Jackson was my second pregnancy. We didn’t know we were having a boy until he came along two months early!

My pregnancy with Jackson was very normal at first, until I came up “high risk” (1 in 50) for Down’s Syndrome during my first trimester blood screening. We were then referred to Valley Children’s Hospital for further testing where they were able to do another blood test, separate the baby’s DNA from mine, and test it. We were then told we were “low risk” (1 in 10,000) at that time, and felt relieved.

When I went in for my regular check up at 31 weeks, my urine protein units were high and my blood pressure was even higher. Then my doctor told me he wanted me to go to the hospital for “further testing.” I was directed to go straight there. We arrived a short while later and a lady brought us in and started checking me in. They then showed me to my room and had me change into the normal hospital gown and started me on a series of injections to help the baby’s lungs develop quicker. My doctor came in to see me a short while later and told me he needed me to get to 34 weeks gestation so that the baby’s lungs would have a better chance of being developed.

Doing the math in my head, that was 3 weeks he wanted me to be there! I thought he was crazy! The next few days were filled with urine testing, needle pokes for blood tests and lots of nurses in and out of my room all night long.

By the 4th day my blood pressure was sky high, my protein levels kept creeping up, and my red blood cell count was going down. I was in need of a blood transfusion, which turned into two blood transfusions. After the second transfusion, I was feeling pressure under the right side of my rib cage, just above the baby. I tried to tough it out, but by around 5 PM, the pain was unbearable, and was causing me to have problems breathing. My husband quickly called the nurse who called my doctor. He was there in about fifteen minutes and told me the baby would need to be taken by emergency c-section “tonight.”

The pain I was feeling was my spleen, and they were afraid it erupted, so the surgery was scheduled, and the clock was ticking. My husband was a nervous wreck. He was excited to meet our baby, but scared at the way he was going to be making his entry into this world. About 30 minutes later, I was being prepped for surgery. My husband was all dressed up in his paper suit, and ready to hold my hand.

Then the anesthesiologist came in with bad news. He told us that he was afraid of what they may find damaged when they opened me up, and decided to put me under general anesthesia instead of just an epidural, which meant that my husband would not be allowed to be in the operating room when our baby was born. He gave the anesthesiologist his cell phone, however as he said he would take some pictures of the baby when he came out for us.

A nurse came in to get the last few things ready for surgery. She walked us through the process and told us that it was very early for the baby to be born. He would most likely go directly into the NICU which was attached to the operating room. If the baby needed more than 50% oxygen, they would fly him to Valley Children’s Hospital after they could get him stable. We were both freaking out a little. My Doctor came into the room and said they were ready for us, and a couple nurses rolled me away. My husband was an emotional wreck! The nurse came in later, handed him his phone and said, “here’s a picture of your son.”

Since we didn’t know we were having a boy, my husband was beyond happy! He asked about me, and the nurse said they were having a difficult time with recovery, but that I was stable. When he was finally allowed to see me, I was still out of it, but I remember him telling me we had a little boy. The pain was unreal and the meds weren’t even touching it. I wasn’t able to see my son for the next 24 hours due to the medications I was on.

When I did finally get to see him, he was perfect! And he wasn’t on any breathing or feeding tubes! However, the on-call Pediatrician had some concerns and said he wanted to test him for Downs, again. He came back negative for Downs and we started our journey with the genetics department. We came to find out our son had UBE2A Xq24 deletion. A very rare genetic disorder that only affects males. I also found out I am a carrier for the disorder. Jackson is a very healthy three year old boy now. He is delayed in gross motor skills and has some intellectual delay, but he is the happiest little boy ever! Through our journey, we have now found three other families with boys who have the same genetic disorder. Two in the UK and one in Iowa. Because this disorder is so rare, genetics weren’t able to tell us much so us moms have had to rely on each other for support.

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