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.