Kenny-Caffey Syndrome
I've realized if someone only knew me through what I wrote on this blog, I would appear to be a person in dire straights. I'm not, I promise. But I don't need an outlet to write about my exceedingly boring day-to-day life. For the most part, we live our lives just like everyone else. Will and I go to work, come home, take turns cooking and entertaining Eli, put him to bed, collapse on the couch and watch The Great British Baking Show while we talk about how we wish Mary Berry was our grandmother, go to bed, repeat. We send each other pictures of Eli when he's being especially cute, and talk about how we have the cutest baby in the world. We're THOSE people now. We're happy, most days. I get home from work and I lay on the floor beside him, making him laugh by pretending to tickle him. I delight in his delight. This is off topic, but I just felt the need to put it out there. Now, on topic.
We have a diagnosis. This is what we've been waiting on for 13 months. I know our wait wasn't nearly as long as some. Some people NEVER receive a diagnosis, through no fault of their own. But for someone as impatient as me, 13 months was a lifetime. I am proud of myself for pushing so hard, I don't think we would have a diagnosis yet if it wasn't for my tenacity. I really hadn't thought about what it would be like if we received a diagnosis from the exome sequencing. 75% of people who do the testing don't receive an answer from it. In my mind, that was the worst-case, but also most likely, scenario. So I prepared myself to never know, and I didn't dare hope for answers. So now that we have one...what next?
When my phone rang on March 8th, it was a Dallas number I didn't recognize. I almost always answer these because most of the time it's a doctors office. His genetic counselor said hello, and I immediately started crying. I knew she was calling me to tell me she had his results back, and I think all the emotions of the past year just kind of hit me and I knew things were about to change. I wasn't crying because I was overly sad or overly happy, just...finally. She told me his results did come back positive, and he did receive a diagnosis. More tears. She told me it was Kenny-Caffey Syndrome, type 2. Milder than type 1. I told her I had read about Kenny-Caffey during my research, but I couldn't remember details, so she went through the symptoms with me. Obviously, his height will be affected. Height typically ranges from 48 to 59 inches. Vision problems are common, but that's no big deal. Transient hypoparathyroidism, which is what sent Eli to the NICU at two weeks old. This is the biggest worry for me. We are very lucky in that Eli's calcium levels are easily controlled, but it's also easy for that to change quickly. He will have to have various blood tests every few months for the rest of his life, most likely, and in times of illness or stress he'll have to be even more careful. Dental issues, but again, I'm not terribly worried about those yet (it helps to have a best friend who is specializing in pediatric dentistry...little does she know I've just been playing the long con for cheap dental work...)
One symptom that doesn't make sense to me is the craniosynostosis. Craniosynostosis occurs when the sutures of the skull fuse too early. But a symptom of Kenny-Caffey (hereby referred to as KCS2) is delayed closure of the sutures. That's why I ruled this disease out when I read about it. Oddly enough, now that Eli has had the surgery and his skull is growing back where it was removed, it's growing back at a much slower rate than normal. Who knows.
The other reason I mentally ruled out KCS2 when I first read about it was the rarity. Fewer than 60 people ever reported? No way...the odds were too astronomical. We had discussed the rarity issue...that if none of the doctors had any idea and we couldn't find anything online, whatever he had was probably pretty rare. Maybe he would even be the first incidence reported of his symptoms in conjunction. But thinking about it abstractly and realizing the odds...it's hard to fathom. I mean, 1 in 120 million? You're more likely to become a saint, to have identical quadruplets, to die in a vending machine accident...Approximately one child born per year in the ENTIRE world will be born with KCS2. It's unimaginable.
Fortunately, he isn't the only one, and I've already started connecting with parents who have kids with KCS2. For the most part, receiving a diagnosis changed nothing. We will continue to live our lives exactly how we have been...go to work, go to the doctor, come home, etc. But at the same time, everything is different. At first, I was sad because I was still holding onto a tiny bit of hope that a doctor would come tell us this was all a mistake, and that hope is gone now. But it's been replaced by hope for the future when I see other ADORABLE kids with KCS2 living life and charming everyone with their personality and intelligence and cuteness, and I realize I'm looking at those kids, then looking at Eli and thinking, "He will be okay. He will be better than okay."
I’ll end with a quote from Steel Magnolias that’s been on my mind a lot lately. "I'd rather have 30 minutes of wonderful than a lifetime of nothing special." Hopefully with Eli I’ll have a very long lifetime of wonderful.
We have a diagnosis. This is what we've been waiting on for 13 months. I know our wait wasn't nearly as long as some. Some people NEVER receive a diagnosis, through no fault of their own. But for someone as impatient as me, 13 months was a lifetime. I am proud of myself for pushing so hard, I don't think we would have a diagnosis yet if it wasn't for my tenacity. I really hadn't thought about what it would be like if we received a diagnosis from the exome sequencing. 75% of people who do the testing don't receive an answer from it. In my mind, that was the worst-case, but also most likely, scenario. So I prepared myself to never know, and I didn't dare hope for answers. So now that we have one...what next?
When my phone rang on March 8th, it was a Dallas number I didn't recognize. I almost always answer these because most of the time it's a doctors office. His genetic counselor said hello, and I immediately started crying. I knew she was calling me to tell me she had his results back, and I think all the emotions of the past year just kind of hit me and I knew things were about to change. I wasn't crying because I was overly sad or overly happy, just...finally. She told me his results did come back positive, and he did receive a diagnosis. More tears. She told me it was Kenny-Caffey Syndrome, type 2. Milder than type 1. I told her I had read about Kenny-Caffey during my research, but I couldn't remember details, so she went through the symptoms with me. Obviously, his height will be affected. Height typically ranges from 48 to 59 inches. Vision problems are common, but that's no big deal. Transient hypoparathyroidism, which is what sent Eli to the NICU at two weeks old. This is the biggest worry for me. We are very lucky in that Eli's calcium levels are easily controlled, but it's also easy for that to change quickly. He will have to have various blood tests every few months for the rest of his life, most likely, and in times of illness or stress he'll have to be even more careful. Dental issues, but again, I'm not terribly worried about those yet (it helps to have a best friend who is specializing in pediatric dentistry...little does she know I've just been playing the long con for cheap dental work...)
One symptom that doesn't make sense to me is the craniosynostosis. Craniosynostosis occurs when the sutures of the skull fuse too early. But a symptom of Kenny-Caffey (hereby referred to as KCS2) is delayed closure of the sutures. That's why I ruled this disease out when I read about it. Oddly enough, now that Eli has had the surgery and his skull is growing back where it was removed, it's growing back at a much slower rate than normal. Who knows.
The other reason I mentally ruled out KCS2 when I first read about it was the rarity. Fewer than 60 people ever reported? No way...the odds were too astronomical. We had discussed the rarity issue...that if none of the doctors had any idea and we couldn't find anything online, whatever he had was probably pretty rare. Maybe he would even be the first incidence reported of his symptoms in conjunction. But thinking about it abstractly and realizing the odds...it's hard to fathom. I mean, 1 in 120 million? You're more likely to become a saint, to have identical quadruplets, to die in a vending machine accident...Approximately one child born per year in the ENTIRE world will be born with KCS2. It's unimaginable.
Fortunately, he isn't the only one, and I've already started connecting with parents who have kids with KCS2. For the most part, receiving a diagnosis changed nothing. We will continue to live our lives exactly how we have been...go to work, go to the doctor, come home, etc. But at the same time, everything is different. At first, I was sad because I was still holding onto a tiny bit of hope that a doctor would come tell us this was all a mistake, and that hope is gone now. But it's been replaced by hope for the future when I see other ADORABLE kids with KCS2 living life and charming everyone with their personality and intelligence and cuteness, and I realize I'm looking at those kids, then looking at Eli and thinking, "He will be okay. He will be better than okay."
I’ll end with a quote from Steel Magnolias that’s been on my mind a lot lately. "I'd rather have 30 minutes of wonderful than a lifetime of nothing special." Hopefully with Eli I’ll have a very long lifetime of wonderful.
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| Waiting to meet (real) Easter bunnies with my mom and my cousin |
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