Klippel-Feil is rare, estimated to occur in 1 in about 45,000 births worldwide. No accurate numbers are known, because there haven't been any studies to determine how often it occurs. Janie found out one of her babies was in trouble before he was born, so she and her husband had a heads up that there might be medical interventions for Jon, but not exactly what he'd need.
Klippel-Feil causes a myriad of issues, one is 'blocking' of vertabrae, another is scoliosis. Jon has both. There are neurological, cardiac, ear/nose/throat and urogenital problems. Like diseases like Cystic Fibrosis and Down Syndrome, those who have Klippel-Feil face a lifetime with a lot of medical interventions, mainly for the scoliosis and cardiac issues. Also similar to the two disorders I named, a person diagnosed with Klippel-Feil is expected to have a shorter lifespan than others.
How about Janie tells you a little bit about Jon, and I'll come back, okay?
I was pregnant with triplets and had multiple problems during the pregnancy so I needed weekly ultrasound monitoring and check ups. At 22 weeks, the doctors noticed that there was something wrong with Baby A (now known as Jon) - his spine didn't look right, and they could not find his kidneys. They assumed that there was a genetic defect but didn't know what. They told me to expect that Baby A (Jon) wouldn't survive the birth for various reasons.
It was a very rough time. Lots of prayers and tears. We were very frightened about what was going to happen.
The triplets were delivered via c-section at 32 weeks. Jon was blue and not breathing. The babies were taken to ICU and Jon was intubated because they said that his throat wasn't letting him breathe for some reason, and his right ear looked like it was glued to his right shoulder. His body was different from a normal baby. It looked like someone cut a normal sized baby in half and glued one half to a smaller sized baby. He had facial asymmetry, hip dysplasia, and hypoplasia of the upper extremities.
They ran tons of tests to see what was going on. He had one kidney on the left side and nothing on the right. He had severe torticollis on the right side of his neck and had a shoulder blade deformity called Sprengle's deformity where a bone connects the shoulder blade to the spine, reducing the ability to move the arm and shoulder.
They later found out that he was missing several cervical vertebrae on the right side causing his head to tilt to the right. There were fused cervical segments, cracks in vertebrae down his spine, and he was diagnosed with congential scoliosis. He had his hearing tested and it came back normal.
They classified his disorder as Klippel-Feil Syndrome II. His case was transferred from Primary Children's Medical Center to Shriners' Hospital in Salt Lake City because Shriners' hospitals deal with bone deformities. I felt that Jon would have a better chance of getting the right care for this particular bone deformity.
They wanted to do surgery to correct the torticollis which I refused. I'm not a big fan of surgery and asked for physical and occupational therapy which they agreed to. From 6 months to 2 years, he went to therapy twice a week without fail.
At 2 years, he underwent surgery to remove the bone from the shoulder blade, the doctors fused two vertebrae together to add strength to his neck, cut his right collarbone, and brought his shoulder down. It was a rough surgery and he refused to let me hold him for a while because I think he blamed me for putting him in this situation. Six months after surgery, he went right back to therapy twice a week.
At home, I had to make him pick up things with his right hand, did "wheelbarrow" with him where one picks up the legs of a second person and make them walk on their hands, bought an indoor bar and installed it in a doorway so I could get him to do a couple of pull ups or swing to stretch out his shoulders. Oh, he hated doing them so I did a lot of bribery and pleading.
At school, Jon was always last in the line for his classes for fear that some child may shove him whether on purpose or accidentally, damaging his fragile neck, could not play dodge ball or other contact sports, and could not sit on the floor with his class.
A year ago, at the age of 13, his congential scoliosis got progressively worse and I felt that we should try another options and use surgery as the last resort. They fitted him with a brace and I was very hopeful that it would work by holding his spine together during his growth period but it wasn't to be.
His scoliosis is now over 50% of the curve and is putting pressure on his heart and lungs. His KF disorder makes it particularly worriesome because of the cracks and fused verberates in his spine. I've been doing tons of research and sadly there isn't very much information out there.
I have spoken with two parents with KF children online and their experiences is similar to mine: Lack of understanding the disorder and treating the symptoms hoping that the treatments doesn't make KF syndrome worse. There is no online support for KF patients which frustrates me to no end. I checked FB and it only had two pages with little or no information on it.
Jon is a straight A student and is on honor program. He plays the trombone in a jazz band at his school and loves playing video games which was a good thing in his case because it forced him to use his right hand and make his right eye focus better.
I think the worst part of Janie telling me and other friends about Jon's situation is that she couldn't find information about Klippel-Feil online. What little she does find is either in Italian or Spanish and she muddles her way through it. The other day, she tried having a conversation with another mom in Italy and it was hard, both women trying to understand each other, knowing that there is so little out there about this syndrome.
As for me, I have resources. USF has a medical school, which means that not only do I have an excellent library available to me, I have access to many medical journals. It has helped me in researching about GameTeen's Aspergers, and I went onto the library database the other night in an effort to find things for Janie, so she could become more informed when discussing treatment options for Jon with his doctors.
In total, I found about three dozen articles, about a dozen only mention KF peripherally, and most address the difficulties in anesthetizing these patients in surgery because of the neck and spine issues. What articles I could find have been downloaded and sent to Janie, and I'll keep an eye out.
When I followed up for my surgery yesterday, I mentioned KF to my nurse practitioner. The advantages to a teaching hospital (and doctors who teach at my University) is that you get researchers and cutting edge ideas. It ends up the neurosurgeon I was originally directed to has actually done scoliosis surgery for KF patients. The Shriner's here in Tampa has a doctor who has co-authored some of the research I've found online.
My nurse practitioner explained the reason why a lot of that research is in Spanish and Italian-the limitations of our medical system in the US sometimes prevent doctors from trying treatments outside the accepted protocols. In Columbia, the doctor I mentioned did a residency on difficult neurological cases, then he came to the US and did a second residency. As a result, he's seen a little bit more (and it may explain why he also does Chiari surgery, too.) Outside this country, there is work being done-not a lot, but more than here.
The thing is, there are plenty of kids with this diagnosis here in the US. Those kids have moms and dads who want answers, who want to fix things, to give their kids a chance at something resembling normal-but they don't know what to expect, what is good or what is bad. These parents want to find each other, to communicate, to have support-but there isn't anything for them.
My hope is that by shedding light on this, someone will Google 'Klippel-Feil syndrome' after leaving a doctors office, or a doctor will search, hoping to find some more information and find this and contact me. I can put them in touch with Janie and we can get that support network together-and maybe, we can get some answers that can help the kids with Klippel-Feil.
If you know something, please email me. If you need to talk or be an understanding ear, please email me-and I will get you in touch with Janie.