Monday, August 17, 2009

The twin

Now is the time to say this started out as a twin pregnancy. There was a fetal pole and then there wasn't on the twin. There were two sacs. I was concerned but the Dr told me the other sac would usually be reabsorbed into my body an the rest of the pregancy would go on normally.

But this is me we are talking about..... that would have been too normal.

Expecting everything to be alright I went on vacation to Portugal thinking it would be the last in a long time. I was about 3 months pregnant but I looked bigger, like I was carrying twins. Portugal was great, I walked a lot and was fine.

I flew back into Houston and drove to San Antonio on a Sunday.

The Spurs were playing at the Alamo dome and I often went to games. A few days after returning from Portugal I went to a game. I was wearing my new cream colored maternity capri's and a long white shirt. It's always a long way from the parking to the front of the dome. Everything was fine unitl I got to the outside area in front of the Alamo dome. All of a sudden I felt something warm go down my legs. I asked my companion to walk away from me and turn around to see if I had anything red looking on my pants as discreetly as possible. It was more like a comedy show but the look on the person's face told me everything I needed to know. I started crying, as any same pregnant woman would have. I thought I was having a miscarriage.

It was a very long walk back to the car and blood was everywhere.

My companion started driving like a maniac so I said, "look I am not having any cramps, no pain at all. At this point if I am having a miscarriage there is nothing that can be done so you are driving like a maniac for no reason and I don't need to be more scared than I already am.

I got to the hospital which was not close, in one piece. I don't really remember getting into the ER. I do recall urinating in a cup and it looked like Hawaiin punch. The DR took one look and got a portable ultrasound machine.

That was the first time my son waved at me and we all laughed.

The twin was gone but his sac had continued to grow (that's why I looked twin pregnant) until the size of my son squeezed it enough for it to bust open. This all happened about 3 weeks before that fateful ultrasound.

I felt like I was grieving all over again for the second baby that would never be. I decided it would have also been a boy and named him. :-) I was remined many months later that if only for a second, he existed.

What is Fetal Hydrops?

Again I went home to do research. It wasn't sounding very promising. :-(

• Fetal hydrops is a severe birth defect, that is, in most cases, lethal for the developing fetus. The term "hydrops" simply refers to abnormal fluid collections in at least two "spaces" in the fetus. This may mean skin edema, cystic hygroma, pericardial effusion, pleural effusions, abdominal ascites, or polyhydramnios. Hydrops can be diagnosed at any age, but most commonly presents by 14-18 weeks.
Hydrops is not a diagnosis in itself, but it is a sign of another disease process at work. Hundreds of entities have been noted to cause fetal hydops. Some of the most common etiologies are:
• Chromosomal abnormalities.
• Rh isoimmunization or incompatibility.
• Viral infections, such as parvovirus infection.
• Cardiac defects and arrhythmias.
• Fetal bleeding, and subsequent anemia.
• Blood disorders that may cause severe fetal anemia, for instance fetal alpha thalassemia.
• Rare metabolic disorders.
The prognosis for hydrops is very poor. The rate of fetal demise is very high, and neonatal survival in the NICU is the exception. The prognosis is directly related to the underlying etiology. Some etiologies such as cardiac arrhythmias or treatable forms of anemia (such as fetal parvovirus B19 infection) can have fetal survival. This requires proper diagnosis, and in utero therapy.

First Tuesday appointment w/Dr. G

I get there on Tuesday and find out that Tuesday is high risk pregnancy day at the hospital. Dr G is a perinatologist so he specializes in high risk pregnancies. (Perinatologists are obstetricians with a subspecialty of obstetrics/gynecology in maternal-fetal medicine, which deals with high-risk pregnancies and requires additional years of concentrated training in obstetrics.)

We go straight into the ultrasound room. Dr. N meets us there as does another Dr I don't recall. I'll call him Dr X.

Dr G asked me if it was Ok to speak in front of me. Finally a Dr that understood me. I am not an alarmist and I like the plain truth. So they ultrasound, look and talk to themselves. There were theories and disagreements. It was very facinating. I was so caught up in solving the mystery I almost forgot it was my baby and me they were discussing.

At some point Dr N left. Dr G told me he believed it was fetal hydrops but that Dr N did not agree. He explained why he thought it was fetal hydrops. I was told I would most likely miscarry soon. I had the impression it was not possible to carry a baby to term with fetal hydrops.

This was just the beginning of bad news Tuesday's.

What is a cystic hygroma?

Based on the FISH test results and I had no risk factors for cystic hygromas this was a mystery.
As soon as I got home I did more research.

Cystic hygromas are fluid-filled sacs that result from a blockage in the lymphatic system. The
lymphatic system is a network of vessels that maintains fluids in the blood, as well as transports fats and immune system cells. Cystic hygromas are single or multiple cysts found mostly in the neck region. A cystic hygroma can be present as a birth defect (congenital) or develop at any time during a person’s life. A cystic hygroma in a developing baby can progress to hydrops (an excess amount of fluid in the body) and eventually fetal death. Some cases of congenital cystic hygromas resolve leading to webbed neck, edema (swelling), and a lymphangioma (a benign yellowish-tan tumor on the skin composed of swollen lymph vessels). In other instances the hygroma can progress in size to become larger than the fetus.

Cystic hygromas occur in approximately 1% of fetuses between weeks 9 and 16 of pregnancy.
Causes: Cystic hygromas can occur as an isolated finding or in association with other birth defect as part of a syndrome. They result from environmental factors, genetic factors, or unknown factors.
Environmental causes for cystic hygroma include:
• Maternal viral infections, such as Parvovirus of Fifth’s disease
• Maternal substance abuse, such as abuse of alcohol
Genetic syndromes with cystic hygroma as a clinical feature:
• The majority of prenatally diagnosed cystic hygromas are associated with Turner syndrome,
a chromosome abnormality in which a female has only one X chromosome instead of two.
• Chromosome abnormalities such as trisomies 13, 18, and 21
• Noonan syndrome
The pattern of inheritance for these syndromes varies depending upon the specific syndrome.
Isolated cystic hygroma can be inherited as an autosomal recessive disorder for which parents are “silent” carriers. Finally, a cystic hygroma can occur from an unknown cause.
Testing: Because the risk for a chromosome abnormality approaches 50% when a cystic hygroma is found prenatally, amniocentesis or CVS (chorionic villus sampling) can be performed to diagnose these conditions. If a genetic syndrome is suspected, test availability depends on the specific disorder. Maternal viral studies may also be considered if hydrops is present or maternal exposure can be documented.
Work up for a prenatally diagnosed cystic hygroma includes:
• A detailed ultrasound, including fetal echocardiogram, to look for other anomalies that may
indicate the cause for the hygroma
• A complete family history to determine if testing is indicated for hereditary syndromes.
• Amniocentesis or CVS to look for chromosome abnormalities or a specific genetic syndrome.
Viral studies on amniotic fluid can be performed if indicated by the presence of hydrops.
(Maternal serum screening does not help in determining the prognosis for a fetus with a
cystic hygroma.)
• Periodic ultrasound evaluations are necessary to look for resolution of the cystic hygroma
and/or development of other anomalies or fetal hydrops.

In the event of a fetal demise, a complete post-mortem exam (autopsy) is helpful to determine
risks to future pregnancies.
Prognosis:
In some situations, a cystic hygroma can be present in a healthy baby. If a chromosome abnormality is not found in the fetus, the outcome is generally better than for those who do have a chromosome abnormality. If a cystic hygroma is an isolated finding that resolves around 18-20 weeks gestation and the fetus has normal chromosomes, the outcome is good for 54-80% of these cases. In cases in which an isolated cystic hygroma does not resolve by 20 weeks gestation, 2-9% have a good outcome. Overall, there is generally a poor prognosis associated with the prenatal finding of cystic hygroma. Studies have indicated that smaller cystic hygromas are more likely to resolve.
Oligohydramnios (not enough amniotic fluid) or polyhydramnios (too much amniotic fluid) predicts a poor outcome. Hydrops occurs 22-76% of the time with a cystic hygroma and is almost always associated with miscarriage or fetal death.
Treatment:
A baby with a prenatally diagnosed cystic hygroma should be delivered in a major medical center equipped to deal with neonatal complications. An obstetrician usually decides the method of delivery. If the cystic hygroma is large, a cesarean section may be performed. After birth, infants with persistent cystic hygroma must be monitored for airway obstruction. A thin needle may be used to reduce the volume of the cystic hygroma to prevent facial deformities and airway obstruction. Close observation of the baby by a neonatalogist after birth is recommended. If resolution of the cystic hygroma does not occur before birth, a pediatric surgeon should be
consulted.

The day after the amnio

My instructions were to stay in bed and rest. They must have forgotten about the hourly checks. They were suppose to be for heartbeats but when they could not hear it they pulled out the U/S, hence the hourly U/S.

Every time I had to get up to urinate there went all the water the baby had created. But a miracle was happening, the sac was repairing itself. But I didn't know that. I had never heard of someone's water breaking and the pregnancy not terminating. Dr G must have known because he never mentioned inducing me again. I hung out in bed all day. I can't recall what was going through my head but knowing me I was most likely pondering the meaning of life.

"The amniotic fluid surrounds the fetus throughout the pregnancy. The fluid is produced from the amniotic membranes and from fetus' urine. Its function is to protect the baby from temperature changes, trauma and allow it the freedom to move about and stretch. It also keeps the uterine wall expanded so it won't compress the growing fetus and placenta. The fetus swallows, breaths, and digests the amniotic fluid. By the end of the pregnancy there is approximately 1000ml (1 liter) of fluid in the amniotic sac. The fluid is basically clear or a little cloudy in color and is continually being made. If a mother ruptures her membranes early in her pregnancy, the rupture site can seal over with bed rest and a doctor's help, allowing more fluid to accumulate." Compliments of: http://www.pregnancy.org/article/inside-womb-who-are-players

Very late that night Dr. G came in and said, "we got the FISH test back". He confirmed my baby did not have Turner's syndrome because it was a boy. He also told me the trisomy 21 (Down's Syndrome) portion was negative. Now we had a puzzle, what was wrong with my baby?

The following day was Saturday and Dr G told me I could go home. I was scared because I was still leaking fluid all the time but it was not the flood I had previously. I was put on bed rest and instructed to return Tuesday.

Amnio day

Bright an early I got to the hospital. I was in a pretty good mood. I did not know what was wrong with my baby but I knew HE did not have Turner's syndrome. Turner's only happens in females and I was 100% sure I was having a boy. Turner's is a horrible thing so I was in a good mood.

Before putting me under Dr G checked me and told me he setup an appt for me to see Neurology right afterwards to deal with my never-ending migraine. he was shocked to find I was leaking amniotic fluid, I was not. I explained to him that at my last regular appointment I told the OB that I was leaking and he told me it had to be urine but he never checked me. Dr G was so furious I thought his head was going to blow-up. I was pretty glad he wasn't angry at me and felt sorry for the DR that had not followed up properly.

Dr G was the chief of the clinic but someone else was the director. This was a military hospital so all sorts of rules have to be followed. So Dr. G went to discuss the matter with the director, Dr N to see if we should proceed or not. Under the circumstances they decided to go ahead.

I recall some young Dr's asking if they could do my U/S before the amnio started and if they could stay. It didn't bother me.

I forgot to mention that every time someone did an U/S my baby waved. I was use to it but the interns thought it was so cute. My baby, making them smile from within the womb.

And then I went to sleep.

I woke-up none the wiser. It always feels like you just went under when they start calling your name to wake-up. I really think they should let us sleep longer. :-)

So after some time I went down to Neuro. I was sitting on the table discussing my headache and what they had given me in the ER every night when my water broke. My face registered shock so he asked me what was wrong. Well I'm here to tell you, a man is a man, it does not matter if they are doctors or not. So he reacted like a typical man by freaking out. If he could have beamed me up and out I would have been gone in 1 second but he had to wait for someone to get me out of there. I came by wheelchair so my chariot awaited. I never saw him again.

Back up to OB I went. Dr G admitted me and into a room I went to await the end. Everyone knows once your water breaks you are having a baby that day. The day had started out so promising and now here I was about to lose my baby. Nothing much happened throughout the day but they did take an U/S every hr and every hr we got a wave. He was still there. In the early evening DR G came in and told me two things, one he would get special permission to run a FISH (fluorescence in situ hybridization) test which would come back in 48 hours instead of the 10 days the amnio would take. The second things he said was he would go to the General to ask if they could induce me. His theory was why prolong this for me. Military hospitals will not do an abortion and inducing at 16 weeks was essentially an abortion. I just looked at him.

The rest of the ultrasound

Dr G left the room to tell my parents we could not continue for them to see the U/S because of my headache. I have the most understanding parents in the world, they never asked anything except how my headache was.

He came back in and told me he found two cystic hygromas on my baby's neck. He told me he thought by baby had Turner's syndrome.

Dr G wanted to reschedule my amnio because I was in so much pain from my migraine. But I insisted because I was already in so much pain I might not notice that 100 inch needle going into my stomach. :-0

Well I will give him credit, he tried. It hurt so much he said, "I have never done this before but I am going to put you to sleep to do this". :-) Worked for me.

When I walked out I was worried about my parents so I tried very hard to pull myself together. There was no point in saying anything until I knew exactly what was going on. It was a good thing I had the migraine and the failed amnio because there was no way I could look like I was not crying. This was just the beginning, I think I cried for years.

Sunday, August 2, 2009

The ultrasound

There was my baby. I could see his hands, feet, spine, head, toes, fingers, everything. I was laughing................

Dr. G turned off the ultrasound and turned to me. He said, “I can’t continue with this, letting you think everything is Okay. There is something wrong.

I burst into tears without even knowing what was wrong. I'm sure it was the hormones. Then I went into shock.

I was 15 weeks pregnant when I went in for my ultrasound and amniocentesis. A doctor I had never seen before met me in the room. He introduced himself as DR. G. and told me he was going to do my ultrasound and amnio.

I was excited even though I was suffering from a nine day migraine. Their had been many ultrasounds in the beginning for my miracle baby but this would be the first one where I would see something that looked like a baby.

My parents had flown in for their annual visit from the Islands the day before. I brought them with me. This was suppose to be their first time seeing an ultrasound.

I chose the possibility of life

This story is my personal experience of carrying a baby with a terminal prognosis to term.

All women in this situation have two choices, to terminate the pregnancy or not.

I chose the possibility of life.