Discussions By Condition: Congenital conditions

New Member with Hereditary KLIPPEL-FEIL SYNDROME (KFS)

Posted In: Congenital conditions 25 Replies
  • Posted By: KFS Gal
  • May 17, 2007
  • 05:46 PM

Hello,

I am new to this forum and would just like to introduce myself. But 1st, I would like to share a link to an online support group for people with Klippel-Feil Syndrome (KFS Circle of Friends). This is a great group of people that are willing to share their experiences, and help with any questions one may have pertaining to KFS. It's wonderful to be able to talk to other people who have the same, very rare, condition you may be dealing with:

http://health.groups.yahoo.com/group/O-Circle-O/


I am a 44 year old female with a congenital condition known as Klippel-Feil Syndrome (KFS). My particular case of KFS is hereditary. My father had KFS but he was never diagnosed prior to his death in 2001. He had cervical vertebral fusion only at one level, C-3/C-4. He had several other anomalies that are associated with KFS but apparently none of his doctors were familiar with KFS!

I diagnosed myself with KFS in August 2005 (later confirmed by doctors). I have always had pain in the area of my neck and shoulders. I also had pain in my feet and legs. My pediatrician said there was nothing wrong with me, just growing pains. I grew up thinking that the pains I dealt with everyday were just normal. They did become normal for me.

In 1998, routine xrays (for arthritis related pain) showed that I had cervical vertebral fusion at 2 levels, C2/C3 & C4/C5. My rheumatologist told me that it was just the way I was born, no big deal. She also told me that my right scapula was deteriorating due to my arthritis.

In 2005, I had more xrays due to severe neck pain. These xrays revealed that I had bilateral cervical ribs, and severe cervical arthritis due to hypermobility at the unfused joint interspaces above and below the levels of congenital fusion. The doctor told me that Cervical Ribs were pretty rare.

When I got back home I did a google search on CERVICAL RIBS and FUSED CERVICAL VERTEBRAE. This search returned many articles related to Klippel-Feil Syndrome. After reading many of the symptoms of KFS I realized that I had this congenital condition. I then called my doctor to discuss it with him. He had never heard of it before and suggested that I contact a specialist at Emory University or somewhere that would know more about it. That was almost 2 years ago. I have been to several doctors since then but have found none that are familiar with KFS and it's anomalies!

I have done tons & tons of research on my own. I feel that I am quite the EXPERT on KFS (hahaha). I have printed out what seems like millions of articles so that I can read them while sitting in a comfortable position. It is hard for me to sit in a regular chair anylonger, especially at a computer. I usually have to sit in a recliner with pillows supporting my arms, etc. It is very difficult to hold my head up without support.

I have never had even one doctor give me any information regarding KFS. I have always had to give the doctors information on it. I print a copy of the articles explaining about KFS and give to each doctor that I see. This is usually their first encounter with KFS.

I also have Thoracic Outlet Syndrome (Arterial compression in the Brachial Plexus area)

I also believe that I have Sprengel's Shoulder. When my rheumatologist mentioned (in 1998) that my right scapula was deteriorating due to arthritis, I believe what she actually saw was an underdeveloped scapula which seems to be common with KFS. Much of my worst pain has always been in the area of my right scapula.

I know it seems crazy, but just yesterday, I really noticed how much higher my right shoulder is than my left. I put on a pair on dangling earrings and was looking in the mirror. The right earring was touching my shoulder; the left (by far!) was not.

Upon closer inspection I could see that there is about 1 1/2 inches of space between my right ear and shoulder. There is about 4 or more inches of space between my left ear and shoulder! WHY HAVEN'T I NOTICED THIS BEFORE?? :confused:

I am now comparing everything on the right side of my body to the left.
There ARE differences........:eek:

I have always known that my left foot is 1 complete size bigger than my right.

One of my MRI reports shows that the right side of my C7 transverse process is higher than the left side.

My first thoracic rib is abnormal on both sides, especially the right. I have a very short C-Loop, as my doctor calls it.

It also seems that my body wants to grow extra bone all over the place, like in my knees (kinda pointed looking things??). Also, my dad always told me I had a thick skull. Little did he know.......My skull is abnormally THICK! It looks like it is about an inch or so thick. There is actually evidence of a brain in there, but it looks pretty crowded, especially the cerebellum. My posterior fossa (lower back part of the skull) is kind of small & mis-shaped. It looks like there would be no room for Cerebral Spinal Fluid to circulate. (more things for me to inquire about)

Anyway, I hope some of this information may be of help to someone. These forums are a wonderful way to to give and receive helpful information...........you walk away knowing you are not the only one!

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25 Replies:

  • Hi KFS Gal, I am 47 years old, female, and I have KFS, Sprengel's shoulder since I was born. I think my condition was so servere that my family doctor did not recommend to my parents to allow me having any surgerical procedure(up to now, I still wonder if that was the right decision). I hope you will understand my English. Because English is my secondary language. My neck is extremely short(most vertibres fused together),left scapular with fusion of the left 1st rib medially and also have fusion of the upper dorsal spine. When I was 21 year old, I went to see a specialist and he told me that surgerical procedure might correct the position of my left shoulder but the chance of sucess was 50%. If it failed, I might end up in a wheelchair. He also told me that because of the fusion of the vertibres, the space allowed nerves passing through was so narrow that it would cause problem when I was getting older. One day I might lose all my mobility. Therefore, I took my chance not to have surgery. In the first forty years of my life, it did not really bother me as such, except my appearance different from others, having left shoulder pain from time to time, restricted movement of neck and left arm. However, after age of 40, I started develop TMJ, my neck and shoulder pain increased, as well as my lower back pain. Then, I know that it is because of my KFS and Sprengel deformity causing all the problems. I have pain all the time and I am used to it. But the degree of pain and discomfort increase everyday. I don't know how long I will live but I want to live a happy life and healthy life and do not want to become someone's burden. Samtang
    Anonymous 42789 Replies Flag this Response
  • Hi KFS Gal, I am 47 years old, female, and I have KFS, Sprengel's shoulder since I was born. I think my condition was so servere that my family doctor did not recommend to my parents to allow me having any surgerical procedure(up to now, I still wonder if that was the right decision). I hope you will understand my English. Because English is my secondary language. My neck is extremely short(most vertibres fused together),left scapular with fusion of the left 1st rib medially and also have fusion of the upper dorsal spine. When I was 21 year old, I went to see a specialist and he told me that surgerical procedure might correct the position of my left shoulder but the chance of sucess was 50%. If it failed, I might end up in a wheelchair. He also told me that because of the fusion of the vertibres, the space allowed nerves passing through was so narrow that it would cause problem when I was getting older. One day I might lose all my mobility. Therefore, I took my chance not to have surgery. In the first forty years of my life, it did not really bother me as such, except my appearance different from others, having left shoulder pain from time to time, restricted movement of neck and left arm. However, after age of 40, I started develop TMJ, my neck and shoulder pain increased, as well as my lower back pain. Then, I know that it is because of my KFS and Sprengel deformity causing all the problems. I have pain all the time and I am used to it. But the degree of pain and discomfort increase everyday. I don't know how long I will live but I want to live a happy life and healthy life and do not want to become someone's burden. Samtang
    samtang 1 Replies Flag this Response
  • Thanks for sharing your experience. I also am self diagnosed KFS, finding that the doctors i've seen about my symptoms have never heard of this. My C1 and C2 are fused along with the C6 and C7 so i have limited motion in my neck. I was born with only one kidney, one ovary, one tube and 1/2 sized uterus. All anomalies associated with KFS from what i have read. I am considering seeing a neurologist but not sure if that is the kind of specialist i need. I'm really not sure what other kind of specialist to see. I have been to an orthopedic doctor who told me that the day would come when i would need surgery. Considering the delicate nature of the nervous system, i would think it best to be done by a neurosurgeon. What i'm really looking for is a doctor with another alternative to surgery. I have been putting this off for a couple of years now but i'm beginning to have trouble that i can't ignore....dizziness, numbing fingers, and pain in my neck. You mentioned in your article a specialist at Emory, could you please let me know what kind of specialist he/she is and what the name is. Your help is much appreciated.
    Anonymous 42789 Replies Flag this Response
  • My daughter has klippel feil syndrome also. We are also in Georgia, just north east of Atlanta. She has several fusions, hemi-vertebrae, hearing loss, bladder reflux, brown's syndrome, etc.. She is a great kid! Email if you would like. AvonByShelly@gmail.com
    Anonymous 42789 Replies
    • January 6, 2009
    • 05:01 AM
    • 0
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  • Hi, i'm 26 and was diagnosed since birth with KFS. since it's listed in the 1000 rarest diseases, it's no wonder few people know about it. everywhere i go it's the same reaction, i learned to spell it as soon as i could readin my case, i believe i do have sprengel shoulder but i was actually told that my clavicle was fused to my scapula when i was born but unfused on its own with time. and i can't lift my left arm above my head. i was also born with syndactyly of my left thumb and index, but since my thumb couldn't move, they decided to cut it when i was 2 and used the bones to fix my right index that was 90degrees crooked. when i was 6 they twisted my left index to turn it to a thumb so i could use my left hand. i also have twisted ear canal so i don't hear well with my left ear. and i have a webbed neck (classic of KFS). in the spine region, i have a C-shaped cyphoscoliosis. when i was born, 3 or 4 of my vertebraes were fused on one side, so they thought of unfusing it but when i had my surgery at 11, they found out it was impossible so they just fused the other side so my back wouldn't grow crooked. so i do have hypermotility in my lower unfused vertebraes which brings lots of pain. the only thing that helps out is a good osteopath that relaxes all the tense muscles in that area once a month. add to it some exercices that involves the belly region (belly dance for example :) and yoga!the cervical discs in the neck are not completely fused but 2 on one side and 3 on the other are gripped together so i can only turn my neck 45degrees on one side and i believe 20 degrees on the other or something like that. but you know, i adapted to be able to see in my dead angles. probably some other small stuff i forget like my left leg is half an inch shorter than my right one, my left arm an inch shorter than my right one and i'm 4'9 so i'm very small :Palthough, there was this thought that,s been in my mind for a while, is since no one in my family had it, and they say it's congenital... is it hereditary? does anyone know if there's a way to find out? they say i have a very light version of KFS so i don't know...if anyone wants a good place, for kids, i went to Shriners Hospital. the greatest! they were so good to me, and followed me till i was 21. it's technically for amputed kids, but i was missing a finger, so maybe that's why i got in.... but it's a good place to check out!i do recommend surgery though, i think it was the best decision my parents took for me. but sometimes surgeries are good, sometimes they aren't. you really have to think it through... if it's light it's not necessary. they measured the degrees of my scoliosis from 6 to 11 and it got worse growing up. that is the reason i had surgery. and after surgery it actually got a little better!!! which was actually surprising because the goal was only to maintain it. but it is a very dangerous surgery since you're right in the nerves. that's maybe why they took 6 hours. i strongly suggest shriners for that and they're a little bit everywhere... http://www.shrinershq.org/Shrine/any questions or input email me : africanlotus@gmail.com
    Anonymous 42789 Replies
    • February 2, 2009
    • 05:41 AM
    • 0
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  • Wow, this is incredible I had no idea there were forums on KFS. When I was born the doctors noticed my abnormalities. They told my parents I would never sit-up , walk an dI would die by the time I was 4. They were wrong, I'll be 41 this year. I have KFS type 3 along with Scoliosis and Kyphosis. Short neck with not much mobility, low hair line. My left extremities are short than the right. bilateral ribs on left side and pigeon breasted. I had syndactily on my left hand last 3 digits. I had surgery 3 times to repair my hand. My fingers are separated but I can not open my pinkie all the way. While a teenager I found out I had only one ovary. Even though my periods were normal. They said I wouldn't be able to have children. At 26 I got married and guess what at 27 I became pregnant and at 28 I had a son with NO signs of any birth defects. While pregnant I found out I only had a right kidney and that my lungs were not fully developed. I've a couple of surgery's and ever time I have respiratory problems. Intubation is awful, I have a hard time coming off the machine the last time 6 months ago I actually pulled my breathing tube out while in ICU. The good Lord breathed air into me and I was fine! I was hospitalized for a tumor found in my uterus, they removed everything and I'm ***g great. I'm on natural hormones. Not sure if KFS had anything to do with what they found, it grew out of my ovary and was not Endomrtreosis. Anyway, I'm so intrigued by all of this information not many people have this but did you know King Tut had KFS? (sorry if I misspelled words)Thanks for listening. Blessings, Michele
    Michele R 1 Replies Flag this Response
  • I have Klippel Fiel Sydrome, the doctors noticed it when i was born 19 years ago. I have most of the problems, short neck line, low hairline, restricted neck moility i seemed to live a normal life i went to dance classes,swimming lessons and lead a normal teenage life doing what teenagers do best :) Until a few months ago i started getting these weird tingling pins and needle type sensations down my left arm i went the doctors they gave me tablets i took the full course of tablets and it still didnt go i went back and they sent me for an MRI scan, as you will probably know yourselves doctors are all full of bull so i was like aw the stupid scan will come back clear and they will say there is nout wrong with me and i know there is im gettin dizzy spells now etc etc..So didnt i get quite a shock when i went the hospital for the results of my MRI scan 2 days ago only to be told i have fluid on my brain and my spine and now have to go and see a neurologist in a month or 2 and may need an operation. What the ***l? I have now been on pins for the last 2 days wondering whether i am going to die, or what the future now holds for me am i going to get worse? If anyone has ever had this happen please could you give me some advice, i didnt realise there was a forum for Klippel Fiel Syndrome it is nice to know i am not the only sufferer, it is a rare condition i know.
    Anonymous 42789 Replies Flag this Response
  • I am just now finding out that I too have this syndrome. i am almost 52 and have been through many tests, surgeries, etc. I have only one kidney, missing uterus and fusion at neck and in the lumbar region. I have been having terrible headaches and they are looking at my neck as the cause. Does anyone out there know of a Dr. that knows a lot about this? I am leery of seeing just anyone. I have also been having hand spasms. My Dr.s' over the years have never put 2 and 2 together and diagnosed this, but I think it makes sense to me!
    Treskitties 1 Replies Flag this Response
  • Hi, I have KFS as well, I wasn't diagnosed until I was a teenager. I was getting an MRI for tinnitus problems, which has gotten much worse since I've gotten older. The Doctor said there wasn't much they could do and what they could do was very risky. So I didn't do anything. I played sports (swimming, soccer, baseball, and basketball) and learned to play the drums (I'm also missing a thumb on one hand) so I did not let it stop me. Although my bass guitar playing was short lived. Does anyone have any experience with tinnitus? Based on my research, I really haven't found anything that is useful to treat it. It started in my left ear and has started effecting my right ear. I'm pretty much deaf in my left ear now, I'm hopeful that my right ear doesn't give out on me.Also, my wife and I want to have kids. We are going to do genetic testing, but from what I've read is that KFS is not genetic and is related to the loss of blood flow to parts of the body while in the womb. One of the posts above mentioned their condition was hereditary. I'm curious to find out if I can pass it on or not. I've never met anyone else with KFS, which is not surprising due to its rarity. But I guess I'm not as unique as I thought I was. ;-)
    Anonymous 42789 Replies Flag this Response
  • Hello,I was googling KFS recently to see if there has been any new forums/groups on the topic and stumbled across this site.I am 21 and was diagnosed at birth with KFS.The doctor I had was Leland Albright at the Children's Hospital of Pittsburgh.I do not know if he works there anymore (he might have retired) but that might be a good place to check out for a referral for a doctor who may know more about KFS.I stopped seeing him when I turned 18 and have lost touch with him since.A reason many people have not been diagnosed with KFS is due to its classification as a rare disorder. Statistically being found in only 1 out of 42, 000 births.My case is servere and has physical indications of KFS, having 4 cervical fusions, my neck (or lack there of) was pretty easy to spot at child birth.Also having scolisosis was another indication.Not much is know about what causes it (from my experience). My mother use to have a telephone support group and would hear different stories from many different mothers around the world and none where the same.Some believe it is genetic.... Im not sure, since I know of a case were "normal" parents had twin boys, one with and one without KFS....Some say it is eviromental... yet others argue it is both factors.... some say it is a dorment gene that both parents have to have in order to produce a child with KFS (although the parents do not have it).Lets just say I have heard many things, but research is being done by an Austrialian physican still on KFS's origin.Besides KFS I believe I am a pretty average college girl.
    Pittgirl1987 1 Replies Flag this Response
  • Hi everyone- I am 58. I was diagnosed last year but they knew I had a fused C-6-c7 since I was 22. The funny thing is that I teach neurology and have a PhD and I was bugging 3 neurologists to take a look at my spinal cord. Finally they did an MRI on the brain and cord and I was diagnosed after KFS. I had a subluxed C4-5 and they did a disectomy and fusion of C-4-5 and built up C-3-7 with a cage. I alwas had weak Upper extremities, cold distal extremities, tingling in uppers and lowers, a winged scapula, some scoliosis and lately some problems with spatial awareness. When I saw my MRI pics there was assymetry with my right ventricular space wider than my left. I am very much "left brain" - more language oriented and analytical and have trouble with spatial awareness. The quest to really get some help is that I had a strange sensation that I was going to fall backwardswhen I walked but no dizziness. I have a leg discrepancy and I was interested in the fact that the other KFS post spoke about a shoe size difference- same here. The fusion helped the neck pain and increased my range of motion which was limited. Usually fusions don't work for osteoarthritic changes but mine was a lifesaver because I could barely walk. I've always had low muscle tone and poor posture and trouble holding my neck up and the surgery helped but i had a great neurosurgeon. I have a great nuerologist who is researching it but like you guys- I had to diagnose myself. Sometimes it's worse when you teach Neuro because the MDs always know better( lol) no really I had to not tewll people I teach this stuff but my neurologist now is terrific and likes that he can speak to me. I'm so so happy that we all can get some support for this. Believe me it took years to get a diagnosis and every neuro has their specialty- one is parkinsons, one is MS. There are some changes in the brain but it probably isn't prigressive and I now have some bladder issues which resemble the problems of a spinal cord patient.. I'll definately check out the KFS support group. My fiance is a therapist ( rehab) and we both knew it was Central nervous system so it was a tough couple of years....MM Orlando Fl area
    Anonymous 42789 Replies
    • November 6, 2010
    • 09:36 PM
    • 0
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  • Well, no one has written in a while, but I stumbled across this forum. I'm going to be 23 this year and was diagnosed with KFS at 19 years of age due to chronic complaints of pain. My signs and symptoms of KFS:- low hairline on (L) side- short neck- minor scoliosis (and all that causes in effect, i.e. uneven clavicles, ribs, etc.)- severe neck and back pain- tingling in the extremities- severe hearing loss (L) ear, mild loss (R) ear- at least 2 cervical fusions (2 vertebrae together, then it looks like 3 are fused)- possibly a third in upper thoracic; docs can't tell for sure (and neither can I)- limited neck mobility- occasional sharp/nerve pain to (R) scapula- spinal lipoma (fatty tumor)* in the coccyx/sacral region- probably more; just can't think of 'emI'm 4' 11 3/4" (just went to the family MD yesterday). No one in my family that we know of has a history of KFS, so I'm assuming mine is not genetic (here's hoping). I'm an RN with my BSN --- was dx'd during Nursing school (yay) --- and have a decent understanding of what my neurologist tells me. Unfortunately, there isn't enough information on KFS to really anticipate my future or a prognosis. I have had X-rays and MRIs (ugh), a Nerve Test (not fun), and typical neuro assessments completed. Interestingly enough, I also have what's called anisocoria (one pupil is permanently larger than the other), as well as a curved uvula, which both indicate neurological issues. I knew about those on my own before being diagnosed with KFS. Does anyone else have either of those conditions? (If you do, know that, in and of themselves, they're harmless.) Thanks to the Nerve Test, it's also been discovered that I have Carpal Tunnel. Does anyone else have that with their KFS?I've been told I will eventually need surgery, though my condition is not obvious upon visual inspection. And, of course, we don't know what KIND of surgery I'll need; we just have to "wait and see."It really is nice to know that you aren't alone, but it still stinks knowing that there still isn't much research on the condition. D:My big questions for those of you who are older are the following: Have your symptoms/pain only worsened over time? Do you take medications for your symptoms? (If so, do they help?)Have you discovered more and more defects, or were they pretty much discovered when you were diagnosed?Are you still able to work, bear pregnancies, and/or be active?If you did have children, did you pass on any or all defects?Are you facing the possibility of being in a wheelchair in later years due to crippling effects of KFS?To be perfectly honest, I'm kinda scared. I don't want to feel like a burden to my future husband and children. I don't want to be in a wheelchair. I want to be able to continue working as an RN and take care of people. I want to run around and play with my kids and grandkids. It's just that the pain is so severe sometimes that I can barely move. Your thoughts and support are very much appreciated. God bless us and all those who suffer.*When my neurologist told me I had a fatty tumor in my lower back, I replied with, "So I'm guessing diet and exercise isn't gonna cut it, huh?" Unforunately, he didn't laugh. He may know his stuff, but he sure doesn't have a sense of humor... :P
    Anonymous 42789 Replies Flag this Response
  • Hi, I have KFS as well, I wasn't diagnosed until I was a teenager. I was getting an MRI for tinnitus problems, which has gotten much worse since I've gotten older. The Doctor said there wasn't much they could do and what they could do was very risky. So I didn't do anything. I played sports (swimming, soccer, baseball, and basketball) and learned to play the drums (I'm also missing a thumb on one hand) so I did not let it stop me. Although my bass guitar playing was short lived. Does anyone have any experience with tinnitus? Based on my research, I really haven't found anything that is useful to treat it. It started in my left ear and has started effecting my right ear. I'm pretty much deaf in my left ear now, I'm hopeful that my right ear doesn't give out on me.Also, my wife and I want to have kids. We are going to do genetic testing, but from what I've read is that KFS is not genetic and is related to the loss of blood flow to parts of the body while in the womb. One of the posts above mentioned their condition was hereditary. I'm curious to find out if I can pass it on or not. I've never met anyone else with KFS, which is not surprising due to its rarity. But I guess I'm not as unique as I thought I was. ;-) I have KFS and have done a lot of research on it and from what this article says it is Hereditary and if you have it or are a carrier than there is a 25% chance you will give it to your child or pass the gene to be carried on and 50% will be fine and not carry http://www.spinalcord.ar.gov/Fact%20Sheets%20html/klippelfeil.html
    Anonymous 42789 Replies Flag this Response
  • Hi -- I was wondering what the outcome was for your situation? Mine sounds very similar... I have a fusion of C2-T1, a split spinal cord and tethering in the cervical spine and for 24 years had no problem. A year ago I began having pins/needles in the left arm and hand. Then three months ago severe muscle spasms. A month ago my entire left side began having neuro symptoms, including in my leg and cheek. I had my spinal cord detethered to fix the problem but I don't believe it has (am three weeks post-op). Any help/guidance from folks going through something similar would be great.... I have Klippel Fiel Sydrome, the doctors noticed it when i was born 19 years ago. I have most of the problems, short neck line, low hairline, restricted neck moility i seemed to live a normal life i went to dance classes,swimming lessons and lead a normal teenage life doing what teenagers do best :) Until a few months ago i started getting these weird tingling pins and needle type sensations down my left arm i went the doctors they gave me tablets i took the full course of tablets and it still didnt go i went back and they sent me for an MRI scan, as you will probably know yourselves doctors are all full of bull so i was like aw the stupid scan will come back clear and they will say there is nout wrong with me and i know there is im gettin dizzy spells now etc etc..So didnt i get quite a shock when i went the hospital for the results of my MRI scan 2 days ago only to be told i have fluid on my brain and my spine and now have to go and see a neurologist in a month or 2 and may need an operation. What the ****? I have now been on pins for the last 2 days wondering whether i am going to die, or what the future now holds for me am i going to get worse? If anyone has ever had this happen please could you give me some advice, i didnt realise there was a forum for Klippel Fiel Syndrome it is nice to know i am not the only sufferer, it is a rare condition i know.
    eml8786 1 Replies
    • August 31, 2011
    • 05:58 AM
    • 0
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  • Hello. I just stumbled across this thread and I am looking for more information on KFS. My husband was born with this condition and had surgery at Shriners when he was a toddler. He is now in his 30s and seems to be dealing with COPD. Does anyone else with KFS have breathing issues? How are they treated? My mother-in-law recently informed me that my husband's left lung was not fully developed at birth and he had to be flown to a medical center and put on a breathing machine shortly after his birth. Some how my husband never knew this story and he has been dealing with breathing problems since his early 20s. Any help or information regarding KFS and lung problems would be greatly appreciated. Thank you!
    KFSWife 1 Replies
    • December 27, 2011
    • 07:35 PM
    • 0
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  • i was born with kfs and had an operation to fuse all of my back i have scoliosis and a servere curve in the bottm of my spine along with sprengels deformty and my bad side is my left side i am 31 years of age and get pains in the bottom of my spine when i walk wondering f any one else has this problem
    Anonymous 42789 Replies Flag this Response
  • Hi I already posted here and something came up and thought that since it could be related with KPS that I should share it.I had surgery last year (28yrs old). I was admitted in ER where they made the strangest discovery. I've had some stomach problems that got worse with the years. I had a stomach crisis worse then all others one day. The pain was so bad i thought i was gonna die. In the end, I was diagnosed with volvulus of the stomach caused by my diaphragm that was elevated on my left side where it goes halfway up in my rib cage (my left lung is underdevelopped). My stomach is so big because it stretched over the years (the surgeon said it was abnormally big for someone my size... 4'9''). Volvulus is so hard to prove, unless during a crisis. I stayed in the hospital 3 days until they made the diagnostic!!So anyone with short stature, fused vertebraes and with symptoms like a lot of pressure on the stomach after eating, followed by pain trouble breathing (that's really bad). and the only thing that can relieve it is by lying down on your LEFT side, get a chest-abdomen MRI to check your diaphragm but tell them to make you drink water before, that's the only way you'll see where your stomach ends up when full. Even then, my surgeon says that the MRI had nothing to do with the surgery. They couldn't repair the diaphragm. The surgery was done with the robot thing where they do 5 holes, so little surgery. They made 5 stitches to attach my stomach on my left side so it wouldn't move. Volvulus is nomally found in older adults (50-70s) I think i am the youngest diagnosed. If left untreated there MAY or MAY NOT be complications. The complications could be volvulus (stomach squeeze) to the point where the blood flow is ceased in the stomach and that's life threathening. Those are the words of my family doctor who convinced me to do the surgery. It is best to it young because you heal better. But again, i had some serious pain... Oh and for my case i also did some genetic tests, my KFS is not hereditary. They tested my parents and my DNA is fine.
    stardust83 1 Replies
    • October 13, 2012
    • 04:52 AM
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  • Hi I'm a new member newly diagnosedwith KFS. I am 52. I have known I had 2 cervical fusions from birthfor several years. My C1 is fused to my skull and C2 and C3 are fusedtogether. I found out after a car accident in which I was rear-ended.I was told it would be very easy to break my neck because of thespace between C1 and C2. When I was born, my nose wassmashed to the side of my face and my Mom had to push it to theopposite side when I took a bottle to make it straight (on theoutside). When I was young I had terrible problems with TMJ. My rightjaw would lock up and I couldn't open my mouth up very far and itwould pop and click. I never told my Mom out of fear of her "wrath".When my periods started, I bled very severely. I would have hugeclots like chunks of liver come out of me, sometimes runningdown my legs when I stood up out of bed in the mornings, but my Momnever took me to a Doctor. I had severe shin splints when I ran, butagain I kept this to myself. My Mom forced me to marry when I was inmy teens. I was 17. I got pregnant the first time when I was 19. Ihad pre-eclampsia. My water broke 2 weeks before my due date. Mybaby's head was not down into the birth canal, and I was not havingcontractions. But since my water had broke, they had toinduce me. Only one side of my cervix was dilating. They didn't knowwhy this was happening. I was in so much pain. I couldn't tell whenone pain ended and the next began. I was hurting so bad, I pulled thecall light out of the wall and didn't even know it. They told me Iwouldn't have my baby until the next day since only half of my cervixwas dilating. Later on the other side caught up and I had her thatday with the help of a saddle block. It was a girl and she weighed 781/2. Inside me, they also found a sack filled with a whitish coloredliquid. They said they were sending it away to be tested and not toworry about it. They never told me what it was, but I always thoughtit was a twin that never developed. Two years and one month later tothe day, my water broke again, this time 2 days early. But this timeI had contractions. I wanted to have my baby natural. Big mistake. Ihad him OK. But he tore me really bad in an awkward place on mycervix. He weighed 9 10. Then the afterbirth wasn't coming out. Theymade my husband leave. I was bleeding to death. They ran up/down thehall for someone to put me to sleep, but there wasn't anyone. Theytold me I was dying. Two Doctors put their hands up inside of me. Theafterbirth had grown into the wall of my uterus instead of justattaching to it. They started ripping it out. The pain wasexcruciating. I was screaming! The anesthesiologist put gas on me fora minute and then asked me silly questions. More ripping. MoreScreaming. Over and Over! Two months later, I was still bleeding. MyDoctor gave me pills to stop the bleeding but they didn't help. So Iwent in for an exam. The Doctor found afterbirth still inside me,infected. I had to have a D & C. I don't wish that on anyone.I later on divorced and got remarried. I started having really badpain in my sides. It would come and go. So I called my surgeon and hehad me to come into his office. He sent me straight to the hospitaland he called in a Gynecologist. They both went into surgery. Theyfound my fallopian tubes and my appendix were abscessed. But theGynecologist also discovered that I had 2 uteruses. They were formedtogether into the shape of a heart. She told me if I ever had anykidney problems to call her, because when you have an anomaly withone you usually have one with the other. So around a year later I gota kidney infection. I called her up and she got me in that day with anephrologist. He later did a dye test and found out I wasborn with only a left kidney and a mega ureter. My husband and Ilater tried to have a baby via in vitro fertilization. The Doctor dida dye test and found out the inside of one of my uteruses was normaland the other abnormal shaped and they both came down into onecervix. I later on had to have lateral release surgeries on both kneecaps for tilted knee caps. I don't know if that is related to KFS ornot. I had never heard of the term KFS until recently. I sawsomething on Facebook about it. I looked up 2 cervical fusions frombirth and it came up on bing.com and I started reading the symptoms.I knew I had 2 fusions, long hair line in the back, check, shortneck, check, limited range of motion in neck, check, asymmetricalface, check, I have no control over the muscles in the right side ofmy mouth or neck, I have a small mouth, I am a difficult intubation,I think I have Sprengel's Shoulder. I have a lump just behind myneck, so I've read that that could be a sign that your shoulderblades could be high. I have spinal stenosis, My TMJ is so bad thatit causes my cartilage to go out of place and causes severe ear pain.I'm wandering if I don't have a deformity of the ear instead of itbeing my TMJ like my Dentist thinks it is. Any way, right now that isall I can think of. My PCP doesn't have a clue. I went to him today.I am the only patient he has ever had with KFS. So he is getting mean MRI scheduled and sending me to a spinal surgeon who he thinkswill have had more experience with KFS. I pray so. KFSGal
    KFSGal 1 Replies
    • November 27, 2013
    • 00:25 AM
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  • Hi everyone! Could anyone please tell me of a doctor in the Atlanta area who is familiar with Klippel Feil? I'm another one who has had to diagnose myself. I have almost all the characteristics except the obvious one - short neck. I had renal duplication (resulted in losing a kidney at age 25), fusion of C2-C3, sinus problems, asymmetry of the face, and pain that is becoming debilitating. I have a nephew who has the obvious external characteristics. This definitely came from my father's side of the family. Now I'm wondering if my 10 year old daughter could have this. She has webbed toes. Anyway, I just need help and like everyone else says, no doctor I've found is familiar with this condition. I sincerely appreciate any advice or direction someone can give me. Even if I have to drive hours do a doctor, I would do that. Thank you! Helen
    hlkanturek
    • December 14, 2013
    • 04:34 AM
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  • Hi not sure if you are still following this. I sound like I have the same difficulties. I am 46 and becoming more squint. The lower back pain varies every day but is always sore. How are you?
    Anonymous 1 Replies
    • January 26, 2014
    • 08:28 PM
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