Rare Disease Day 2015

A few years ago, I wrote this post about what a typical day looks like for us. What I wasn't able to 
articulate at that time, whether it was because I was so deep in the motions of everyday life or the true burden of this disease hadn't yet full sunk in, was how it makes me feel. So today, on Rare Disease Day, I want to share what a day really feels like for me.

I wake up in the morning and I don’t want to get out of bed. Like ever. I'm tired. Always. I'm happy to grab a kid and pull them in to snuggle, but I’m so tired of this routine that I just don’t even want to get out of bed and start another day.

I finally pull myself together and head downstairs. I pour a couple of Ensure Plus into a cup with a straw, hoping he will drink them, knowing that he needs them, worrying that they won’t be enough. I make breakfast for the other three, and lunch for my first grader, while everyone complains that i’m making something they don’t like or that I’m not paying attention to whatever they’re telling me. Its true, I’m not. I want to be paying attention, but I can’t. I’m not sure why. I’m thinking about the coughing that I hear. Its usually there when he wakes up, some days worse than others, most days subsiding after the morning treatment. I have to decide if its enough to stop everything else and start the treatment or if it can wait the 15min until two of the 6 are out the door. I’m yelling out spelling words and only half listening to hear if she spells them correctly because the coughing interrupts her answers.

While they’re eating breakfast, I pull together the medications and equipment that we need to start our day. Theres always moaning and groaning when I announce that its time for “breathies”, and I wish he could really feel me when I say “I so hear you bud, I don’t want to do this either”, but I’m committed. He begs for the “short” treatment, the one thats only 24 minutes instead of 30. He can tell the difference.

Once we agree on a show to watch, we settle in for 30 minutes of vigorous shaking and various medications. We always sit with him, usually me, so that he doesn’t have to do it alone. The weight of that is heavy, as sitting with him means time away from the other two still at home. They’re use to this. They shouldn’t have to be. It doesn’t make it any better.

Truthfully I don’t know if any of them really know what CF is. I don’t know if they should? I wonder if I’m keeping too much from them? I also wonder if I’ve given them too much. Are the behavioral issues because he’s 4? Does she act out because I unfairly dedicate more of my time to him? Are they because she doesn’t understand or she’s curious but doesn’t know how to ask? Do they have questions that they’re not asking me because I’ve shown them that I don’t have time to listen? I know that really, I don’t have time not to.

I’m scared when our secondary insurance decides to drop us and we now need a few extra hundred dollars a month to pay for the Ensure, that is the only reason he is gaining weight, on top of all of our medications. I keep meaning to schedule an appointment with the behavioral psychologist about his eating habits but I hate that I need someone to help me parent. It feels like a failure. When dinnertime becomes a nightmare, when he won’t eat any solid food, and when has to whisper to me that he doesn’t want to eat when other people are looking because he has realized and I have failed to realize that he’s aware that others are aware that there’s a difference between whats on their plate on whats on his, I concede and schedule an appointment. It feels awful.

When we go to the doctor and we only get more bad news - more to do, more to schedule, more to track - if feels like I’m going to drown, but I have no choice but to just keep swimming. And I have to keep a smile on my face because I am trying with all my might to convince him that he’s no different than anyone else, and that this disease is just something that runs in the background. He doesn’t need to know all that it takes, but he does. He’s smarter than most people I know, and he’s not even 5 yet.

None of the tasks that I get to do on a daily basis are a heavy lift for us - by most standards a well-to-do family, reasonably well educated and financially secure - but the combination of small tasks that I have to perform, the cognitive burden of this disease is sometimes more than I can bear. I wonder what the real impact is of all of these medications and treatments and appointments. I wonder what’s actually necessary, and if I’ll ever actually know whats really necessary. Is it okay that I skip an afternoon treatment now and then for a trip to the park? I think his mental and emotional well being are of equal importance to his physical health. I think the doctors agree, but they only ever seem to offer more to do. I do believe they have his best interest at heart, but not like a mother does. Or maybe they do have his and I’m being selfish in thinking they perhaps they should also have mine? Do they understand how guilty I feel when I have to say no to school or the day of a big party because the teacher has been kind enough to let me know that there are a number of kids there with colds? They can’t possibly feel the ache in my heart when school calls to tell me he won’t come out of the bathroom because he has trouble with his bowels and wiping by himself. When the family wants to take a vacation to a lake, something that we just can’t do because of his health, or have a fire in their fireplace, the little things that we just can’t partake in, and trying to minimize them so it seems like no big deal that we have to miss out, when really I desperately want all of my kids to partake in lifes simple pleasures. Is it right that I keep all of them from these things so that he doesn’t feel even more left out? Should they have to suffer from this disease too?

There is always a fear that you will lose your baby. It’s not all encompassing or debilitating, but its ever present and its completely out of our control. I could do everything right - by the books, medically speaking, everything right - and we could still lose this fight. It happens every day. We see it on Facebook, on blogs, among friends. I think about that.

I also think about how lucky we are and how good we have it. I cry for the families that lose their children to CF because they were born into a different socioeconomic class than I was. I feel an obligation to use what I have and what I know to help them too. And then I feel guilty for dedicating my time to someone other than my family. I wonder if all the work that I do is really hurting my family more that its helping us. I think that a balance is good, teaching my kids the importance of helping others and also finding time for yourself. I don’t think I’m doing a very good job of it, but I’m trying.

That’s what I think about in a day, every day. What I what you to know is that we are trying. The people like me, and the people nothing like me; we are trying. We are trying the best that we know how. We have to perform medical procedures, without any professional medical training - correcting a rectal prolapse, cleaning a stoma, changing a trache. We compound medication in our kitchens, monitor oxygen saturations at 2 in the morning, sterilize medical equipment the best way that we know how, all with knowledge that we’ve put together from the expertise of our healthcare team and also from outside of the institution, from our peers. Our medical care does not happen 4x per year when we go to see the doctor. It happens 24hrs a day, 365 days per year.

We aren’t mad at doctors. We are desperate for them to ask the questions that will allow us to tell them all of this. This isn’t easy to say, and we often don’t even know how to put into words what our priority is. We want the same thing that you want for us - good health. But to minimize the impact of this disease in our lives - for a day, an hour, just a moment - would mean the world.

I often go to bed at night feeling defeated. The kids are not happy. The house is not clean. The disease is not cured. I know whats on the other end of a good nights sleep. But I remain hopeful.

That time I went to the White House (part 2)

On Friday, January 30, 2015, I arrived at the White House (yes, the one the President lives in) at 9:30am. I found some of our CF Foundation Leadership already waiting at the gate along with Bill Elder, an adult with cystic fibrosis who benefits from Kalydeco, the life changing drug that essentially cures cystic fibrosis in the 4% of CF patients who have the specific genetic mutation that it treats. I was introduced (or in many cases introduced myself) to anyone who looked even mildly familiar. I met a Nobel Laureate from MIT, the founder of a startup that is finding new ways to use "big data", and the current director of the National Institute of Health and discoverer of the CF gene in 1989, Francis Collins. He was in line behind me at going through White House Security, and when I saw him, after I did a double take, I introduced myself and asked him if he would mind taking a picture. What an incredible honor and privilege to be at an event, at the White House, with the man who made one of the first and certainly most remarkable discoveries affecting the CF community.

This is the post about the details, and I'm going to give you the nitty gritty, because if I hadn't been there but I knew someone who had, I'd want to know.

You would think that they would have a lovely holding area for White House guests, perhaps something more than your run-of-the-mill tent equipped with a space heater and a few secret service agents. Alas, they do not. They do however have multiple tents, where they perform the exact same security measures multiple times.

If you make it through the tents, you enter a small building with signage that indicates that there are dogs inside. Behind a large screen that you cannot see through, you walk past one or many K-9's toward a metal detector and an X-ray machine for your personal belongings. This is no nonsense. They're not smiling or asking about your day. If push comes to shove, these folks will give you the shakedown.

And then you're in.

Francis Collins, Director of the National Institute of Health and Scientist responsible for the discovery of the CF Gene

Me with Preston Campbell, SVP of Medical Affairs at the CFF and Bill Elder, an adult with CF

When I walked into the White House (THE WHITE HOUSE!!!!!!) I saw the President's dogs, Bo and I have no idea what the other ones name is. I'm not a dog person, but still, I saw the dogs.

There were Marines around every corner donning their dress blues and referring to everyone as sir or ma'am. There was a coat check further down the hallway where we saw the dogs. Everything was so historic and pristine! We made our way upstairs to the reception area where they had coffee (White House coffee!) and water. I passed on the drinks for fear of spilling on my outfit. The was a marine playing a beautiful historical looking piano as people milled about, introducing themselves to one another and sharing their excitement for being invited to such a cool event.

After about an hour, another set of doors was opened leading to the room where the announcement was to be made. We filed in and found our seats. The only seats that were assigned were the guests of honor, those patients and families who had attended the State of the Union the week before as guest of the First Lady. They go the front row. Let me just repeat that for a second - PATIENTS and FAMILIES sat in the FRONT ROW. Not the second row. Not mixed in with the crowd. The very front row. That in itself spoke volumes. There were probably 6 rows in the front section followed by an open aisle and then the remainder of the seating. I was in the first row of that second section. Here was my view, panoramic style:

There was an announcement made to silence all devices, and a hush fell over the crowd. As we anxiously looked around the room, I caught the eye of one of the marines who whispered to me that as long as the piano was playing the President would not be coming out. I felt cool for being in the know.

A few minutes later, the piano stopped, the patient/family guests of honor were ushered in, and an announcer said, "Ladies and Gentlemen, The President of the United States of America."

The President was introduced by Elana Simon, a 19 year old student who’s high school science fair project was about finding a treatment for her own specific type of liver cancer. In other words, the President of the United States was introduced by an ePatient. 

The teleprompter that read Remarks of President Obama on Precision Medicine, The White House, January 30, 2015.

To borrow a nice summary from the S4PM website, "The initiative begins with a budget request for $215 Million in new funds. The funds will be used, mainly at the NIH, to:

• Develop a national cohort of a million volunteers who will donate their health-related data for open research.
• Provide increased funding for research to identify genetic drivers of cancer.
• Help the FDA speed up the regulatory process
• Fund the development of data interoperability standards

Because Cystic Fibrosis is such an incredible example of the value of personalized medicine, treatments that target specific genetic mutations, one of the VIPs was an adult with CF, Bill Elder. Bill was a guest of the First Lady at the State of the Union, and was invited to attend this event as well. President Obama highlighted the success of Kalydeco by sharing Bill's story. I was able to get a video of it so check it out:

I may not be Mr. Obama's biggest fan. However, this announcement and the proposed commitment to advancing this initiative is the first step toward progress in curing a disease like CF. Congress must still approve this budget. We will need to learn more specifics around the proposed initiatives. We will have to get a better understanding of the resources available to push this forward. But it's a start, and it's further than we have ever before been with support for addressing the extremely personalized needs of patients with specific genetic mutations in CF and other rare and orphan diseases. Here is a fact sheet that the White House released post announcement: http://t.co/bOoYqBzhrr.

Best parts: 

• “Patients and advocates won’t be on the sideline. They’ll help us design this ” -Obama
• "Precision Medicine is delivering the right treatments to the right person at the right time every time” - Obama
• "The patients here are living proof that the new dawn of precision medicine is upon us." - Obama

The talk was about 10min long. At its conclusion, there were a few handshakes and pictures with the folks in the front row before the President was gone. We came, we saw, we left. Let me tell you those marines mean business when it comes to ushering you in and out of the White House! 

Following the announcement, I was invited to a luncheon with a handful of other patients and patient advocates pretty close to the White House, and it was equally as amazing. I met some seriously incredible people, including a guy who found his own brain tumor by accident and had a 3D printout of it in his pocket, a woman who created a remarkable registry for a rare disease that her children have, the always amazing Emily of Emily's Entourage (who just recently did THIS) and many others. We talked with some of the folks who work at the White House Office of Science & Technology Policy about what we thought some of the major hurdles might be. Chief among them were privacy issues and the need for updated IRB protocol. The whole thing was like one big highlight in my life, but one of my favorite parts was definitely getting to spend some more time with Francis Collins. It was such an intimate group of people at this lunch (maybe 25-30 people?). Francis Collins had us go around the room and introduce ourselves and say 3 words related to how we were feeling about the announcement that we had just been a part of. There were lots of "hopefuls" and "readys", a few "desperates" and even a handful of concerns related to the funding and the resources available to do this. When it came back to Francis Collins, this is what he had to say: "I've been dreaming about a day like this. We are all in this together." He went on to ask us to work with them, to share with them all the work that we are doing so that they can learn from us, saving time and money by not having to recreate the wheel. He asked us to speak up and let them know when they're doing something wrong, and then work with them to make it right. "We are all in this together." Indeed we are. 

I'm hopeful. I know that there is a long way to go, but we finally have a stake in the ground, a starting point. This experience definitely ranks near the top of my list of coolest things I've ever done, and I do hope that this really is just the beginning!