Chloe’s Other Birth Defect Diagnosis

I wish I didn’t have to, but I’m going to have to start from the very beginning. Yes, I know this will be long but you will understand it better this way!

Chloe was born in November, 2008. First push was strong, perfect. Second push, head was out. Angelee, the nurse delivering Chloe, told me to pause before pushing again. The umbilical cord was wrapped so tight around Chloe’s neck that she had to cut it before delivering her. Third push, Chloe was here!

Immediately, the staff noticed this red mark on Chloe’s neck. They all concluded that it must be from the umbilical cord, since it was extremely tight and wrapped multiple times around her neck.

Nine hours later, we learned of Chloe’s heart defect and her “neck mark” was no longer an urgent issue.

Fast forward to Chloe’s meet and greet with her pediatrician. She was one month old. He, too, agreed that the neck mark must be from the cord. He even went on to speculate that the cord might have been wrapped around Chloe’s neck for a long time in utero, creating this mark. He said that once she could hold her head up, the mark should heal.

Fast forward to Chloe’s open heart surgery at Denver Children’s Hospital when she was four months old. I asked the staff there to look at Chloe’s “neck mark” and give us a second opinion. The ENT there did a scope and said everything was normal. He agreed that the mark must be from the umbilical cord.

Fast forward to Chloe’s Fundoplication surgery and Gtube placement at Children’s Mercy when she was seven months old. I mentioned Chloe’s “neck mark” to the staff and expressed my concern that it wasn’t healed yet. An ENT there did a scope (again) and said everything looked normal.

For the next year, I would research Chloe’s “neck mark” and never found anything that remotely resembled it. I would ask the pediatrician at every visit about it. If it was from the umbilical cord, why wasn’t the mark horizontal, across her neck, instead of vertical and in one spot? Why didn’t other kids have marks on their necks, because the umbilical cord wrapped around a newborn’s neck isn’t uncommon? I have NEVER seen this neck mark before on a child, ever. It definitely was not a birthmark, either.

When Chloe was almost seventeen months old (March 26, 2010), we met an ENT named Dr. Weatherly at Children’s Mercy. He performed Chloe’s tongue-tie surgery. After the surgery, he asked us about her neck. We said that she has had two normal scopes and that we’ve been told by everyone that it must be from the umbilical cord. Dr. Weatherly said he wanted to do an MRI because he thinks it’s a fistula (a fistula is an abnormal connection or passageway between two epithelium-lined organs or vessels that normally do not connect). We scheduled the MRI for the earliest opening available, May 28, 2010.

Finally! A doctor who is curious and is willing to take the next step to try and solve this mystery! A few days after speaking with Dr. Weatherly, Chloe had a well visit with her pediatrician. I mentioned the upcoming MRI to him and that Dr. Weatherly thinks it’s a fistula. Chloe’s pediatrician said it’s possible, but that it is most likely a thyroglossal duct cyst.

That evening, after Chloe went to bed, I researched for four hours straight. I had “fistula” and “cyst” to add to my google searches. But the more I read about them, the more I knew her mark was neither.

I came across a page regarding congenital neck malformations. After reading and scrolling down a bit, I saw a picture of a baby with the SAME EXACT NECK MARK AS CHLOE! I immediately had chills. I knew this is what Chloe has! Chloe’s is slightly different than the baby in the photo, but it was too similar to NOT be it!

It’s called a Congenital Midline Cervical Cleft (CMCC). Congenital meaning present at birth. Midline meaning occurring in the center or “midline” of the body. Cervical meaning neck. Cleft meaning type of defect.

It is an extremely rare birth defect, with less than 100 cases EVER reported. No wonder no one could diagnose this “neck mark” on the spot! It is thought to occur during early fetal development. My theory is that since all three of Chloe’s birth defects (heart defect, tongue-tie and CMCC) are all midline, I think the birth defects all happened around the same time during the first eight weeks of her development in utero.

I immediately called Dr. Weatherly and asked that he consider CMCC when reviewing the MRI results.

I still had to wait six weeks for the MRI results. Would they confirm my theory or the ENT’s theory or the Pediatrician’s theory? While I waited, I obsessed about my theory alot. Surgery is necessary to avoid contracture (neck immobility) and jaw deformities. What if my theory is correct? Then Dr. Weatherly has probably never seen this, especially since it is so rare. And if he has never seen it, then he has probably never performed the surgery.

So I started researching surgeons that have published papers about their pediatric patients with CMCC and the surgery they have performed. The one ENT that kept popping up in literature is Dr. Maddalozzo in Chicago. He was the fourth ENT surgeon I called. When I spoke to his nurse, she knew right away what CMCC was. She went on to say that he has performed the surgery at least six times in the nine years she has worked for him. And just last year, he performed the surgery on a baby whose family flew in from California. I immediately had a good feeling about Dr. M.!

We finally received the MRI results and Dr. Weatherly at Children’s Mercy confirmed my theory that Chloe has CMCC. He said he has never seen this before, nor does he believe any of his colleagues has seen this in the last eight years that he has been at CMH. Just as I suspected, he has never done the surgery, either.

I emailed Dr. Maddalozzo’s nurse a bunch of questions. Dr. M reached out to me personally and answered each one over the phone. He has been doing this for over 20 years and even though he has regular ENT patients, he is known nationwide for treating pediatric patients with rare congenital head & neck abnormalities.

For more info on how her surgery went, click here.

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