Sad Ending to a New Beginning
11 years ago
Post-Surgery
After my 2nd Surgery
I want answers.....
I'm so angry and sad and...well I just want my Kyle feeling better. I'm afraid his Chiari symptoms are returning. And yet he still is wearing the halo, "for three more months", his surgeons say. But in the meantime, Kyle is losing his voice again. He won't eat, he's lying down all down, and he's weak. I want answers. I want to know if his spinal fluid is flowing correctly. I want to know why he is losing his voice again.
2 comments:
Hello, my name is Julia I am 46yrs old I was born with Klippel-Feil syndrome with Sprengel deformity, Thoracic outlet syndrome,DDD,Spondyloysis,Tortous colon,Ehlers-Danlos syndrome, & other health issue's. In April of 2011 I was diagnosised with Chiari Malformaiton, I have always had headaches daily but the doctors have always blamed it on my birth defect. I did not get a diagnois for my deformity till about 6 yrs ago, I have known since I was little that I was diffenrent but when I was 18 a doctor did xrays & found my birth defect, but he could not give it a name...So I have seen many doctors in my life time & no answers...I read your post about KFS the blood supply was cut off,I would like you to read this: Mutations in the GDF6 and GDF3 genes can cause Klippel-Feil syndrome. These genes provide instructions for making proteins that belong to the bone morphogenetic protein family, which is involved in regulating the growth and maturation (differentiation) of bone and cartilage. Cartilage is a tough but flexible tissue that makes up much of the skeleton during early development. The proteins in this family are regulators of cell growth and differentiation in both embryonic and adult tissue. The GDF6 protein is necessary for the formation of many bones and joints in the limbs, skull, spine, chest, and ribs. The protein is involved in setting up boundaries between bones during skeletal development. While the GDF3 protein is known to be involved in bone and cartilage development, its exact role is unclear.
GDF6 and GDF3 gene mutations that cause Klippel-Feil syndrome likely lead to a reduction in functional protein. While the GDF6 and GDF3 proteins are involved in bone growth, and the GDF6 protein plays a role in the formation of vertebrae, it is unclear how a shortage in these proteins leads to incomplete separation of the vertebrae, specifically the cervical vertebrae, in people with Klippel-Feil syndrome.
Some people with Klippel-Feil syndrome do not have identified mutations in the GDF6 or GDF3 genes. The cause of the condition in these individuals is unknown.
I hope & pray that Kyle is doing Much better, I can't believe that the Doctors have done so many surgery's on him...If you have any question you may ask...Take Care & God Bless Julia
That is interesting Julia. I always felt there is a better reason for Klippel-Feil than what we were told. I just want Kyle to feel good and be healthy and strong. Thank you so much for posting information on the mutations in the GDF6 and GDF3 genes.
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