This is my beautiful little girl.
Her name is Amelia Rose, and this month, she turns 2 years old. The big thing on my mind? Amy’s birthday party. We’re having a pool party, and it’s all about Elmo, her favorite character. Before today, it was the most important thing of the moment. Then, everything changed.
First, let me back up. Amy was born at 39 weeks, my second daughter, 4th child overall. She was born perfectly healthy, and beautiful.
She is my husband’s first living child, and she had inherited his light brown “dalmatian spots”. They were adorable. I teased him about it a little. She also had a little bit of a bow to her left leg. My husband was worried, and so also I teased him about being a first time parent.
All babies have bowed legs! Everyone knows that. Silly daddy. We asked the doctor about it anyway- who (unsurprisingly) agreed with me.
Fast forward to Amy’s 12 month checkup, and we had a new pediatrician. He asked me about her dalmatian spots, which I learned are actually called “café au lait” spots. She has 11 scattered all over her trunk. Then I learned another new word: Neurofibromatosis, Type 1. It is also called NF1. It turned out her father had it too, and the baby I had just found out I was pregnant with would carry a 50% chance of inheriting it also.
Soon after we saw a neurologist, who assured us that having NF1 wasn’t a big deal. As long as she had no symptoms, we weren’t to worry. I was also told to count her spots, and watch to see if she started getting more. Wow, I had read all this scary stuff online. I was so incredibly relieved! (Spoilers: That was terrible medical advice.)
Looking back now, I see that curve in her leg, and it frightens me. So much walking, climbing, jumping. The curve is SO obvious, but we just didn’t think about it much. “It’ll straighten as she grows…” her doctors said. It never did.
In early May, I was shooting a video in the backyard when I noticed that she seemed limping a little. I wasn’t alarmed, but I thought it was pretty odd. There were no bruises, no red marks, no rubbing on her thighs from her diaper… I had no idea why she would be limping.
After a few days, I decided to take her to the doctor. He said it was probably caused by a childhood virus that settled into her hip joint, and it would go away in a week or so. I asked (for the 3rd or 4th time) if it could have anything to do with the fact that she had a slight curve in her leg. He said (again) it was normal and would straighten as she grew. I was very relieved, like I always was. But it was odd- I was sure that legs straightened when they started walking, and she had been walking nearly a year. I chided myself for being a worry-wart, and dismissed the thought.
Except, the limp didn’t go away. I took her back after a couple weeks, and he decided to get an x-ray of her hips, as well as several blood tests to make sure it wasn’t some scary serious condition. I didn’t hear from him, so I wasn’t too worried. Plus we were swept up with my other daughter’s graduation, our newborn, and then my dad got sick and nearly died… She wasn’t in any pain, so it got back-burnered.
A few weeks ago, it suddenly struck me (for the 20th time) that I needed to follow up. Since the thought had finally occurred to me during business hours, I called the doctor. As expected, her hip x-ray was normal. I asked what the next step was, and he said he didn’t know. Did I want to be sent to an orthopedist? Of course I did! The first available appointment was today.
My husband asked me if I wanted him to go. I told him it wasn’t a big deal, that I could handle it, and hoped he’d give us an easy answer. Maybe she needed physical therapy? I hoped he wouldn’t be upset over wasting his valuable time over a little limp. The orthopedist asked me what was the problem was, and I said something with her hips must be affecting her gait. He confirmed her x-rays were good, but she certainly had a now very obvious limp. He watched her walk, but seemed mystified.
I decided to ask again, and pointed out the curve in her leg. After determining she had no pain in her leg or hips, he asked if she had any birthmarks. The instant he said that, my heart leapt into my throat and my blood ran cold. I knew this suddenly had something to do with NF1, and asked stutteringly if that was the problem. He refused to answer, asking to see her spots. Checking her out, he said he thought he knew the problem, and wanted x-rays of her lower legs to confirm. (X-rays which were not fun to get from my combative, frightened toddler.)
I’m not a doctor, and so I don’t know a lick about x-rays. But even I could see that her leg-bone was pretty severely curved. It was shocking to see.
It took about 10 seconds for him to say she had Congenital Pseudarthrosis of the Tibia, which which I had him repeat twice before he finally wrote it down for me. I asked what the treatment was, and he said that he couldn’t tell me. Treatment is a matter of great debate. Probably a brace, or surgery, or both, but there was no cure, and she would have pain her whole life. He also said he wasn’t qualified to help her. He’s referring her to a Shriner’s Hospital, which is thankfully close in Sacramento.
Of course I’m stupid and looked at Dr. Google. It’s rarely diagnosed after age 2, and 50% of the time it results in amputation. AMPUTATION. I had to walk away after that.
My husband is a mess, angry, and blames himself. I’m just sitting here in shock. It’s just a limp! I was worried about wasting this guy’s time over a limp, and I had this dropped in my lap. WHY IS THIS HAPPENING???
I just don’t even know what to think. The orthopedist is doing a referral for us, but I’m going nuts. So I called too. Maybe they will call back tomorrow? Also, Congenital Pseudarthrosis of the Tibia isn’t on the treated conditions list… but surely he wouldn’t recommend somewhere we couldn’t go?
The nurse today talked to me about perspective. Her life isn’t in danger. She’s not at risk of anything mental which will make Amy not Amy anymore…
But, just… WHY??? I don’t want her to live in chronic pain in the future. I don’t want her to be disabled, or different.
And I’m a little pissed. Why didn’t her doctor notice earlier? It wouldn’t have affected the outcome… or would it?
Pissed. Sad. Scared. Mostly scared. The unknown is always scary. ?