The Backstory

The Pregnancy
I had a normal pregnancy. During our anatomy scan we discovered that Juliana had a two vessel umbilical cord. I had minimal testing during pregnancy but did have some bloodwork that showed very low odds of having a baby with certain genetic disorders such as Trisomy 18 or Trisomy 21.

I was told that that a two vessel cord is often a normal variant. However I wasn't very reassured when my very experienced midwife said that she had seen about five of them in the course of her career. Because a two vessel cord can be a soft marker I decided to pursue a consultation with a perinatologist. I needed to know if there was anything very seriously wrong with my baby; that is to say that I needed to know if there was a chance that she would not survive life outside the womb.

To my delight, the perinatologist said that everything looked good. He said that her brain waves looked normal, her organs looked normal and her growth was quite spectacular. However, I remember very clearly when he told me "I can't guarantee that this baby does not have Down syndrome." These words meant nothing to me. I was so relieved to hear that there were no medical issues incompatible with life. Down syndrome seemed like no problem, and I recalled that my risks from the blood testing were low, anyway. I didn't really give it a second thought. By this point I was quite far along in pregnancy (about 30 weeks) which I assume is why I was never offered any further testing.



The Birth
Juliana was born on March 2nd, 2011. She was born at 36 weeks and 1 day gestation; a full six weeks earlier than her brother. Accordingly I was in denial that I was in labor until shortly before she was born. She made her entry into this world only about fifteen minutes after we had arrived at the hospital. My midwife broke the waters and announced that there was meconium present. The NICU team was called into the room, just in case.

We were all prepared for her to nurse immediately after birth, but she was blue and she was immediately whisked to the side of the room where she was given oxygen. After a minute or two it became evident that she was not breathing well enough on her own and she was taken to the NICU. She had aspirated the meconium.

She was a week pre-term and she weighed in at 7lbs even.



The NICU
She lived in the NICU for three weeks and six days. She was briefly ventilated and then spent another 2+ weeks on  oxygen. As she began to heal she should have been ready to eat. But she wasn't. My plan to nurse exclusively was put on the backburner as I became desperate for her to eat orally. Suddenly, for the first time in my experience as a mother, a bottle didn't seem so bad.

She was finally discharged with an NG tube and a long list of specialists to see. The main concerns at the time were the feeding issues and her sacral dimple. We also knew that she had a small heart defect (VSD) that would require monitoring. In retrospect I feel certain that the NICU staff must have suspected a genetic disorder, but aside from one kind warning from my favorite nurse, nothing was ever mentioned to me.



The First Months at Home
Tears come instantly when I try to think how to describe the first few months at home. It was the darkest time of my life. I had a sick baby; a baby who was the definition of failure to thrive. She was in constant pain. We were merely existing, trying to get through each day, minute by minute. It was terrifying and no one - no one - had any answers. I was slammed with postpartum depression, brought about partially from the stress of a NICU stay and the realities of life at home but also very much from being unable to feed my baby. See Why Juliana Doesn't Eat (Much) I hung on by the skin of my teeth, trying desperately to do what was best for my children while also wishing that I had never embarked upon this journey and at times praying for it to all go away.


It's Genetic
The perinatologist had told me that it was a possibility. Then my pediatrician said the same thing when she first saw Juliana. But I was in the throes of denial. Juliana looked like a normal baby. Yes, she had some various health issues, but they all seemed pretty minor. I was only concerned about her eating. A month or two later we saw a neurologist who said that it was definitely a genetic disorder and we had to do genetic testing. I was crushed. I wanted things to get better; a genetic disorder was so permanent. I couldn't wrap my mind around it. Instead I dutifully had Juliana's blood draw for a microarray. I didn't even call for the results, I just waited until the next appointment to hear the news.

I was elated when the testing came back with nothing abnormal. I was told that it was still something genetic and by this time I knew enough to agree. Since the microarray didn't find anything I was very hopeful that we were looking at something "milder."

The picture we sent to Genetics months before our appointment.
On November 23rd, 2011 we finally had a visit with Emory Genetics. I went into the appointment with very few expectations. I actually thought that they would probably say that they didn't have a clue what was wrong and that we could try some more testing. So it was a huge surprise when the genetic counselor casually said "Oh yes, we think that we know what Juliana has. It's called Kabuki syndrome. Have you ever heard of it?"

No, we had not. It's a rare disorder that is likely underdiagnosed. Some say that the prevalence of Kabuki is 1 in 32,000 live births. Just for comparison, there was a 1 in 1,000 chance that Juliana could have had Down syndrome.

There is Hope
Since Juliana's birth I have (slowly) learned that while genetic disorders come with their own unique challenges, the course of the person's life is not predetermined. I outright reject any limitations that are based upon her medical diagnosis. Sadly, her medical issues largely defined her first year of life. We are now moving towards health and leaving that trying year behind. She will no longer be defined by her diagnosis; I will not allow it. She is Juliana: silly, stubborn, opinionated, inquisitive, observant.

I am an unabashed proponent of the GAPS protocol for those with health issues (there are only a few instances where this protocol is not appropriate). I am a proponent of alternative therapies but it has been quite a process to determine what helps Juliana and what doesn't. (See Investing in the Future.) Juliana is healing and achieving, one step at a time, by God's grace.

1 comment:

  1. Would you be willing to talk to a mom with a baby with oral aversion? Baby is only 6 months old. Please email me: ckrawczak@parenttoparent.org Thanks

    ReplyDelete