Klippel-Feil Syndrome Support Group

My son was born June 2, 2010 at 26wks gestation. In June of this year he was diagnosed with Klippel-Feil Syndrome. He has an absent kidney, hemivertebrae L3, and C1 and C2 are fused, with a partially fused C2-C3. Overall seems healthy. So far all the tests for his heart has been normal. He is reaching milestones like he should. Eyes, and hearing seem fine. Is crawling, walking around furniture, healthy eater/nurser. We just don't know a lot about KFS as most doctor's do not as well. Feel a little helpless, questions that I should be asking but don't really know what to ask. Looking for any help, so that I can be the best advocate for my son, and give him the best life possible without missing something that could harm him.

Post edited by: lulu1978, at: 02/17/2012 06:58 AM

Dear Lulu- thanks for posting. It's wonderful to have you here. Let me first say I am so happy that your son is doing well; and that you are watching everything closely. He must have a great team of doctors to even know the importance of assessing kidneys and heart for congenital defects. Many KFS'ers don't know that can be a problem throughout much of their life.

There are 2 great ways to learn about KFS: and the good news is, you can google them. Dr. Dino Samartzis and Dr. Raymond Clarke are the 2 leading (and probably only) KFS researchers in the field. Dino is an American who works in Hong Kong, and Raymond is an Australia.

YOu can click on the "articles" tab of this forum to find some excellent articles on KFS also. And of course, we are all here everyday to support and answer the questions that we can answer.

With this defect, it is unique in some ways to every person, but common enough in the basic neuro spine concerns. Other things may change over time, so it is hard to get all the answers at once. The best advice we can give is something you probably already know- protect his neck from any trauma..even minor trauma, because an injury could change his life forever. That might be your toughest job as he grows and wants to do "boy" things. Please turn to us anytime-and once again, we are so happy to have you in the group. Best wishes, Lisa

Thank You for responding. Of course I have a lot to learn about this syndrome. I just worry about his future, we have been told that his case is not that severe. However he has an absent kidney, hemivertebrae, and the cervical fusion. As a mom I consider that severe. All the doctor's that see him have very little experience with KFS, so they really can't help other than treating his symptoms.

He had an echo and EKG both showed that his heart is fine. My question is with KFS, is it something that needs to be monitored his entire life? Or once you get a good echo and EKG you don't need to worry about his heart?

I am a little skeptical on the doctor's in the NIC unit when he was born, we did not find out anything that was wrong with him until the day he was discharged at 34wks. My husband and I read thru the discharge paperwork where we noticed that it said something was noted on his spine. The doctor first said it was probably a type error but would go back and look at the radiologist report. Long story short (showed hemivertebrae) which then they did echo and EKG (heart was fine), ultrasound of his kidneys (showed he was missing his left kidney)

Fast forward a year find out he has a partial fusion in his neck C2-C3. I did some research and came up with KFS, and I called our genetics doctor asked if he could have KFS, a few months later he was diagnosed with it.

The entire time he was in the hospital I had a feeling something was wrong I would ask the doctor's to look at the way he moved, his spine looked weird to me but I didn't know how to explain what I was looking at.

We have been told that what he has is just that. That if he does not have heart issues then he won't develop them later in life.

Thank you for the names of the doctor's I will look into it.

Lisa

Hi Lisa- Looks like your son was diagnosed in much the same way as many others with KFS- you diagnosed him yourself based on the signs and symptoms of the condition. That's typical. My dau was diagnosed by my husband (but not til she was 22'ish)-after a lifetime of problems. You're right that most doctors disregard KFS as a non-serious condition, but we know that isn't true.

To respond to your question about organ defects; specifically heart and kidney: if the heart appears fine after the tests, then it probably is . Kidneys are "probably" okay too (meaning they have normal structure). In our situation, that wasn't how it turned out. As a child, kidney function tests (only blood work) were always normal, leading us to believe that there were no structural problems. She developed kidney stones when she was a child. She had 2 failed surgeries to remove the stones; then we learned that her right kidney has a rare (but of course!) defect called a calyceal diverticulum (aka tic) which protects the stone. Eventually, it could destroy her kidney, but in order to remove it, they would have to remove half of her kidney. so, it's a toss up on what to do.

Her left kidney has a stenosed (narrowed) tubule (30%) from the kidney to the bladder . If that continues to narrow, urine could backflow into the kidney and destroy it. We didn't learn about any of these problems til she was 24 years old.

Aside from structural anomolies, there can also be problems with function. Kidney and bladder function should be assessed over time for anyone with spinal cord damage because they sometimes have problems with complete emptying of the bladder, leaving behind a residual amount which can either cause chronic urinary tract infections, or back flow that goes into the kidneys . Over time, that could also cause kidney damage.

Most likely, your son will not have to deal with any of these issues, but with KFS there are risks that parents should be aware of. Prevention is paramount throughout his life. I wish I had known more when my daughter was young. Best wishes, lisa

Lisa,

Welcome to our group. You are on the right track being aware and looking into things on behalf of your son. I did not learn I have KFS until I was 38, I am 40 now. I began having problems at 38 that have changed my daily life due to pain and sensations, numbness in head and face, and muscle spasms from waste up. There is a good article as Lisa mentioned that I posted when Lisa and I tracked it down. Click under the Articles tab above.

As Lisa mentioned, every case of KFS is different. Different fusions, and anomolies, and symptoms...

I always find it truly odd that these things are shown in paperwork but not told to the patient, or in your case, when your son was just born. That kind of shows us how they know so little of KFS that they disregard it, but you are right to have concern when he is missing a kidney and has the fusions he has. I am so glad to hear he is happy and doing wonderfully...

You are always welcome to ask questions and just vent... we are here, and we get it!

Best,

Rosie

LOL I said waste I meant *waist*.

Thank you Rosie, it is just so frustrating that no one knows anything about this. You said you found out about this with your muscle spasms? Do you have any of the fusions, hemivertbraes, or absent kidney's or kidney issues. Any other family members with it? We have discovered that my husband's uncle has KFS, ( well not diagnosed) but he has all of the same issues as our son, and his physical appearance you can see it.

This site is amazing to learn more about KFS. Thanks again, Lisa-

Klippel Feil is the fusion of one or more cervical vertebre. Thats the starting point for the disease as far as diagnosis. I have always had a low hairline and I don't have the longest neck...when we look back at photo's there are times I see it now. I have an abnormal curve in my cervical spine, deformed C1, and C2-C4 are fused. At 38 I began having multiple symptoms/sensations/pain that we believe are caused from spinal stenosis which is evident at the fusion areas and T1. I also was born with limb issues... both of my knees are deformed, but somehow my body adapted and I can walk with a normal gait and even ran in gym classes, which is insane when I think back on it. I had 4 major knee surgeries from 5th grade through 12th grade. I had my gallbladder out at 19 due to stones. Stones seem to be common with KFS from what I have read/heard. Because many Dr's disregard KFS as anything more than fusions in the neck, as an adult I have found it impossible to find a Dr who is willing to do the scans on my organs that have been mentioned. I am currently having stomach problems.

Also it is said that there are people who have KFS who never have symptoms who may go their whole life not knowing. I am not aware of anyone in my family having KFS.

I have not had any kidney issues, but again nobody has checked any of my organs.. so I really don't know what is in there. Lisa we are glad you found this site, and yes it is very hard to have this, and not have any specialists... just keep taking each piece separately as you are. And again, feel free to ask here... we do have a good knowledgeable group!