Week 20

It's amazing how quickly something so perfect can change in one office visit.

I went to my specialist appointment Thursday February 20, 2014. My doctor requires two visits to the specialist; One during the first trimester and one at about 18-22 weeks gestation. Thankful that I didn't see the doctor I saw during my first trimester (total asshole who mentioned "I'm the doctor all the new moms hate"), I was so excited to see our little man and how big he was getting.

Doctor Susan Janeczek, who is a perinatologist out of Robert Wood Johnson, and  happened to be her first time in the Centra State Medical Center office, was the doctor who diagnosed my baby with Amniotic Band Syndrome (ABS). She must have explained it to me three times while I was an absolute hysterical mess and also ran and grabbed my doctor who happened to be in the hospital at the time of my appointment. My world had crumbled on top of me... why me? I do everything right, and this happens to my baby.

I'm going to make this easy to understand for everyone as the point of this blog is to document my pregnancy and our journey through the syndrome as well as create awareness to current and future mothers. My doctor REQUIRES EVERY PATIENT to see a perinatologist. I was told your regular office visits and sonograms DO NOT look for things like this.  ABS ranges widely from 1 in 1200 to 1 in 15,000 live births and it is RARELY caught prior to delivery. I was extremely fortunate to have such an amazing specialist find this so I can monitor my baby through the rest of the pregnancy and prevent it from getting any worse.

PLEASE DO NOT TAKE THIS AS A SYMPATHY PLEA! I AM NOT LOOKING FOR SYMPATHY! I WANT EVERYONE TO BE AWARE SO YOU ARE NOT A MOTHER OR A FATHER WHO IS IN THE DELIVERY ROOM WONDERING WHY YOU BABY IS MISSING LIMBS!

So to get this started, I want to give you a photo to see while I describe what ABS is:

Let me also make this clear: THERE IS NO ROOT CAUSE TO AMNIOTIC BAND SYNDROME. IT IS A SPONTANEOUS SYNDROME. 

LET'S CALL IT "THE LUCK OF THE DRAW".

The amnion ruptures from unknown causes between weeks 12-18 causing these fibers to float within the amniotic fluid. These fibers are very sticky. If they stick to the baby's face, they can cause deformities such as cleft lip or cleft palate. If they stick to an extremity such as the arm or leg, as the baby moves in the womb, it can become wrapped around the extremity causing the band. The band can either be very tight or just loosely wrapped. The band causes constriction of blood flow to whichever part of the body it is affecting and could ultimately result in amputation. If the band is loosely wrapped, it should be monitored. If not, as the baby grows, it can also cause loss of blood flow and amputation. 

These bands can be released by fetal surgery, in which they enter the uterus and remove the band with a small laser so they baby can have blood flow returned to the extremity. It may also be lifesaving if wrapped around your baby's umbilical cord. Another result of ABS is preterm labor. On average, women who were diagnosed with this delivered at 32 weeks.

This is why it is extremely important to see a specialist who knows about these fetal anomalies and conditions. Although your OB may know about them, these are not things they look for and a sonography tech does not look for them either. Please don't think "This would never happen to me" because I swear, I was that girl last week. It can happen and change your entire life. 

Our baby was diagnosed with ABS Thursday and we went to the Children's Hospital of Philadelphia (CHOP) yesterday for an all day appointment filled with examinations. We had an Echocardiogram of the baby's heart as well as a full body ultrasound scan that lasted almost three hours. They looked at every part of the uterus, the baby's extremities, face, abdomen, thoracic cavity, and made sure he had all of his organs.

Originally, the specialist had seen that Nikko had a thumb and pointer finger on his right hand, but the other three were not complete fingers, and his right foot did not have complete toes. She also saw the band was still attached to his right foot where his toes were incomplete. His other hand and foot were perfectly fine.

CHOP's findings were about the same with a little more hope! Nikko indeed had a thumb and pointer finger on his right hand, but his other three fingers were amputated at the first knuckle off of the hand. I posted a photo below of a similar case:

CHOP also found that Nikko's toes on his right foot were indeed amputated at the first knuckle after the foot. I posted a photo below of a similar case, but it is what his foot will look like in his adult stages of life:

CHOP also saw that there are currently no bands attached to his foot as found in the original findings, but we are returning to the same specialist that found the bands in Freehold once every two weeks to monitor my pregnancy. These bands are so hard to see on an ultrasound, which is another reason why it is almost never found prior to birth.

Our baby Nikko is an extremely healthy baby and will live a completely normal life. He has a normal brain, heart, and everything else you and I have. He will only be cosmetically affected by this syndrome. One of our options was termination of the pregnancy because there is no likelihood of this occurring in another pregnancy, but I feel it is extremely selfish to kill my child because of cosmetic imperfection. I can't terminate my child when it is a perfectly healthy baby.

In the photo below, you can see his right hand up to his face and what this syndrome has done to affect his fingers. Right now, the middle finger, ring finger, and pinky are fused together because of the band, which can be separated after birth by an orthopedic surgeon if necessary. He looks a little funny because 3D ultrasounds are usually not good until 28 weeks when the baby has meat on his bones.

I will continue to post on this blog about our appointments and any new findings throughout pregnancy. We are so excited about meeting our little man and feel we are very blessed to have caught this. If anyone is interested in seeing the specialist I see, feel free to ask me for her information. If you have any questions about ABS, feel free to ask me as well. I have done tons of research and spoken with many doctors and surgeons about the syndrome.

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