Omar's story

My husband, Rodolfo, and I had been married for 4 years when we learned I was pregnant with our son, Omar. We were very happy and we decided we were not going to find out the sex of the baby until the birth. We only prayed for a healthy baby.

I was about 11 weeks along when I started spotting so I made an appointment to make sure everything was ok with our baby. My OB was out of the office so another doctor in the practice saw me. He sent me for an ultrasound and afterwards the technician walked me back to his office. The doctor briefly looked at the image and said everything looked great. I started to walk out the door, when the doctor called me back. The technician apparently pointed something out to him. I know it wouldn’t have made a difference, but I remember thinking, I should have kept going or walked faster. He took me to his office and explained to me that my baby had cystic hygroma (fluid in the back of the neck) and something was “off” about his brain. He said it could be nothing or it could be serious. I opted to think it was nothing and they were just being cautious. He told me I needed to see a maternal fetal medicine (MFM) doctor. They called me that same day to schedule an appointment for the next day.

After a long and agonizing ultrasound, the MFM told me that the cystic hygroma, or fluid in the back of the neck, usually indicates an issue with the heart, which usually indicates a chromosomal abnormality. She said my baby could have Down syndrome or Turner syndrome. I thought, it’s ok, they are beautiful loving children who survive. I asked if it could be anything else and she said yes. The genetic counselor presented to me all of the possibilities and I eventually stopped listening. She then told me they can do blood work to find out more information. They explained that the baby’s cells go into the mother’s bloodstream and they study these cells. I agreed to the test. At that time, I just wanted the tests to prove them wrong, so I could move on and enjoy my pregnancy.

The following week, we left to California for a vacation we had planned to visit our family. While we were there, we received the call with the results. What I understood was that there was a 50% chance that my son had Trisomy 13 (T13) or Patau Syndrome. I felt like there was still hope that he did not have it. Nonetheless, my husband and I grieved this news. We shared our news with some of our family in California, who were all so supportive. A couple of days later, while we were on Fisherman’s Wharf in San Francisco, I received a call from my OB. She asked what I was thinking about all of this and whether I was considering termination. She said she would be supportive of my decision either way. I told her termination is not an option for us. I told her that my baby may not even have T13. She said the screening tests did not mean 50% chance, but instead it was a positive predictive value . She advised me to talk to the genetic counselor about this. I felt so lost and didn’t know what to believe.

The next few visits with my OB and the MFM were unbearable. There were a lot of tears shed, a lot of questions we asked, a lot of planning for the birth (us more than them). They both told me I should deliver at the hospital that doesn’t have a level IV NICU and we should only offer my child comfort care. This was difficult for me to comprehend. At the time, I was a social worker working in a pediatric hospital with the pulmonary team. Prior to that, I worked in a county hospital, where I worked with children with special needs. Working at a children’s hospital, you celebrate when children feel better and are heartbroken when children do not survive. How could my OB and the MFM physician suggest that we let our child go without giving him a chance?

There was also the push for the me to have the amniocentesis to confirm the diagnosis. My husband and I initially agreed not to have it. They convinced me to schedule it and told me I could cancel it if I wasn’t sure. I ended up cancelling the first appointment for the amniocentesis. However, the more ultrasounds we went to, the more they kept telling us how many things were wrong with his heart. We made the decision to have the amniocentesis so that if my son did have T13, we could speak with the specialists beforehand so they would be aware and ready intervene, if necessary. In hindsight, I should not have done the amniocentesis because the neonatal team would have still been there at his birth to provide him care and the specialists would have still seen him in the NICU. Note: Often at some hospitals, a confirmed diagnosis of T13 will lead to the denial of care for the baby.

About a week later, we received the devastating confirmation of T13. We were heartbroken because the thought of losing our child became more real. My husband and I gave ourselves some time to grieve, but we always made ourselves go about our day and make the best of it. Our son needed us to be happy and unified. I hardly told anyone of his diagnosis until closer to his due date. I just did not want to deal with the questions.

Once Omar was confirmed to have T13, my OB insisted my son be delivered at a hospital that did not have a level 4 NICU. The hospital where I worked at the time, did have a Level 4 NICU and it was in a hospital that I was very familiar with and where I had worked for the last 3 years. My OB was very reluctant, saying that she only delivered babies there when she knew the baby may need a heart surgery. My OB truly believed my baby would not live long and that no one would be willing to perform a surgery on him, if needed. Eventually, my OB agreed to deliver my baby at the children’s hospital where I worked, with a level 4 NICU. At that point, we spoke with the neonatal team and palliative care team, who were very supportive of our birth plan, including making my son, full code, which means all attempts are made to save his life.

We saw a pediatric cardiologist who did a fetal echocardiogram. She told us all of the different issues they saw on the echo. She also told me that some of the things may improve at birth. She told us something no one had told us since we learned something was wrong; she said there was nothing that indicated that he would not be born alive, from a cardiac standpoint. Finally, some good news.

I also gathered enough strength to talk with a pediatrician, who I had worked with in the special needs clinic of the county hospital. When I told him about my situation, he told me there were more children with T13 who were living longer and that the medical community was beginning to be more aggressive in treating children with T13. He said the shift was similar to that of the Down Syndrome community. They too, were often denied heart surgeries because of their diagnosis.

Before I became pregnant, I had distanced myself from church, only going sporadically and was minimally involved. When I learned something was wrong with Omar, I decided to meet with a priest from church, Fr. Victor, for some guidance. I needed guidance on how I was supposed to go through a pregnancy fearing that I may lose my child. I was quickly reminded that I had to put all of this in God’s hands. I had done everything I could to prepare and now I had to trust in His plans. I wholeheartedly prayed like I never had before. We asked for the intercession of Sr Lucia of Fatima and St Gerard Majella. We also knew many people all over the world were praying for the wellbeing of our baby. It was all a very humbling experience that reminded me not to take anyone or anything for granted.

As my husband and I prepared for the birth of Omar, we were hopeful and prayerful, but we were also realistic about the fragility of children with trisomy 13. We only bought the essential things that he would need while he was in the hospital. We thought, if he does survive, we will be in the hospital long enough to buy whatever Omar will need when he comes home. We did not have a baby shower, but instead we had Fr. Victor, do a blessing for our unborn baby at our home, along with our close family and friends. It was so moving to see all of the support we had during one of the most difficult times in our lives. Everyone there put any differences they had with each other aside, to be there for our son. My son was already bringing people together, who had not spoken to each other in years, from inside of my womb.

Finally, Omar decided he was ready to come into the world. The first time I laid eyes on Omar, I did not even want to breathe. I didn’t want to distract anyone from taking care of him. My OB had told us she would not monitor my baby during the delivery, because she was not willing to put me through a surgery, a c-section, for a child that would likely die. So, we really did not know what would happen when he was born. When I saw Omar, he was purple and did not seem to be breathing or moving. I was able to touch him briefly while my husband cut the cord. At that time, the neonatal team, who was already standing by, took him to work on him. I couldn’t even bear to ask if he was alive because I was afraid of what they might say. And then, I heard him cry, a weak cry, but nonetheless a sign of life. After they stabilized Omar, I was able to touch his hand before the team, my husband and the deacon walked him to the NICU. He was baptized in the NICU.

Omar did amazing after birth. He only needed CPAP for less than 24 hours after birth. He did struggle with feeding, but we were working with the feeding therapist while in the NICU. He did have an episode of apnea, but they attributed this to him still learning how to suck on the bottle. Fortunately, Omar did not need any immediate surgeries after birth. The cardiology team told us some of the issues they saw, resolved at birth and the other issues, they were able to monitor for now. We were discharged home from the NICU after only 2 weeks.

Although Omar continued to have apneas, I felt he would eventually get better. I have connected with many families through social media, and many of them also experienced these apneas and their child eventually grew out of them. Today, Omar is doing well and rarely has an apneic spell. He is now 26 months old and counting. He has had one surgery, in which he did well.

Omar is growing very well and is getting stronger. At 3 years old, he is able to army crawl, almost sit up independently, and take some steps with support. He is also able to practice eating pureed foods by mouth. He is able to repeat clapping patterns with his hands. He smiles and laughs constantly. He is a sweet boy who will grab your cheeks so that you can talk into his ear. Our lives are busy with appointments and therapies, but we’re so grateful to have a great team of doctors, therapists, teachers, nurses and family and friends to help take care of Omar.

Omar melts my heart. His smiles are so pure and innocent and he is an inspiration to me. Every time he is in therapy, he works very hard. When I feel tired, I remind myself of the hard work and effort that Omar puts into his therapies. This gives me a burst of energy to keep going. Although he is doing well, he is still a child with complex medical needs. He reminds me to take everything one day at a time.

The message I would like to share with others is not to feel sorry for us. I cannot express how blessed we are to have Omar. He is the strongest person I know. He never gives up, even when I thought we were near the end, one too many times. He brings so much joy to everyone that meets him and he is a fighter.

I would say to parents who receive a prenatal diagnosis of T13 that T13 is a diagnosis, not a prognosis. Many doctors are still being taught outdated information; that our children never survive or that they will be in a vegetative state. Many of the things seen on the ultrasounds and echos, either were not present at birth or resolved shortly after. Not only did we experience this, but I also hear about this from others in our online support group. I would also say to keep fighting to find a doctor/hospital that will treat a baby with Trisomy 13. There is someone willing to help. We were always very realistic, in that we know that many children with T13 pass even with great medical care. But we were also aware of many children who do survive and thrive and are very loved and reach their own milestones. Lastly, I would say to put it in the hands of God and enjoy every minute possible with your child. God already had a plan for Omar and I knew that His will would be carried out.

I would like OBs and Maternal Fetal Medicine doctors to know that babies with T13 and other chromosomal abnormalities can survive and thrive. I would encourage them to read the new literature about children like Omar. I would encourage them not to offer abortion as the solution, but instead support the families in their decisions. I would encourage them to see these embryos and fetuses as humans and not a part of the mother that can be removed when the baby is not “normal.” I believe all babies should have a chance at life.

This journey has been challenging and we could not have gotten through our pregnancy, Omar’s birth, multiple hospital admissions, and illnesses without God’s grace, the love and support of our families, friends, medical teams, home health nurses, teachers, therapists, and all those who prayed for us. I have been told I am doing a good job with Omar, based on how well he is doing. I always say it has been a team effort. I am forever grateful for all that they have done and continue to do for Omar and us.