment
We are very sorry to tell you that there is
no cure for Tay-sachs. The lifespan of
children with Tay-sachs is rarely over 4-5
years old. Sadly this disease doesn’t get
better with time, it gets worse quickly.
Pictures of other Kids with Tay-sachs