Mutations and Mom

--> Today I have an appointment at the cystic fibrosis clinic in the hospital where I had my lung transplant. I haven’t been to a CF clinic in at least ten years. And previous to transplant I only had one CF doctor my entire life, from my diagnosis to his death. Dr. Thomas Doland at Yale. He died shortly after my transplant. And I never saw a need to find anyone else. I belonged to my transplant team at that point. The interesting thing about having a lung transplant is that, for me at least, you sort of leave the CF camp and move to the transplant camp. Of course, I still have CF, and of course it still affects so many things, but my lungs no longer have CF, so it kind of eliminates the need to be followed continuously by a CF doctor I guess. Instead of seeing a CF doctor, I see my transplant doctor and a million other specialists—sinus ENT, ear ENT, cardiologist, several endocrinologist, kidney specialist, gastroenterologist, infectious disease and many more I can’t even think about. The roster is long—each doctor taking care of their specific organ.

But now my ear has really brought CF to the forefront again. There are several reasons I can’t get rid of this infection, but there is only one reason I got the infection to begin with, and that is cystic fibrosis. The pesky dumb aggressive little bacteria that is in my ear is pretty much a bacteria you can only grow if you have CF, a healthy person could lather in it; it wouldn’t do any harm. It’s the same bacteria that ate away at my CF lungs time and time again. And it’s the same bacteria that like to wreak havoc in my sinuses, and then found its way into my ear. But the point being CF has again found a way to rule my world, even though transplant is supposed to somewhat alleviate that from being the case, and trust me it did, I’ve been on IV medications, a rotation of three different antibiotics and one antifungal since December 19^th. I’m over it. And like all my ENTs like to say: we can’t transplant your _____ fill in the blank with ENT things. We have all done everything we can but we need a forever solution.

Since my transplant there have been a lot of advancement in medications that target the actual problem with CF—we can’t transport fluids and sodium properly in and out of our cells. This is something your body needs to do to be a normal functioning healthy person. There are two medications available now that try and correct the actual defect in the protein that causes the problem. My lungs don’t have CF so in essence I wouldn’t really benefit from a cure for CF, I now need a cure for transplant rejection—this is now my terminal disease. I hope this makes sense. So back to the ear problem that has led me here! These two medications Kalydeco and Orkambi COULD help my ear! So a few weeks ago my genius sinus surgeon told me he has seen big improvements in the sinuses of CF patients on these medications. I told him I didn’t even know what my mutations were.

So here I am a mixed jumble of emotions. I know I have a genetic disease. But it’s a different thing to actually find out specifically what mutations I have in my gene. I am entering back into a world that I haven’t been to in so long, even though I suppose it’s been there in the background the entire time. There are a lot of mutations and a big chance I don't have the right one, of course I’m scared of disappointment here. But this is the way medicine is headed and it’s thrilling to be honest, even if it doesn’t exactly mean a cure for my own lungs and me. The drug pipeline is exciting (https://www.cff.org/trials/pipeline)

There is more to it though and I’ve been trying to understand why I am SO emotional about this experience. And it’s because I got these CF mutations from my parents—neither of them alive anymore, neither of them with me. My mom should be with me for this. She should be sitting with me in the exam room like she always was before she died. I’ve never even seen a CF doctor without her and this is bringing it all back, everything we went through together my entire life. And it’s a visceral punch to my stomach. At the end of the day this loss is always circling me. The progression of life, these sorts of milestones, will always make the big losses slowly burn again, the ache roaring back. But I have to keep going and I have to keep facing these things and luckily I don't do it alone.  

Dear Mom

Dear Mom,

Mother’s Day is the hardest day of the year for me. It’s the biggest reminder of how desperately I wish you were here. I miss you every day but I guess today is different because I get to glimpse purposefully inside so many other daughters being with their moms and I don’t get to do that anymore.

I remember so vividly the gift I gave you on your last Mother’s Day—it was a picture of me as a kid, maybe 3, in a bathing suit and laughing by our pool. I was so happy in the photo, that was why I picked it—just a kid being happy, not a kid being sick. And on the photo in black sharpie I wrote I love you. You kept it on your nightstand.

I wish I had gotten to know you as an adult. I wish we had been able to grow together as I became me. I’m a different person than when you died. Your death made me a different person—kind, generous, more selfless and less selfish. It also made me more timid and more fearful. It changed completely who I was. I wish I were this person when you were alive. I was in my early 20’s, self-absorbed, and maybe even bitter because of my illness. I’m sure I didn’t listen to anything you said or treat you the best. I’m sure I said things I didn’t mean. I'm sorry. But no matter what I couldn’t function normally without you—you were my first call of the day and my last call of the night and several calls in between. And I still can’t functional normally without you. So much so that I mostly stopped talking on the phone after you died. I can’t stand that the other person on the end of the line is never going to be you again. I still scroll through the last text messages you sent me—the last communication we ever had over technology.  

I can’t believe the things I’m experiencing without you. It hurts my heart that I went to South Africa without you. Or that I spent the day on the Shark Tank set without you, because Robert would have loved you. As everyone did. He would have made a deal with you for something! You were dynamic, intoxicating, strong, powerful, smart and beautiful. You never took no for an answer and you were easy to admire. You lit up any room you were in. You were everything I hoped I would turn out to be.

Saying that I miss you just doesn’t seem right because it is so much more than that. I feel so incomplete without you. My heartbreaks for the things I never saw you accomplish, I’m always thinking how food has taken off so much now and you would be running circles around todays best restaurateurs.

Since I was little our thing always was saying to one another "I love you to the moon and back". And mom today I love you to heaven and back. 

 

loss and adapting

Prince William inspired me to write on this blog again. Please read this quote for context:

The prince, 34, who was 15 when his mother Princess Diana died in Paris, said: “The shock is the biggest thing, and I still feel it 20 years later about my mother.
“People think shock can’t last that long, but it does. It’s such an unbelievably big moment in your life and it never leaves you, you just learn to deal with it.”

I’ve written a few posts in the past few weeks but they are bone stabbing kind of deep. I don’t think they are ready for the Internet yet. But I think this is medium deep, haha! So it seems more appropriate. I watched this interview today with Prince William talking about the death of his mother—I bet we all remember this day. It made me realize more people experience the same losses as our own than we probably care to understand. It’s easy to think we are the only one that may have gone through a particular thing. But loss is universal, and the loss of a parent at a young age does actually happen to lots of other people. And it also does happen to other chronically ill people. I’m not the only person with CF to lose their mom to cancer. The thing is it’s all tragic of course, but it’s a punch in the gut on top of 100 other punches. What else can you do besides take it?

But the loss of a parent, especially a mother, is unlike anything else. It’s not like losing anyone else in your life. I came into this world attached to only one person, by an umbilical cord, by months together, by experiences in the past and promises of the future, and I felt it all violently ripped away from me when she wasn’t here anymore. (I am not diminishing people raised by someone other than their birth mom.)   

I think people assume I lost my mom so many years ago it must be behind me. And it's not. I don't talk about it with too many people but I'm still gutted by it every day. There are so many things that happen every day that compound her loss, from tiny to monumental, from crisis to joy. I've just learned to live my life with this gaping hole. And it's okay. You learn to adapt. That's what life is mostly about—adapting to anything that comes at you. The only real way to survive in almost any capacity is to adapt. And adapting doesn’t mean that things can go back to the way they used to be. It just means learning to move forward in a new way, in a new vehicle, or on a new path. And if you are lucky enough you have people that will follow along side of you.

Mom

A family member sent me these pictures today: