Monday, October 26, 2009

What We're Looking At:

Cytomegalovirus (CMV)

"Pregnant women CMV causes brain damage in the human foetus, particularly in the earlier stages of pregnancy when internal organs are forming. If a baby in utero is exposed to the virus via the infected mother, they can suffer from hearing loss and mental retardation. Some babies stop growing as quickly as they should and experience developmental problems in affected organs, such as the liver. There is no risk if a baby catches CMV after being born."

Thankfully - This has now been ruled out, I show no signs of EVER having been infected which means its impossible for this to be what is wrong with Bean. Thankyou God!


Toxoplasmosis

"Babies exposed to toxoplasma before birth can have damage to their brain, ears, eyes and liver. Signs of damage may be present before birth (eg changes may be seen on ultrasound testing), or at birth, but they also may only become obvious later when the child is found to have hearing loss, vision problems or developmental problems. Toxoplasmosis can also cause miscarriage. "

This virus has also been ruled out as the cause of Bean's aneamia. I have also never been exposed to this, so once again, it is impossible for Bean to be suffering with it.

Parvovirus B19 -

Resulting in - Hydrops fetalis
Parvovirus infection in pregnant women is associated with
hydrops fetalis due to severe fetal anemia, sometimes leading to miscarriage or stillbirth.[13] The risk of fetal loss is about 10% if infection occurs before pregnancy week 20 (esp. between weeks 14-20), but minimal after then. Routine screening of the antenatal sample would enable the pregnant mother to determine the risk of infection. Knowledge of her status would allow the mother to avoid the risk of infection.The risk to the fetus will be reduced with correct diagnosis of the anemia (by ultrasound scans) and treatment (by blood transfusions). There is no evidence to suggest that Parvovirus B19 leads to developmental abnormalities in childhood.

THIS IS WHAT WE'RE PRAYING IS WRONG WITH BEAN! A relatively minor illness, with no associated birth defects. A blood transfusion would assist bean to get over this virus, but might not even be required in this case. Please God let this be the problem. We will not get the test results back for this until 4pm today, and the waiting is killing me.


The more serious, and complicated causes we could also be looking at with Bean are:

Trisomy 13

"Trisomy 13, also called Patau syndrome, is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body. Individuals with trisomy 13 often have heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes (microphthalmia), extra fingers and/or toes, an opening in the lip (a cleft lip) with or without an opening in the roof of the mouth (a cleft palate), and weak muscle tone (hypotonia). Due to the presence of several life-threatening medical problems, many infants with trisomy 13 die within their first days or weeks of life. Only five percent to 10 percent of children with this condition live past their first year"

We've been told if it is this - we should terminate. We won't. But that's the advice we've been given.


Trisomy 18 (Also known as Edwards Syndrome)

Infants born with Edwards syndrome may have some or all of the following characteristics: kidney malformations, structural heart defects at birth (i.e., ventricular septal defect, atrial septal defect, patent ductus arteriosus), intestines protruding outside the body (omphalocele), esophageal atresia, mental retardation, developmental delays, growth deficiency, feeding difficulties, breathing difficulties, and arthrogryposis (a muscle disorder that causes multiple joint contractures at birth).[8][9]
Some physical malformations associated with Edwards syndrome include: a small head (microcephaly) accompanied by a prominent back portion of the head (occiput), low-set, malformed ears, abnormally small jaw (micrognathia), cleft lip/cleft palate, upturned nose, narrow eyelid folds (palpebral fissures), widely-spaced eyes (ocular hypertelorism), drooping of the upper eyelids (ptosis), a short breast bone, clenched hands, underdeveloped thumbs and or nails, absent radius, webbing of the second and third toes, clubfoot or Rocker bottom feet, and undescended testicles in males.[8][9]
In utero, the most common characteristic is cardiac anomalies, followed by central nervous system anomalies such as head shape abnormalities. The most common intracranial anomaly is the presence of choroid plexus cysts, which is a pocket of fluid on the brain that is not problematic in itself but may be a marker for Trisomy 18.[10][11] Sometimes excess amniotic fluid or polyhydramnios is exhibited.[8]


Again, if this is the diagnosis, so far, each and every doctor, has advised we terminate the pregnancy. Again, not an option, but the recommendation.


Down Syndrome


Down syndrome is set of mental and physical symptoms that result from having an extra copy of chromosome 21. Even though people with Down syndrome may have some physical and mental features in common, symptoms of Down syndrome can range from mild to severe. Usually, mental development and physical development are slower in people with Down syndrome than in those without it.
People with the syndrome may also have other health problems. They may be born with heart disease. They may have dementia. They may have hearing problems and problems with the intestines, eyes, thyroid and skeleton.
The chance of having a baby with Down syndrome increases as a woman gets older. Down syndrome cannot be cured. However, many people with Down syndrome live productive lives well into adulthood.


I have nothing really to say about this. Its a permanent, often disastrous condition and it breaks my heart to think that this might be what is wrong with our bean.

Keep praying for Parvovirus - its the only thing i think i can handle right now.

5 comments:

Trisomy 13 - Patau Syndrome Support said...

Never loose HOPE that you will meet your precious child. Whatever the outcome with early testing...
There is MUCH support for prenatal moms now on the net, so you know you are not along. With courage and grace you can create your own beautiful moments with your precious child.

Be sure to visit a local site near you created by an Australian Family. She also has an online book:
Not Compatible with Life: a diary of keeping Daniel,
you can view this FREE online.
http://www.livingwithtrisomy13.org/MemoriesofDanielS.htm
Also Prenatal Partners for Life
http://www.prenatalpartnersforlife.org/

You will be in our prayers,
ThereseAnn, mom to Natalia
http://www.livingwithtrisomy13.org

jude wolpert said...

my daughter is 12 years old with full trisomy 18. she is a joy, we were told to terminate and i just couldnt do it. please feel free to email me at jfwolpert@gmail.com if i can answer any questions.

Anonymous said...

You will be okay. I have worked with people with disabilities for over 15 years. I do not see them any different than any other person I deal with on a regular basis. Wonderful, caring, funny, mean, sarcastic, evil, cunning, selfish, generous, forgiving, grateful, jealous, angry, happy,sad, depressed,controlling, ocd, manic, loving, gentle, full of love, full of kindness,. Nothing I see in my regular friends is anything different than I see in a person with a disability. Sometimes the only difference I notice is the family life they have come from, the ones that have family that love them, and treat them with respect and love are different, some families don't even seem to notice that their child has a disability. And I am not talking about small disabilities here, they don't see them and we don't. These are people and people I have chosen to spend a lot of my life with. One of my favorite people in the whole world has Downs Syndrome, I love him to death. One step away from my child. How lucky am I to have him in my life? Very.

Ali said...

I just found your blog off of another site about fetal hydrops and within reading 2 posts i have found more info that makes sense then i have seen all day after searching. thank you for documenting everything! i just found out my baby has fetal hydrops (20 weeks) and am searching high and low for answers. although i am two posts in and know your conclusion is not a happy one, i thank you for putting it out there for me to learn from.

Tam said...

Ali - Please Please Please contact me at tam@ nearlynotquite.com - I have more information for you, and a support group i'd like to invite you to join on facebook.