7 Ways You're Making Life With Rare Disease Harder Than It Has To Be

The other day I read a post on Thought Catalog called 10 Ways You're Making Your Life Harder Than It Has To Be. As I was reading, I got to thinking about how this list is so easily adaptable and expandable to include specifically living with a rare disease. To that end, and because I can't resist making a list, here's my take on making life harder than it has to be. Disclaimer: I highly value the individual experience and don't like to generalize, so take each of these with a grain of salt. Some of this may ring true for you or none of it may ring true for you. Only you know how you should live!

1. You lament the everyday.

I'm not saying you're not allowed to complain (though we all, myself included, could probably stand to do a lot less of it). Are you battling a new cancer diagnosis? Dealing with the death of a family member or beloved pet? Facing a layoff at work? Please, lament away.

What I mean when I say the "everyday" is that for many of us with a rare disease, there are things we may encounter every day that cannot (at this time) be changed. In my particular community, this means taking medication every six hours or every twelve hours. Those with cystinosis also may use eye drops every waking hour.

This may sound blunt, but I mean it kindly. If you are lamenting a medication that you have taken every six hours for decades, you're not doing yourself any favors. This medication is part of your life. A frequent part of your life. Do what you can with regards to efforts to eliminate its need (through fundraising for a cure or participating in research), but please don't let it steal your joy. Wasting angry words or thoughts on something that is a daily part of your life allows in a certain amount of negativity toward life itself. You don't need that.

You don't have to jump for joy every time you must engage in one of the daily activities associated with having a rare disease. That's probably as disingenuous as it would be if I jumped for joy every time it was time for me to brush my teeth (though I admit, I do like brushing my teeth). But allow your must-do routine to be either neutral or positive, because it's not going away anytime soon.

This one can have a profound effect not only on your overall emotional well-being, but also on the well-being of others. If you are a parent, try not to lament your child's everyday. In the rare disease community, that can lead to resentment of medication or even noncompliance later on.

2. Your rare disease is the star of your show.

Where you put your thoughts, there you put your life. It is healthy to embrace the unique traits that make you who you are. But too often it seems that we relate everything in our lives to the rare disease that we have, and when we do this, we are allowing IT to have US. Sometimes when we are young, we get people's attention by having a rare disease. I clearly remember being in a hospital room when I was a child and having at least a dozen doctors come in to look at my eyes, because seeing cystine crystals in a patient's eyes is something they had only read about in medical school textbooks. I was the star of the day because cystinosis was the star. Experiencing these sorts of things in childhood can naturally lead to giving your condition a starring role as you get older. Resist the temptation and let your other traits shine through. Remember that there are many other things that make you unique, and strive to share these things with the world.

3. You see serious illness in every ache and pain.

This flows naturally from number 2. I know I need to put this one delicately, and I remind you to see my disclaimer, above. Sometimes a mole hill really is a mountain and should be treated as such. But on the other hand, sometimes we are prone to make mountains out of mole hills.

In my own experience, sometimes a cold is just a cold and food poisoning is just food poisoning and these things have nothing to do with having a rare disease. Remember, each person is unique and you know when you need to be concerned. Just remind yourself not to worry too much when you're feeling a little under the weather.

4. You constantly compare yourself to others within your disease community.

If you have a rare condition, you may find yourself knowing most of the people in your country with that condition. Kind of bizarre, right? I mean, imagine having cancer and saying, "I know 90% of the people in America who have cancer." Totally ridiculous. And yet, this is something I can say with a high degree of certainty when it comes to knowing people with cystinosis.

Since your community is small, the temptation is to believe that experiences are universal and by extension, quickly make comparisons when they are not. The healthy thing to do is to accept that there is a ton of health diversity even within a rare disease community, and you are responsible for creating a great life for yourself within your own circumstances. Embrace what you can do, and don't worry about what you can't, even if someone else can! Jealousy is a wasted emotion.

5. You don't share (or you overshare).

No one wants to be around someone who only talks about his or her health condition. At the same time, we all want to be around people who are real and flawed.

Until I was 18, I was adamant that no one at my school know about cystinosis. I stand by the fact that this worked for me, because I had a support network outside of school that did know (and also knew that I didn't want it to be a huge part of my life). At the same time, I became pretty withdrawn during the two years I spent on dialysis because I spent so many hours at the hospital rather than socializing. I know that some of my friends would have come with me to dialysis, but they didn't know. My best male friend during that time (who now happens to be my husband) didn't attend my school and did come to dialysis with me a few times. He was probably intensely curious about some things but he didn't ask, because I liked to focus on other things. He was a huge support.

Don't go through your rare, beautiful life alone. Share with those you trust. Keep a good balance between silence and oversharing when it comes to your condition.

6. You fast-forward to the end of your life.

Like it says in the blog post that inspired this one, too often we jump to the worst possible conclusion. Be realistic but not doomsday-ish. Your life can be long and happy; it can be short and happy. But what a tragedy if it is long and unhappy. It's no way to live--constantly thinking about life expectancy or failing organs or whatever else that shouldn't be dominating your thoughts in the here and now.

I like the story I have to share about a deferred transplant. When I was 16, my native kidneys failed and I needed a transplant. I went on dialysis instead. There were many things that went into this decision, for it was a conscious decision both on my parents' part and my part. I wanted to finish high school without a health interruption because I was so academically driven (priorities, right? ha). My parents felt that if transplant could be put off for a while, there may be medical advances that would increase the success of a new organ when I got it.

While on dialysis, I didn't lament my everyday (see number 1). I had extra homework time in a recliner that just happened to be at a hospital. I didn't think about the dreary future or how people die on dialysis. I focused on being in my best health and enjoying what I enjoyed. I appreciated that machine that gave me life, and though the seemingly endless surgeries were a pain, I always lived assuming that my current dialysis catheter would work. And when it didn't? Well, I took that news in stride.

Turns out my parents were right. Between when I started dialysis and when I had my transplant, new advancements were made in anti-rejection treatment. A medication that had been the norm in 1997 was on its way out in 1999, with a newly FDA approved treatment introduced. I was on the old medication for a month when doctors realized it was toxic to me. If this had happened in 1997, I'm not sure what would have been done. But in 1999, I was promptly switched to the better medication which has proved a resounding success.

So live your life and don't let your mind travel to Doomsday. You just never know what's over the horizon rushing toward you as quickly as the earth spins and revolves (and evolves) into Tomorrow.

7. You cling to your safety net and accept what you believe to be your fate.

Take risks and do things believed to be impossible for you. You'll be surprised where you land when you jump.

 

Kintsukuroi (Or, A Good Reason To Talk About Rare Disease Day)

Why talk about having a rare disease? Should it be done for advocacy, to raise awareness, to garner funds, or to simply highlight the beauty in our diversity? Of all of these, perhaps the last one is the least mentioned. This post is in honor of Rare Disease Day, a day on which we celebrate by highlighting that which makes us completely (or perfectly - read on for the significance of these two words) unique.

There is a Japanese art form, known as Kintsugi or Kintsukuroi, that involves repairing cracked and broken pottery with materials that are mixed with gold. (Chances are you might hear more of this, since Death Cab for Cutie has just announced that Kintsugi will be the name of the band's upcoming album.)

We in the West generally try to minimize the appearance of damage (think Bob Ross: “We don’t make mistakes; we have happy accidents”).

Make them birds

From the day we first use Elmer’s Disappearing Purple Glue Stick in preschool, we learn that imperfections (in our sense of the word) are to be masked. We may slather them on purple but we want them to dry clear. As if they never were.

Disappearing Purple Ink

On the other hand, the Japanese almost seem to highlight the brokenness of two things brought together in an act of repair. Rather than damaged, the object is seen as showing a more complete story, with no event in its history masked or hidden. In the West, we often seek out unsullied objects for our collections: that unopened, factory-sealed doll; that mint-condition World War II-era gun that has never been shot; that boxed Commodore 64 complete with all its parts.

But “kintsukuroi” translates as “golden repair,” a two-word pairing that may seem almost paradoxical to our Western minds. If something needs repair, isn’t it by its very nature broken and worth less (not necessarily, though sometimes, worthless as well)?

It is, and then it isn’t. It is broken, but then it is mended, with its brokenness highlighted, celebrated. Its flaws become beautiful storytelling features, communicating with shimmering gold that life happened here. In Japan, far from being worth less, an object that has been repaired using the kintsugi method is sometimes even worth more than the flawless version.

Kintsugi Method

Can something that is broken truly be golden? Yes. I believe the rare disease life is an important example of this. Our bodies are broken, mended with surgeries and medications, and then broken some more; but with many invisible conditions, our flaws can be hidden from sight if we so choose.

Yet should we choose otherwise, our individual stories of living with a rare condition provide us an opportunity to share some of the cracks and blemishes that make our autobiographies remarkable.

But how do we go about sharing these flaws? Do we share them as battle scars, wounds that create a negative impact in our everyday, excuses for us to live bitter, cracks in the pottery? Or do we share them as elements that add value, humanity, and gold to our lives?

Perhaps a piece of pottery that has never cracked or broken (or shows no evidence of this) belongs on the shelf for everyone to ooh and aah over, much like a model in a magazine. Maybe we don’t examine it closely enough to discover that it is really a photoshopped facade. But if life is for the living, I’d rather be pieced back together over and over, each time with gold that brings more attention to the ever-growing number of flaws that represent mistakes made, lessons learned, and grace offered.

The word “perfect” comes from a Latin word that means accomplished, finished, or complete. Applying an air brush effect to a model doesn’t complete her. It creates a new, unnatural, flawless but nonexistent creature. She is only complete with the full effect of her humanity present.

Our flaws can be made beautiful, but we do have to be careful about how we wear them. They should add beauty to our lives and should never be masked or hidden - or unduly lamented. They are not to be deprecated or assist in the victimization of ourselves. They are part of our story, part of our shining history. Our story is incomplete - and therefore imperfect - until all our flaws are stitched into the fabric of our lives with golden thread.

Share what makes you rare. Share your flaws.

My own kintsugi, highlighting my kidney transplant scar.

Choosing A Health Insurance Plan When You Have A Rare Condition

People with pre-existing conditions are finding themselves with more options (and more affordable options) since the implementation of the Affordable Care Act, so I thought I'd offer my take on what to look for when choosing an insurance plan.

1) Accept that you're going to pay more upfront. Many insurance providers offer different levels of coverage, using language such as "silver, gold, or platinum" or "basic or enhanced." The way these typically work is that at the lowest level, you pay a lot less per month (your monthly premium) but pay more per appointment, prescription, test, or procedure; these are typically great plans for people who don't expect to have many medical issues in a given year. At the highest level, your monthly premium is higher but your co-pays are lower. If you have a chronic medical condition (notice I didn't say "illness" - I feel that being "chronically ill" is different than having a chronic medical condition), you're probably better off going with a higher-level plan. Although I haven't had any hospital stays for more than a decade and am on relatively few medications, I still go for the highest level that is financially feasible for me. In the long run, it should save you money, especially if something happens. The difference between a procedure being covered at 80% and it being covered at 90% could be thousands of dollars.

2) If you have a preferred doctor, call him/her first to see not only if the office accepts the plan(s) you are considering, but also if the office has a preferred provider. For example, my doctor's office has previously stated that "so-and-so insurance" is a nightmare to work with. If the insurance company doesn't treat your doctor's office well, do you think that company will do any better when it comes to you? Remember that this can vary by region, so just because your cousin's best friend's sister-in-law's neighbor had a great experience with Insurance Company X doesn't mean you will.

3) Check the insurance company's prescription drug formulary to see if your medications are on it. (Be aware that your insurance company might use a pharmacy benefit management (PBM) system such as Express Scripts.) Familiarize yourself with what the different tiers mean and what tier each of your prescriptions is on. Use this information to estimate your co-pays. Medications without comparable generics will typically be of a higher tier and therefore cost a higher co-pay regardless of the plan you choose; however, you may find that if you are on a rare drug, it does not even appear on some formularies. If you are dead set on getting a plan without a necessary medication on the formulary, call before signing up and ask how such a situation is typically handled and what the common work-arounds are.

These are my top three tips, but I'm sure there are more out there! Comment below if you have a strategy for choosing an insurance plan that has worked for you.

How To Choose A New Doctor When You Have A Rare Condition

It's that time of year - open enrollment! If you're like me, change can be a little bit nerve-wracking. But if you are an advocate for yourself and your current health plan has not been meeting your needs, now is the time to take the plunge and make that change. So how do you go about choosing a new primary care physician (PCP) if your current doctor is not in your new plan's network? I wrote this a while back when working on a transition project with a nonprofit patient group but the guidelines are applicable any time you make a change.

Here are some things to consider when looking at doctor profiles:

  • In what area is he/she Board certified? (Please make sure he/she IS Board certified!) Because Internal Medicine is a more comprehensive certification than Family Practice, I generally go with an Internist. If you opt for a PPO rather than an HMO, you may be able to select a specialist, but I still like having one doctor who can serve as a central person for any issue, even if that means referring me out because the issue is beyond his or her expertise.
  • Does he/she have special certifications in addition to Internal Medicine? I look for a person with additional certification in endocrinology. Although the doctor will still be an Internist and not an endocrinologist, this means he/she probably has special interest in metabolic conditions.
  • Where did he/she attend medical school and complete his/her residency? Be on the lookout for doctors who have attended or worked at some of the top medical schools and hospitals in the country. U.S. News & World Report has listings for both top medical schools and the best hospitals.
  • How many years has he/she been practicing medicine? I occasionally go with newbies, because I feel that their enthusiasm for the field might be an asset. But usually, the more experience, the better.
  • Read carefully between the lines of an online bio to see what his/her strengths are. Look for lines like "enjoys problem solving challenging medical situations." (I've seen such a line.)
  • Go to www.vitals.com (or a similar site, preferably health specific and not yelp) and do a search for each person on the narrowed-down list of physicians that you are considering. Look for reviews from people with complicated cases. If there are negative reviews, read them and try to determine what makes them negative - I will usually forgive a negative review that seems solely based on the receptionist's bad attitude, but if a negative review mentions the doctor's lackadaisical demeanor, he doesn't make the cut. As with any reviews, be wary of reviewers who seem more interested in selling someone else rather than giving an honest appraisal of the doctor you are interested in.
  • Has the doctor ever seen another patient with your condition? Admittedly, this is not likely to be in his/her profile if your condition is rare. But it never hurts to place a call or shoot an email to the doctor's office asking (before making the selection) if he/she knows anything about your condition or is even interested in seriously taking on a patient with it. The response might be very telling.

Most of all, remember that you are in control. If you find that the doctor you selected is not meeting your needs, let your insurance plan know that you'd like to change.

Trail Report: Mt. Whitney

All photos in this post can be enlarged by clicking on them. Please do not use without permission. This blog post documents our quest to reach the top of the highest mountain in the contiguous United States, Mt. Whitney.

Day 0: Before Setting Out

I went into this backpacking trip with several concerns:

1. Getting my heavy pack up a steep trail. (The Mt. Whitney trail has an elevation gain of over 6,100 feet. I needed to carry my sleeping bag, bedroll, clothes, extra shoes, camp stove, camera, extra lens, water, snacks, sunscreen, toiletries, and other miscellany on my back. Wayne had an even heavier load with the tent and bear canister filled with three days’ worth of meals, in addition to his other items.)

2. Staying warm through freezing temperatures at night. (Our camp, located at 12,000 feet, would be extremely exposed.)

3. Going to the bathroom in the great outdoors. (I had done it before but never on a trail that required me to “pack it out” – in other words, carry my solid waste with me.)

4. Drinking enough. (All water we obtained along the trail would have to be treated with iodine tablets, which made me a little nervous. I tried to bring salty, soupy items to eat, knowing they’d provide additional hydration and mask the taste of the water.)

I think fears magnify our hardships. All of these things were undoubtedly going to be hard, but I tried to tell myself not to worry so much, because doing so would turn my fears into self-fulfilling prophesies.

Day 1: Trail Camp (The grass is greener right where you are.)

We set out early (5:15 am), though not as early as we have in the past. We knew we had plenty of time to reach Trail Camp.

On our way up to Lone Pine Lake (our first designated resting stop), several late-leaving day hikers passed us. I found myself thinking, “Of course they are able to go so fast. They aren’t carrying their beds and their homes and three days' worth of food on their backs!”

In reality, though, I’ve had backpackers pass me when I day hiked on previous summit attempts. My thoughts at the sight of them? “Of course they are able to go so fast. They aren’t traveling the whole length of the trail in one day!”

But is the grass really greener on the other side? If you are too busy coveting the benefits of someone else’s journey, you’re failing to appreciate the rewards and beauty of your own. At the end of the day, summiting Mt. Whitney is hard, no matter your method; fortunately, it is also incredible.

We rested at Lone Pine Lake and fired up our JetBoil for the first time, enjoying hot chocolate and apple cider before continuing our journey up the trail.

We used lake water and didn’t treat it, since we were heating it. Our brief conversation about it:

Me: Did this water boil? Am I going to die? Wayne: I let it come to a rolling boil, yes. And you aren’t going to die from it. At worst, you’ll just get Giardia or E. coli.

From Lone Pine Lake, we hiked to Outpost Camp (10,365 feet), where many backpackers opt to spend the night before summit day. Our permits were for Trail Camp, 1,635 feet higher, so we continued after a brief break and went up to Mirror Lake. At Mirror Lake, we enjoyed what was seriously the best backpacking food we packed – bacon jerky. I don’t like bacon, but I think the reason this stuff tasted so good was because it didn’t taste dehydrated. It tasted like it was freshly fried and right out of the skillet.

We ended up staying at Mirror Lake for about two hours, snacking, talking, watching some men sport fish, and playing Phase 10. I was awed by the peaks that surrounded us – Mt. Muir, Thor Peak, and Wotans Throne. I think what was particularly daunting was the fact that these peaks looked so high, yet they weren’t Mt. Whitney. To look at the highest point and realize that you are going higher than that is a little overwhelming.

The next section of the trail – from Mirror Lake to Trailside Meadow and then the final ascent to Trail Camp – was definitely the hardest of Day 1.  The rocky uphill trail was seemingly endless, and the elevation made it even harder to amble up carrying one-third of my body weight on my back.

Regarding fear #3, above: there used to be a solar toilet located at Trail Camp, but the National Park Service had to remove it because it was a privilege that hikers were abusing – stuffing trash down the toilet and doing other things to destroy what would have been a really nice thing to have. Since there are no facilities on the trail, then, hikers and backpackers are given certain guidelines (do your business at least 100 feet from any trail or water source; pack out all solid human waste using a wag bag). I managed (it’s never comfortable), but I am shocked at how many people don’t follow these guidelines. We saw wag bags tucked between rocks, toilet paper near the trail on some occasions, and at least one instance where someone had gone right on the trail. This may sound disgusting, but really, it all just makes me so sad. I don’t have any delusions of nature being “pristine” even without a human presence, but really? Mt. Whitney is a stunning, once-in-a-lifetime experience for so many. Say what you will about government agencies, but the National Park Service is my favorite one. And the NPS indeed does a great service. Don’t take advantage of it and risk getting this trail shut down!

In our final ascent to Trail Camp, I rested in quite a few places and questioned hikers coming down the trail. How far is it to Trail Camp? I was tracking my mileage using GPS and I knew the distance between Trailside Meadow and Trail Camp (approximately 1.0 mile), so in reality I knew the answer to my own question. But it is always so interesting to me to hear individual perceptions of distance. About halfway between the two and with half a mile to go, I heard everything from 0.5 miles to 2 miles in response to my question, with 1.5 miles being by far the most common answer.

Night 1: Tossing and Turning

We arrived at Trail Camp at dusk. While Wayne set up our tent, I crawled into my sleeping bag for warmth and ate space ice cream. I knew I was operating on very few calories and needed to eat, but I found myself with very little appetite. I thought something hot might help; we fired up the JetBoil and made lasagna with meat sauce. I had a few bites before trying to drink some more hot chocolate and eventually calling it a night, promising myself that I would have a hearty breakfast.

I struggled through the night. It is hard to sleep at 12,000 feet (and, as I found out when doing a little research later, hard to eat as well). My breaths were extremely shallow. I fretted about dying in my sleep from lack of oxygen. I was thankful that I had brought a pillow (compressed in my compression pack with my sleeping bag) to prop myself up; I added my clothes to the pillowcase as well. I woke up several times in the night, each time (thankfully) breathing a little bit easier. Day hikers started to noisily come through around 2:00 am and continued in a pretty much endless stream until I finally gave in and got up around 4:30. I went outside to capture the dawn; just before the sun came up, though, it became incredibly cold and I scampered back into the tent and my sleeping bag.

Day 2: Summit Day (Ignorance is bliss on the 99 switchbacks.)

Despite my promise to myself, I had a hard time eating breakfast. I had about five bites of broccoli cheddar soup and nothing else. Wayne collected water to treat and we packed most of our stuff into our packs to leave in the tent. I opted to take only a small bottle of treated water, my camera, Excedrin, jerky, and sunscreen. Wayne brought two bottles of water with Gatorade powder added plus his full pack bladder (also with Gatorade).

Our first task of the day was to hike from Trail Camp to Trail Crest, up the notorious 99 switchbacks. (I have also seen the number given as 97 online, but my count resulted in 99.)

This is a very daunting section of trail, and at such high altitude, it is easy to get winded. We ran into one family on our way up with a teenage son who was struggling with hypoxia; Wayne gave him an electrolyte gel pack, which helped temporarily – but not too long later, they had to turn around and head back to lower elevations.

At first, I was encouraged by how quickly we were progressing up this 2.2-mile stretch. I counted the switchbacks, and in no time, we were already at #33 – a third of the switchbacks, done! By tracking our mileage, I could see that we were even more than a third of the way up. This is where I should have stopped to think, “If it seems too good to be true, it probably is.” But ignorance, as they say, is bliss.

The first 80 switchbacks weren’t so bad. Switchbacks #81-92 were tolerable.

Switchbacks #93-98 made me want to cry.

And #99 made me want to die.

Why don’t the trail guidebooks ever tell you that?

While on the final torturous stretch to Trail Crest, we ran into two women and a teenage girl, headed back down. They looked at us with great concern.

Woman #1: Where are you headed? Wayne: The summit. Woman #1: You need to turn back. It’s too late in the day, and storm clouds are coming. The summit is clouded in. Me: I’m not turning back. This is my third attempt. I am making it to the summit. Woman #2: I’ve done this five times. I’ve never gone to the summit. Trail Crest is my summit. The mountain will always be here. You can always come back. Me: I’m going to the summit, because I don’t want to come back! Woman #2: What do you have to prove? Woman #1: Make 2:00 pm your turnaround time. If you’re not at the summit, you have to turn around. It’s not safe.

These women were really very kind. I regret being so stubborn, and I was glad that we ran into them the next day at Whitney Portal – where Woman #1 greeted me with a big hug and the question on each of their minds: “Did you make it?” There is a lot of camaraderie on the trail.

From Trail Crest, we had a very brutal downhill section to the John Muir Trail junction. Downhill portions of a summit hike are always brutal for two reasons: one, they are just creating more uphill for you later on; two, they become uphill portions on the return journey, when psychologically you are really only prepared to go down, down, down.

Speaking of the JMT: we encountered several thru-hikers finishing up their 210-mile trek from Happy Isles (in Yosemite) to Whitney Portal. The fewest number of days it had taken anyone we encountered was 8; the longest time spent on the trail was 29 days. They were all so proud. I did, however, notice two distinct types of pride. There was the pride of the young, lean, 20-something bachelor hikers, which amounted to, “I knew I could do this, and I did. What, you think I’m surprised? Of course I did it in eight days.” Then there was the pride of the sexagenarian, grey-haired couple, which came across as, “We didn’t think we could do this, but we did. I am so proud of my partner. I couldn’t have done it without him/her. We did it in 29 days.”

At the John Muir Trail junction, we started our brutal final ascent. This was very rocky terrain with a steep dropoff on one side for most of the way. The 99 switchbacks include a short area where railing can be used to stabilize yourself; I think the NPS should consider putting some more railing beyond Trail Crest. (I guess they assume that anyone making it this far isn’t going to fall.)

2:00 pm came and went. We encountered one gentleman who told us that the summit wasn’t worth it because it was clouded in. Nothing to see, he said. Don’t waste your time.

But the sky was getting bluer and the clouds were moving on.

I had to stop frequently for rest. And let me tell you, I will never mock Wayne’s Gatorade (for its unnatural color and ingredients) again. My water was long gone. (I found that I loved the lake water that was treated with iodine tablets and then neutralized with another tablet. It tasted like the bathwater I used to drink when I was younger. A little soapy and dirty. And yes, right about now, everyone outside of the cystinosis world is disgusted. But I guarantee that most of those who have cystinosis or have children with cystinosis understand.) It is possible that the Gatorade Wayne was carrying was what got me to the summit.

For a while, the summit hut was in view. As we got closer it disappeared from our view and all we could see were rocks. The pathway became more and more treacherous.

As time went on, people coming down from the summit became more encouraging. While it would still be a long time before anyone would tell us what we wanted to hear – you are almost there – we did hear a lot of people saying things like, “It’s worth it” and “You’ll make it.” The appearance of the final ascent was completely overwhelming, looking to be entirely made up of scree. As we turned the final corner, we encountered a man with his teenage daughters. He told us that we had about 200 yards until we could see the summit hut and then a final 200 yards until we were there.

I know my football fields, and he was a little off. I think it was actually about four football fields before we saw the hut, but then only half a football field until we were actually there. We arrived around 4:30 pm. The weather had cleared, and the view was absolutely breathtaking.

I cried at the top. I can’t even put words here to really describe it, which must be surprising given that I’ve used so many words to document the journey.

Since I can’t really describe the feelings I had pulsing through my veins at the top, allow me to be introspective about the past for a moment.

In November 2011, I was told that my pulmonary function was deteriorating. My lungs were not at full capacity, and they were not functioning even at the capacity that they had. I asked what I could do. I was told that “walking on a treadmill at an incline might help.” For several weeks, I had a hard time processing what I had been told. I wanted to help myself, but treadmill walking sounded so boring.

I had never been an outdoorsy person, but there was one goal I had in mind: hiking to the top of Half Dome. When I did it for the first time in June 2012, it changed me. I saw all of God’s creation that I had been missing. I also needed Wayne to make an emergency phone call to the park rangers, who brought me oxygen.

(God's creation is right where you are. You don't have to climb mountains to see it. You don't have to leave your home. But I guess I needed the wakeup call of the rocks crying out.)

I have done Half Dome two more times (fortunately, minus the ranger call and need for oxygen!) since then, as well as many other hikes in the Sierras. My lungs feel strong. Nature just doesn't get old.

So you know what I'm thankful for most of all? Not the mountains or the alpine lakes. Not the rocky trails or the breathtaking sunrises. Not anything I've done on my own (because I've done nothing on my own). I give up far too easily. I am a weakling through and through.

What I am most thankful for is the diagnosis that put me atop that mountain.

Without being told that my lungs were failing me, I never would have experienced all of this.

God blessed the broken road. Thank God for my imperfect lungs.

Okay, I'm going to finish up Day 2 before I start crying again.

Of course, once at the summit, we were only half done. We had to get back to Trail Camp, preferably before dark. The return trip was tough, with the sun finally out and beating down on us until it sunk below the mountains. We were still afforded some beautiful views of the areas below us.

Night 2: Weathering a Storm (Storm clouds make for beautiful sunrises.)

We indeed arrived back at Trail Camp just as it was starting to get dark, but before we needed to use our headlamps. I went straight into the tent and crawled into my sleeping bag without dinner. Aside from a few bites of soup, all I had had during summit day was about 20 ounces of Gatorade and a couple pieces of chile lime beef jerky. I heard Wayne filling the JetBoil as I drifted off; he brought me two cups of hot chocolate. I was able to drink about half of it.

I slept much better than the previous night, not waking up at all until the storm came. At about 1:00 am, I awoke to the sounds of rain and moderate wind whistling around our little two-man tent. A few hours later, my side of the tent had come up and was threatening to collapse on top of me, and the winds were so strong that we knew we just had to wait it out. To be honest, I was pretty scared.

Even after it started to get light, we remained huddled in the tent waiting for the winds to die down. When we did venture out, the sun was already up - and the most gorgeous sky greeted us.

Day 3: God Bless the Cook (If you made it on something other than a camp stove, you are my hero and I'm eating it.)

As the wind died down, it became evident that the rain might follow us as we hiked down the mountain, so we opted for an early start. It was difficult to put on our heavy packs again, but I was already dreaming of the infamous burger at the Whitney Portal Store.

We began our trek. My knees ached as we descended, with the rocky terrain presenting an additional challenge. (Stepping down from tall rocks can be more difficult than taking large steps up them.)

I was resting just below Lone Pine Lake waiting for Wayne (we sometimes hike separately) when another descending hiker that I had encountered higher up passed me by. "I thought you'd be eating that burger by now!" he called out. "I'm salivating," I replied.

Soon, he said.

Not soon enough. But I tried to remember lessons learned from Clouds Rest.

Clouds Rest is a mountain in Yosemite. It's a hike I did in September 2012, and the views from the top are stunning. It's a beautiful and prominent mountain, difficult but less strenuous than Half Dome according to most guidebooks.

Clouds Rest has a very distinctive shape. It seems to be smiling at you. The hike is an interesting one: a mile and a half into the hike, you very quickly gain 1,000 feet in elevation via strenuous switchbacks. This puts you on the ridge, but you see that smile shape? You then hike down before going back up. It doesn't look like much, and on the way to the summit, it doesn't even feel like you are going down so steeply.

On the way back, though, when you are already tired from hiking 10 miles, it is pure torture to then have to go steeply up. Every muscle in your body screams that you are supposed to be headed down.

Clouds Rest is the only trail on which I have ever cried tears of pain.

We passed Clouds Rest on the way to Lone Pine for our Whitney hike. Every time I see Clouds Rest, I hear Taylor Swift's "We Are Never Ever Getting Back Together" in my head. I will never do Clouds Rest again. (Never say never, right?)

But Clouds Rest provides gorgeous views. I didn't know when I hiked it that I would never do it again. What Clouds Rest taught me is that I need to enjoy every bit of scenery as if I'll never see it again.

So that's just what I tried to do as I descended the seemingly endless trail to Whitney Portal. Every time I felt discouraged, I tried to exit my own tunnel vision and observe the beauty around me.

When we finally arrived at the Whitney Portal Store, there were already many backpackers enjoying their burgers. I don't know if these are amazing burgers by normal standards, but they are what everyone - particularly John Muir Trail thru-hikers - dream of on their way down. God bless the cook, who has undoubtedly made the dreams of thousands of backpackers a reality.

We ran into the ladies who had warned us to turn around. They were full of genuine delight to hear that we made it to the summit.

As expected, the burger was delicious.

This was the hardest physical challenge I have ever experienced. I don't know how to top Mt. Whitney; I don't know that I want to try to top it. There are certainly other summits I have in mind, but for now, I'm just going to enjoy the memories of peak bagging this one.

Hope is a Two-Word Phrase

I'm at a place in my life where I am not only content, but also at peace with the fact that I might die tomorrow for whatever reason. (I hear North Korea has some missiles pointed at us on the West Coast, y'all.) I'm grateful for what I've had and ready for what may come. But I don't accept cystinosis as a reason for imminent death. So I am very glad to see this, published by the NIH:

"Prior to the use of renal transplantation and cystine-depleting therapy, the life span in nephropathic cystinosis was no longer than ten years. With these therapies, affected individuals can survive at least into the mid-forties or fifties with satisfactory quality of life."

There is much to be hopeful about within this excerpt. But even more specifically:

Hope is a two-word phrase: at least.

And then there is this, published in a piece by Drs. Gahl and Nesterova: "Renal allografts and medical therapy targeting the basic metabolic defect have altered the natural hisotry of cystinosis so drastically that patients have a life expectancy extending past 50 years."

All the sad stories go viral very quickly within my community. Do you have the courage to share true hope - the hope that we don't have to wait for, the hope that exists in the here and now? In our understandable zeal to raise research funds for the children, dare we share?

Hope is a two-word phrase: at least.

I may not be the bravest person around, but I have at least this much courage.