COPD V STAGE, ALPHA-1ANTITYPSN,CGD

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

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12 Replies

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  • Welcome to the site, Cywebber. What a time you've been through with your health. Well done for proving the medics wrong and out-living the 2 years they gave you. Good advice indeed about getting the alpha 1 antitrypsin test. All the best, M.

  • Thank you.

    You have a good day ☺

  • Wow! I don't even know what to say. It all sounds so hideous for you; some of us do not realise how lucky we are. I hope you get some enjoyment out of life, despite everything thats going on. Is it possible you might get these transplants you need? Maybe go back to the specialists/ see a dietitian; see if a special diet can be worked out; also is it possible you could do some light exercises for your muscles/to strengthen you up a bit? You are very young and everything needs to be done to try and see if you can have the transpants/get you on the list. xxx

  • Thank you. You have a good day.☺

  • Hi cywebber, I have alpha 1 ZZ, I'm 44, diagnosed 4 yrs ago after been told I had copd first too, all my kids are mz ( carriers ) my specialist has told me my life expectancy is 51-55 without a double lung transplant, I'm on oxygen too. Xx

  • Hi Connie, So sorry to hear what you have been dealing with. I recently found I am a zz alpha too, but so far have remained in decent health. I am 58 so consider myself very fortunate. I am aware that many Alphas suffer terribly. I would reiterate your advice that anyone with unexplained copd symptoms especially, but not exclusively, younger people, ask for a bood test to check their Alpha 1 antitrypsin levels. I wish you well and hope you are getting adequate support.

  • For me any type of chemical smell from cleaners, pollution, molds, pollen to perfume isn't good for me. I had to find alternatives for cleaning supplies such as Vinager, Lemons, Oranges, baking soda.

    Thus far plain coconut shampoos doesnt affect me.

    If you have cats discontinue use of kitty litter when you apply, scoop or dump the dust goes into your lungs clumps like the litter does. Use alternatives more natural litter.

    I can no longer garden considering mulch, potting soil, and other types of soil contains a chemical that isnt good for the lungs.

    Your legs uses the most oxygen in your body walking is recommended.

    When walking practice breathing through your nose exhale through your lips as like your whistling. This also helps if you have sudden breathing attacks.

    Smoking of any type such as cigarettes, charcoal grilling, burning wood you cannot inhale it its bad for your lungs.

    Air conditioning is highly recommended vs fan.

    Humidifier with eucalyptus oil especially at bedtime keeps mucus from thickening during sleep and opens your airways more opened.

    Keeping your body hydrated daily by drinking water. My specialist stated a gallon of water a day. I usually add lemons, oranges, kiwis for flavoring over night for next day use.

    Eating healthy with high vitamn intake of fruits and vegatables.

    Vitamn D supplements especially.

    Your children should be tested immediately for statistics comparison keep the records to compare to.

    I went decaffeinated considering caffeine is a dehydrater.

    When Im sick I dont wait to get antibiotics, steroids my specialist will write 3 refills in case I need them and I don't need to wait to schedule appointment.

    Temperature of hot and cold isnt good for me to be outside. If I have appointments during those times I schedule summer appointments earliest in the mornings. Winter I schedule when the sun is the warmest.

    Body heat rises I've got to be cooled down.

    Personally Ive been a sickly child around my 20' s I was having lung issues of infections, bronchitis, asthma, increased ear infections. By the time I was 30 I was in stage 2 of COPD and discovered Emphysema.

    43 stage 3, diagnosed with Alpha-1 just before my 44rth bday immediately started on prolastin-c weekly infusions. Before my 45th bday I was in stage 4 my end stage.

    My then specialists stated if my prior specialists would have diagnosed me with Alpha-1 earlier I would've had a better shot at longer life span.

    I'll be 46 in a few months and I fully believe prolastin-c has increased my life span.

    I've surpassed the 2 years I was initially given when I was 43-year-old. Considering October 2013 was my 3rd stage and I was rapidly into Stage 4.

    My other health issues are related to A1pha-1: CGD, rheumatoid arthritis, osteoporosis, fibromylasia, vitamn d defeicency, hypoglycemia, depression, headaches and several other issues.

    All I have is time right now.

    I haven't fully accepted my own death. However, I am prepared.

    I'm hoping Alpha- 1 can find a cure for future generations of the World. Instead of the in the mean time.

  • You are. Good. Wow you know your onions. Inpressed. Paul

  • Cywebberiam. Sorry. What I meant is the wAy you

    explained. You condition. Well. You have many and are very ill. But the way you dscribed Empysema wow. That it explains to a tee. I can relate. Maybe not as bad. But. When I was a kid. Always bad. Chest. And. Wheezy. Alway S infections. Finally. Told I had. Serious COPD. When 42 that 10 yrs ago iam. Really new. To this site. But. It's. Seem. So. Nice. How. Long as. Been. Going you. Must be so strong. How. Do you do it. I know. Really you have not got option you just. Have to. But. Easy for me to say as I only have. Empysema your. Another. Star. Keep. Shining wide and far. Your love. For. Those. Hold no bounds for you are. Surly are. A true. Fighter. How. You do. Lord. Only. Knows

  • It sounds as though you are doing your very best to help yourself deal with this. Thanks for all of the advice. I enjoy walking so do a lot of that, luckily I live near the countryside so can avoid traffic fumes, which are horrible. I find the smell of many things very unpleasant these days and try to avoid them. I would add freshly cut grass to your list of troublesome odours! I used to love that smell but not any more. I hope they do find a cure soon. Gene editing looks promising but will probably take a few more years. In the meantime it would at least be something if the replacement therapy was provided to everyone who needed it.

  • Connie. . You. Poor. Lady. I have. A1AD. Type piz 1. And it's a. Nasty illness. I am lucky. That's all I have. Can you tell me. Where. Your back ground. Where. Grand parents came from here in the uk. They do not do. Prolastin . transfusions and no one. Does. Helps fight. I know you have other. Serious illness. But. Sometimes just. To make a cup of tea. And sandwich can take. 30 / 40. Mins. And. Just. Trying to stand and brush. My teeth what. I have left. Is I possiable and have to sit. I. Not. Sure I. Could. Take. Any more. That what I have. Life is unfair. Some people. Just born and never I'll. and live a long healthy life's. The lucky sods. It's been said that kids with. A1AD. Have a high chance with liver cancer. As it's is a liver. Illness Connie. I thing you are. A star. Shinning bright. I surpose. We just can only do how best. To carry on. And be good and not complain. Have. They said you could get a transplant. If. You lose weight ? Would you want one. They said I will. Maybe get one when iam 56. Iam now 52. I have been on o2. Ambulatory when moving about but struggle carrying o2. Bottle. But. I still. Live life. Alright I was housebound though. The winter but now. Spring I still. Get out and believe it or not I have a small motorbike. As I use to. Only up until 2 yrs age. Massive ones they weighted 5. Of me I love powerful bike and been in to them since I was a kid. Of 10 -12yrs. But the small now. As to. Have a extra. Wheel. And there's no power but. It's still fun and I can corner like. Crazy . Due to. The 3 rd. wheel. Well. Girl . Take care. And. All the best. Keep. Shining. Bright. Good bye. Paul.

  • On both sides of my parents there are severa lung issues as asthma, bronchitis, emphysema, copd, lung cancer, cystic fibrosis, pneumonia, rsv several other lung issues. Also, liver disease and pannetisus

    Im the first to received a diagnoses of Alpha-1.

    My parents are divorced. However signs through my sisters on my fathers sides show through some of there children. I try to explain to my sisters get their children checked but they ignore it. You can lead a horse to the water trough but you cannot get it to drink it.

    Once I was diagnosed I immediately had my children genetically checked and each child received the gene.

    I receive weekly treaments of Prolastin-c infusions. I am from the usa. However my ancestory leads back to England, Scotland, Ireland, Germany, and Native American.

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