Guest guest Posted June 25, 2006 Report Share Posted June 25, 2006 Hello Fran, Sorry my is being weird. Thanks for your information, you are very brilliant when it comes to medical problems. This is what they are thinking is going on 1. With recurrent sinopulmonary infection, candidiasis, points them toward more of a primary immunodeficiency syndrome rather than an autoinflammatory disease. 2. Possibility would be polyglandular endocrinopathy, checking for AIRE mutations may be a consideration. 3.Many other genetic defects have been reported and could be plausible explanations fot this womens condition. 4.Genetic defects 5.Inflammatory bowel disease But that is only some of what they are thinking and testing for,they are unclear exactly what is going on and want to consult with all the specialty doctors that evaluated my case. I am not sure what the main immunologist doctor was considering but they were trying to contact him on his evalation with me and Nick. To me it sounds like a long road ahead of us. They did put Nick on Singulair and for now they wanted me to increase my colochine. They are saying there may be several issues going on with us. I hope we came to the right place to figure out what is going on and the problem. Dr.Louie said be patient that it may take a little time but they don't understand cause I am so sick and then Nicolas it gets very frustrating. I hear that the NIH is great but when they are not exactly sure it gets very frustrating cause it is not helping us now with these problems. What do you think about all this? What would you do? How would you feel? Thanks so much Fran Sacora mom of nicolas 12 Fran Bulone <fbulone@...> wrote: Hey Sacora, I sent you a response to your personal email and to the group. I will copy and paste it again. Sacora, Wow you had a long productive trip. The results show something is definitely going on with your immune system. There are many disorders which cause this and this is why the docs are concerned. From Chron's disease to Fever disorders to lupus to JRA etc... These disorders are all auto-immune. Your values are high so they are all working overtime for some reason. These are specific cytokines which effect inflammation. http://en.wikipedia.org/wiki/Natural_killer_cell This explains the background of the NK result below. I have not heard of this before. I gather it is a newer value done when they suspect immune challenges. The Nuclear antibodies are a value used for immune disorders. I have seen it when diagnosing. ph had this one too. as he had the complement studies. The value again indicates immune disorder. None of these are specific.. They will look at all of these along with other tests to find out what is wrong. Definitely more testing is needed. The atelectisis means you had a collapsed lung at some point in your life. The Splenule is a tail on the spleen. You are blessed to be at NIH. they will get to the bottom of this so you can get adequate treatment. Fran Fran A Bulone Mom to ph 7 yrs old Waxhaw, NC Owner & Moderator Group <> Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 25, 2006 Report Share Posted June 25, 2006 Sacora, You are in the best place for a rare diagnosis. You will need patience. BUT look how many years you have been suffering. and mis-diagnosed. You are helping yourself and your son and maybe other people too. As I said, your immune studies are way off. and that is why they are focusing on your immune system. The disorders you list all overlap. in many ways. It will take time to get an accurate diagnosis. and still you may end up like many of us and not get a specific diagnosis. Still. you are in the best place. You and are in my prayers. Fran A Bulone Mom to ph 7 yrs old Waxhaw, NC Owner & Moderator Group <> Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 12, 2006 Report Share Posted July 12, 2006 Sacora, I wrote to you personally regarding fundraising. I have coordinated at least 20 fundraisers for Children with HIV who needed Safe Homes; for Nursing Organizations and other people in need including private donations for a child Shot by his father and left blind and needing rehab. This Needs to be coordinated through an attorney and 501C3 are critical. I explained to you that IF you are ON MEDICAID. or receive any state funds, you become liable to pay back funds to the state insurer. I am unsure if you are on Medicaid (I thought you mentioned in a post a while back that you are on State Insurance) or if you get any form of state run insurance such as Kid-Care.. But this is critical to know before you set up any PERSONAL fundraiser. When you set up a fundraiser as I did for my friend who has lots of medical bills along with rehab bills which will continue over the next few years. this income is still taxable. You cannot simply create a fundraiser and collect the money and forget about it. The people donating usually want tax credit and the people benefiting will need to show how the money is used etc. I am sure Lori can assist you as I can. So are you guys on private insurance? Or uninsured? Or on state run insurance? The federal laws are different depending on how you are insured and how the money is spent. God Bless Fran Fran A Bulone Mom to ph 7 yrs old Waxhaw, NC Owner & Moderator Group <> Quote Link to comment Share on other sites More sharing options...
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