The amnio results came back this afternoon. (deep sigh) Samuel has full trisomy 13, not partial, not mosaic, not due to a translocation. This is the most severe form of Trisomy 13 as every cell in his little body has a third copy of the 13th chromosome. I felt almost robotic with my line of questioning and responses, writing down all key words that were handed to me over the phone so I wouldn’t forget any of the details when I called my husband after. The counselor even commented to me, ‘you seem like you are doing OK hearing this news’. My response to him- I feel like I’ve been preparing myself since the discovery of the enlarged fetal bladder in week 12. The perinatal specialist gave me a hand out in week 13 with statistics showing probabilities of chromosomal abnormalities with this type of thing found with the bladder. Also, my faith in God has been the primary reason to get me through this with some type of sanity. I know God has his reasons for giving me little Samuel with these types of complications and He will also have the sole decision when to take him home. The counselor said a lot of His faith-following patients respond in a similar way and he seemed satisfied with my answer.I hung up the phone and I was back in my fog, the same way I felt last Tuesday after the very grim ultrasound results. I left work today seeing things around me but no real details. I just didn’t care. My body was numb, my thoughts consumed about little Samuel whether he is having any discomfort, does he feel his organs not functioning properly, can he sense his parents are deeply saddened by his prognosis to live.
History
For those that don’t know us, our names our Josi and Dan. We live in San Diego, CA and were married in April 2005. We have one healthy beautiful son named Luke who is almost 2. He has a little 
spit fire personality and is a highly energetic little kid. He has simply been the light of our life. Then we found out in May 2009 I was pregnant again and our light continued to brighten! We couldn’t believe it because we just started trying to expand our family that very same month. My gosh! ‘Ask, and you shall receive’ comes to mind. I am now currently 19 weeks along in the pregnancy with our second child, “Samuel”. We chose this name because it means “Heard by God” and we felt like he definitely heard our request to have another child and answered so quickly. Samuel’s due date is February 7, 2010.
Samuel's ultrasound picture at 8 weeks gestation
9/12/09
On Tuesday, September 8, 2007, we had an ultrasound scheduled to get a better glimpse at our little Samuel since our last scan was done at 12 weeks gestation and he was so small. There was a little concern going to this doctors visit because of two reasons: 1) The baby had an abnormal or 'prominent' bladder which was discovered at week 12. However, we were told that the baby’s bladder had a 90% chance of correcting itself. The alternative could be a urinary obstruction or potentially something worse. 2) At week 17, we received positive AFP result found in the second trimester blood work screening. The AFP result was 4.05 and results for normal babies should fall below 2.5. The doctor reassured us that positive results are not indicative there is a problem with the baby and in fact, many times false-positive readings occur and babies end up being perfectly healthy. Regardless of this hopeful prospect, she referred us to UCSD Medical Center / Genetic Specialist to perform further evaluation on our baby. The sonographer spent ~1 hour conducting our ultrasound. We were told ahead of time by a genetic counselor we would not be allowed to ask questions until a doctor reviewed our images and came to our room after the ultrasound was complete. During the hour, it became unsettling. The sonographer did not say much of anything or indicate what part of the body we were looking at the entire time I was on the table. It was unlike any of our past ultrasounds performed at our normal OBGYN office. No pictures to take home, no warm fuzzies when the baby moved around. Once the evaluation was done, the sonographer left the room to speak to the doctor about the findings. The next 10 minutes were pure agony. The doctor finally came in with two other doctors in training. Our hearts sank. Why would our baby require so much attention? The doctor did not waste any time and immediately started reviewing her findings with us from the ultrasound scan. Her first words were “Your baby has many abnormalities that we are very concerned about”. She went through each of these abnormalities one after another which initially put us at a loss for words. The logic side of me or possibly the pure shock of this news kept me together at first so I was able to muster up a few questions asking about the severity of each one of these anomalies and if they could be related to some primary cause. The doctor stated she definitely believed there was a single source.
Samuel was diagnosed with a severe chromosomal abnormality (either Trisomy 13 or 18) at 18 weeks gestation. The doctor recommended an immediate amnio to confirm her findings. We accepted her recommendation and the procedure was done very quickly. We also had an ‘early look’ FISH analysis performed which took a portion of the amniotic fluid extracted from the procedure. The FISH findings came back 3 days later and concluded the baby does indeed have Trisomy 13. The amnio results are due back sometime next week and will very likely confirm the same results. We can then find out if it is a result of partial Trisomy 13 (not as severe) or full Trisomy 13 (most common of all Trisomy 13 cases).
Trisomy 13 Background
Based on my readings and information supplied by our genetic counselor, I can provide a little background on the disorder for those who have questions on how this could have happened and what it means for our son. Trisomy 13 is also known as Patau Syndrome. It occurs in the first few days after conception and is completely a random event. The baby will inherit 23 chromosomes from each parent for a total of 46 chromosomes resulting in a normal healthy baby. But sometimes, a mutation occurs during the cell division process, resulting in a third copy of one of the chromosomes. This third copy is called a "trisomy". The most common case of a trisomy occurrence is Down’s Syndrome (Trisomy 21), which has three copies of the 21st chromosome. The other two that are not as common and can be much more life threatening are Patau Syndrome (Trisomy 13) and Edwards Syndrome (Trisomy 18). Trisomy 13 and 18 both cause serious physical and mental abnormalities in a child and the majority of them do not make it to full term in the pregnancy. If they do, the child generally has hours or days before he/she passes, but 5-10% of live births actually do make it past their first birthday.
How We Are Managing
Working through this news has been the hardest emotional challenge my husband and I have ever had to face. Just a few days ago we were preparing for a new little life to care for, and now after this news, we must prepare ourselves for a very probable death. Our emotions have been accompanied by anger, fear and a great deal of sadness. However, we have no doubt that God is at work and weaving his perfect and intricate plan for this child and us. It has been a struggle to completely understand this but every day begins a new day... a new day of hope that His will be done... a new day of relief that we can trust Him to get us through this excruciatingly hard time.... a new day of peace that He can continue to provide us comfort and reassurance that everything will be OK.
We are also holding on to hope that our child will be born alive and placed into our arms so that we can have the amazing opportunity to meet and tell him how much we love him.
