Monday, September 25, 2006

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),
missing ribs,
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 32 surgeries and spent more than a year 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.

As of June 2013, we are preparing for Harlie's fourth jaw surgery.  The first three were jaw reconstructions.  The first two, they took bone from her skull and implanted it into her jaw.  The third they took her fibula bone (in lower leg) and put it in her jaw.  Now they have bone to distract.

Jaw distraction is when they cut the jaw on the bottom, on both sides.  They put pins on both sides of the cuts.  Then they attach rods on the outside of the face.  Each day we will turn the screws, which will spread apart the jaw at the cuts.  New bone will grow as it heals.  Then we turn the screws again, essentially re-breaking the bone.  And again, new bone will grow.  This will continue daily for about six weeks.  In the end, we hope to make her jaw longer, which will allow her tongue to lay flat, bringing everything out of her airway, allowing her to breathe through her mouth and nose.  That's our ultimate goal anyway.  A better jaw construction will bring more normal breathing, eating and speaking.  Just a few things we want for our little girl!

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)

9 comments:

Kristen said...

I love the new blog! Sooooooo much better than babysites! I say go for it! (I can tell you how to post photo albums by the way, just give me a call!)

Anonymous said...

Kristen and Tom,

Your strenghth,hope,love,courage,,greatfulness,passion, is as beautiful as Harlie. Thats what will keep you going strong and make this situation come so naturally for the both of you and will keep her strong. God is great and it shows in the two of you as parents and in Harlie. Your endurance is greatly admired and I will keep you in my prayers.

From Kat and Gary

(Steel City Connection Members)

Anonymous said...

Hope says...

I have held Cooper many times. But I never knew you had a little girl. I wish I could meet her. Since Cooper's a little sweetheart I would think Harlie would be a little sweetheart to. I might be working at the YMCA this summer. I hope to see you there. I'll be in the nursery. So please come and vist and say hi. I am Jennifer Sneed's daughter. So see you at the YMCA.

Love you all,
Hope

Anonymous said...

You're an amazing woman and your perspective on life is remarkable. I hope that your struggle gets easier and I hope that Harlie soon knows how it feels to take a deep breath. Best wishes from Boston - keep sharing your story - it's so powerful.

Best,
RLS

Blake Chapman said...

I just learned of your story and most recent trial through MLH, of which we too are members. As I was reading your most recent post, so much of what you wrote resonated with me. Our son, Davison, has Hypoplastic Left Heart Syndrome, the most severe of the congenital heart defects, and we too have had quite "a run." I wanted to let you know that we too had a precariously placed PIC line for many weeks (8, if memory serves) due to a bacterial blood infection following his first open-heart surgery that necessitated, among other heavy duty drugs, gentomyacin (sp?) that often affects hearing. It wasn't easy, but, relatively speaking of course, things turned out fine. We too have never had things go easily or according to plan, but Davison is now 6 years old and approaching 1st grade with his trusty ol' feeding tube and ankle braces. Hang in there, and know that you have people thinking of and praying for Harlie and your family that you don't even know. If I can ever be of support to you, please don't hesitate to contact me (677-5220), and I'd love to meet you all sometime when Harlie is feeling better. We can share reflux stories.:) Our love to you all, Blake Chapman

Janet said...

Thank you so much for sharing Harlie's story. You are such a strong and amazing mom and remind me of my daughter whose first child has Niemann-Pick type A, a rare and fatal genetic disease (visit Kaitlyn's Korner at http://niemannpick.blogspot.com). I will keep you and your family in my prayers.

Susan said...

Hello there! I found your link from tracheostomy.com, of which I am a new member. I gain strength myself from reading of other families "getting through it" and enjoying life despite the surprising cards we have been dealt. i just wanted to send a note of encouragement to let you know that I will be praying for little Harlie ( I love her name, by the way). My son is 7 months old and was trached 3 months ago (www.caringbridge.org/visit/harrisonsnow). It has been a tough road, but we are getting through it...slow and steady. Thanks for sharing your story here and for giving hope to other families dealing with medically challenged children!

Annie B. said...

THANK YOU. You are giving encouragement to those of us who fear having a child like Harlie. I'm glad I found your blog and your words of hope. I've recently begun writing out my experience of my daughter's heart defect and I know that it is DRAINING to do so. I'm glad that there are people out there like you who are willing to share their story!

Anonymous said...

i came across your blog while researching goldenbar syndrome. a friend of mine has a beautiful little boy with it.

you inspire me.

thank you for showing me how to be grateful.

your family is in my thoughts and prayers.