Klippel Feil Syndrome

We haven't mentioned much about Klippel Feil in this blog but it is something Kyle lives with as well as Chiari Malformation.

Klippel Feil is an uncommon birth defect. We were told it is not genetic but likely caused by a vascular problem during development. We were told that during my pregnancy (around 6-8 weeks gestation) the blood supply to Kyle got cut off, which could have been for a split second, and it effected his spine, his heart, and his kidneys (for all we know). Of course, if you google Klippel Feil you may find other reasons for it but this is what we were told by two genetic doctors about 12 years ago.

So, before Kyle turned 1 year old we found out Kyle has Klippel Feil Syndrome and his related birth defects included fusion in his cervical vertebrae (absent arch at c4 and deformed body of c3), abnormal ribs, a heart murmur, and one kidney. It wasn't until Kyle was almost 12 years old we found out he has Chiari Malformation.

Kyle is very smart and all boy. He was very, very active until he was 9 years old when he started to slow down and I believe that is when Chiari started effecting him.

How we first noticed something was wrong with Kyle was the obvious issues of short neck, his head tilt to one side, and he could not turn his head (we noticed his shoulders turned with his head.) His doctor though it might be torticollis so he had Kyle in physical therapy to "stretch" his neck. A big no-no once we found out it was a bone issue. My suggestion to parents is to have x-rays done before any physical therapy.

Kyle totally outgrew the tilting of his head and I can't really say why or how but he did. Although, when he is sick or extremely tired I notice a slight tilt in his head. What people notice the most is they think Kyle is shrugging his shoulders upwards. Which of course he's not but because his neck is short it does appear that way. His shoulders roll forward more than they should and looking at his back one shoulder blade is higher than the other. Recently we noticed his upper rib on the right side is protruding out a bit. 

We were told there are a few precautions with Klippel Feil such as no contact sports; avoid extreme flexion, extension and rotation of the neck. Although Kyle tries to defy these rules quite often.

My other main concern for Kyle is his single kidney. Kyle has to watch what he eats and drinks to keep his kidney healthy. He has always had a higher level than normal of creatinine and blood urea nitrogen (BUN) in his blood. His kidney specialist watches his levels closely to make sure those levels stay within the norm for him.

Kyle has not had any surgery for Klippel Feil. Although his Chiari surgery did have to take his Klippel Feil into consideration which made his decompression surgery difficult and slightly different from other people with Chiari.

I love my Kyle with all my heart. I hate that he has many health issues, but he is a very strong young man. Not to mention he is fun to be with and a pleasure to have deep conversations with; ask anyone who knows him! ;)