Hi my name is Connie Im 45-year-old with Aplha-1 Antitypsn zz Genetic disorder and Chronic Granumotous Disease (CGD) with several other health issues that seem to be connected with two major diseases.
Im in my last stage of COPD V. I use oxygen 24/7
My O2 levels are 96-98 with oxygen yet I struggle to continue to breath.
When I take off the hose during supervised walk testing my oxygen drops to below 80.
Also when they give me a breathing test in a machine thats made of glass.
They say your legs absorbs the most oxygen vs your lungs so I try to walk as much as I can within my home.
Pursing your lips (like your whistling) as you walk or even as you sit helps breathing rythem. As well as when your short of breath.
I was diagnosed with Alpha-1 and CGD at age 43-year-old then I wasnt on oxygen until I was 44-year-old.
Breathing is difficult day and night.
Being an Alpha-1 I receive weekly treatments of infusions of Prolastin-c.
My body cannot produce AAT protein which is necessary to protect your organs and fights away infections or viruses. My body is fighting against itself.
With additional health issues RA, headaches, osteoporosis, low blood sugar, vitamn D deficiency disorder, diverculitis many more the list is long.
Alpha- 1 affects Lungs, liver, pancrease. Heart due to lack of oxygen there is no cure.
CGD affects lungs, heart, brain cure bone marrow transplant.
As a child I was a sick child always having some type of infection going on.
Today isnt so bad considering the infusion which I believe is stretching my life out a bit longer. As well as my lung specialist keeps me in antiobotics when I need it.
I get sick it can take months to get better and hope not to relapse back into sickness after antiobotics.
Technically October 2013 i was given 2 years to live.
I decided to vacation to my aunts in Alaska. I ended up deciding to live in AK figured that be my last days there and my then 17 and 21-year-old children could have someone to lean on for comfort as my time nearer to my final stage of life.
A doctor from Anchorage Alaska listened to me and asked if I was aware of Alpha-1. Of course not never heard of it. Received my test results through the mail and I called immediately. Just so your aware the drive was 6-8 hours to see this specialists where I lived didnt have lung specialist in the location. I was a bit shocked my test results was in the mail. Very Busy state I suppose for medical or just bc I was so far away.
I won't lie I cried when my results came back from relief of finally knowing after all the years what was wrong with me and what Im facing. Reality truly slams you hard sometimes.
He set up an appointment following month explained my diagnosis immediately placed me on Prolastin-c then test me for blood work, thyroid and chest x-rays yet CGD was discovered.
I got with Alpha- 1 coordinators man do they fight for you every step of the way.
I had to move back to Ky bc there was no lung transplant centers in AK at that point in time.
I need two lungs and a heart transplant. I cannot even get on the list bc of my weight. My weight goes up and down like a yo-yo.
In February 2013 i was nearly 300 pounds went down to 198 in April same eating habits, same job which your constantly moving. There was no explanation of why I lost weight so quickly.
Alaska 198 to 148 I flipped flopped during the one year living there. Back to ky in 2/2015 by the time I seen a lung center was around 6/2015 my weight went to nearly 300 lbs again.
Today 4/22/2016 Im down to 217 same eating habits no exercising ive been losing muscle severly its a struggle to pick up a gallon of milk here lately its getting harder to walk.
If you have any type of lung disorder from asthma to Lung Cancer get checked out for Alpha-1 Antitypsn genetic testing is the only way to accurately diagnose it not just run of the meal blood work will do it.
If there is someone who is younger than I am and can catch the Genetic Disorder early enough you can have your life expanded longer than mine.
Do not put off being tested and if your doctor refuses to Genetically test you demand it. I never knew nor did my parents or their parents before them.
I was given diagnoses of COPD 2nd stage when I was 33-year-old
My lungs look like raisens and age of a 180 year old lungs. If you smoke stop smoking.
Being a zz Alpha- 1 Outside isnt good for me nor any type of chemicals I can smell. I can venture out but Ive got to be cautious with just not outside smells but the slighest sneeze of somebody else.
I can no longer enjoy bon fires because of the smoke anything that has smoke I cannot be around nor can I plant anymore due to a certain chemical thats really bad for lungs in mulch nor potty soil and such other types to plant with.
All my children are carriers which they are all MZ alpha-1 since Im a zz.
Zz is rare occurence not too many zz Alpha-1 compared Mz.
Zz I had to get from both biological parents one z from each parent. Same with CGD a gene from both parents which is rare in women however both parents must carry the gene.
MZ comes from a parent thats a zz or one parent thats a MZ carrier.
God Bless you all much love and peace