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.
Monday, April 22, 2013
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.
Monday, December 3, 2012
Thanksgiving Infusion of Love and Antitrypsin
So my blog is up-to-date to the Saturday before Thanksgiving, November 17th, 2012. Infusion of antitrypsin on that day went fine. As long as we find a vein and the medicine drips into my body I think we did a great job. So far no scary reactions, although we do have 2 syringes full of epinephrine (like the one in Pulp Fiction) just in case. Bob always asks if he gets to (I mean has to) stab me 3 times if something goes wrong. Hahahaha, no. And where is the Sharpie for drawing the circle to stab inside of?
On Monday, November 19th, Brad, Jeffer, Joni and grandkids came to rock our world for 2 days. It was wonderful! Mickey waffles plus yummy omelets for breakfast. Bob's famous ribs for lunch. Lots of fun and lots of love. Four-year-old Elliot and I were outside playing. He was showing me how he walks really fast. "Everyone needs to walk really fast," he explained. I said, "I can't walk really fast anymore." He came back to where I was and grabbed my hand and said "Everyone but you Gotu. You can walk however fast you want."
Thursday Frank came up and brought Thanksgiving dinner for the 3 of us. The kids were at their dad's that day. It was yummy and very nice. After Frank left I felt completely exhausted. I don't cry too often, but I laid on the bed and wept. We still had one more family party - Friday morning brunch. I just kept on crying. Friday morning came and I decided I wanted to go to the brunch. I was still pretty tired but figured I would just sit home and be sad if we didn't go, so we went to Merced and met the West Coast Hutchings for a delicious brunch at Bella Luna. It was so great to see and hug everyone. Another roomful of love and fun and delicious food.
Home again by 2 p.m. Worn out but very happy. I slept for about 12 hours Friday night. Nice.
On Monday, November 19th, Brad, Jeffer, Joni and grandkids came to rock our world for 2 days. It was wonderful! Mickey waffles plus yummy omelets for breakfast. Bob's famous ribs for lunch. Lots of fun and lots of love. Four-year-old Elliot and I were outside playing. He was showing me how he walks really fast. "Everyone needs to walk really fast," he explained. I said, "I can't walk really fast anymore." He came back to where I was and grabbed my hand and said "Everyone but you Gotu. You can walk however fast you want."
Thursday Frank came up and brought Thanksgiving dinner for the 3 of us. The kids were at their dad's that day. It was yummy and very nice. After Frank left I felt completely exhausted. I don't cry too often, but I laid on the bed and wept. We still had one more family party - Friday morning brunch. I just kept on crying. Friday morning came and I decided I wanted to go to the brunch. I was still pretty tired but figured I would just sit home and be sad if we didn't go, so we went to Merced and met the West Coast Hutchings for a delicious brunch at Bella Luna. It was so great to see and hug everyone. Another roomful of love and fun and delicious food.
Home again by 2 p.m. Worn out but very happy. I slept for about 12 hours Friday night. Nice.
Sunday, November 11, 2012
Alpha-1 Antitrypsin Augmentation 8 & 9
I guess it's only week 9 of the infusions. Then it's probably okay that I am still getting used to this way of life. Pretty much every night I dream that I am running somewhere. Last night it was to Luther Burbank Elementary School. :) Then I wake up.
I want to write today to just put my feelings and insecurities outside myself.
Sometimes I am very scared. What is this disease doing to me? I wish I could see inside my lungs every day so I would know. Is it continuing to eat up my lungs? Are the IV infusions slowing down (maybe even stopping) the progress of the elastase? I go in January for more tests, so I will have to wait until then to find out the scientific answer. Until then I will continue to do what I think I can. My inability to breathe will let me know when to stop.
I have joined an online group on Daily Strength. It is a bunch of people with COPD and emphysema who talk (type) about what they're going through. We support each other and answer each other's questions and listen to each other's frustrations. It is interesting to me that people I have never met face-to-face, and probably never will meet, have become such a part of my life. The fact that I do not know the parts of their life that aren't shared online, and that they don't know mine, is part of what makes this feel like a safe place to me. We are respectful of each other. We don't talk politics or religion. It definitely helps me.
Sometimes it helps me because my questions about the disease are answered. Not the answers you can look up on COPD.com, but the answers about how it feels. The anger, the self-blame (mostly all previous smokers), the love for life, the pain of the disease. We have lost 3 members to this deteriorating disease since I joined (about 4 months ago). It is sad.
Back to why I even introduced my group. One of the members wanted to know what would happen if they just kept on going, doing what they wanted/needed to do, as in running, or vacuuming, or cleaning the garage, or hiking in the mountains, or swimming in the ocean. Would one just keel over and die right there? The real answer is, you can't breathe. You have to stop. But I liked the question. Because that is what I dream about. Running and running and never stopping.
I want to write today to just put my feelings and insecurities outside myself.
Sometimes I am very scared. What is this disease doing to me? I wish I could see inside my lungs every day so I would know. Is it continuing to eat up my lungs? Are the IV infusions slowing down (maybe even stopping) the progress of the elastase? I go in January for more tests, so I will have to wait until then to find out the scientific answer. Until then I will continue to do what I think I can. My inability to breathe will let me know when to stop.
I have joined an online group on Daily Strength. It is a bunch of people with COPD and emphysema who talk (type) about what they're going through. We support each other and answer each other's questions and listen to each other's frustrations. It is interesting to me that people I have never met face-to-face, and probably never will meet, have become such a part of my life. The fact that I do not know the parts of their life that aren't shared online, and that they don't know mine, is part of what makes this feel like a safe place to me. We are respectful of each other. We don't talk politics or religion. It definitely helps me.
Sometimes it helps me because my questions about the disease are answered. Not the answers you can look up on COPD.com, but the answers about how it feels. The anger, the self-blame (mostly all previous smokers), the love for life, the pain of the disease. We have lost 3 members to this deteriorating disease since I joined (about 4 months ago). It is sad.
Back to why I even introduced my group. One of the members wanted to know what would happen if they just kept on going, doing what they wanted/needed to do, as in running, or vacuuming, or cleaning the garage, or hiking in the mountains, or swimming in the ocean. Would one just keel over and die right there? The real answer is, you can't breathe. You have to stop. But I liked the question. Because that is what I dream about. Running and running and never stopping.
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