Oct 28, 2016
The patient began to have episodes of wheezing and shortness of breath in his 20s. These symptoms did not improve with inhalers, but did respond to prednisone. His asthma flares continued to occur 1-2 times per year and between flares, he felt well.
In his mid 40s, the patient began to have asthma flares more frequently. He lost his sense of smell (anosmia) and was found to have nasal polyps. A surgery to remove the polyps (nasal polypectomy) helped his symptoms; however, a month after surgery he developed a foul odor and taste from his right sinus. Antibiotics were unable to relieve his symptoms and his polyps came back, along with mucosa growth. He had two more surgeries and has had severe, constant sinus congestion ever since. Since then, cultures have been positive for Staph, mold, and pseudomonas.
In 2012, a bulging, weakened wall of the aortic root (ascending aortic root aneurysm) was found incidentally on a chest CT.
The patient has also developed a “cold” feeling in both feet and a sense of pins and needles, which has been moving up his legs. This sensation has progressed to involve the arms.
Clinicians and researchers have identified the following genetic changes to be causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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