A New Understanding of Perfect {Birth Defect Awareness}

Our beautiful baby girl Aria was born in September 2012 after a pretty quick delivery…only 11 hours after my water broke. She was so perfect and sweet, and we couldn’t be more excited for our first child.

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When we went to our two week check-up at the pediatrician, we asked about her feet being turned in. Our pediatrician told us that it was just caused by her position in the womb, and they would straighten out as she got older. However, when I took Aria in for her two month check-up, at my mom’s urging, I asked the pediatrician again about her feet – particularly her left foot because it was still quite turned in. He said that he still thought it was positional, but he referred us to a pediatric rehab doctor to see if she would want to put a brace on it. That doctor echoed the pediatrician’s diagnosis that it was likely positional, but she wanted to get an x-ray just in case. I didn’t think much of it because she was so sure nothing was wrong, and in the blur of having an infant, I forgot that I was even waiting for the x-ray results.

When the doctor called about five days later, I answered the phone in a good mood, just assuming she would tell me everything was normal. Instead, I got devastating news. Aria’s tibia {the larger of the lower leg bones} was fractured in the calf area, and there was a growth in the bone that could be cancer. Cancer. Not a word you ever expect to hear in regard to your two month old baby. I remember that when I hung up with her, I sat down on my stairs, looked at my sweet little baby sleeping so peacefully in my arms, and the tears started. I called my husband, my parents, my best friend, and I just kept looking at that perfect baby thinking it couldn’t be true.

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She immediately referred us to Texas Children’s Hospital for an MRI, for an appointment with orthopedics, and for an appointment with oncology. Just putting “Oncology Appointment” in my calendar seemed so wrong.

The MRI came first because without it, there was no way to diagnose her. Because babies move around so much, they have to be put under general anesthesia for an MRI – which meant that Aria wasn’t allowed to eat after 3am. Considering she was used to eating at least every 3 hours and the MRI wasn’t scheduled until 10am, she was very grouchy. It made me feel so bad because she couldn’t understand why I wasn’t feeding her, and I just felt like such a mean mommy.

General anesthesia requires an IV be inserted into very tiny, little baby veins, which isn’t easy. But I think they got the needle in on the second try. Aria was, of course, screaming, and she looked up at me as if to say, “Why are you doing this to me, Mom?” Gut wrenching. From there, we headed to our first appointment with the orthopedic surgeon – Dr. P at Texas Children’s. He pulled up her MRI results and assured us that it did not appear to be cancer. He also called the Chief of Muscular and Skeletal Radiology at Texas Children’s to look at the MRI who agreed that it did not look like cancer. Whew. However, that began our journey of figuring out what this is.

They both considered congenital pseudoarthrosis of the tibia  {CPT}, but they both decided that it didn’t appear to be that. But neither knew what it was. Dr. P decided that he should perform a biopsy on it {which entailed a full surgery – cutting her leg open and taking a sample of the tissue inside the bone} so that we could rule out a malignancy and hopefully get some answers. That was scheduled for one week later, the day after Thanksgiving.

They got us in pretty quickly, and in no time, she was whisked off to the operating room. I was grateful that at least this time they didn’t put the IV in until she was already under the anesthesia. We managed to commandeer a little room inside the waiting area because Aria had quite the cheering squad! We definitely had more people there than anyone else. It was amazing to see how many people already loved this little girl who had only been in our lives for two months. The surgery was pretty quick – only about two hours, and then Dr. P came out to tell us that it went okay. The doctor put a hot pink cast on her leg which we all signed when we got home.

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Ultimately, the biopsy results did not provide any answers {except that it was not cancer!}, and after an ultrasound, more x-rays, and a follow-up appointment with Dr. P where he indicated he still didn’t know what it was, we decided to seek a second opinion at Texas Scottish Rite Hospital in Dallas which is a specialized pediatric orthopedic hospital. Our doctor there {Dr. Birch} said he was sure that it was CPT which he has treated many times.

A short description of CPT is that there is cystic tissue inside the bone where the bone should be solid which prevents the bone from being able to heal on its own. Typically with CPT, the bone is also bowed. About 50% of the time, it is associated with neurofibromatosis, but Aria’s genetic test revealed she does not have that – thank goodness. There are different techniques that can be used to treat it, all of which require highly invasive surgery in which the bad tissue is removed from the bone, a bone graft is taken from her hip and placed over the fracture area, and metal rods and pins are inserted. There will definitely be at least one or two surgeries to replace the rod and possibly a surgery {or more} to lengthen the leg if it doesn’t grow as long as her other one…so we are probably looking at a minimum of at least 3 more surgeries. Plus, she will likely have to wear a brace until skeletal maturity {in her teens} to protect the bone. From everything we’ve read, this is one of the hardest orthopedic conditions to treat, and no one knows what causes it.

Sometimes, these treatments work. However, sometimes the leg re-breaks, and another surgery is required. This can happen over and over. Dr. Birch said that his philosophy is that a child’s leg should not define her whole life. That there are many great parts to the child and that at the point that her whole life revolves around one body part and surgery after surgery, it is time to amputate the leg because it actually leads to a better quality of life.

Amputate…I can hardly believe that I am even writing that word in reference to my daughter. I can’t even say it out loud. I prefer to talk around it, like “we may not save the leg.” Amputate is just too too scary and too technical and too horrible to consider. I joined a support group on Facebook for this disorder. Most of the members are parents with a child that has it, and some are adults who lived through having it. They give great advice and support. I have heard from several of those moms that their kids’ lives drastically improved once they made the decision to amputate. That is a bridge we will cross when we get to it, but we cannot really deal with it right now. We do know, however, that we won’t put her through surgery after surgery to repeatedly try to fix her leg if it refuses to heal. We want her to enjoy her childhood, not live in fear of breaking her leg.

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Dr. Birch’s advice was to put Aria in a brace for now and postpone surgery as long as possible to give the bone time to grow. The bigger the bone, the more healthy area there is to work with, and therefore, the higher chance of success. So for now we will continue on in the brace with periodic trips to Dallas to see Dr. Birch and hope for more progress. She’ll be getting a full leg brace next month which will go all the way up her thigh {instead of just below the knee} to help her walk better, so I’m sure that will take some getting used to. We will operate when she either can’t walk anymore or it starts hurting her. As hard as it is to believe, it doesn’t hurt her at all right now. She can’t put much weight on it, but with her brace, she has started walking and crawls like a champ – and generally just lives a happy life. And for the first time last month, we had good news when we went to the doctor. Part of the bone has filled in and some of the bad tissue has gone away and been replaced by healthy bone! Dr. Birch seemed surprised; this is a rare occurrence apparently, but it definitely made us feel like we made the right decision in waiting to operate!

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I recently read a blog post about saying – “I don’t care what it is as long as it’s healthy” – in reference to your unborn baby and the impact those words could have on a non-healthy baby. This doesn’t particularly bother me, but it raised an interesting perspective. Of course, we all want healthy, perfect babies. But raising an “imperfect” baby has certainly taught me to appreciate the little things and to see the bigger picture. That this is “just her leg”…and it doesn’t define who she is. Because let me tell you, she doesn’t let it slow her down! She is a happy, very busy, tough little girl who doesn’t cry at the normal things like ear infections or falling down, and she couldn’t care less that she wears a brace and doesn’t even know she has a “problem.” We try to live by her example and not dwell on what might happen because we don’t know what the future will bring – whether a surgery will ultimately be successful or if we’ll have to amputate or if by some miracle, her bone will heal on its own. We just enjoy her daily antics and make adjustments where we need to. And while we do know she has a tough road ahead full of surgeries and braces and casts, we also know that her easygoing, resilient personality will see her through these hard times, and we’ll be there for her every step of the way. And we think she is perfect just the way she is!

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Today Houston Moms Blog is dedicated to spreading awareness about birth defects, and Aria’s story is just one of many that we plan to share with all of you.  Please join us as real local moms open up and tell the stories of their little miracles all throughout the day.  Our hope is that we can open the eyes and open the hearts of the moms in our community and that our little fighters will become the brave faces of birth defects here in Houston.  To read more, please click here.

[hr] Colette BioAbout Colette J.

Colette is a native Houstonian. After graduating from the University of Texas at Austin with a BA in French, Colette continued on as a Longhorn and attended law school at UT as well.  She has been working for several years in Houston as a lawyer.  When Colette isn’t juggling work and looking after her daughter, 2 dogs, cat, and husband, she enjoys traveling, baking, reading, watching TV, napping and spending time with family. Oh, and she’s expecting baby #2 in July!

5 COMMENTS

  1. I love your perspective on this how you say It doesn’t define her. Aria is so adorable! And she definitely doesn’t look like it is holding her back at all!

  2. First of all, as a musician over here, I just love her name. Aria is a beautiful little girl and I think you have an amazing perspective on this whole situation. She looks like such a happy baby. And you’re right – God doesn’t make any mistakes and she is perfect the way she is.

  3. I just stumbled upon your story. My child has neurofibromatosis and pseudarthrosis. He is able to walk and run fine because the fibula is in two pieces, not the tibia. Amputation is a possibility for him, too, in the future. His tibia may break and not heal. He also wears a brace.
    I am trying to prepare us for all possibilities. I have learned of the Paley Institute in Florida (google them) as well as some now experimental surgeries in Minnesota? Anyway, I hope things are going great for your little girl.I wanted to make you aware of these places in case you weren’t already since we seem to have similar journeys. God bless…

  4. My daughter has been diagnosed with CPT recently. I feel your pain as a mum. I will be trying alternative therapies to heal the leg and if I’m successful I will return here and let you know.

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