WELL. Three weeks ago whilst were were sitting in the Pulmonary Specialist’s examination room waiting we read a pamphlet…you know the kind bright purple in a box…fine reading material…about some deficiency you have never heard of. The Doctor entered the room and noticed we had the pamphlet out….she asked “Do you want to be tested? I have never had anyone test positive.” We replied “Sure why not?”
The results came last Friday, the print was too small to read in the online test records. The Doctor called yesterday morning. Yes she said, you have it…a Alpha-1 antitrypsin deficiency.
Simply as if “gene” “stuff” is ever simple. It is hereditary. Your liver produces and sends out a substance that protects your lungs and liver from infections. If your “gene” is messed up then you have no protection…enzymes produced normally in the liver can run wild through your bloodstream attacking your lungs and liver.
Anyways… Far Guy will be getting weekly IV Infusions for the rest of his life. The deficiency can be treated, he won’t get better…but the progression of his lung disease should be slowed down.
The other things recommended are to keep exercising, eat healthy, stay away from germy people and out of smoke, dust, fumes and smells ( perfumes, aftershave, essential oils) that may irritate your lungs.
We are a bit bummed out that someone didn’t think this might be a possibility before now. The a$$ whole Doctors that used to say “We don’t just give out antibiotics for anything.” or “You will get better after a few more weeks, these colds have to run their course” I have to remind myself that they are still just practicing medicine.
1% to 3 % of people have a Alpha-1 antitrypsin deficiency (A1AT). Coupled with his Trigeminal Neuralgia (TN) 1 person out of 15,000…Far Guy is really special. I told him to buy a lottery ticket.
Bottom line is this, if you or someone you love is diagnosed with Emphysema they should be tested for the deficiency…as with anything else IF they catch it early it can be treated before huge irreparable damage has occurred.
We have heard through the grapevine that Infusions are $8,000 to 20,000 a month. I guess we will find out how good our insurance and Medicare are.
Oh dear. Not the kind of special anyone wants to be. But at least there's a bit of (wildly expensive!) treatment that might help.
ReplyDeleteLoved the picture - my father had a Desoto.
How frustrating to just be finding this out. Thank you both for sharing this so that the info might help someone else. I hope ins/medicare do the right thing and FG can receive what he needs.
ReplyDeleteWell, you always knew Far Guy was one in a million. Hope having discovered this helps his health. He and you have been through so, so much these past few years. Sending prayers. Lung problems are scary, even when they are the more usual kinds.
ReplyDeleteSuch tough news. Hoping and praying your insurance surprises you with good news and that this makes Far Guy's lungs better quickly. Yes "practicing" medicine is about right, sadly.
ReplyDeleteI can't believe no doctor thought to have Far Guy tested before this. What a shame, but at least now he can get treated for it. Let's hope Medicare and his insurance surprise you and pay for most of the treatment. Thanks for sharing this info with us; I'll be sure and pass it on.
ReplyDeleteI am devastated at this latest health news for Far Guy. As if TN weren't more than enough. Prayers for you both and that Medicare and health insurance will come through.
ReplyDeleteShirley H.
I wish someone would have figured this out earlier for FG. I do hope you get it paid for, but maybe it will make a difference in his life now. And a pretty picture of a Desoto just for grins! :-)
ReplyDeleteOh no. Not good news, although sometimes it is a relief to have a name for something, and an explanation for why things are happening. A reminder of how much you have to be an advocate for your own health. I hope your medical coverage comes through and the transfusions make a difference for Far Guy.
ReplyDeleteWOW - truly very interesting information. You could probably contact "The Doctors" TV show and FG could be featured on a segment - - - and many, many more people would hear about it. So very very sorry too that this wasn't discovered earlier but am glad they found it now. He does not need to deteriorate anymore. I am sure you are going to pass this information back to some of the others who have treated him! They need education, too. There is a LOT to have to know in medicine. Hopefully they will receive the information graciously.
ReplyDeleteBittersweet news - hopefully, the infusions will make things easier for Far Guy.
ReplyDeleteOh gosh - so very very sorry to hear this! All my love to you both.
ReplyDeleteWhy is it that sometimes good news is followed by the bad news ($$$), I'll be thinking of you and this new challenge for Far Guy.
ReplyDeleteI am wowed that there is a test and that they have medicine to help it, but I am shaking my head that it cost that much money for the treatments! That is crazy!!! But I hope that you don't have to pay that much. I guess it's just like anything else- they charge an arm and a leg so that insurance will pay them more back on it.
ReplyDeleteSorry to hear about Far Guy's condition, but I'm glad it's now been identified and can be treated.
ReplyDeleteOh! WOW! Gosh, I'm so sorry!
ReplyDeleteLinda
http://coloradofarmlife.wordpress.com
We have a local weather man who is going through this right now. He all of a sudden found he had no resistance and was told he won't have any from here on. He isn't back on the air yet as his body is still trying to figure out what to do with the treatment. I hope Gene's treatment will start to take off for him so that he can feel better.
ReplyDeleteThe Bennie has appt with his doctor next week and I will see that he gets tested.
ReplyDeleteWhy O Why did they miss this. Thanks for the info.
And what if you hadn't checked it out, and been reading it when the Dr walked by? All the what if's? Thank goodness they have a answer for his illness. Yes it's expensive, and I can't imagine what a hassle it will be, but hopefully this will stop the progression.
ReplyDeleteJen
It's hard to get medicine to connect all the dots. I hope Far Guy does better with this.
ReplyDeleteOh no!!!!! Not great news for Far Guy at all but glad he can be treated now.Blessings Francine.
ReplyDeleteGosh, that sounds complicated...and expensive. Sure hope it helps Far Guy. Daddy drove a Desoto.
ReplyDeleteWow. That's all way to haphazard a way to find out what's been causing him so much trouble for so long. But then maybe science has just caught up with this condition?
ReplyDeleteKeep us posted about how the medication helps and what kind of coverage you get. I wish you all the best in dealing with this new information.
What a fluke-y way to find out, but glad you did. I hope insurance will cover it. So glad it is something that can help keep things at bay!! That's good news. :)
ReplyDeleteYep! The golden years when you find out that the meds are going to take all the gold you have and more!
ReplyDelete:-/
ReplyDelete