Alpha one antitrypsin deficiency

I wondered why my fev1% was so low, yet my gas exchange is in the moderate area. Most alphas have basal emphysema which effects the lower lobe of the lung first. The gas exchange, dlco, is commonly not effected as quickly as in other emphysema types.

The gravitational pulmonary blood flow is why most alphas have basal damage. The alpha protein neutralizes the enzymes like elastase from continuing to gobble up normal lung tissue. Alphas lack enough of this protein which is produced in the liver. So I guess an elementary analogy could be scrubbing the same spot on a linoleum floor until the pattern is gone, scrubbed through. So you see the back of color of the linoleum.

[patmc1]

same effect on Alpha 1 carriers????

[Hidden in reply to patmc1]

Three of my children as we are a blended family, are MZ carriers. Two of them are showing signs of disease. One is not.

[megshafer]

Apeter7874 I have been reading on emphysema and of course Alpha 1 comes up alot, as many researchers think all emphysema has a bit of Alpha gene's, makes sense. Also, Alpha 1 is very similar to Cystic fibrosis,in its progression inside the lung. I thought about you as I read that. Do you think that the new Vertex medications (off label) could be a big benefit for you? I have access to a college library!! Just got permission!! So much to read and research of course, I have my nose in the pulmonary section!! As, you know researchers all say different things...but I am going to continue going there. Do you have any paraceptal emphysema? Showing in your CT scan?

Happy New Year to you and your family, hope 2020 is good to you,

Meg

[Hidden in reply to megshafer]

Yes I do at this point. The first ct scan showed basal damage. The last ct scan showed some damage in all lobes. Small bullae. So the disease has progressed and will continue to do so. I have long hyperinflated lungs now. Bending over is quite difficult and takes my breath away. I’m surprised I’ve not had a pneumothorax yet. Or a PE. There is one other male about my age with my disease living close to me. He’s had both. He is on augmentation and has been for years. I opted not to do the augmentation after much research there is no absolute proof it helps. In my opinion only, the infusion is a foreign body my immune system quickly gets rid of and only a very small percentage of it ever ends up in the lungs anyway. My opinion only! The other man close to me doesn’t seem to have been helped at all by taking the augmentation. Again my opinion only.

[megshafer in reply to Hidden]

The new Vertex medications were just released and FDA approved in December 2019, so very new. Hopefully, it or a new medication or medical advancement (cure) will be a forthcoming in 2020, that will stop the progression or make emphysema, like polio, a disease of the past where it truly belongs.

[Hidden in reply to megshafer]

I’ve accepted that my lungs are very severely damaged. In keeping with reality, nothing in my lifespan that I’ve got left is going to undo the damage. I eat right, exercise a lot. That’s all I can do.

[Hidden in reply to megshafer]

What meditation is that? What lung disease is it treating or is it just treating symptoms

[Hidden in reply to Hidden]

I have alpha one antitrypsin deficiency and my genetic type is ZZ

[Hidden in reply to Hidden]

So if cf is similar to your condition cant you have that treatment or am I being stupid here

[Hidden in reply to Hidden]

Some alphas lung damage is similar cf. mine is a bit different. My damage also is so extensive at this point the outcome is inevitable. I have comorbidities that wouldn’t allow me to qualify for transplant.

[Hidden in reply to Hidden]

Have they said you woukdnt qualify

[Hidden in reply to Hidden]

No however I’ve done enough research to know I won’t. It’s not something I want anyway. It’s got its own problems. Just going through the process of ultimately being denied is very expensive. These types of illnesses bankrupt a person. I don’t want to do that to my family. Not much quality in life being put in poverty.

[megshafer in reply to Hidden]

Hi Emily, hope you are feeling alot better!! Alpha one is a type of genetic emphysema. There are infusions (medications) that help them with a protein or what is missing in their blood. But, it's not a cure!! I have been reading alot on the Vertex Medications and they are working on one for Pulmonary fibrosis. Both CF and pulmonary fibrosis are very close diseases to our own, so maybe, just maybe one will help us!???

[Hidden in reply to megshafer]

Do you know what Meg I hope so..tired not so much coughing. Just still hoping our breakthrough is near.

[Hidden in reply to megshafer]

It's ok looked vertex up CF got excited there

[Hidden]

Much tired coughing not as bad. Thank you I thought it was a drug for emphysema. But here's hoping. But good news all the same.