Help needed, please

I have recently met a young woman, who has been seeking answers from doctors regarding her health. As she told me of her symptoms, I had a strange sense of Déjà vu. Her symptoms sound very similar to Reilly's. Of course, CF is always forefront in my mind, so I asked her if she had ever been tested for CF. She said that she has taken the sweat test, but her results were negative. She was unsure what the actual result numbers were, just that they were negative. After telling her about Reilly, she was kind enough to offer Reilly one of the nebulizers she has received, that was extra. We have really used it, and it has been such a blessing. But, her symptoms kept popping up in my mind. I wondered if she has true negative results, or if they were borderline, or if the test was even done correctly. Through this week, we have been corresponding by email, as she was asking about Reilly's vest and treatments. After receiving an email that laid out all of her symptoms, I decided to bring it to you...those who know CF personally, as well as many other types of diseases. It seems that a medical degree should come with a diagnosis like CF, and I thought that it would be beneficial to her to have your input. I asked if she minded if I asked my friends in the CF community these questions, and she responded that she would love to have your input. So, her are excerpts from two of her emails to me this afternoon. Help me, help her. She has been struggling for years, and it sounds like she is not getting any answers. She has gone to great hospitals (Duke for the sweat test, Johns Hopkins for other care), but she still has not been diagnosed with anything. Here goes:

Symptoms in her own words:

Chronic Cough, Major Shortness of Breath, daily fevers, exhaustion (I get really worn out easy and have to stop several times when walking long distances), joint pain (very painful joints, it feels like it is in the bone) and my left lung area is painful, extreme mucus (it is very sticky and thick, sometime yellow and bloody), stomach issues and reflux issues (either upset stomach or constipation it goes back and forth), and my bowels have mucus and sometimes blood. Constant respiratory infections, diabetes (which we just found out when I got sick two years ago) night sweats (when I take naps or sleep I will wake up wet, and sweaty), rashes on my face and chest, appetite goes up and down, headaches, the list goes on. I was always way under weight until the last year being on so much prednisone. I would get two meals and two desserts from colonial all at one meal time and loose weight instead of gaining. The prednisone has made me gain over 20 pounds in one year. When I was younger I wasn’t a healthy child. I remember having stomach issues, but the only thing they diagnosed me was asthma as a child.

Current treatment plan:
I take Alvesco which is a new drug on the market from Europe, an inhaled steroid. I believe thus far I am the only patient in EC who is using this drug. My Doc from Duke started me on it; I was on the Pulmicort (nebulizer form) however the Alvesco works much better. In the nebulizer I take Xopenex 1.25 every 4 hours, Acetylcysteine (mucomist) it is used with some CF patients, it thins the mucus, but smells and taste like rotten eggs. The drug does liquefy the mucus and helps. They have mentioned the Pulmozyme but said it could make my cough worse as the medication can irritate the airway. So we are going to use that as a last resort for now. I use regular saline in the nebulizer as well and that helps moisten the airways. At times depending, on my cough I use saline mixed with lidocane to numb my airways and help stop my cough so I can rest. Once I start coughing I can’t stop with out help from Tussinex or Tessalon pearls, but sometimes they don’t work, just depends on the day. I also get Xolair injections and Allergy injections to possibly help my breathing (or that’s what they hope). The Doctors did say these injections both Xolair and Allergy shots will take a while maybe years to see a difference. Please share my story with others, maybe it might strike an idea to someone, you never know.

Ideas? I recommended to her that she have the blood CF test, and have it sent to Quest labs. It sounds a lot like CF to me, but I know there are many, many other things it could be.