Genetic Counseling

Our Daughter was diagnosed with the chromosomal disorder, Patau Syndrome. This happens
when the 13th chromosome is a trisomy, which means there are three chromosomes instead of 2.
This occurs because the homologous pairs failed to separate in PMAT 1. Individuals affected by
Patau can have an abnormally small head, a birth defect in which intestinal organs appear outside
of body, cleft palate, or low birth weight ("Trisomy 13: MedlinePlus Medical Encyclopedia.").
According to the same article, Patau syndrome is extremely dangerous with a low chance of
survival, meaning more that 90% of children die in their first year. It is very unlikely that our
child will even live to be a toddler, even in the slim chance she lives her life will be riddled with
obstacles due to severe mental and physical handicaps. In the case that she lives to be of
reproductive age, she might be able to have children depending on the damages and progression
of her disease. This disease is not passed down by inheritance, it occurs during fertilization so
future generations would not be at risk. Aside from her Patau syndrome, her family has a history
of Marfan Syndrome. People with Marfan syndrome are tall and thin with long arms, legs,
fingers, and toes. It is a connective tissue disorder that can cause back pain and heart murmurs.
The spinal cord, eyes, heart, and lungs run a high risk of being affected by Marfan syndrome
(Marfan Syndrome). However she has no chance of having Marfan syndrome according to her
pedigree. We created a series of punnett squares to determine her blood type. We had to create 2
because the fathers blood type of A gave two possibilities IA IA or IAi. Her blood type
possibilities for option 1 are homozygous type A or type Ab, and for option 2 her possibilities are
homozygous type A, heterozygous type A, homozygous type B, or type AB.

Option 1
Ratio: 1:1 IA IA: IA IB

Option 2
Ratio: 1:1:1:1 IA IA: IA IB: IA i: IB i

Disease Diagnosis

Our child was diagnosed with the infection Aspergillus. We ordered a flu test for influenza b, a
chest X-ray for Cryptococcus gattii, a mucus sample for Cryptococcus gattii, and an imaging test
for Aspergillosis. When diagnosing her infection we had difficulty distinguishing her symptoms
from cryptococcus gattii and the flu. Her symptoms of runny/stuffy nose and cough were vague
however once we connected that to her history of asthma we were able to link them to
Aspergillus. This is a fungal infection with symptoms of a cough, wheezing, brown mucus, and
worsened asthma. Initially, her symptoms of coughing, wheezing, and mucus would likely
worsen. In addition, her body would have an allergic reaction to the fungus causing lung
inflammation. During the progression of Aspergillus the damage and inflammation to her
airways could spread to her lungs, kidneys, and even heart. In severe cases bronchiectasis could
develop, a condition in which extreme mucus buildup blocks the airway and produces a higher
risk for more infection. If her Aspergillus went untreated long enough for all of this damage to be
done, it would likely progress to invasive ABPA (Allergic bronchopulmonary aspergillosis),
which at that point could be fatal ("Aspergillosis Treatment, Symptoms & More | Cleveland
Clinic.").

Treatment
Our baby can be treated by immunosuppressive drugs such as prednisone, but also antifungal
treatment can improve her life significantly ("Aspergillosis Treatment & Management.").
According to the same article, Itraconazole, which is a prescription antifungal medication, is
recommended along with steroids. There is currently not a vaccine to treat this infection,
however the antifungal medication will work just as well. With the correct medication it is likely
that she will get better.

(You Are Here

DNR Wildlife & Habitat

Wildlife Disease Michigan Wildlife Disease Manual.")

Assistive Home Plan for the Generic Disorder and Baby Care

Individuals with Patau Syndrome have severe intellectual disability and mental retardation
("Trisomy 13."). According to the same article, they also have a severe motor disorder, meaning
they don't have very good coordination. In the same article it states that they have countless
physical disabilities including a small head, extra toes or fingers, underdeveloped or combined
eyes, possibly a missing eye, underdeveloped retina in the eye, and underdeveloped feet. In the
same article it says that many of their organs are deformed, and may have problems functioning
properly. Later the same article states they might have a deformed spine and back problems,
missing hair, and a cleft palate or lip.
The medical assistants people need really depends on the person with the disorder, because each
case is different ("Patau's Syndrome (Trisomy 13) Information and Prognosis | Patient.").
According to the same article, a back bbrace might be needed, and surgery may be necessary to
fix heart problems and cleft palates right after birth. In the same article it says that physical,
occupational, and speech therapy can help people with Patau Syndrome. Later the same article
states that however, the survival rate for infants born with Patau Syndrome is 5%, and many
don't survive long enough to receive treatment because the effects of this disease are so life
threatening.
Our house will be one-story. Our floors will be covered in carpet and there will not be any hardwood floors because our baby is very fragile and can't travel upstairs safely ("About The Trisomy
13 and Trisomy 18 Syndromes."). According to the same article our house will need to contain a
nasogastric tube and gavage because our baby is unable to breast and bottle feed effectively. The
same article states that our house must contain a pulse oximeter to monitor our baby's breathing.
Medical options consist of feeding assistance, mental stimulation, and surgery ("Trisomy 13
Prevention and Treatment."). In the same article it is stated that feeding assistance is needed
because swallowing is a difficulty. However some babies can be fed orally. For those who can't
swallow, being fed through tubes is an option. According to the same article motor and mental
deficiencies are seen due to lack of mental stimulation. Increasing their stimulation and
interaction can increase their mental potential. The articles also states that surgery can also
correct and or improve certain deficiencies such as cleft lip and other problems.

Irritants and Allergens

An allergy is caused by an overreaction of the immune system to a foreign substance or protein
called an allergen. Your body recognizes this allergen as an invader and releases antibodies, cells
that are specialized to kill these invaders, to attack. This can result in any number of symptoms
from coughing and wheezing to severe rashes and difficulty breathing. Since our child has

asthma any reaction would be worsened and she has a higher chance of being affected by more
allergens. According to the National Institute of Environmental Health Sciences, the most
common allergens in the home include dust mites, cigarette smoke, pollen, pets, and
cockroaches. The NIEHS identifies cigarette smoke as one of the most common irritants as well.
The smoke enters the lungs and respiratory system, there it erodes the lung tissue and damages
its structure. This is worsened in asthma patients due to their already fragile respiratory system.
Dust allergens found in pollen, cockroaches, pets, and dust mites, are usually small particles that
get blown around easily. These allergens enter your system and cause sneezing, coughing,
itching, and watery eyes. Any of these allergens can also cause anaphylaxis, an extreme allergic
reaction resulting in a closed airway and death, if our child is extremely allergic. However, most
of these allergens wont be a problem for our child. For example, our child won't be exposed to
cigarette smoke in the home or out of the home because neither of the parents smoke. We are
aware that our childs safety is the top priority, so in order to reduce dust allergens we will
remove any carpets, keep pets out of the bedrooms and couches, frequently wash all sheets and
linens, and filter our air conditioning units regularly(Dust Allergy). We will most likely visit an
allergist to understand any allergies possible. If further action needs to be taken on request of the
allergist
we will be
happy to
comply.

("Nurses

Notes:
RHINITIS.")

Carcinogens and Mutagens

In addition to allergens and irritants, we must be aware of carcinogens and mutagens.
Carcinogens include any agent that causes cancer or that has cancer causing effects. Carcinogens
do not directly change the DNA sequence, instead they can speed up the rate of division causing
tumors and growths. According to the American Cancer society many common carcinogens
include tobacco and alcohol use, ultraviolet radiation, infectious gases, and nutrition("Known
and Probable Human Carcinogens."). However many of these sources are avoidable like alcohol

and tobacco use, infectious gases, and radiation. We will create a nutritious diet without additives
or fungal products. Additionally, if we take our child into the sun she will be covered and we will
apply plenty of sunblock. Mutagens are any substances that change the a persons DNA and can
cause cancers or certain diseases. The National Center for Biotechnology Information has shown
that almost 90 percent of carcinogens are also mutagens, so staying away from sun radiation and
poor nutrition is key. Another known source of carcinogens and mutagens as shown in the above
article are cleaning supplies. To reduce exposure to these harmful substances we wont use
cleaning supplies that have harsh chemicals, as an alternative we can use vinegar, baking soda,
and unscented soap. There are many sources of irritants, allergens, carcinogens, and mutagens
that we must address to keep our baby safe, however we have a plan to avoid them.

Vaccination Myths

A vaccination is made up of dead or weak pieces of an infection, when injected your immune
system is supposed to create antibodies in order to kill off any future infection caused by that
pathogen. To many parents vaccines seem scary, there are many myths that vaccines are unsafe
and actually harm the child. One of the main myths is that vaccines cause autism, a mental
disability caused by developmental issues in the brain also abbreviated ASD. The Center for
Disease Control conducted a study on this issue and these were their conclusions, Some people
have had concerns that ASD might be linked to the vaccines children receive, but studies have
shown that there is no link between receiving vaccines and developing ASD. In 2011, an Institute
of Medicine (IOM) report on eight vaccines given to children and adults found that with rare
exceptions, these vaccines are very safe. Another myth is that mercury based vaccines or
thimerosal vaccines are more likely to cause autism than regular vaccines. Again I looked at the
Center for Disease Controls studies and they found, Research shows that thimerosal does not
cause ASD. In fact, a 2004 scientific review by the IOM concluded that "the evidence favors

rejection of a causal relationship between thimerosalcontaining vaccines and autism." Since

2003, there have been nine CDC-funded or conducted studies that have found no link between
thimerosal-containing vaccines and ASD. The CDC found that vaccines do not cause autism nor
do mercury based vaccines cause autism("Vaccines Do Not Cause Autism."). However, I wanted
to be sure of these results so I found research by Oxford Journals Clinical Infectious Diseases.
They concluded, Twenty epidemiologic studies have shown that neither thimerosal or MMR
vaccine causes autism. These studies have been performed in several countries by many different
investigators who have employed a multitude of epidemiologic and statistical methods...have
effectively dismissed the notion that vaccines cause autism From this research it is safe to say
that vaccines do not cause autism("Clinical Infectious Diseases.").

Soy and Early Puberty Myth

The last myth that frightens new parents is that soy product found in baby formula cause early
puberty. Soy contain isoflavones, a compound that mimics the ability of the estrogen hormone, in
extra amounts the isoflavones supposedly create more estrogen leading to an early puberty(Soy
Infant Formula). According to the National Institute of Environmental Health Sciences,
Animal studies indicate that health effects of possible concern include early onset of puberty in
females and alterations in development of breast tissue. The NIEHS conducted several studies
to gather these results and eventfully gathered that soy can cause early puberty. The main basis
for their discovery was that infants in developing stages are susceptible to estrogen early in life
through formula, this estrogen creates a faster and earlier puber(Soy Infant Formula).

ty.

("Chromosomal Abnormalities.")

("Sndrome De Patau Ou Ciclope Da Mitologia Grega?")

Works Cited
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"Aspergillosis: MedlinePlus Medical Encyclopedia." U.S National Library of Medicine. U.S.
National Library of Medicine, n.d. Web. 19 May 2016.
"Aspergillosis Treatment & Management." Aspergillosis Treatment & Management: Medical
Care, Surgical Care, Consultations. Web. 14 May 2016.
"Aspergillosis Treatment, Symptoms & More | Cleveland Clinic." Aspergillosis Treatment,
Symptoms & More | Cleveland Clinic. N.p., n.d. Web. 16 May 2016.
"Chromosomal Abnormalities."Chromosomal Abnormalities. Web. 14 May 2016.
"Clinical Infectious Diseases." Vaccines and Autism: A Tale of Shifting Hypotheses. Web. 15
May 2016.
"Dust Allergy." ACAAI. Web. 15 May 2016.
Griffiths, Anthony JF. Relation between Mutagens and Carcinogens. U.S. National Library
of Medicine. Web. 15 May 2016.
"Known and Probable Human Carcinogens." Known and Probable Human Carcinogens.
Web. 21 May 2016.
"Marfan Syndrome." Genetics Home Reference. Web. 15 Apr. 2016.
"Nurses Notes: RHINITIS." Nurses Notes: RHINITIS. Web. 21 May 2016.
"Patau's Syndrome (Trisomy 13) Information and Prognosis | Patient." Patient. Web. 14 May
2016.
"Sndrome De Patau Ou Ciclope Da Mitologia Grega?"Rocknforum.ativoforum.com. Web. 14
May 2016.

"Soy Infant Formula." Soy Infant Formula. N.p., n.d. Web. 16 May 2016.
"Trisomy 13: MedlinePlus Medical Encyclopedia.." Genetics Home Reference. Web. 14 May
2016.
"Trisomy 13 Prevention and Treatment." Wellness.com. 14 June 2014. Web. 16 May 2016.
"Vaccines Do Not Cause Autism." Centers for Disease Control and Prevention. Centers for
Disease Control and Prevention, 23 Nov. 2015. Web. 15 May 2016.
You Are Here DNR Wildlife & Habitat Wildlife Disease Michigan Wildlife Disease Manual."
DNR. Web. 14 May 2016.
"About The Trisomy 13 and Trisomy 18 Syndromes." International Trisomy 13/18 Alliance.
Web. 16 May 2016.

"Vaccines Do Not Cause Autism." Centers for Disease Control and Prevention. Centers for
Disease Control and Prevention, 23 Nov. 2015. Web. 15 May 2016.
"Soy Infant Formula." Soy Infant Formula. N.p., n.d. Web. 16 May 2016.
"Clinical Infectious Diseases." Vaccines and Autism: A Tale of Shifting Hypotheses. Web.
15 May 2016.