San Francisco & the Cardiovascular Geneticist
Last week we took a trip to San Francisco to see the cardiovascular geneticist at UCSF and have a mini vacation. Brandon, my mom, and I headed to the Bay Area on Tuesday, and since we had to bring the dogs, we stayed at a Motel 6 in Oakland. (Motel 6's always accept dogs, and there's no extra fee or limit on number or size, just FYI.) We met up with Lyndsay in Berkeley for dinner on Tuesday night and got to walk around People's Park. On Wednesday, after spending an hour and a half making the 12 mile drive from our hotel to the city, we played around in San Francisco a little. We walked around Golden Gate Park some, looked in some hippie shops in Haight-Ashbury, and ate sundaes at Ghirardelli Square. Then we grabbed the dogs, walked them around a little park on the water by our hotel, and got a quick dinner before heading back to the hotel and crashing for the night.
Thursday morning was my appointment at UCSF with Dr. Nussbaum and the genetic counselor, Julianne. After taking a thorough family and medical history, they were able to give us a little more information about the genetic mutation. Apparently the mutation is really rare, so the doctor had never actually seen anybody with it, but he knew about it and was able to give us some more information about it.
First off, it's not necessarily a "connective tissue disorder" like we originally thought. It's more a disorder of the smooth muscle that is found in your arteries, digestive tract, and uterus. What happens is the junctions of the smooth muscle cells aren't tight, so to compensate, the smooth muscle cells replicate more than they should. This constant multiplication of cells eventually causes the blood supply to the cells themselves to be cut off, which causes big clumps of the muscle cells to die. The combination of loose cellular junctions and patches of dead cells makes the muscular layer very weak and prone to damage.
Still with me? I hope so. I'm trying not to nerd out on science-y stuff too much.
Now, your arteries have 3 layers that make up the wall: the intima, the media, and the adventitia. The intima is the innermost layer that actually touches the blood itself. It's a super thin layer, kind of like a coating of Teflon. The media is the muscular layer where the smooth muscle cells lives, and the adventitia is the outermost layer that is essentially gristle. Maybe this diagram will help... I stole it off Google, so don't tell on me!
What happens during a dissection is something (mainly a rapid rise in blood pressure), causes a small tear in the intima of the arterial wall, and because the muscular layer is so weak, the pressure of the blood coming through the hole in the wall essentially rips right through it. This is a dissection. Then, because the inner two layers of the vessel wall are damaged, the adventitia can't handle the pressure of the blood anymore, so it eventually tears, causing an aneurysm. I got lucky enough to have both, and unfortunately so did Karli. The difference is that Karli's aneurysm was in her chest whereas mine was just below my kidneys. (Also that Karli's surgical repair failed while mine was successful, but I don't even want to go into that.)
Ok, I'll take a break from the medical jargon for a while to give your brains a rest.
Because the damage to the inner lining of the artery is caused by big upstrokes in blood pressure, both my mom and I were put on pretty tight exercise restrictions for the rest of our lives to hopefully prevent dissection in my mom and any further dissection or trauma in me. Dr. Nussbaum gave me a list of exercises ranked 0-5, with 0 being heavy exertion and 5 being minimal, and he said he wouldn't recommend me doing anything ranked less than a 5. So what kinds of exercises are 5s? Walking, golfing, and bowling. My first thought was, "Soooo... basically, life? I'm allowed to do life?" If you know me, I hate golf, I dislike bowling, and I do not consider walking to be exercise, so this was pretty bad news for me. Here's a summary of the conversation with Dr. Nussbaum that ensued:
Me: What about running?
Dr: Nope.
Me: How about snowboarding?
Dr: Definitely not.
Me: What about backpacking?
Dr: How heavy is your pack?
Brandon: About 40-50 lbs.
Dr: Nope. I don't want you lifting anything over 30 lbs.
Mom: What about riding bikes?
Dr: Nope. Nothing that has a risk of you falling or getting hit in the chest.
Me: Well, there goes everything I enjoy doing! What about working with the animals at school?
Dr: Just don't get kicked by a horse!
Me: Well hopefully I would try to avoid that anyways!
Obviously that's a brief summary of the conversation we had, but I think it pretty well sums up what my exercise regime is going to look like for the future. No more snowboarding, no more wakeboarding, no more running, no more big hikes, and no more weight lifting. I do, however, think he was being a little too conservative, and I have enough experience with working out that I know my body, so I think I could safely incorporate in some gentle hiking/backpacking, and I could probably still hit the volleyball around some as long as I don't over-exert myself. I guess I'm going to have to find some new interests and hobbies that don't require too much physical activity, which might be kind of hard for me. I'm a little nervous about not being allowed to do any aerobic exercises because I've always struggled with my weight, and now I'm not really sure how to burn those extra calories without walking 5 hours a day, especially since my diet right now is forcing me to eat unhealthy foods, which I talked about in a previous post. Oh well, it's a good thing Brandon loves me no matter how big my butt is.
Also because the dissections are caused by big jumps in blood pressure, and because there's smooth muscle in the uterus, I definitely cannot get pregnant. Ever. It's way too high of a risk. I already knew that there was a chance I'd have to find a surrogate or adopt, but now it's absolutely for sure that I can't carry a baby. Even thought I'm not surprised, it's still a pretty big hunk of news to receive. It changes Brandon's and my life in a big way yet again, and I know he is really upset about it. Even if we can find a surrogate and do IVF with her, it will cost us a grip... probably around $100,000 at least... and that is not an amount of money to sneeze at, especially if we want more than one kid. As Brandon mentioned, that's enough to put a kid through college or get a good start on retirement. There's also the option of adoption, which I would be ok with even though it's not my first choice, but I know Brandon is concerned about not having a very good bond with the baby and not feeling like he could accept it as his own. I understand where he's coming from, but I know how big of a heart he has, and I know he could love an adopted child like he could his own flesh and blood. It's just not fair that there's people out there that keep popping out kids they don't even want just to get money from welfare, but there's people like us who want a family more than anything, and we will have to work incredibly hard and spend a ton of money just to maybe have a baby. Plus, I will never get the experience of being pregnant and having a baby that most other women get. I know that in the scheme of things it doesn't really matter and it's a small part of being a parent, but it's just another part of life that has been denied to me. I'm starting to get pretty sick of things being taken away from my life; I'm ready to have some goodness come in!
Ok, I got side tracked. Back to the medical stuff. We already know for sure that my mom carries the gene mutation because both Karli and I have it, but what we don't know is if she got it from one of her parents or if it developed in her in utero. My grandma is getting tested, but because my grandpa isn't alive anymore, we have no way of knowing if he had the mutation or not. If my mom did get it from one of her parents, then she definitely has the disease. If the mutation started in her, she could be what is called a mosaic. That means that some of her cells carry the mutation while others don't. We know for sure her eye cells have the mutation because she has the iris cysts like I do, and we know for sure her eggs have it because it was passed on to Karli and I, but if she is a mosaic, there's a chance the cells in her aorta do not carry the mutation. The problem is, if she is a mosaic, there's no way to know which cells carry the mutation and which don't, so it doesn't really help us out at all. It's more of just a piece of information to have rather than a factor in how she will need to care for herself in the future.
That brings me to the last part of the genetic information -- what do we do going forward? Well, my mom has to get an MRA to look at her aorta, which is like an MRI except it has magnetic contrast to allow imaging of her blood vessels. I also need to be checked every 6 months for the next few years, but I can just have a CT scan with contrast since I've had enough imaging that they have a good baseline for what my aorta looks like. After a few years, I can go down to being checked once a year. If any changes are seen in the size of my mom's or my aortas, then we'll need to consider surgical intervention to place a stent. It sounds pretty unlikely that will happen, but it's something we need to keep in the back of our minds. Lastly, Dr. Nussbaum recommended we get medical alert bracelets in case someone finds us unconscious on the side of the road so the doctors know what to look for. I ordered one a couple days ago with the inscription "Predisposed to aortic/arterial dissection" on it. I'm amazed at how much they cost! For the bracelet with the engraving it ended up being close to $60, and that was one of the cheapest ones! I have to wear it forever, so it better last me a long time.
Yet Another ER Visit
After our visit with the doctors at UCSF, we headed out of the city back towards Reno. My stomach was feeling a little off all day, but I wasn't really sure what was going on. We stopped in Vacaville for some lunch at Olive Garden, and immediately after lunch my stomach got distended, started cramping up super bad, and I started throwing up. I had brought one of the fentanyl lollipops my pain management doctor prescribed to me with me in case this happened, so I sucked on that for a while. It helped with the pain for about a half hour, but then the cramping started up again with a vengeance. By the time we got into Reno about 2 hours later, I was in so much pain that I wanted to be brought straight to the ER. The visit was pretty much the same as it always is... they hooked me up to some fluids, drew blood for some tests, gave me some anti-nausea meds and some pain meds, and took X-rays of my abdomen. It started to get pretty late, so when the doctor said he wanted to admit me, I agreed so that my mom and Brandon could go home and get some sleep. The doctor promised me that I'd be discharged first thing in the morning, but I should've known better. After several more doses of pain meds I was able to get a little sleep and woke up feeling much better. I was ready to be discharged by 9am, but I didn't even see the doctor until 4:30pm and didn't get out of the hospital until almost 5. It was a total waste of a day, but at least I got my pain under control and was able to ride out the blockage. I just don't know what I'm going to do when I'm school and this happens every 2-3 weeks. I can't afford to go to the ER every couple weeks and miss a couple days of school every time my stomach backs up, and apparently the fentanyl pops don't work as good as they're supposed to. I just wish I knew what was causing my stomach to back up like that so I could prevent it.
Easter Fun
That brings us to Easter weekend. Saturday morning I had a hair appointment, and I chopped all my hair off again! I was really hesitant to do it because I miss having long hair, but I lost so much hair in the hospital that it needed to be done. Jeannie, my wonderful stylist, said if I didn't cut it off I would eventually end up with a mullet because the top would come in thick and the bottom would still be scraggly old stuff, so I took her advice and chopped it. Even though I look even younger now, my hair looks super cute, and I'm glad I did it. And I have to give a million thanks to Jeannie, not just for stopping me from having a mullet, but for not charging me a dime. I'm still amazed at how caring people are and how willing they are to help me out when I'm in need. So thank you, Jeannie. You are a saint.
Easter Sunday was a whirlwind. We started out with breakfast at our house, so Will, Bodie, Cat, Josh, and G-ma all came over to eat some delicious food. We had so much food, and I feel like I was literally just eating nonstop for about 3 hours straight. We did an Easter egg hunt for Bodie, which was so fun to watch. Instead of putting his eggs in the Easter basket, he insisted on putting them in the trunk of his little plastic car, and he would wheel his car around the porch to load it up with eggs. He also could've cared less about the candy in the eggs. All he wanted to do was throw them on the ground and watch them break apart as the jelly beans went flying. He's such a boy it's ridiculous.
After breakfast, it was time for Brandon to head back to Oregon with the dogs. That was his last time ever having to make the 9-10 hour drive between Corvallis and Reno to see me, and I'm sure he was so relieved. In case you didn't know, Brandon has been making the drive between our home in Corvallis and my mom's house here in Reno almost every weekend for about 9 months straight. I think he wins the most dedicated husband award, hands down. But seriously, it means so much to me that he spent all those hours in the car and all that money on gas and took all that time off work just to be with me and help me through this recovery. Roughly, that's about 18,000 miles driving and about $3,000 in gas. I can't imagine how stressful and exhausting it was, but I am so lucky to have him in my life, and I'm really looking forward to moving back to Oregon with him and starting our life as a married couple under the same roof.
That afternoon, Cat, my mom, and I went to Picasso & Wine for a girls' painting day. Picasso & Wine, if you're not familiar with it, is a cute little local business where you sign up for a class and they walk you through a painting, and you can get drinks from their bar too. Our painting was of water lilies, and I think they all turned out amazing! It was so much fun that I tried to find another class to go to before I move back to Oregon, but they're all sold out for the next month or so. Bummer.
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| Picasso & Wine lily paintings |
Pictures!
I think that's all the news I have for now, but I wanted to share a couple pictures with you all because I like them, and pictures make reading more fun. :)
This first picture is of a painting that was given to me by my friend, Hollis. I offered to buy it from her, but then she surprised me by gifting it to me along with a really wonderful, heartfelt letter. It's nice to know friends still care about you, even if you haven't seen each other in years and years.
Here's a couple pictures of my dogs, just because they're adorable. I caught Goose mid-yawn, and then there's Zeke wedging himself under my mom's legs and trying to sleep.
Lastly, I've been on a bundt cake making spree, so here's some of my creations. If you haven't heard of Nordic Ware baking supplies, they make some of the coolest bundt pans ever! After looking at them all on Amazon and drooling over them, my mom surprised me and got me this really neat spiral bundt pan that makes the cakes look amazing.
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| Honeybun Bundt Cake - my favorite of the 3! |
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| Lemon Raspberry Jam Bundt Cake - my 2nd favorite |
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| Chocolate Bundt Cake with Cream Cheese Filling - the prettiest, but didn't taste great |
That's all I have for now! Adios muchachos!
