Viability

I consider this week a major milestone for little Samuel. It is week 24 and is the first week in the pregnancy for “viability” as my OB points out, meaning it is the earliest recorded week a baby can be born and actually live outside the womb! Of course, this possibility more than likely applies to normal, healthy babies. It is still reassuring to know this fact just in case I was to go into preterm labor at any point.

I also believe because of this “viability” factor, it is probably the same reason why most states will not allow abortions after week 24. I didn’t know this time table until recently (week 18 when Samuel was diagnosed). The doctors have made Dan and I very much aware, and several times. Initially, we felt they were pushing us in that direction, but the moment we took the firm stance and said there is no possibility, they all eased up. My OB has even asked me if I chose a name. When I told her it was Samuel she said it she loved it and it was absolutely perfect. She has referred to him on several occasions as my “dear sweet boy”. I sense she does have compassion in her heart for our situation and I do feel much more comfortable now talking to her.

Dan and I decided our next steps are to determine the hospital we will deliver. We have a set of questions and scenarios we want to run by our OB then make the decision. We also want to speak to a neonatologist about some of Samuel’s complications, namely the major one so far found- his meningomyelocele or neural tube defect located around his sacrum / lower portion of his spinal cord.

On a separate and happy note, Dan was finally able to feel Samuel kick for the first time! It took place sometime last week. He was so happy to finally have the opportunity to feel our baby’s movements. The frequency of little Samuel’s movements have been still erratic and a lot of them are still very soft. But I have no doubt that as he grows bigger, his dad will have many more opportunities!

Struggling with Upcoming Decisions

Today I have been given even more information to consider, some from my OB and some from a Christian lady (friend of a friend) who had a baby with Trisomy 13 almost 10 years ago who lives right here in San Diego.

At my OB visit today, no problems were found with the baby or my own health. However, certain recommendations my OB gave me only several weeks ago have been now overridden because of reasons given to her by the UCSD Genetic Specialist (the one with the poor bedside manner I mentioned in my past post). Originally, my OB recommended me to deliver at a specialized hospital with a level 3 neonatal intensive care unit (NICU). Today, she says I should deliver at Scripps which only has a level 2 neonatal unit which isn’t really prepared to care for a baby with Samuel’s condition. She also acknowledged the UCSD doctor’s recommendation to not wear a fetal heart monitor or do more follow up exams on Samuel’s heart. But I did sense that if I wanted to push things to go back to the original plan, we could. I left the visit today feeling somewhat angry and more confused than ever.

Tonight my husband and I decided to make a phone call to a woman we learned had a baby girl with Trisomy 13 almost 10 years ago and talk to her about her general experience with doctors and labor & delivery decisions their family made. We got the referral from Dan’s sister Shiela and had a good feeling she would give us some well needed perspective from a Christian standpoint on some of these big upcoming decisions we are about to face. In summary, she left everything in God’s hands and had a remarkable testimony of faith. Her and her husband chose not to take any heroic, aggressive means (surgery-wise) and let God’s will be done however it was to play out. It was also their hope their daughter would be born alive and they were fortunate to have this happen! Their little girl survived longer than any other Trisomy 13 case in that hospital and went home with the family 1 week later. She lived for 7.5 weeks (much longer than the median age) and finally went home to Jesus. Her story left me feeling hopeful again. I was able to remember again that I am not in control (this has been a huge struggle for me) and that alone is giving me back the peace I need to allow the remaining of my pregnancy to take place as it should and not be so worked up over every little minor detail of Samuel’s condition. In some ways (I told my husband this tonight) I feel like I am my own worst enemy. I have a constant battle in my head wanting to know every single little detail, researching the severity, wanting to know all my options, wanting to do the right thing…. yet there is no peace about any of this! I seem to be making myself stir crazy when all I probably need is a lot of prayer and ability to focus that everything will be just as it should in God’s timing.

22-Week Ultrasound Follow-up

Today we had another ultrasound with the UCSD Genetic Specialist so we could check the status of Samuel's internal organs. It took about 45 minutes and this visit was definitely not as uncomfortable as the last one. Both Dan and I were much more at ease now that we have digested the information of his condition over the past 4 weeks, but there is still not a day that goes by that we don’t hope and pray for some tiny, perfect miracle to transpire that can fix our little boy. Today’s findings in the ultrasound were similar to what was found 4 weeks ago. His heart is still strong but there may be an AV canal defect or a hole in his heart (still not conclusive), his kidneys and bladder are still enlarged and his neural tube defect is still pretty extreme but not life threatening. Samuel seems to have stabilized for the most part but his growth seems to be slowing. 4 weeks ago he was about 2 weeks smaller than his real gestational age. Today, he is almost 3 weeks smaller then his real gestational age. They determine this by taking measurements of the cranium, humerus and femur. From my research, this is pretty common for Trisomy 13 babies.

The biggest thing that came out of today’s session was our follow-up discussion with the doctor. Of course, she was very frank about his grim chance for survival. But the shocker for me occurred after I asked when we'd have another follow-up visit to verify his true heart condition or severity of his other organs. Her response, “No more follow-ups are recommended at this point because we essentially know the outcome of his life and what would truly be the point?” Not the best bed-side manner I felt. She said if having follow-up visits and further in-depth ultrasound scans would put our minds at ease then we could continue, but it would not based on the doctor's recommendation. I was shocked because I thought doctors would be all over this type of thing, wanting to watch him closely week by week since he is so high risk to pass at any time, but it’s quite the contrary! This hit me pretty hard. She did recommend follow-up visits to monitor my health (there is a risk I may develop preclampsia) and to check Samuel’s heart beat every two weeks. And now its seems the rest of my pregnancy becomes a waiting game and it is not sitting right with me.

Next week I will have another check-up with my regular OB and I have decided to talk to her about my options. I think I will ask for more ultrasounds of my sweet Samuel since there are so few chances I have to see him. I have always looked forward to these types of check-ups in the past and just because we now know he has a chromosomal defect does not change my longing to see him and know his current condition.

Another major discussion topic that came out of today's session was the doctors recommendation to not monitor the baby if/when I go into labor. Basically, if there are any complications during labor and the baby goes into fetal distress, we would let nature take its course and not put me through an emergency C-section. I hadn't even consider this. It really was too much for us to think about at that moment and we are not anywhere close to making this decision yet. I thought monitoring the baby for any labor was such a typical thing but I learned today it is definitely a mother's and father's choice.

Ultrasound Pictures of Our Little Samuel

Samuel is, without question, such a big part of our family. We now talk about him every day and are growing to love him more and more for every moment we have with him. I savor every little flutter I feel in my belly. He is not active enough to start feeling strong kicks outside of my belly which is still unfortunate for his dad.

Last Thursday’s OB check-up went well. Samuel’s heart was beating 160bpm! He is so strong and such a good little fighter. He reminds me a lot of his big brother Luke and I bet has a strong temperament too. :)

We requested to have Samuel’s pictures sent to us from his 18wk ultrasound appointment. Because that day was so very hard for us, we neglected to ask for these images at the time. A few days later we realized we DID want them and thought it might be too late to still get them. We want to treasure every little piece of his existence for as long as we have with him. The counselor at the UCSD Medical Center got back to me and told me he would locate Samuel’s images after checking a few different databases. I didn’t hear back for a few days and finally last Saturday they came in the mail. We were thrilled! After reviewing the images again, he is every bit as perfect just as we remember when we saw him on the ultrasound scan live. Here are a couple of snapshots taken of our little angel:





Samuel's Profile









Samuel's Ankle





Additionally, last night we finally scanned the 12 week ultrasound image that was taken at my normal OB office ~8 weeks ago. This was the week the doctor discovered the ‘prominent’ bladder. You can vaguely see the dark spot in the lower portion of his body (far right side). I would never have guessed it was slightly enlarged until the doctor pointed it out.

Results Confirmed

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.

Initial Discovery of Pregnancy Issue

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.