Ortho Appointment Details

I won't keep you waiting.  It's surgery time.  Well, we're shooting for April.  I need to call her scheduler tomorrow to schedule it.  But I think we'll try to work it around Spring Break, if possible.  Which kills me.  Because while everyone else is doing something fun, we'll be doing ... that.

Here's the skinny:

There has been a significant change in her spine since last year (and not in a good way).  She has a hemi-vertebrae (half a vertebrae) at the bottom of her spine (sacrum), right above her left hip.  Not only is it half of a vertebrae, it is very abnormally shaped and it looks like it's a part of the one above it.  It's weird.  This is the one that needs to be addressed first.

She also has another hemi-vertebrae in her c-spine (her neck).  The surgeon said the higher the problem, the riskier the surgery.  We will wait on this one as long as possible.

She also has a butterfly vertebrae in her lower/middle of her back (lumbar).  That's the one that you can see - as it sticks out (kyphosis scoliosis).  When you hear the term scoliosis, most think the spine curves to the left or right.  But, with hers (in this particular area) it makes the spine curve front to back.  So, from a side view, it looks like a "c".  So, the abnormal section in her sacrum causes a left/right shift and this one causes a front/back curve.  I hope that makes sense.

She wants to do the sacrum surgery first.  She wants to see how removing the hemi-vertebrae (and then fusing the vertebrae above/below it with pin/screws) will affect the rest of her spine.  It might do enough good that we can wait a while longer on the other areas.

She said she doesn't want to wait anymore.  Too risky.  The worse it gets, the harder the surgery, the harder the recovery.  Since her problems are structural (meaning it's not just a curvature - the structure is abnormal itself) a brace is not an option.

The surgery itself will take about 3-4 hours.  And she will come out of the OR with a BODY CAST.   A BODY CAST!  UGH!  She said she is too wild for anything less.  Here's what her and Cooper were doing BEFORE the surgeon came into the room (you can see the kyphosis in her back):

Brandy took Cooper out of the room so I could talk to the surgeon.  But, Harlie remained pretty wild.  I think she was feeling a little sassy with her new hair cut.

So, a body cast for 6-8 weeks.  She will put only one leg in the cast and will bend it slightly so we can get her in the car seat.  The surgeon gave me a time frame of 4-6 months.  Since she'll be in the cast for 6-8 weeks after that, we are going to try for April, so she can be out of the cast before the summer heat hits.  She's already so hot-natured as it is.  Oh, and if everything goes great - it will be a 3-4 day hospital stay - in DC.  Oh, that drive is so hideous!!!  It took 4 hours to get home tonight!!!

So, that's it.  Not looking forward to it, that's for sure.  But, it is months away still, and within 7-9 weeks it will all be over.  And hopefully, she'll be much "better" after.

And if you didn't see my earlier post, check it out.

Thanks!
~Christy

Orthopaedic Appointment

So, we went to DC on Tuesday to meet another orthopaedic surgeon about Harlie's spinal issues. Well, actually we went to the outpatient clinic in Fairfax. That location got us an appointment faster and, actually, it was a lot easier and quicker to get to. This surgeon specializes in spinal issues which makes me feel better. And she is at Children's National, which is where her heart surgeon is, so I certainly feel more comfortable with her having this kind of surgery there - where she's already well known by the cardiac team. Anyway, I liked her a lot and I feel like she took her time educating me on what Harlie has and what it means.

Basically, Harlie has a few issues:

1. cervical spine deformities - missing some vertebra and she has some fusion (doesn't need attention at this time)

2. Lumbar spine deformities - butterfly vertebrae (1 location), and 1 hemivertebrae (half a vertebral body)

3. Sacrum deformity - 1 hemivertebrae at the very bottom

The outward curvature that you see in this picture is called Congenital Kyphosis Scoliosis.




I've done some research trying to find a good site that explains it well but I had no luck. From what I can gather it is not very common. The congenital version, I mean. Older people can develop kyphosis over time, but that's not the same thing.

Anyway, she said the area that is most severe is in her sacrum. The hemivertebrae there is causing the tilting in her hips. She said that there are two options for correction.

One option is to remove the hemivertebra, in both locations, then fuse the surrounding vertebra in both locations. This is appealing because it will most likely straighten her spine immediately. The negative with this option is that because of the fusion necessary, it will leave her little room to grow. And she means growth in her torso. Which is important to give your heart and lungs the room they need to function properly.

The second option is to put in growth rods. While this might seem appealing to optimize her growth potential, there are some negatives. One is that it puts her in the OR every 6 months for adjustment. And it might not work on the hemivertebra as effectively as removing them, which means we might end up having to remove them anyway. At least that's what I think she said. If there is the option to do the growth rods first, and then removing the hemivertebra, I don't know. And that sounds quite painful and risky to me.

And to make things even better, if I understood her correctly, since she has abnormalities in her vertebra to begin with, her growth potential is questionable. I think she said that since it isn't normal, then normal growth can't be assumed. Or something along those lines.

She said that we will have to do something within the next 6 to 12 months. I told her about her upcoming heart surgery and potential craniofacial surgery (will know more about that next week). She said that both of those surgeries could come first and if necessary we could push her surgery back a little more to give her a little break. I just think that those 3 surgeries are way too much for her in a 12 month period. I mean she's just 2 for crying out loud! But the risk is that the longer we wait to do surgery, the worse it becomes and more difficult the correction will be.

Anyway, Harlie will have to have an MRI and CT scan before surgery. So she said that she would talk to Harlie's cardiologist up there to see if we can work those tests in during her stay/recovery from heart surgery. The MRI is to make sure there are no issues with her spinal cord and the CT scan is to see a full view of the bones.

I think that about sums it up.

Oh, and after that appointment, we left and rushed back to Richmond to take Cooper to the doctor in the afternoon. He has his 4th ear infection (and he's just 4 months old!). I don't know how old they want kids to be before they get tubes. My doc said that the youngest he's had get them is 6 months. Which is really quite funny to me. I mean, I understand it, of course. But, Harlie had heart surgery at 4 days old, and she was born 3 weeks early! So basically she had a major surgery at 37 weeks gestation. So funny all the fuss for ear tubes. Clearly, my perspective is different, well, unique perhaps. Not normal at all. But what is anyway?

Oh, and Cooper weighs 16 pounds. Boy is he chubby! It is so much fun having a chubby baby.

Well, that's it for tonight. Take care,
Christy

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 (an asymmetrical 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 100 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)