Friday, July 12, 2013
So, it was about one year ago that the doctor sat me down and explained that I am alpha-1 antitrypsin deficient with the PiZZ genes. I went on the computer for about 2-3 hours a day for the first month just trying to get more information. I joined a chronic obstructive pulmonary disease (COPD) support group because my illness fits under the COPD umbrella. I have learned a lot about this genetic disorder. I have passed on one of my Z genes to each of my children. I hate that one. And life has changed. There are many "new normals" to my days. I have to say that I'm not really happy about any of them, but then honestly I'm not really unhappy about most of them either.
I've been thinking more about what it's like to live with a terminal disease lately. I think the shock is beginning to wear off and life is somewhat stable. If I die from alpha-1 deficiency it will probably be a long time from now. Unless something gets more complicated I'm guessing this will be a very slow deterioration of my lungs. That's a good thing. For all the rest of my life though I won't be able to run around and dance like I used to. And I feel sad about that. It's much scarier and harder for me to go anywhere. And I feel sad about not being able to just jump on a plane to go visit Mom or jump in the car to go visit Joni or Brad or Wendy. Some of that is my being scared of getting sick and landing in the hospital with no insurance. Some of it is understanding my limitations. I get short of breath walking outside to take the trash out. I have to stop and rest when taking an armload of laundry to the garage. When I do dishes I lean against the counter the whole time. These are pieces of my new normal. Not horrible, but not fun. At first doing these things felt like a slap in the face each time and a big reminder that I am sick. Now they feel like a little sting, and oh yeah, I have to rest and catch my breath after I do that.
Life in the Sierra foothills is so pleasant, I can't be too sad. I walk out on the deck and look at the valley and the Coast Range and it is beautiful. And everytime I see my husband's smile, well, see, life is good. If I talk to the kids or the grandkids that is an extra special bonus to my day. And I love talking to Mom. I am happy.
Back on infusions
It took one month, but we finally got all our i's dotted and t's crossed, and I had an infusion of Aralast last week with another one scheduled for tomorrow. It looks like we'll be okay with Baxter's help and generosity until 2014. Baxter is the pharmaceutical company. The Affordable Care Act sounds as if it will help me continue to get my infusions. We shall see.
So, do the infusions make a difference? I think so. They are supposed to slow down the degradation of the lungs. The infusions do not make me better as in restoring my lung function. That is gone. We are attempting to keep my lungs where they are for as long as we can. My pulmonologist feels like I'm doing pretty good. Oh, so that's what this is. He says things like "At least you're not on oxygen," and "you still get around on your own." When he says these things I feel like I need to be stalwart and strong, but I don't always feel that way. And he has seen others who are in worse health than me and I totally realize that. And I am happy for the health that I have, and especially I am happy for the health that I have had for my whole life. He only has one other patient with the same exact disease, but lung disease is not good no matter what the etiology is.
My weeks off the medication were not great, but I couldn't tell for sure if I was losing more lung function. The infusion did brighten my mood for sure. I don't think that was an effect of the drug but more a feeling of hope that I'm not going to slip away too fast.
This disease is quite troubling to me. I don't know how much to push myself. I guess I could just keep going until I can't breathe anymore and then stop for awhile and catch my breath. Actually that pretty much happens every day anyway. And yes, it does suck. Yesterday I was saddened by the fact that talking to my sister on the phone for 45 minutes, while sitting on the couch, left me completely exhausted. Arrrrgh.
That's enough of that. My personal pity party is officially over this morning.
Yay for summer! We set up our above ground pool and go out and dip in it pretty much every day. It gets hot in these here foothills.
Elliot turns 5 in June. We are having a party for him at the lake. I am really excited about it! He wants an Angry Birds theme. And definitely a pinnee-yata with lots of candy inside it Gotu. (Gotu is my grandma name = goddess of the universe). Of course Elliot, anything you want. Haha. Those grandkids put a smile on my face just thinking about them.
P.S. Wow I wrote this a while ago and never published it. Before Elliot's party, which was a big ole blast!
So, do the infusions make a difference? I think so. They are supposed to slow down the degradation of the lungs. The infusions do not make me better as in restoring my lung function. That is gone. We are attempting to keep my lungs where they are for as long as we can. My pulmonologist feels like I'm doing pretty good. Oh, so that's what this is. He says things like "At least you're not on oxygen," and "you still get around on your own." When he says these things I feel like I need to be stalwart and strong, but I don't always feel that way. And he has seen others who are in worse health than me and I totally realize that. And I am happy for the health that I have, and especially I am happy for the health that I have had for my whole life. He only has one other patient with the same exact disease, but lung disease is not good no matter what the etiology is.
My weeks off the medication were not great, but I couldn't tell for sure if I was losing more lung function. The infusion did brighten my mood for sure. I don't think that was an effect of the drug but more a feeling of hope that I'm not going to slip away too fast.
This disease is quite troubling to me. I don't know how much to push myself. I guess I could just keep going until I can't breathe anymore and then stop for awhile and catch my breath. Actually that pretty much happens every day anyway. And yes, it does suck. Yesterday I was saddened by the fact that talking to my sister on the phone for 45 minutes, while sitting on the couch, left me completely exhausted. Arrrrgh.
That's enough of that. My personal pity party is officially over this morning.
Yay for summer! We set up our above ground pool and go out and dip in it pretty much every day. It gets hot in these here foothills.
Elliot turns 5 in June. We are having a party for him at the lake. I am really excited about it! He wants an Angry Birds theme. And definitely a pinnee-yata with lots of candy inside it Gotu. (Gotu is my grandma name = goddess of the universe). Of course Elliot, anything you want. Haha. Those grandkids put a smile on my face just thinking about them.
P.S. Wow I wrote this a while ago and never published it. Before Elliot's party, which was a big ole blast!
Monday, April 22, 2013
These drugs are ex.pen.sive
Another month has gone by. Happy things first. Spring is beautiful in the foothills. We have wildflowers and green hills as far as the eye can see. Deer have been sleeping close to our home, right down from the deck. I think Puppy has decided that deer are her friends. She still barks at the crows and hawks and vultures when they fly too low. She is so proud of herself for making them fly away.
We are having another issue with getting the Aralast infusions. Wow, it was going so well. I was feeling good, and pretty much knew what to expect of my breathing abilities. Then, ouch. No more funding. Aralast infusions cost around $120,000 per year. That's $10,000 per month and about $2500 a week. That's just for the medicine. There are also medical supplies to pay for, and the nurse. Since Bob sold his share of the surveying company we have not had insurance. That's been about 7 years or so. We did okay without it, until we found out about this alpha-1 antitrypsin deficiency. There is help out there for people in our situation. I have filled out enough paperwork to fill up at least 2 file cabinets since my diagnosis. And trying to keep it organized, well, where is Donnay when you need her? Anyway, I hope we are just between funding assistance. But it takes its toll.
Keepin' on keepin' on. That's what we're doing. And enjoying the ride while we do. Bob is the best, and life is good.
We are having another issue with getting the Aralast infusions. Wow, it was going so well. I was feeling good, and pretty much knew what to expect of my breathing abilities. Then, ouch. No more funding. Aralast infusions cost around $120,000 per year. That's $10,000 per month and about $2500 a week. That's just for the medicine. There are also medical supplies to pay for, and the nurse. Since Bob sold his share of the surveying company we have not had insurance. That's been about 7 years or so. We did okay without it, until we found out about this alpha-1 antitrypsin deficiency. There is help out there for people in our situation. I have filled out enough paperwork to fill up at least 2 file cabinets since my diagnosis. And trying to keep it organized, well, where is Donnay when you need her? Anyway, I hope we are just between funding assistance. But it takes its toll.
Keepin' on keepin' on. That's what we're doing. And enjoying the ride while we do. Bob is the best, and life is good.
Friday, March 15, 2013
Another infusion yesterday. The nurse is coming each week to do those. They are getting easier and easier. I still don't like them, but I do like Sally.
So the siblings have been getting tested. I'm not sure who wants their personal information on here so I'll just be general.
2 have ZZ
2 have MZ
1 has MM
And some of their kids have been tested. We have quite a mix there. One cousin is SZ. So much Mediterranean blood in our family tree. A few cousins have MZ.
With all these tests done we can determine that Grandpa and Grandma Grapes each had MZ. Neither had trouble with their lungs or livers that I know of. It's all that clean living. :)
Sometimes when I think of this it overwhelms me. Just one year ago I didn't even know that alpha-1 antitrypsin deficiency existed. Now it is a huge factor in the way Bob and I live our lives. And yes, it sucks sometimes. And it could end up being a factor in other family members' lives. People that I love most in the world.
I am happy that I was healthy while the kids were little and I could chase them around and wrestle with them and carry Amy everywhere. I miss those days. I love my kids.
I'm pretty sad today. I will have to answer questions next time. I wanted to write down and share my feelings of overwhelmation (new word) for our family. We could be the poster family of "Rare Genetic Disease Alpha-1". Fits us in more ways than one. :)
I love you all. Take care.
Aunt DeeDee
So the siblings have been getting tested. I'm not sure who wants their personal information on here so I'll just be general.
2 have ZZ
2 have MZ
1 has MM
And some of their kids have been tested. We have quite a mix there. One cousin is SZ. So much Mediterranean blood in our family tree. A few cousins have MZ.
With all these tests done we can determine that Grandpa and Grandma Grapes each had MZ. Neither had trouble with their lungs or livers that I know of. It's all that clean living. :)
Sometimes when I think of this it overwhelms me. Just one year ago I didn't even know that alpha-1 antitrypsin deficiency existed. Now it is a huge factor in the way Bob and I live our lives. And yes, it sucks sometimes. And it could end up being a factor in other family members' lives. People that I love most in the world.
I am happy that I was healthy while the kids were little and I could chase them around and wrestle with them and carry Amy everywhere. I miss those days. I love my kids.
I'm pretty sad today. I will have to answer questions next time. I wanted to write down and share my feelings of overwhelmation (new word) for our family. We could be the poster family of "Rare Genetic Disease Alpha-1". Fits us in more ways than one. :)
I love you all. Take care.
Aunt DeeDee
Sunday, March 3, 2013
Hi Everybody! It's been a while. I'll catch you up as best I can.
We went to the pulmonologist January 24th. They did the pulmonary function tests and found that I am pretty much the same as 6 months ago. I'm at about 31% lung function. What does that mean? I don't exactly know. My doctor has me labeled as severe COPD.
I missed 3 infusions due to insurance issues. And I got really tired/exhausted and frustrated from not having the infusions. My bruised and needle-poked hands healed nicely though. Today is March 3rd and I've had infusions the past 4 weeks and am feeling more energetic and happy. I'm definitely not one of those happy sick people. I would not be an inspiration to everyone in the hospital room, smiling and laughing, and keeping spirits up. Nope. I would just sleep and read and sleep.
I keep reading and studying about this disease. Here is what I have learned lately:
There are 3 main variations of the alpha-1 antitrypsin gene. There is the M, the S, and the Z.
These genes are codominant. M produces normal amounts of alpha-1 antitrypsin. S produces about 60% of normal. Z produces about 15% of normal.
Each person has 2 separate alpha-1 genes - one from Mom and one from Dad.
Each person is (pretty much) one of the following 6 genotypes:
(one gene from mom and one gene from dad)
1. MM produces 23.7 to 41.7 micromoles per liter (mcM) alpha-1 antitrypsin
2. MS produces 21.1 - 33.1 mcM
3. SS produces 14.6 - 31.0 mcM
4. MZ produces 14.0 - 31.6 mcM
5. SZ produces 7.5 - 19.9 mcM
6. ZZ produces 1.3 - 7.7 mcM
I am ZZ with about 4.5 mcM of my own alpha-1 antitrypsin in my blood. You can see that I'm very deficient on the scale of 1.3 to 41.7. The infusions bring that number up each week, but after 1 week my body has destroyed the antitrypsin so I'm back down again, hence another infusion.
So what about our kids? Our babies?
Since alpha-1 antitrypsin is produced in the liver, the liver can be affected by the abnormal S and Z genes. This is because the alpha-1 antitrypsin S and Z proteins fold up into abnormal shapes in the cells and cause problems. Watch for jaundice and hepatitis in infancy and childhood. It's pretty rare, but it does occur. And as one gets older, then the lungs present their problems - shortness of breath, emphysema.
Just a reminder of what the alpha-1 antitrypsin protein does. It destroys the (bad) elastase enzyme. The elastase enzyme cuts up the elastic fibers in the lungs making it harder to breathe.
I totally love learning about all this stuff. I'm having fun trying to put the information out there so that it is understandable. Don't hesitate to ask questions. I will answer them the best I can, and research the rest.
The alpha-1 antitrypsin deficiency is termed a "rare genetic disorder." Lots of research is still being done.
We are definitely seeing variations in those family members that have been tested. Maybe we could get Mom's blood tested. It is an easy test. We would have a better idea of what to expect as her kids and grandkids.
My email is deedee.granata@gmail.com
Easy breathing to all.
Wednesday, January 9, 2013
Hello Blog. It's been a month and 4 antitrypsin infusions since I've written. Amy's death day has come and gone for another year. And Joan's. And Christmas. And I can almost breathe normally again, except for this stupid disease.
The infusions have been pretty mundane, except it took Bob 12 sticks last time. My hands have needle tracks and bruises on them. Two of those sticks caused infiltration of the saline, one on each hand. That's a very strange look. Two liquid bumps that form immediately. It doesn't hurt except for the extra needle prick. I'm not complainin', just sayin'. I would rather be here at home with my husband than anywhere else in the world.
We got to spend some time with all the kids and grandkids at Christmas. Joni and Rooney went with the kids' dad to Utah and Jeffer brought the boys up here for a night and a day. We had a wonderful time! Elliot (4 years old) taught me how to play Portal 2. Logan (9) and Bob were watching us play. Portal is a puzzle video game. You have robot avatars and you work together to find your way around and through different rooms to get to the transporter to zoom to another level. You shoot holes in the walls to go through, push buttons to drop stuff, and run around. Elliot and I mostly ran around. Logan and Bob were trying to help us. Go right, now go left. Jump on the button. Shoot a red hole in that wall. And we would just keep running around and diving into the acid pool. We were laughing. Logan and Bob were not. Logan said "Argh, it's torture to watch you guys play." Then we had mickey mouse waffles and everyone was happy.
I just want to encourage family members to think about getting tested. I'm not sure what it would change if you found out you are PiZZ. Living a healthy lifestyle and staying away from smoke of all kinds - woodstoves, barbeques, cigarettes, toxic fumes - is about all you can do to keep it at bay. Then I suppose at some point the infusions would start. I'm not clear on how much longer of a life the infusions offer. I've read a lot and basically they don't know either. For me, it seems like I am staying steady. I don't think I'll get better but I don't think I'm getting worse. Quality of life becomes an issue. A lung transplant is a possible option. I haven't thought much about it. One of my advocates had a double lung transplant at 50 years old. Here are two short interviews that John gave following his transplant.
The infusions have been pretty mundane, except it took Bob 12 sticks last time. My hands have needle tracks and bruises on them. Two of those sticks caused infiltration of the saline, one on each hand. That's a very strange look. Two liquid bumps that form immediately. It doesn't hurt except for the extra needle prick. I'm not complainin', just sayin'. I would rather be here at home with my husband than anywhere else in the world.
We got to spend some time with all the kids and grandkids at Christmas. Joni and Rooney went with the kids' dad to Utah and Jeffer brought the boys up here for a night and a day. We had a wonderful time! Elliot (4 years old) taught me how to play Portal 2. Logan (9) and Bob were watching us play. Portal is a puzzle video game. You have robot avatars and you work together to find your way around and through different rooms to get to the transporter to zoom to another level. You shoot holes in the walls to go through, push buttons to drop stuff, and run around. Elliot and I mostly ran around. Logan and Bob were trying to help us. Go right, now go left. Jump on the button. Shoot a red hole in that wall. And we would just keep running around and diving into the acid pool. We were laughing. Logan and Bob were not. Logan said "Argh, it's torture to watch you guys play." Then we had mickey mouse waffles and everyone was happy.
I just want to encourage family members to think about getting tested. I'm not sure what it would change if you found out you are PiZZ. Living a healthy lifestyle and staying away from smoke of all kinds - woodstoves, barbeques, cigarettes, toxic fumes - is about all you can do to keep it at bay. Then I suppose at some point the infusions would start. I'm not clear on how much longer of a life the infusions offer. I've read a lot and basically they don't know either. For me, it seems like I am staying steady. I don't think I'll get better but I don't think I'm getting worse. Quality of life becomes an issue. A lung transplant is a possible option. I haven't thought much about it. One of my advocates had a double lung transplant at 50 years old. Here are two short interviews that John gave following his transplant.
Another of my advocates is a young mother of 3. She gets the infusions each week. Her husband gives her the infusions. She's been getting the infusions for a couple of years now.
There are sites you can go on to order the tests to see if you are an alpha-1. They send you the test kit, you take it to the doctor. The doctor pokes a little hole in your finger and squeezes some blood (about 4 or 5 drops) onto a cardboardish plate. Then the doctor sends the test to a lab and you get the results in about 2 weeks. The tests are free. I can order them for you, and I would be happy to. All the sites say they keep your information private. If you order them yourself, let them know you have family members who are Alpha-1 antitrypsin deficient with genotype ZZ. You can use my name if you like. I am signed up with some of the alpha-1 groups on line. You can go to these sites and request a test kit.
There are sites you can go on to order the tests to see if you are an alpha-1. They send you the test kit, you take it to the doctor. The doctor pokes a little hole in your finger and squeezes some blood (about 4 or 5 drops) onto a cardboardish plate. Then the doctor sends the test to a lab and you get the results in about 2 weeks. The tests are free. I can order them for you, and I would be happy to. All the sites say they keep your information private. If you order them yourself, let them know you have family members who are Alpha-1 antitrypsin deficient with genotype ZZ. You can use my name if you like. I am signed up with some of the alpha-1 groups on line. You can go to these sites and request a test kit.
This is not to scare anyone. The thing with this disease is that kind of all of sudden you can't walk up the stairs anymore without getting short of breath. And it doesn't make any sense to you. Then you notice other things like lifting heavy objects or hiking in the mountains also leave you short of breath. It often starts affecting you in your mid-thirties to early-fifties. It hits everyone different. It doesn't affect just smokers. It affects everyone who has the bad genes. Just to be aware of it is helpful I think.
Anyways, I love each one of you so much. Happy 2013!
Monday, December 10, 2012
Three More
Three more alpha-1 antitrypsin infusions since my last blog. I got number 13 Saturday. I really did not want to get my infusion this weekend. The last 2 were no big deal. Just set up, needle in the vein, sit for an hour, done. But Saturday I just didn't want to do it. I didn't realize it was my 13th time until I counted them up for this blog. I do not like the number 13. Maybe my apprehension was my subconscious letting me know it was the 13th time.
In attempting to find my vein with the needle and get the IV dripping into my body, Bob had to give it about 4 tries this time. "I don't know how heroin addicts do it." That made me laugh. After my infusion Saturday morning Bob and I watched TV for a while, then I took a nap. When I woke up I had a lot of difficulty breathing. Then I got a major headache. I'm telling you, it's that 13 thing. :(
Today is Monday and I'm feeling much better except that I haven't been sleeping well.That's pretty much okay since I can rest as much as I need to throughout the day. I'm thinking the not-sleeping-so-great is probably because it's December, not my favorite time of the year. Too many things haunt me this month. Some days it's all I can do to stay just this side of sane. Some moments I cross the line, but I have crossed that line enough times to quickly recognize where I'm headed, and I drag myself back to sanity, though admittedly not always willingly. And there will be times this month that I will give into it and cry and sob and miss my Amy and attack myself for not being able to save her. But not today I think. Today I feel better just writing about it.
As a fellow COPD blogger put it "depression can and will slip in without notice, and without caring what it does to you." And I just want to add to that very insightful comment "or what it does to your loved ones." I try to hold the darkness at bay. I have learned many tricks over the years to keep it away, though at times I hear it knocking. Ugh, go away. GO AWAY! And sometimes when it gets in anyway it ends up rocking me while I cry and then sleep, and it slips out quietly in the night. Depression has not taken me over completely for a long time and I intend to make sure that it never happens again.
This is a long and wandering blog. Thanks for letting me share with you.
In attempting to find my vein with the needle and get the IV dripping into my body, Bob had to give it about 4 tries this time. "I don't know how heroin addicts do it." That made me laugh. After my infusion Saturday morning Bob and I watched TV for a while, then I took a nap. When I woke up I had a lot of difficulty breathing. Then I got a major headache. I'm telling you, it's that 13 thing. :(
Today is Monday and I'm feeling much better except that I haven't been sleeping well.That's pretty much okay since I can rest as much as I need to throughout the day. I'm thinking the not-sleeping-so-great is probably because it's December, not my favorite time of the year. Too many things haunt me this month. Some days it's all I can do to stay just this side of sane. Some moments I cross the line, but I have crossed that line enough times to quickly recognize where I'm headed, and I drag myself back to sanity, though admittedly not always willingly. And there will be times this month that I will give into it and cry and sob and miss my Amy and attack myself for not being able to save her. But not today I think. Today I feel better just writing about it.
As a fellow COPD blogger put it "depression can and will slip in without notice, and without caring what it does to you." And I just want to add to that very insightful comment "or what it does to your loved ones." I try to hold the darkness at bay. I have learned many tricks over the years to keep it away, though at times I hear it knocking. Ugh, go away. GO AWAY! And sometimes when it gets in anyway it ends up rocking me while I cry and then sleep, and it slips out quietly in the night. Depression has not taken me over completely for a long time and I intend to make sure that it never happens again.
This is a long and wandering blog. Thanks for letting me share with you.
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