Harlie's Story

In May of 2006, at 16 weeks pregnant, we found out that our baby had a mass growing inside her chest. The only thing we could do was wait and see how fast it was growing. Originally we did not want to know the gender. After this appointment, we talked about it and I said that I had to pull for this baby. And I needed to know who I was pulling for. The next day I called the office and they told me that it was a girl.

At 20 weeks we had another ultrasound and it was discovered that the mass was growing fairly rapidly, most likely preventing normal lung development on her right side. The danger was that the mass would grow and put too much pressure on her heart, causing heart failure (hydrops) during the pregnancy. The plan was to monitor her and me very closely. If hydrops were to develop, it was possible to have open fetal surgery to try to help her.

At 23 weeks, we were sent to DC for further testing. After an MRI and fetal echocardiogram, we were shocked and devastated to learn that she had a rare, complicated heart defect called Congenitally Corrected Transposition of the Great Arteries or L-TGA. In very basic terms, her heart was formed in a mirror image. So everything that is normally on the right, is on the left, etc. She also had a large VSD (a hole in between the ventricles of her heart), and a small right ventricle. Because of her heart defects, fetal surgery for the chest mass would not be possible. The combination of these two, rare, unrelated defects left us with a 5% chance of ever bringing our little girl home. The only thing we could do was wait and hope.

The pregnancy was extremely painful for us. I had weekly appointments and many more tests. All tests came back normal. No reason for these defects. Nothing I did during or before the pregnancy had anything to do with why this happened. We hoped for the best and prepared for the worst.

At 37 weeks, I was induced at Washington Hospital Center in DC. (She would need to be transferred to Children’s National Medical Center next door immediately after birth). She was an easy delivery for the most part. Although, not surprisingly to me, the cord was wrapped around her neck a few times (she was a VERY active baby). As soon as she was born, we knew she had more problems than we anticipated. She had trouble breathing, and we only heard a faint squeak from her. I got to hold her for only a few seconds and they took her away. I had to wait 3 weeks to hold her again.

Harlie has Goldenhar Syndrome (a craniofacial syndrome), VACTERAL Association, and Congenital Lobar Emphysema. There is no known cause for these defects – it is just “luck”. There is no genetic code associated with these abnormalities, nor are there tests to confirm diagnosis. In fact, Goldenhar and VACTERAL are both a matter of opinion based on a collection of abnormalities. The defects vary from patient to patient, so no two cases are exactly the same.

Harlie’s heart defects are: L-TGA, VSD, intermittent 2nd degree heart block, small right ventricle, 2 small Superior Vena Cava’s (instead of 1 large SVC), and subaortic stenosis.

Her other defects are:

Underdeveloped lower jaw (micrognathia),

microtia and atresia of the left ear (missing left ear and no canal),

no hearing in left ear, (will get a BAHA in the future)

moderate hearing loss in right ear (has a hearing aid now)

dermoid, cleft and coloboma in left eye (her eye didn’t close properly),

skin tags on both sides of face,

vertebral anomalies (hemivertebra in several places, butterfly vertebra, and kyphosis scoliosis),

misshapen skull,

anoperineal fistula

congenital lobar emphysema.

Everyday since her birth has been an adventure for our family. Thankfully, the chest mass had shrunk considerably, so that was put on the backburner. At just 4 days old, she had her first heart surgery. They put a band on her pulmonary artery and placed a pacemaker. Her second heart surgery was the Glenn, in March 2007. She spent almost 3 months in the hospital after that surgery.

In August of 2007, her chest mass reared its ugly head and surgery was required. Her upper right and lower right lobes were successfully removed, allowing the middle lobe room to grow.

Because of her underdeveloped lower jaw, her mandible occludes her airway, causing an upper airway obstruction, which didn't allow her to swallow or breathe from her mouth and nose. So at 16 days old she had surgery for a tracheostomy and gastrostomy (feeding tube).

Since the trach is placed below the vocal cords, no air passes through (which is what causes sound).  So when she cried, she made no sound.  This meant she didn't learn to cry to get what she needed or wanted.  And she didn't learn to coo or babble.  Her mouth wasn't used to suck on a bottle, swallow formula, or cry, or coo, so her muscles just never learned to move around the way they are supposed to.  Combine that with an abnormally developed jaw and you have a lot of challenges to overcome to learn to swallow and talk.

To date, she has had over 60 surgeries and spent more than her fair share in the hospital. Despite everything, she is doing great. Most physicians and therapists cannot believe her medical history when they see her. She is super smart and more stubborn than anyone I have ever met. We think she is beautiful. And she is worth every ounce of effort we have to give to keep her safe and sound.

Harlie has taught me so many things. The most important so far, I believe, is to be thankful. I try not to dwell on what problems we have, instead I try to be thankful for the problems we don’t have. I am eternally thankful for the body parts that work properly. I am thankful for her spunk and spirit. I am thankful for my husband and sons. I am thankful for our family. I am thankful for the friends that have stayed by our side, and for the friends that have come into our life since Harlie’s birth. I am thankful for our wonderful nurses. I am thankful for all the great doctors and nurses that have taken care of her, and me. I am thankful for our social worker. I am thankful for the trach board. I am thankful that God gave us Harlie. And I am thankful for every single person that has reached out to us in some way, supported us, made us dinner, cut our grass, listened to us talk, helped us take care of Murphy and Cooper, wrote to us, sent us cards, gifts, care packages, contributions to The Harlie Fund, etc. Every “little” thing made a difference to us, and continues to make a difference to us.

To all of you, I am thankful.

Love,
Christy and Tom (and Murphy, Harlie and Cooper)