Our Journey With Holoprosencephaly: Part One

April 3, 2014

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In April of 2009, my husband, Kevin, myself and our son were very excited to find out we were expecting our second child. A girl named Teagan, who was born in January 2010. Within 24 hours after her birth she was diagnosed with a birth defect called holoprosencephaly (HPE). Before her birth neither my husband nor I had ever heard of HPE. As parents of a child with HPE, we want to bring awareness to this birth defect. We also want to support other HPE families and let them know they are not alone. There is HoPE in holoprosencephaly.

Holoprosencephaly is a brain malformation where the forebrain does not completely seperate into two different hemispheres. In more severe cases the brain does not seperate at all. Once known as arhinencephaly, HPE is a neural tube defect that occurs sometime between the forth and sixth week of gestation. There are three types of HPE: alobar being the most severe form, semilobar being intermediate and lobar being the least severe form.

Holoprosencephaly is the most common forebrain defect and can be as common as 1 in every 250 embroys and 1 in every 10,000 newborns. It is possible to diagnose in utero. One of the most common ways to diagnose HPE is with a catscan (CT) or magnetic resonance imaging (MRI). While there is no cure for HPE, treatment is symptomatic and supportive. Some symptoms and conditions caused by HPE are as follows: cyclopia, median cleft lip and palate, seizures, missing front teeth, closley set eyes, small head, multiple hormone deficiencies, feeding difficulties, developmental delays and more. We were told two HPE brain scans can be identical and each child can do completly different things and have different symptoms, but the actual cause of holoprocencephaly is unknown.

My pregnancy was typical. Morning sickness, tiredness, headaches, heartburn, and cravings all came. These were much worse this time around. I did feel as though something was different with this pregnancy. At 20 weeks we had our first ultrasound.  It was the usual 20 week anatomy scan when we would finally get the answer, "Is it a boy or girl?" Girl it was!

We were a little nervous to have a girl. Our boy was so much fun, we didnt know what to expect from a little girl. A few days later we got a very unexpected call from the obstetrician's office to schedule an appointment for abnormal ultrasound results. Our doctor told us that our baby girl would be born with a cleft lip and palate. My husband and I were both in shock and scared to death.  I was crying for many reasons, one being a sort of relief, it was "only" a cleft lip and palate. Of all the scenarios and defects that went through my mind, a cleft lip and palate was much easier to hear. If I had known then what I know now.

At this point in my pregnancy, I was considered high risk. We began to see a perinatologist and he confirmed the cleft lip and palate. We continued to follow up with him doing 3d/4d ultasounds to check for other birth defects. There are many other birth defects and disorders that can go along with a cleft lip and palate, HPE being one of these.

And so we began our journey with Texas Children's Hospital. We were referred to the plastic surgery department to meet with the cleft team. We also were set up with the cardiology department to have a fetal heart ultrasound, the results were normal. Everything seemed to be okay besides the gut feeling I had that there was more than the cleft lip and palate and the feeling that our baby girl would be a very special child. Call it a mother's intuition.

On January 16th, 2010 at 11:00 a.m. our beautiful baby girl entered this world weighing 6lbs and13oz and 19 inches long. She changed our lives in so many ways, forever. She stopped breathing and was put in the neonatal intensive care unit at our local hospital. The neonatologist there decided to send her to Texas Children's Hospital due to her complex medical needs. She was flown to Texas Children's via the Kangaroo Crew, Texas Children's transport team. The Kangaroo Crew brought Teagan to my room before leaving with her to explain the routine for transport and to let me love her. They all reassured me they would take care of my baby girl.

A short while after arriving at Texas Children's, Teagan was diagnosed with lobar holoprosencephaly. We were very blessed to only have stayed one month in the NICU. Some families are there month after month. We still say the NICU is one of the hardest places we have ever been. Texas Children's Hospital continues to be our #1 hospital because they were always there for us during this difficult time.

Dr. Frank Placencia was her neonatologist. There are people you meet in your life who you will never forget. He is one of these people to us. We could never thank him enough for what he did for our little family. He was very caring and understanding. He answered all of our questions no matter how many we asked or how many times we asked. He explained Teagans condition in "everyday" terms so we could understand eveything about her and what was going on in her little body. He even took the time to teach us the correct spelling and pronunciation of holoprosencephaly, (hol ' õ - pros-en-sef ' ă - lē). Teagan's NICU team made sure Teagan had the best care. They also made sure we were taken care of and supported us through everthing. Our nurses were our saving grace. One of the hardest parts of the NICU was explaining to our four year old son what was going on. I remember asking out NICU team, "How am I supposed to explain to Teagan's big brother that she is sick and may not live?" They responed with, "our child life specialists."

The child life specialists were great with Dalton. They helped him understand why he had seen his mommy and daddy cry more in the last 24 hours than he had in his entire life. They explained to him all he was seeing, wires, tubes, cords, lights, needles, doctors, nurses and therapist, etc. They also helped us understand this situation from his point of view and how to explain life and death to a childs understanding. Teagan was a sick baby girl. She had stopped breathing several times. At three days old her little body was tired and beggining to shut down. Our family, friends, community, and people from around the world prayed for her. We had faith and believed there was a bigger plan for her life than we could see. She slowly began to improve with treatment and our faith. We attempted bottle feeding for several days and with no success she had a gastrostomy tube, g-tube placed at two weeks old.

Texas Children's prepared us to fully care for our precious girl and after a very long month Teagan was discarged to go home! But her story doesn't end there. Here's part two.

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