Life with a boy and his Hypoplastic Left heart Syndrome, now Heart transplant and partial Liver from Aspergillius. Also, a girl and her Tethered Spinal Cord Syndrome, Neuro Endocrine Cell Hypoplasia, Lumbar Hemangioma, asymmetrical gluteal cleft, Pectus Carinatum and two Super Sisters and one yummy baby brother.

Tuesday, October 15, 2013

NEHI update

Last week I received a phone call from Dr. U. He had the information back from Denver. It is confirmed NEHI and at this point we won't be doing a lung biopsy because it is such a text book case. Well most of it is text book. The NEHI portion is. The fact that she also has Tethered cord syndrome and a lumbar hemangioma is interesting. She is one of a kind. We will still be doing a few more tests to rule out absolutely everything else. She will have a sweat test to rule out CF. That doesn't seem to hard so we can manage that. I think she also needs some labs done to check her Iron levels again. She has a ped appointment on Wed. so I think we can work with her doc to get those done. We will be sitting down with Dr. U  to go over everything and to discuss the nitty gritty details. I always have a little list of questions. Hopefully he will be able to answer them. This is such a new thing that not much is known. I watched a little video on Youtube about a little girl with NEHI and they talked about 400 to 500 cases world wide. I am mostly curious to see how this will effect her and her other issues. She is hitting all of her milestones and does very well as long as she has her oxygen. We have given her what I think are little breaks from it. It takes her hours and sometimes days to recover from the breaks that I can see right away that it is needed. 

As we move into sickness season I am getting nervous that we will be slammed with illness. I hear someone cough, my own kids included, and the hairs on my neck stand on end. My hands will crack and bleed from the washing. I am taking vitamin C hoping it will transfer through me. It might be a long lonely winter.

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