Update on Madisson.. Apologies for lengthy post. :-( Madissons Sweat Test was once again (Borderline- 40 - 59 mmol/L = intermediate means that CF is possible.) Maddies sweat test was 58.. What does this mean? A chloride sweat test helps diagnose cystic fibrosis (CF), an inherited disorder that makes kids sick by disrupting the normal function of epithelial cells, which make up the sweat glands in the skin and also line passageways inside the lungs, liver, pancreas, and digestive and reproductive systems. Kids who have CF are more prone to repeated lung infections. The sweat test measures the amount of chloride in sweat. Kids with cystic fibrosis can have two to five times the normal amount of chloride in their sweat. Madissons chloride levels ARE registering higher than a normal person. In 2011 Maddie had genetic testing. It confirmed that she is a Carrier of the most common CF gene, Delta F508... But because it was for only 95% of mutations, there is strong possibility a repeat genetic test will be necessary to see if there is an underlying Uncommon mutation. (Yes, this opens up a whole new mass of unknowns? And we will deal with that when the time comes. ) Next Tuesday Madisson will have a standard CF patient Dr appointment. It will include a full blood work-up, along with sputum cultures to see if she grows any of the harmful CF Bacterias. Within the next week or so, we should have her labs from the pancreatic insufficiency test. This will help determine if this a CF diagnoses or CRMS diagnoses. Drs are also scheduling appointments with the ENT that specializes in treating CF patients, because the CT scan did show signs of Chronic sinus disease. There are so many things factoring into all of this. So many questions so many thoughts. And I know many have asked. Why are they just finding this out now?? The only thing I can say is that CF is a VERY complex disease, as the science advances Drs learn more. It certainly does explains many of Maddies stomach issues as well as sinus and respiratory complications she has had through the years. Im sorry this is so long, hope it makes some sort of sense, like I said earlier this is all very complicated. And right now they are going to proceed as if Madisson does have Cystic Fibrosis Related Metabolic Syndrome. If all other test come back with any red flags they will then change diagnoses to Possible Cystic Fibrosis if genetic test shows another gene mutation we know we are in fact dealing with Cystic Fibrosis. X
Posted on: Thu, 05 Jun 2014 21:39:42 +0000
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