Charley's Health Update

I've had a lot of people ask for updates on Charley's health since we have been going to a few different specialists lately, so I thought I would give all of the details in a post.

Before Charley was born, the doctors saw a few things in her ultrasounds that needed follow up once she was here. Her kidneys were swollen and it looked like her ureter could possibly be blocked (Kevin had this when he was a kid). She also had a tethered cord, meaning she has an extra vertebrae in her spine and it ascends further down than normal, leaving a dimple in her cute little bum.

When she checked out of the NICU, the doctors made a follow up appointment with the urologist to look into her kidneys. So at 2 months old, we went in for an ultrasound and a consult with the doctor. We also had them do an ultrasound on her spine, since we were already there. The urologist said that her kidneys were still inflamed, but that he was pretty sure they would clear up on their own as she got a little older. He wanted to do another ultrasound in 6 months to follow up, but there was no major concerns.

Our pediatrician took the results from the spine ultrasound and followed up with a neurosurgeon to see what steps should be taken. He had us come in for a visit so he could check Charley out himself. Again, he wasn't too concerned with the tethered cord, but to be sure, he wants us come in for an MRI in about 6 months to see for sure if any surgery needs to be done. He was pretty optimistic that it wouldn't have to come to that. While we were there, he noticed Charley's pupils were odd shaped. We had noticed the same thing a few days prior. Her pupils didn't fully develop into a perfectly round shape and instead, it looked like they were bleeding down into her iris. He referred us to an opthamologist, since he wasn't the expert. His main concern was to rule out glaucoma.

Daddy and Charley waiting for the doctor.

So we made an appointment with the opthamologist. I was a little concerned since I had noticed that Charley was extra sensitive to the sun and wasn't sure if that was just her or if it had something to do with her eyes. She tracked objects and people really well, so I wasn't concerned that she was having a tough time seeing. The opthamologist diagnosed her with Coloboma, which is a hole in one of the structures of the eye, such as the iris. The hole is present from birth and can be caused when a gap called the choroid fissure, which is present during early stages of prenatal development, fails to close up completely before a child is born. It's best described as a key-hole shaped defect since that is pretty much what it looks like. The doctor said that she should not have any trouble with her vision but that he wants to follow up with her in a year. He also said that since she has 2 other congenital anomalies, he thinks she could possibly have a very mild case of CHARGE syndrome and he sent a letter to our pediatrician asking her to look into this.

CHARGE is an acronym that stands for: Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities and Ear abnormalities and deafness.

Once our pediatrician got the letter from the opthamologist, she immediately called us and asked us to go see a cardiologist the next day. I was thinking it was merely a precaution and that they wouldn't find anything. Since we had been in the NICU for 4 weeks after birth, I figured if there was something wrong they would have caught it then. So I was surprised when the cardiologist said that Charley has a moderate to large hole in her heart that will need to be closed surgically. I am so grateful for the way the doctor explained everything to us because he immediately put me at ease. He said that if she was going to have a heart condition, this would be one of the better ones to have. Charley has never eaten a lot; at 10 months old, she is still only eating 5 oz of formula every 3 hours and just beginning to tolerate solid foods. So when he explained that one of the things to watch for was a dip in her growth chart, it all started to make sense. Her heart is having to work harder to circulate her blood because it keeps circling back through her hole a few times before it goes back out to her body. This means that she tires faster when trying to eat. But as long as she doesn't dip in weight, we will be able to wait until she is 3 or 4 years old before she has surgery. And, they will be able to go through a catheter in her leg to close the hole so that she doesn't have to have open heart surgery. It's amazing what they are able to do these days! We will go back in a year and do another echocardiogram to make sure nothing has changed. But the doctor is again, pretty optimistic we will be able to wait until she is a little older to close the hole and said that after that, she shouldn't have any other problems.

We have one more follow up to do, which is to have a genetics test done. This will help the doctors determine if she does indeed have CHARGE syndrome. But if she does, multiple specialists have said that it is the mildest case they have ever seen, which is a blessing! Most children with CHARGE are physically deformed and struggle with so many things, it makes my mama heart hurt.

I've personally have been struggling a bit lately, trying to understand why Charley's development is so far behind. I have so many friends and family who have babies around the same age as Charley and I know I shouldn't be comparing her to others. In fact, everything you read says that all babies development at different stages. And I know this, especially with Charley being premature. But I struggle sometimes when I see posts on Facebook and Instagram of babies younger than Charley so excited to eat solid foods, or sitting up on their own for the first time or even taking their first steps. I'm so excited for their accomplishments but I then wonder what am I doing wrong since Charley is still not doing any of those things? Even after Charley's physical therapist says that she's doing great and that she'll get there at her own pace and that we are doing everything we should be doing to help her.

It wasn't until after we met with the cardiologist that it finally started to make sense. Before, I just kept thinking it was because she was premature. But I would see babies who were born at an earlier gestational period having an easier time at certain things than Charley. But now, I'm starting to understand why. My sweet little girl is having to work harder than the average baby and that means she will be a little slower at things. But we will be able to correct these problems one by one and eventually she won't have to worry about them anymore.

I am so grateful that in every case of congenital anomalies the doctors have discovered so far, they have all been very minor and that it is, for the majority, simply monitoring them to ensure they don't get worse. I am sure that when the time gets closer for her surgery, I will feel more anxious and nervous. But I know that she is in good hands and that all will be okay!