Noelle part One

This is part one of two posts about a little girl Maisie and I met while she was hospitalized for g-tube care. When you spend a large amount of time in a pediatric ward or children's hospital, you meet a lot of moms who are a lot like you. It's a unique place, one of the few places you can have candid conversations about g-tube care or dressing changes. At our last visit to NJ children's hospital, Maisie's roommate was a four-year-old named Noelle who, aside from having cystic fibrosis, was born with limb differences affected three limbs. Her left leg is significantly shorter than it should be (though it is jointed) and the toes on the foot are short and fused. Her right leg is normal. Her left arm is amputated just below the elbow, and her right arm is slightly shorter than it should be, with a deformed hand.

All these things aside, Noelleis a beautiful, bright, and functional little girl. I asked her mom to write a little something for the blog, so here it is.


Hi Charlotte! Thank you so much for featuring my sweet Noelle on your blog! We are both so honored. Our story begins almost exactly two months before Noelle's due date. We didn't want to find out the gender until the baby was born, so we had only planned on two ultrasounds, one at the beginning of the pregnancy and one at the beginning of the third trimester, just to make sure everything was working the way it should. So we didn't find out that there was anything special about Noelle until she was at 32 weeks. The ultrasound tech told us to stay put and the doctor would be right with us. She raced out of the room and my husband and I just kind of looked at each other. This was our first baby so neither of us had any experience, although this hadn't happened at the first ultrasound. The OB/GYN sat us down and explained that our baby was developing differently. Because of the position she was in, he didn't really know what was going on other than that she didn't look like she should. So he wanted us to come in next week for another ultrasound. I was in shock, and assuming the worst, and he was so kind. He said, "it could be nothing, it could be something very minor, but there is a small chance we have a big problem. We're being cautious. At this time, there's nothing to worry about."

I was so scared. Over the next few weeks we learned a little more about her arms, and we came to a conclusion that she had limb differences isolated to her arms. You can imagine our shock when she was born with her little leg, too! We loved her completely and instantly, and her limb differences meant nothing to us.

She was a very small baby despite being full-term, weighing only 4 lbs 9 oz at birth. She spent four days in the NICU to make sure she had no other complications which often come with limb differences. We found out that she has fibular hemimelia and congenital short femur. What that means is she has no fibula in her left leg and that femur is very short. When we brought her in for her 1 month well-baby visit, the doctor commented on the strange shape of her left leg, not just it's length but that the knee didn't connected properly. She sent us to an orthopedist, who prescribed her first brace. She wore that brace for 22 hours a day for four months to correct the placement and development of her leg.

At this point our bigger concern was that she wasn't growing. Though she was four months old, she weighed barely 6 pounds. The pediatrician had insisted for the first few months of her life that she because she wasn't growing in height, her lack of weight gain wasn't all that concerning. She was a healthy weight for a newborn. But she wasn't a newborn. At four months the pediatrician finally agreed that something needed to be done. She prescribed a high-calorie formula to be mixed with equal parts breast milk and given to Noelle every two hours. It did very little. At five months, she weighed in at 6 lb, 5 oz. We were referred to a geneticist, but before our appointment Noelle developed a horrible cough. She was hacking up mucous and struggling to breathe. That's when the pieces clicked together and we received the CF diagnosis.

Noelle began breathing treatments and taking 12 different pills every day. Cystic fibrosis was a devastating diagnosis, and my husband and I grieved the loss of a healthy-if-physically-different child. However, she has a relatively mild form of CF and it was brought under control fairly easily. In the end her limb differences became the bigger problem. When she outgrew her first brace, the orthotist designed a brace with a soft, weighted log like a sack of rice on the end that he hoped would mimic the balancing action of a baby's leg and allow her to learn to sit and crawl properly, and hopefully even encourage walking. I don't know if she would have learned to do those things without the brace, but she was crawling, sitting, and doing a kind of one-legged balancing act to reach higher objects by seven or eight months old. At ten months she was fitted for a combination brace/lifted shoe and told not to intervene until she showed signs of being ready to walk.

For months she crawled and crab-walked on three legs. Around sixteen or seventeen months she figured out that if she could balance on the right leg, she could use the brace/shoe to balance herself. At first we thought this was a good sign, an indicator of good things to come. But months went by and she didn't develop any new skills. At her second birthday party I watched as she stood to reach a toy on the shelf and then plopped onto her butt and crabwalked across the room. She was very mobile, but she wasn't walking. It was unfathomable to me. She had two legs, right? Lots of kids walk with a prosthetic and this was wayy simpler than that. Why wasn't she walking?

I am not proud of this next part of her story. I was angry and frustrated. I had let myself believe she would learn to walk just like every other kid, and that walking was the only solution, the only goal. After that party, I dragged her back to the orthopedist. I demanded to know why she wasn't walking, I insisted that she must have another limitation we didn't know about. He told me simply that she wasn't ready, and if it was meant to be, it would happen when it happened.

So I took her to a child psychologist, and basically screamed "MAKE MY KID WALK."

I am embarrassed to write that, Charlotte. It is now clear to me that, at two years old, Noelle was not ready to learn how to walk. She was navigating her world beautifully and developing normally in every other way. I hadn't realized just how much she had struggled to get to where she was then in terms of crawling and standing. I hadn't realized how hard she was already working. At that time, I refused to take no for an answer. After talking with Noelle, she asked to speak to me by myself. I had to come back a week later. That conversation opened my eyes. I finally accepted that Noelle was not walking now, and maybe not ever. If and when she was ready, she would figure it out.

Back in Action

Oh fall, as always you have brought us such joy, such healing.

I apologize for my extended absence; we have had a hard few months. Weeks ago I tried to write this post but I just couldn't get through it. I decided to publish it as-is so maybe you can understand why I was gone so long. When we finally got done with treatment for HUS and getting her tube fixed, she was sick and miserable I figured she was just healing and recovering and exhausted. When she developed a 101 fever, I figured she had picked up a virus. After a week, I was worried. After eight days, she had a seizure like I have never seen before. Normally her seizures are myoclonic, isolated to one hand or foot or facial muscle. I was standing in the kitchen making dinner or something when she suddenly toppled sideways on the couch from a sitting position. Then she collapsed off the couch and shook violently on the floor, groaning and and drooling. I rushed to her; she was unresponsive with open eyes. I called 911, but by the time the paramedics arrived she was herself again. They advised that it was probably a febrile (fever) seizure and left. After the second seizure of this magnitude, I made an appointment with the neurologist for a few days later. She had two more seizures before the appointment.

Neurology switched her to Keppra, which stopped the seizures but made her quiet and nauseous. She threw up a couple of times, she had a fever and her chest and throat were rubbed raw from coughing. And she often complained of "hurting, Mama." After looking up the side effects of Keppra I called the neurologist about twelve times before I finally got them to switch her to something else. The nasty side effects went away, but she was still complaining of a vague and occasionally excruciating pain.

We are masking her pain with a powerful prescription and trying to pin down a more definite source so we can get her a proper treatment. The long and the short of it is that we've had a rough summer, but it is now fall and as the blistering heat has faded away, so has Maisie's many woes, at least a bit. On the first day of fall, just a week ago, my doctor confirmed wonderful news.

I'm pregnant.

So that's nice.

A rough month

August has not been kind to my Maisie the Great. She's been getting progressively sicker since they we first came home from the hospital (kind of ironic.) After the nephrologist took her off all her medicine and she had to be rushed to the PICU for emergency respiratory failure, uncontrollable seizures, and severe pain. At first, we were able to control her seizures and her breathing long enough for her to get over HUS. She was doing really well for a few days, we took her home and then had the feeding tube fiasco and finally got home and were resting for, oh, five hours before she started seizing violently. These were not her normal seizures, just a few seconds long and/or isolated to a single hand/foot/facial muscle. These were full-body, tonic clonic or grand mal seizures. It was terrifying. She would pitch forward and shake from her head to her foot, foam at the mouth, her eyes would roll, and all I could do was hold her. This went on for four days. I called the epilepsy neurologist as soon as it became clear this wasn't some random, one-off thing, and she changed her medicine. We picked up the new prescription the next day, and it reduced the grand mal seizures but only to the extent that she is now constantly seizing in one hand, foot, eye, lip, cheek, something. The neurologist cannot see her because another patient is a state of emergency. His life is threatened, and our doctor needs to throw her whole weight behind this little boy. That's okay.

Maisie is in a lot of obvious pain. She cries almost constantly and has stopped speaking for the most part. As I write this my poor baby is slumped over my lap, wailing. I can do nothing for her. We don't know what causes her pain.