newly diagnosed daughter w/klippel-feil and goldenhar

Have a child with SM/Chiari? Share issues unique to children and their caregivers.

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newly diagnosed daughter w/klippel-feil and goldenhar

Postby gue29291 » Sun Oct 21, 2007 9:45 pm

:?: Hi everyone, thanks already for what I have learned reading old posts. My daughter is 6 years old and has just been diagnosed w/ chiari and a syrinx. It is all so new to me that I am not even sure exactly where the syrinx is. She was diagnosed because her orthopedist had an MRI done to find out more about her spinal cord. After seeing the MRI he referrred us to Dr. Harter at NYU in NYC. We already knew she has klippel-feil which is fusion of cervical vertebrae which is why the ortho had the MRI done. (She also has goldenhar syndrome, which is a craniofacial birth defect affecting in her case her face and heart also - she had open heart surgery at 6 months, her jaw is too small on one side so she was fed by a g-tube as a baby and her left ear never fully developed) Otherwise she is a very active, healthy and normal 6 year old and upon meeting her you would probably be very surprised when I listed all her problems and previous surgeries. I must say I was taken quite aback by this new diagnosis, I really thought the worst was over for her. Needless to say I have some questions. The neurosurgeon needs to have another more specific MRI done which she will need to be sedated for, but because of her airway issues this probably will not be able to be scheduled for a few months. I don't think this is a problem but has anyone had a Chairi that went downhill very fast so this could be a problem? At this time she has no clinical symtoms, except that she sometimes says her "neck is spinning". Has anyone used Dr.Harter at NYU or his associates? Does anyone have experience with klippel feil along w/Chiari? Actually any responses at all would be a big help, I feel like I have gone back in time 6 years when she was diagosed with goldenhar and I had trouble spelling that too!! Thank you.

Ginny (mom to Nicole)
gue29291
 
Posts: 12
Joined: Wed Oct 17, 2007 10:03 am

Hi

Postby Dakota's Mom » Mon Oct 22, 2007 7:00 am

Hi, Ginny. I am new here, as well. Our son has Neurofibromatosis and syringomyelia---I really connected with you when you said you felt like you were back 6 years ago! I feel the same way, too.

I use www.pubmed.org for a lot of information. It compiles medical articles/abstracts and a lot of it doesn't pertain most of the time, (and a lot of it can be the worse case scenarios). But, it did answer a lot of the pain and progression questions for our son and the correlation between NF and SM. I just typed in Klippel-Feil Chiari and got 33 hits.

I hope this helps, and I wish you the best of luck.

Rachel
Mom to Dakota (age 10--NF, autism with cognitive impairment, seizures, left thoracic scoliosis, SM--syrinx C2-T8 4mm)
Dakota's Mom
 
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Location: Omaha, NE


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