Kaci’s Story of Hope

Kaci Danielle Smith made her entrance into the world on December 19, 1994 at 6:00 a.m. Weighing 9 pounds 7 ounces, she was the biggest baby in the hospital. Although we didn’t know it then, that would be the last time she was the largest among her peers.

Shortly after her birth, she was taken to the neonatal intensive care unit. I remember looking at her and all of her perfection. I couldn’t understand why she was there. The doctors seemed a bit unsure as to why she was there too. They ran blood tests, took x-rays and EKGs, all of which were mostly normal. They complained that she did not seem eager to eat, but none of the tests revealed any true health concerns. When it was time for me to be released, the doctors talked about keeping Kaci longer, but could only say something was not right about her eating. Eventually they agreed to release her with me.

At one-week old Kaci stopped eating entirely. She just would not eat – not that day nor the next. The few ounces I would be able to force into her over the course of a day would come right back at me. It didn’t take long for us to end up right back where we started – in the hospital. Those first few hospital stays were our introduction to being “undiagnosed,” to having a child with “dysmorphic features,” a child who was “failing to thrive.”

The following year was a blur of tests, hospital stays, feeding tubes and SCALES. At 10-months old, with Kaci weighing just over 9 lbs. (remember she was 9 lbs. 7 oz. at birth), she underwent heart surgery to correct her dysplastic pulmonic stenosis. At the time it was a last ditch effort to save her. Nothing we did helped her to gain weight and having run out of options, her cardiologist suggested repairing her heart. It was clearly explained to us that this would probably change nothing.

It seemed to change something though. Within a few weeks Kaci seemed more alert, more interested in tasting things, and even a little stronger. At the time we thought that correcting her heart issue was the answer and that she would start growing and developing; she just had a rough start.

The geneticist didn’t agree. As he continued to watch Kaci miss milestone after milestone, and he continued to notice more dysmorphic features at each visit, he was certain that Kaci had an “unknown” genetic syndrome. He didn’t know which one, and he sure as heck didn’t seem like he could be bothered to find out, but he was sure she had one. Over time, as we took her to more appointments, therapists, and early interventions, I was pretty sure he was right.

It took almost seven years before we found CFC syndrome. By that time, Kaci was just starting kindergarten. I had long since resigned myself to the fact that Kaci had a syndrome, and spent most of my free time searching for its name. We had just had our yearly genetics appointment, and once again had been told that they did not “recognize” this syndrome. I very clearly remember the look on the geneticist’s face when I asked, “Do you at least know how to make her hair grow?” I had thought maybe it was a vitamin deficiency of sorts. He said, “You mean, you don’t cut it that way?” Seven years and we had never had this discussion. I always thought he knew. He took a closer look and said, “She doesn’t have eyebrows or body hair either”.

The geneticist said this was extremely rare. He knew I researched all kinds of syndromes, so he told me that if I found a syndrome where the hair doesn’t grow, I found the syndrome that Kaci has. So I searched this, and I found a picture of a child that looked amazingly like Kaci. The child had Cardiofaciocutaneous syndrome and I was certain, so did mine.

I don’t know how I would have felt if we had a diagnosis at birth, or at a year; but after 7 years, I was ecstatic. My joy was not because Kaci has this syndrome, but because there was an explanation for the health issues and delays. More importantly we learned that we were no longer alone!

We made contact with Brenda Conger and she put us in touch with Judy Doyle, a CFC mom who lived within an hour from us. We made plans to attend our first conference. WE READ. We read everything we could get our hands on but there wasn’t a lot known about CFC. The one thing we wanted to know more than anything else was what does the future hold. What can we expect? We had an explanation for the past – the feeding issues, heart troubles, developmental delays, failure to thrive and even the hair growth. But what about the future?
Fourteen years ago there wasn’t a lot of general information out there regarding CFC; and there was even less information about kids older than Kaci. Since then, however, amazing progress has been made in the diagnosis of CFC and the documentation available regarding CFC and its causes and effects. Still, there is little written about adults with CFC or information about what adulthood looks like for people with CFC.

IMG_0255We are in the future now – I no longer wonder what Kaci will be like as an adult, as we are here. At 21, Kaci enjoys relatively good health, although she does have many complaints about joint pain (unknown cause, of course). Kaci has proudly graduated high school, and although testing would say differently, in many ways she is your typical 21-year old person. Her favorite activities include texting, shopping and going out for a fun outing that she has planned (she hates when we make the plans, apparently we don’t know how to have fun).

She enjoys as much independence as I can allow myself to give her. That includes shopping by herself, spending some time alone at home, and taking the city bus to and from work (curb to curb). She gets embarrassed by me, frustrated with me, and downright tired of me telling her what to do. Yes, she is very typical!
In some ways, though, she is not as typical. For example, not many 21 year olds rush to greet you with a huge hug when you come home from work, or hold your hand and enjoy time spent coloring with you. Luckily, I enjoy every one of these non-typical behaviors.
Looking back, I am glad there was no documentation telling me what “the future holds.” We have enjoyed writing Kaci’s future one day at a time and we are anxious to see what the next chapter reveals.