lizimerkle

About Me

I am 41 and found out I was MZ 3 yrs ago while suffering from walking pneumonia. I was a gymnastics coach and suddenly developed shortness of breath, dizziness and my legs felt like lead. My mother was A1AT def in her liver. My Aunt, God bless her, died from Emphysema approximately 14 years ago when the doctors still didn't have a genetic classification for unexplained emphysema. My uncle fortunately had a double lung transplant 3 years ago and is doing fantastic, Thank God! My mom was one of 12 and we suspect 6 are A1AT but only 3 were dx. I recovered from SOB and lead legs (my O2 sat was extremely low upon elevation) once I quit coaching and was no longer exposed to the pollution (gymnatic chalk and foam particles). My husband is in the Army and we currently live in Belgium. I have always been very physically active, I work out excessively. I began experiencing uncontrollable muscle spasms that contort and freeze as well as lower extremity edema. For several years I have had sporadic bi-lateral pins and needles from waist down. For the past year it is pretty constant. (I have had CT scans and MRI and neuro test to rule out spinal correlation) I have gained at least 15 pounds in 6 months due to hypothyroid. Recently I drove to Paris and then walked around the city all night only to find my legs and feet grossly swollen and my calves were fire red and hot in the back and stasis dermatitis in the front (looks like horrible red blotches but under the skin). I saw the doctor 3 days later when we returned home. He gave me water pills and told me to follow up with a different provider. Since then I have developed chest pains. During working out on Monday my heart was being squeezed and when I sat a passed out (only for a second). I spent the day in the ER to find everything was normal (except liver functions). They were surprised I wasn't even dehydrated but I am an avid water drinker! So now I am left with seeing a cardiologist in Sept, hopefuly to undergo a stress test to see what happened. I really want to know if any MZ alphas experience similar problems and how do they get their doctors to find answers. My doctors are willing to try everything. It just seems that on paper I am the healtiest person around. I have a very high pain threshold and tolerance. I gave birth to 3 beautiful babies w/out any meds, not even a tylenol; and my last one was 10.5 pounds! So I don't think I am whining. I am just trying to avoid the problems my mother underwent. My mother was dx with hypothyroid at about 44. She suffered for years from edema and reddness and itchiness on her lower extremities. No one ever knew why. She died from pancreatic cancer at 58, 8 yrs ago. So I have led my life as healthy as possible: No drinking, no smoking, eat healthy and exercise excessively. But looks like genetics have a stronger play. I would love to hear from other alphas.

I am 41 and found out I was MZ 3 yrs ago while suffering from walking pneumonia. I was a gymnastics coach and suddenly developed shortness of breath, dizziness and my legs felt like lead. My mother was A1AT def in her liver. My Aunt, God bless her, died from Emphysema approximately 14 years ago when the doctors still didn't have a genetic classification for unexplained emphysema. My uncle fortunately had a double lung transplant 3 years ago and is doing fantastic, Thank God! My mom was one of 12