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| Melanie,
My dd has congenital scoli. She has a hemivertebrae at C5 and it seems that some disks are missing in the cervical area. They were going to fuse her neck at 18 months, but we got a second opinion and decided against it, now her neck is short but straight. We also had speech issues and used the sign language it was amazingly helpful and really bridged her into talking. It was like she did not get what language was before we used the signing. Now, at 2 and a half she is on target for language. We had the OT, PT, and ST at the house too.
I dont know how tall she is but she weighs like 26. I think her cheeks weigh 5 pounds....I don't know if having low muscle tone makes it more likely to weigh less, in my mind if you have less muscle you would weigh less. Our dd has low tone, not a lot of muscle, but she seems to have an adequate amount right now. We were able to stall on doing the VEPTR surgery she was scheduled for..I try to check in to learn all I can about it still.
Mary
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Regular
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Location: Dayton, OH | Mary, thanks for your thoughts and experience. Second opinions can shed new light on the situation, that's for sure. I "fired" our first ortho surgeon in Dayton after getting the second opinion in Cincinnati and stuck with that doc (Dr Crawford) even tho it means every appt down there requires a day off work for travel time. Now almost all of Ana's 9-11 docs are in Cincinnati. I'm hoping to move closer to Cinti within the next year, or so.
I'm just curious, did/does dd have congenital fusion of the cervical vertebra, as well as the hemi? That's what makes Ana's situation really dicey. There are multi vertebra fused into a bar on the left side but they are normal on the right side and growing at different rates. She also has other anomolies in the cervical vertebra area. So, the more she grows the more the asymetrical growth pattern pushes her head over to the left and her right shoulder up. You can probably imagine how fragile her neck could become. The possiblity of fusing the vertebra on the "normal" side would force symetrical growth from that point forward. There is virtually no possiblity (outside of a miracle) of it normalizing so that her neck is straight with or without surg.
Oh, I agree with you about signing adding a dimension to our communication that didn't exist before. A "bridge" between spoken words and actions is the perfect way to describe it. With just the little bit that we've learned - we are making great headway on communicating more effectively - and having fun doing it. For anyone that's interested in learning some basic "kid language" in ASL, I found a website that has a video dictionary of signs online @ https://www.babyhandsproductions.com/index.aspx
You want to hold up on VEPTR implants for dd, Mary? Have you heard or seen something that causes you alarm about the implant(s) in your research? Does dd have rib fusion causing TIS? If not, I can see why you would hold off for more data. Ana's now got four curves and spine rotation causing her organs to shift around and they are just now beginning to crowd into her lung space causing dependent atelectasis in the lower lobes. In other words, time doesn't appear to be on our side, but oh how I wish it was!!!! I lost my dad on March 5th to small cell lung cancer. In his final days, he developed pnemonia and the tumor was increasingly pressing on his pulmonary artery. In effect, he was painfully suffocating to death. I don't want to witness Ana slowly doing the same. It was horrendous.
I wish you the best in your research and hope that you'll come back and share it with us again. In the meantime, I wish dd great strength and health!
Romans 8:28-38 |
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Location: Plymouth, Pennsylvania |
I AM AFRAID I HAVE BEEN A LITTLE BEHIND IN READING THE POSTS
THIS PAST WEEK OR SO, ZOE HAS REALLY BEEN BATTLING EVERYTHING
FROM EARS AND THROAT, TO HER VESICOSTOMY FLAMMING...
MELANIE, FIRST I WOULD LIKE TO TELL YOU HOW
SORRY WE ARE FOR THE LOSS OF YOUR FATHER...MY OWN FATHER DIED
MANY YEARS AGO OF SMALL CELL LUNG CANCER....I CAN STILL TAKE NO
COMFORT THAT HE IS GONE FROM MY LIFE, BUT THE ONE COMFORT I DO HAVE,
IS THAT HE WAITS AT THE RIVER, THAT I TOO SOME DAY SHALL CROSS...
ZOE HAS CERVICAL FUSHION...A CONDITION, AMOUNGST HER CONDITIONS,
CALLED KLIPPEL FIEL SYNDROME....HER NECK IS VERY SHORT AND WEBBED,
AND SHE DOES LEAN HER HEAD TO THE LEFT...SHE ALSO HAS A SHOULDER DEFORMITY
REFERRED TO AS SPRENGLER DEFORMITY....
AFTER ZOES TITANIUM RIB IMPLANTS, THE LEANING OF THE SHOULDER AND
THE RISING OF HER SHOULDER WERE EXACERBATED...BUT IT HAS NEVER CAUSED
HER ANY DISCOMFORT, AND WE HAVE ALWAYS FELT IT WAS A SMALL PRICE TO PAY
FOR HER LIFE...WE HAVE SOME PICTURES OF ZOE IN THE ALBUMS, THAT GIVE
A BETTER IDEA OF THE WAY ZOE HOLDS HER HEAD AND SHOULDER...
ALL MY BEST...
GOD BLESS....
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Location: SanAntonio TX(formerly Hammond Indiana) | I have noticed that many of the rib kids have neck issues, and not all have syndromes or stuff that account for it. Brianna had more of a neck BEFORE she started in the rib program (???)......I asked dr campbell about it and he said that its due to the devices. I dont know, really, tho. Its like, she has no neck now!!Also, at her eval in 2000, he said she has "marionette syndrome"..........that when she breathes in, she pulls up, like a puppet on strings......ummmmmm, guess thats all. |
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Posts: 3970
Location: Plymouth, Pennsylvania | I WROTE ON ANOTHER POST THAT ZOE ALSO HAS THIS "MARIONETTE SYNDROME"...
IT IS AMAZING HOW VERY MUCH ALIKE MANY OF THE CHILDREN ARE...AND MUCH
IN COMMON THERE BODIES ARE, AND WORK STRUCTURALLY....
GOD BLESS.... |
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Location: Dayton, OH | Hi - Johanna and Jennie - after I responded to "Mary" last nite, I was browsing the UK threads and found where you both had mentioned Sprengler's. No one has ever named what causes Ana's shoulder to be so much higher than the other one. I didn't figure it even had a name. Do you have a good source for info on it or do you mind filling me in? You can email me if you want, but probably other people would learn from anything you have to share. Johanna, I think I read that Zoe's surgeon recommended against fusing her cervical vertebra after VEPTR because it would pull against the work the VEPTR was doing. Did I understand correctly?
Ana's neurosurgeon diagnosed Ana (without genetic testing) with Klippel Feil. I didn't want to agree, but when her spine started rotating I had to admit, he's probably right. I don't know too much about it, but I know it's bad. She doesn't have much of a neck now - if VEPTR effects it's growth - we'll be in the negative. There is so much to learn.
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| Melanie,
I am sorry to hear about the loss of your father.
I had actually quit my job in preparation for the surgery, (My job involved taking my kids with me, and a lot of driving around, and a lot of other kids around her)which we then decided to get another opinion on and postpone. I won't go into details, but , we switched drs. and Gabi started to look better and we decided to postpone, in order to have less surgeries. We are told that it will get worse again and if it does the VEPTR is our choice of surgery to do. She does have a couple of fused ribs and Sprengel's deformity of her right shoulder.
I wanted to mention that I have read that they will be doing a VEPTR surgery for the first time in Cinncinati this coming week. I am guessing that it will be in the paper.
My understanding is that one of the purposes of the VEPTR is to allow the lungs to develop well, while the child is young. Gabi is doing well now and her lungs currently have the room they need. She loves to sing and be a princess. You and Ana will be in my thoughts and prayers.
Mary |
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Location: Plymouth, Pennsylvania | I THINK FOR ZOE, HER CERVICAL FUSHIONS ARE STABLE...
WE HAVE NEVER HEARD MENTIONED ANY HEMI-VERT IN THAT AREA...
MANY IN OTHER THOUGH...
WHEN WE WERE FIRST MADE AWARE OF A SURGERY TO TREAT SPRENGLER
DEFORMITY, IT WAS IN CHILDRENS HOSPITAL OF PHILA....BUT UPON
MENTIONING IT TO DR. EMANS, ZOES TITANIUM RIB SURGEON, HE SAID, IT
WOULD WORK AGAINST THE BENEFIT OF THE VEPTRS...AND WE HAVE GREAT CONFIDENCE
THAT HE KNOW BEST...
GOING THRU THIS NOW FOR ALMOST 5 YEARS, WE CAN SIT BACK AND REFLECT...
FOR ZOE IT IS LIKE A BALANCING ACT...EACH TIME SHE IS EXPANDED, IT
LIFTS HER SHOULDER, JUST ABOUT TO HER EAR, BUT THEN AS TIME GOES BY,
IT STARTS TO DROP AS EASE A LITTLE, UNTIL THE NEXT TIME...NEVER
GETTING TRULY ANY BETTER, BUT NOT GETTING ANY WORSE...(I HOPE THAT MAKES
SENSE?) BUT THE BOTTOM LINE IT, THERE WAS NO CHOOSES FOR ZOE...
THE ONLY HOPE SHE HAD IN THIS WORLD, 5 YEARS AGO, AS WELL AS TODAY, IS
THE TITANIUM RIBS...THOUGH A LITTLE ODD, ON THE OUTSIDE SHE MIGHT BE
PRECEIVED BY THE WORLD...INSIDE, HER HEART GROWS AND HER LUNGS, EXPANDS...
AND EACH BREATH SHE TAKES IS A GIFT..... |
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| Hi again,
I don't know if this is right, but, my understanding of Klippel-Feil is that involves a congenital fusion of any two or more of the cervical vertebra. I guess at some point the fetus has the vertebra all together and then they are supposed to seperate into separate vertebrae, or I guess they call it segmentation. So, for Klippel-Feil, any of the cervical vertebrae can fail to segment. I think a pediatric neurosurgeon can diagnose this. For the Sprengel's deformity, it has something to do with when the fetus is developing, the scapula is supposed to start out high and then move down with development, with Sprengel's the scapula fails to move down like it is supposed to and it stays up high. That is my understanding of what it is. I could be wrong. I had found a dr. doing genetic research on Klippel-Feil, I guess there are some people who feel that it can be genetic sometimes or some types of KFS can be. I haven't found anyone to be very interested in doing the genetic testing.
I guess if you have a bar, this is a failure of segmentation, and a hemivertebra is considered to be a failure of formation, because half of the vertebra does not form properly. It seems that quite a few people have both of these problems.
BTW, one thing that I have found very strange is that my dd has abnormal teeth as well. They are just like her vertebrae, the one side has too big of a tooth and the other side has too little of a tooth. I keep trying to make sense of it. Hope this is helpful. You could also do a search on both of these, there is a fair amount of info on the net on both of them.
Mary |
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Location: SanAntonio TX(formerly Hammond Indiana) | I wnated to add, that not ALL of the kids with the one shoulder higher issue have Sprengler's or K-F......Brianna doesnt.A lot of the rib kids have uneven shoulder as they get closer to expansions, and some have them in the beginning of their rib journey, as things work and even themselves out.Brianna isnt missing any neck vertebra nor are any of her cervical vertebra fused. |
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Extreme Veteran
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| Billy's one shoulder is higher, solely because of his spinal curve.. he also has no KF or sprengles. It's just the entire shoulder though, the shoulder BLADE itself is in the normal position.
He does have a tooth anomaly too, though, funny you should mention it. He has two teeth fused together on the bottom row. His doc said they should fall out together, and the new ones should be fine. Here's hoping. |
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Expert
Posts: 3970
Location: Plymouth, Pennsylvania | FASCINATING INFORMATION....
ZOE ALSO HAS TEETH ANOMOLIES...WITH 2 TEETH ON THE BOTTOM FUSED
TOGETHER...
SHE ALSO HAS TOE ANOMOLIES, WHERE HER TOES LAP OVER EACH OTHER,
AND WILL AT SOME POINT HAVE TO HAVE SURGICAL INTERVENSION...
SHE HAS ALSO NEVER SINCE BIRTH HAD A TRUE EYE COLOR...HER EYES ARE
WHAT I WOULD CALL "PLAID"
AND JUST THIS WEEK WE WE TOLD BY THE BEAUTICIAN, THAT ZOE HAIR IS
HALF NATURAL CURL, AND HALF STRAIGHT...????
I HAVE GOT TO TELL YOU....I HAVE NO CLUE WHAT GOD WAS THINKING...? |
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| Well, I am not glad that anyone has to deal with all of these problems, but I was very releived to read that others have the teeth issues, as I had not found anyone else with the teeth problems. Thanks for sharing that info. I really appreciate it.
Mary |
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Location: Dayton, OH | Well, isn't that odd? Teeth to toe anomalies! When Ana wakes up in the morning I'll be pestering her to look in her mouth for any teeth anomalies! Half straight hair and half curly? Hmmmm.... that has to pose a challenge or two. Mary, yes - yes, you've reminded me failure of segmentation and failure of formation. Ana has both of those plus the rotation which -if I remember correctly, is like the punctuation point (lay term) on KF.
You all have a wealth of information. Jennie, I hear what you & some of the others are saying about the appearance of Sprengels and KF doesn't necessaily mean the child has that diagnosis. I'll be sure and ask Dr Crawford.
Mary, yes - the first VEPTR surg in Ohio is tomorrow. Ana was being evaled for it along with three other children. I hope it goes very well for all tomorrow. I can't imagine how nervous the child's parents are - I suggested this website to Dr Crawford's spine nurse the three families, but I don't know if she passed on the info. HOPEFULLY, Ana's case study will be reviewed and strategized by Dr Campbell and Dr Crawford on Wednesday. I am supposed to get an update this Thursday.
I'm updating our album with a new photo of Ana's shoulder tonight, if any of you want to take a look.
Thanks to all who expressed their sympathy and/or offered prayers for me and my family over the loss of my father.
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| This is my first time on this website and while reading your notes I saw the word Sprengler's. My son Ryan has Sprengel's Deformity which means that his shoulder on the right side is small, raised and twisted. He had surgery at age four to correct this problem. It was a fairly new procedure, different from the old way of doing it. The old way was called the Woodward Procedure. I don't have my articles with me but would be happy to send them to you for additional information. |
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Expert
Posts: 3970
Location: Plymouth, Pennsylvania | LINDA,
THANK YOU FOR SHARING THIS INFORMATION...
I WOULD LOVE TO HEAR ABOUT THIS NEW PROCEDURE...
LAST I HEARD ZOE WAS NOT A CANIDATE FOR REPAIR, BECAUSE OF THE VEPTRS, BUT I WOULD
BE INTERESTED TO SHOW THIS NEW INFORMATION TO DR. EMANS, AND PICK HIS BRAIN A LITTLE...
WHO KNOWS...THINGS ARE CHANGING AND GETTING BETTER EVER DAY...
THANKS.... |
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| Linda,
That information sounds very interesting. Right now, the Sprengels deformity is helping keep Gabi's overalls up, that is her right shoulder would be lower from the scoli, but the Sprengel's Deformity hikes it up, and keeps her overalls on. She has to wear overalls, because with her brace, I can't keep any pants on = they fall off her brace and then she trips and falls on them. So, I have abandoned all pants in order to not have her trip and fall, which she does without the added problem of the pants.
It would be good to have this information for the future. I had heard mixed things about the woodward procedure. Thanks a lot . Is there a link for the new surgery?
mary |
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| My name is Dr Raymond Clarke. I undertake research into a syndrome known as Klippel-Feil. I was interested to realise your daughter had speech problems. Would it be possible to inform me regarding the speech problem.
[email protected]
Regards
Raymond |
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| Hello Dr. Clarke,
I'm not positive who you were asking about speech problems?
My daughter did have speech problems, but it was not an articulation problem.
She did not seem to understand language, could not produce it either. I had the feeling I was talking to myself all the time.
Words had no meaning to her until we started using sign language with her. After a few months or so, of the sign language she seemed to "get" what language was about. She is now 3. She pronounces words just fine, but still seems to have problems understanding speech. She is not a big talker, pretty quiet.
I have met quite a few moms on the torticollis group whose children have speech issues. I have met several families with Klippel-Feil there. There also seems to be a correlation, at least on the group, between the torticollis and sensory integrations/speech issues for some children It seems they were doing a study on this at Childrens Memorial in Chicago. The group would likely answer any questions - the group is at torticolliskids.com
Regards,
Mary |
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cervical hemis
