When Someone With My Disorder Passes Away

Inspired by When a Child With Your Child’s Disorder Passes Away

Someone died this month. Someone who had the same rare disease as me. He was 19. I didn’t know him, though I followed his story on social media.

Two months ago, someone else died. She also had the same rare disease as me, and I knew her personally. She was 30.

Three months ago, a mother held my four-week-old daughter in her arms. This mother’s own daughter passed away two years ago, also at the age of 30. She had my rare disease as well.

A year and a half ago, a young mother passed away and left her child behind. She also had the rare disorder that I have. She was 28.

When I was in college, I remember collapsing on my friend’s bed in a puddle of tears. He asked me what was wrong. I told him one of my childhood friends had passed away. She was 25. And of course, by now, you know the story — she had cystinosis, too.

Are these merely nameless statistics, as my writing might suggest? When others post their tributes on social media and I remain silent, am I showing how heartless I really am?


I remember as a child attending family conferences every other year in San Diego. One year I played tennis with a boy a couple years older than me. Two years later, he wasn’t there. He was 13 at the time of his passing.

I have a cystinosis family directory, dated 1985 — two years after my diagnosis. Sometime in the late 1990s, my mom went through and wrote “deceased” on each entry for which she could confirm that information. I even helped her. Oh, you forgot so-and-so, I would say matter-of-factly. Remember, he died last summer?


Have I become numb? Expectant, even, that early death is just part of this life I live?


It still hurts. Every single time.

First, the pain.

Whether or not I know the person who has died, it is tragic. I think of the family. I wonder what the person wanted to be, what he or she had already accomplished; I think about the times I shared with the person if I knew him or her. I think about how much was overcome. I think of all that was overtaken by cystinosis, even so.

Next, the selfish hunger.

I’m human. I want to know how the person died. I crave information. “She died of cystinosis” isn’t specific enough. I won’t go into the ugly details here, but yes, I do compare myself and my situation to try and tell myself that I’m not in the same danger. I’m not proud of it. It’s painful to even write that I do that.

But it’s something we all do: Your parents each die of cancer, and you mourn. You never stop mourning. But later, when you have the emotional time and space to add something else, you realize your own risk and schedule that mammogram or colonoscopy.

Third, the guilt.

Obviously, if survivor’s guilt was uncommon, there wouldn’t be a term for it. I’ve seen people who are more compliant and on top of their care than I am die at a younger age. I feel guilty that they left before I did. (But we humans rarely get what we deserve, and life isn’t fair.)

I also often feel guilt that I didn’t get to know the person. No, we’re not all best friends. But because it feels like we’re family, I do experience regret at not reaching out.

Always, the worry.

I wonder who’s next. I wonder if the same thing will happen to me.

And now, I worry about my daughter. Will she know her mother? Will she say a tearful see you later to me when I drop her off at her first day of kindergarten, or will she say a tearful goodbye earlier than that and know me only through photos and her father’s stories?

Often, the walls.

Despite feeling guilty about not getting to know the person, I put up walls. I’ve been doing this ever since that boy I played tennis with in the 1980s went absent at the next conference. I fear getting close to others within the cystinosis community. I fear having to say goodbye.

Later, the anger.

Because the cystinosis community is like family, when someone passes, we all feel the pain. The tributes go up on Facebook. I find myself prone to anger and resentment — you never acknowledged this person during life, and you never shared her accomplishments while she was living, but you’ll use her death to garner sympathy?

And yet.

And yet. That’s not what’s happening at all. People are merely sharing the pain. The sadness for the person’s family. The shock that this person was taken at an age when most are in their prime. The fear for their own children’s lives. The fear for their lives. The grief.

It’s true that we should ALL appreciate people more while they’re living. But on the list of ALL, folks, my name appears first.

Finally, the mingling of hope and sadness.

The pain comes back around. And I just feel sad. For our community’s loss. For a glimpse of (perhaps) my destiny.

But this time, there’s also hope. When we all come together as a community and mourn a loss, we also share love. We unite and pray and work even harder for better treatments and a cure. We want this person’s death not to be in vain. We are inspired to donate to research. Our friends are inspired to donate to research. We hug our babies more tightly, whatever age those “babies” may be. We are inspired to live. We are inspired to never forget.

Through it all, the family bond.

Having this family, having any family is tough. But it’s so important that we have each other and don’t have to go it alone. We won’t get along with everyone, and some of us have very little in common. But we do have this is common: our victories and our losses are shared.

Birth Story

It was a Tuesday, and I had three scheduled appointments: a non stress test, a checkup with the OB, and my final growth scan before delivery. 

The non stress test went as usual, which means it didn’t go too well at all; my baby didn’t pass within the time period and so I continued to sit on the monitor. Her heart rate was strong and I could feel her movement, but her heart rate variability just wasn’t quite hitting the benchmark. This had been the case in all but two of the past eight NSTs, though. Since I had an appointment with my OB anyway, the testing center let me go.

The OB appointment went great and was just about finalizing birth plans. My c-section was scheduled for three weeks later, so I left the doctor’s office with a cheerful, see you at the delivery!

But oh, the ultrasound. The tech was very stoic, but she was also new to me and I told myself it could just be her personality. She offered us no “vanity” photos, though, and I could see with each body part she measured that the results were showing as <1%. She went to get the doctor as is the norm, but it seemed to take longer than usual.

When the doctor takes this long, either something is wrong with you or something is wrong with the person who was seen before you.

Finally, the doctor came in.

E hadn’t grown since her 32-week scan.

Well, six grams in three weeks.

I remember sixth grade science.

Six paperclips of weight gain.

Still less than four pounds. IUGR.

“Placenta could be shutting down,” I heard the doctor say.

We’ll admit you. Give you a steroid shot to grow her lungs.

Give you another one 24 hours later.

Give you your daughter 24 hours after that.

And that’s pretty much exactly what happened.

The monitors were strapped to my belly and the shots were spaced 24 hours apart. I met with anesthesiologists several times. Truth be told, I worried about the epidural making me lose the sensation of being able to breathe, which I had been warned about. The doctors agreed to giving the epidural very slowly and stopping when requested.

(Who knew they’d actually make good on that promise. There is no describing the intensity of feeling.)

No one was quite sure whether this would be like having a 32-weeker or a 35-weeker.

I walked into the OR at 3:00. At 3:23 E came screaming into the world, 3 pounds 15.5 ounces, 100% healthy, and breathing on her own. I was wheeled to recovery, where I immediately put all my focus on waking up my lower body. About an hour later, I walked to the intensive care nursery and held my daughter for the very first time.

I didn’t realize the opportunity to hold her would soon be taken away from me, but that’s part of the postpartum story for another day.

10 Myths About Cystinosis To Avoid

1. It’s a kidney disease.

This is often the simplest way for parents and children to explain the condition, and it’s also a highly relevant way to do so pre-transplant. Before a kidney transplant, the effects of failing kidneys often dominate the conversation. Everything from general malaise to unbalanced electrolytes can be linked to renal decline.

But strictly speaking, cystinosis is a lysosomal storage disorder than affects all systems of the body. Because the cells of a person with cystinosis aren’t able to properly expel cystine, this amino acid builds up to toxic levels everywhere. It’s certainly fair to say this usually has a severe impact on the kidneys early on, with damage accumulating over time and necessitating dialysis or an organ transplant.

But while we’re on the topic of myths, it’s interesting to note that some people with cystinosis (even the infantile, nephropathic variety, which is the most serious and “classic” type) don’t need a transplant until their 20s or (more rarely) 30s. Cystinosis is a lysosomal storage disease that affects the kidneys, as well as other organs.

2. Symptoms begin in the first 1-3 years of life.

This is usually, but not always, the case. I know a handful of people who were diagnosed — yes, with the infantile type — after age 3. Does this mean their cystinosis is “less severe”? My thoughts on this are many but beyond the scope of this article. Suffice to say, it can be complicated and hurtful to make assumptions about the severity of individual cases. Let’s leave the comparisons at the door, shall we?

3. A kidney transplant “fixes” it.

As I mentioned previously, kidney issues will often dominate the first couple decades of life with cystinosis. I went on dialysis at 16 and had a transplant at 18. A successful transplant (and sadly, they aren’t all successful) should resolve those kidney issues and did in my case. My transplanted kidney has remained unaffected by cystinosis, and my electrolytes are in balance without any medical intervention or supplementation. Despite my transplant occurring 20 years ago, my creatinine (one measure of kidney function) is better than that of most healthy people I know.

But remember how cystinosis isn’t strictly a kidney disease, but rather a lysosomal storage disease? Cystine won’t build up in the transplanted organ, but it continues to build elsewhere. Cystine depletion therapy is still critically important to combat accumulation in the eyes, brain, muscle, liver, and elsewhere. The disease continues to progress in these areas, although many people experience such symptomatic relief after a kidney transplant that the progression doesn’t register on their radar. Unfortunately, though, it can catch up with you, especially if you relax on your medication.

4. Everyone with the same type of cystinosis will have similar symptoms.

There are certain characteristics of each type of cystinosis (infantile, juvenile/adult-onset, and ocular) that generally hold true. For example, Fanconi syndrome is typically associated with infantile and not with juvenile/adult-onset or ocular. That being said, I have known people with infantile who did not have Fanconi.

The way I look at it, there is a long list of symptoms associated with (for example) the infantile type. But it’s highly unlikely you’ll experience all of them. For that reason, you can have very different symptoms from someone else, and you may not even have overlapping symptoms.

As an example, I don't have any of the bone issues associated with the disease. But I do have significant muscle wasting in my hands and esophageal musculature. I have a friend who has many bone problems and has had multiple corrective surgeries, but he doesn’t have the muscle issues in his hands and esophagus. We’re both in our late 30s.

I like to say that the only thing we all have in common is a body that doesn’t properly handle cystine.

5. It’s a fair-skinned, blond hair, blue-eyed disease.

Most people know this isn’t true, but one prominent researcher used to often speak of his regret about making such a claim in a scientific journal in the early days of cystinosis research. According to him, publishing this claim led to delayed diagnosis in the case of at least one person that he was aware of — an African American boy who exhibited the symptoms but whose family was initially told couldn’t have cystinosis due to his ethnicity.

Cystinosis has Germanic roots, and much of the Western cystinosis population IS blond and fair. However, migration, imperialism, colonialism, globalization — whatever you want to call the spreading and mixing of humans — means that there are people with cystinosis on every continent except Antarctica and of every skin, hair, and eye color imaginable.

6. There’s little known about the disease.

There is actually SO MUCH research behind this tiny disease, and we are so fortunate. Significant research goes back more than 50 years. But make no mistake: There’s still a lot to learn.

7. It’s an autoimmune condition.

I’ve seen this crop up lately. Cystinosis is not an autoimmune condition according to two authorities I asked, though some people may have autoimmune diseases and cystinosis concurrently.

8. Cysteamine eye drops prevent blindness.

This is half of the story. Eye drops reach the cornea, which doesn’t have a blood supply. However, oral cysteamine reaches the retina, which does. Keeping both parts of the eye treated will give you the best health outcome possible. So many people think they can skip oral cysteamine, and as long as they do the drops, “at least the eyes are protected.”

9. It receives no government funding.

This is a claim made frequently that isn’t exactly true, and yet, for all intents and purposes, it practically is. I’m just a stickler for facts ;)

Cystinosis research does in fact go on at the National Institutes of Health, a medical facility funded by the government. I would argue that no real innovations in treatment have come out of the NIH in a while, so there’s that. But medical professionals there do conduct valuable data collection as part of their cystinosis protocol, which helps researchers better understand the disease.

Federal legislation, such as the Orphan Drug Act, incentivize rare disease drug development, including treatments for cystinosis. The bill gives pharmaceutical companies perks like market exclusivity and some financial assistance.

But there’s no doubt that the real innovation is being driven by privately funded studies, which rely entirely on donations. In 50 years, if we only had government funding, the status of cystinosis would be pretty much what it is now. With private funding, cystinosis as we know it (in the First World — important detail) will be completely different and possibly nonexistent beyond childhood in that same 50-year time period.

10. It’s incurable.

As of January 2019, there have been no confirmed cases of someone born with cystinosis now living disease-free. (There may have been a young man cured in Europe, but he passed away before confirmation.)

But this doesn’t mean it’s incurable. It only means a cure hasn’t completed the trifecta of being discovered, implemented, and proven effective.

Cystinosis may very well be curable, and in fact, researchers like Dr. Stephanie Cherqui believe the first step, discovery, is already complete. What’s even more exciting is that her methodology has just been approved for human clinical trials (implementation).

What remains is proven efficacy. There are some hurdles, but I’m hopeful that we’ll get there sooner than we think.

To my high school calculus teacher, who changed my life

Dear Dr. Enenstein,

We may have called you Mr. at your insistence, but I know to give reverence where reverence is due. 

And reverence, perhaps, has no worthier a recipient than a life-changer, particularly when that life can count on but one hand the others (outside family, of course) who hold the same lofty position.

Dr. Enenstein, Life-Changer Enenstein, but never just a mister, and certainly never just a calculus teacher.

In a lot of ways, I was a straight-A fraud. I may know what a tangent line is, and I may know what slope is, and I may be able to find a derivative. I may even have it emblazoned on my brain that a derivative is the slope of the tangent.

But I have a secret, one that I've held since high school: I've really no idea what a derivative is, you lost me somewhere on the z axis, and when I speak of integrals now, I speak purely in the non-mathematical sense.

And yet, here's what you taught me, lessons that were a shall-we-say integral part of my growing into an uncertain future:

1. Defiance.

When Carlmont would make no allowance in its attendance policy for my health, you sided with the administration and told me that if I missed a test, I'd get a failing grade just like the other class-cutters.

You'd never know it, and many will never understand it, but being treated like everyone else was exactly what I needed.

And so, when I had to have surgery the morning of a calculus test, I exercised my new-found defiance — not toward you, but toward hospital staff that greeted me when I awoke in the recovery room. I insisted — rather, demanded — that they allow me to leave and go to my calculus test.

And when I showed up, three minutes late with tardy slip in hand and surgical bandages on skin, you smirked and said, “Why are you here?” I just glared and demanded my test, secretly pleased. 

2. Confidence.

When I felt good at nothing, you urged me to join the lunchtime calculus club.

This invitation-only group, to be honest, wasn’t actually my cup of tea. This should have tipped me off to the fact that later endeavors into multivariable calculus, linear algebra/discrete math, and non-Euclidean geometry wouldn’t be nearly as successful as my high school calculus experience. (You mean people actually talk about mathematical theory for fun and enjoy proving as-of-yet unproven postulates?)

But because of your vote of confidence, I felt like I had a new purpose beyond merely getting through the school day so I could get to the hospital for dialysis.

3. Philosophy.

Your strange end-of-year assignment to write an essay on our philosophy of life was the first time I sat down and grappled with my own metacognition. (Is that sentence recursive? My brain hurts thinking about it.)

I won’t rehash that philosophy here, but suffice to say, I let my defiance take shape once more with statements like “in my philosophy, I compartmentalize, so writing a philosophy paper in math class is weird” and “life doesn’t give lemons — you have only your perspective to thank for that bombshell.”

4. Problem-solving.

I remember a lot of things about calculus class. You had a tremendous impact on me. You were smart in math and in life. You were a voracious whiteboard-writer. And you crossed your T’s before you drew the vertical line.

These last two facts are important because, well, together they meant that I observed unconventional T-crossing nearly nonstop for an hour each day for an entire school year. I can still picture it so clearly. So engrained did your left-handed writing become that for the next two years, I too crossed my T’s before grounding the horizontal dash with the vertical line.

And guess what? The end result was the same. With mathematical proofs, you taught me that there were elegant solutions for getting from A to B and sloppy ones that involved unnecessary detours or overly complicated steps.. With some problems, though, you could take the same number of steps — but do things in a different order — and reach your end goal.

5. Ownership.

By unapologetically posting our scores on the classroom wall the day after a test, you showed that we all have to own our mistakes, sometimes painfully, and sometimes publicly.

So with your impact well-established, I’ll end this with Quod Erat Demonstrandum.
Or, should I conclude the way you taught us to wrap up proofs instead, because like a pHD in a high school classroom, Latin can seem a bit stuffy:

WWWWW. (Which Was What We Wanted.)

With fondness and gratitude,


A Geriatric, Cystinosis Pregnancy Part 4: Pregnancy and Cystinosis

When I went into this pregnancy, I thought perhaps the only factor making it high-risk would be cystinosis and associated conditions, like kidney transplant. I had a vague notion that practitioners would treat my age as a risk factor for certain conditions (like preeclampsia and gestational diabetes) as well.

As it turns out, I have many risks and it seems like the list continues to grow. Here’s the total right now:

  • cystinosis

  • advanced maternal age (37)

  • kidney transplant

  • medications (particularly tacrolimus for kidney transplant and labetalol for blood pressure, both category C by the FDA’s former classification system; they’re both associated with low birth weight in studies, but remember that correlation and causation aren’t the same - whether low birth rate is caused by the drugs or the underlying condition necessitating the drugs in the first place is hard to tell sometimes)

  • gestational hypertension

  • anemia

  • hypothyroidism with thyroid hormone resistance

  • single umbilical artery (SUA)

  • abnormal placement of umbilical cord  

  • history of problematic fluid regulation

  • reproductive technology (raises risk of some conditions)

  • latent tuberculosis

  • muscle wasting

  • stented superior vena cava 

  • abnormal pulmonary function

But in this post I want to talk specifically about cystinosis and my personal thoughts, both related and unrelated to any risk with the pregnancy itself.

Oral cysteamine and pregnancy don’t mix, as far as we know

The main issue in a cystinosis pregnancy is that oral cysteamine seems to be incompatible with normal fetal growth. Pregnant mice given cysteamine were observed to have babies with birth defects that were teratogenic (developmental) in nature. For this reason, oral cysteamine (Cystagon, Procysbi) should be discontinued in pregnancy, according to many researchers. 

There’s some debate whether it’s safe to restart oral cysteamine during the second trimester, when the fetus is done developing and just needs to grow. To use an example, mice on oral cysteamine were shown to give birth to babies who were missing limbs. Obviously, by the second trimester in a human pregnancy, all the limbs are present.

Still, though, I’m not going to be a guinea pig for the theory that oral cysteamine is safe after the first trimester, so I remain off of it.

Is this problematic? All I can do is relate what I know and my personal experience.

The importance of consistent treatment

Any time someone with a classic case of cystinosis is off oral cysteamine, cystine is allowed to build up. According to researchers, cystine accumulation does damage which is, in many cases, irreversible.

But I truly believe that if you are relatively young (20s or early 30s) and have adhered to a recommended/prescribed cysteamine treatment schedule without long treatment gaps for the vast majority of your life, your body can handle the lapse during pregnancy.

You have to do a risk assessment and remember that there are other ways to have children: surrogacy and adoption come to mind. But if you want to carry a child and have done well on oral cysteamine (and in my opinion, are also post-transplant since going off cysteamine can accelerate renal failure in your native kidneys), I think it’s worth it and you’ll be fine going off the medicine for 40 weeks. 

Now, for my own experience

I do not fit my own recommendations. I was largely noncompliant (a word I don’t have a problem using for myself) with cysteamine for much of the first half of my 20s. I went for years without this treatment, blissfully ignoring (but not ignorant of) the warnings of long-term effects I had been told.

In the short term, I felt no effects of cystinosis and in fact felt in the best health of my life. (I sometimes feel like you’re an adult in your 20s only by legal standards; in so many ways, you still have so much growing up to do.)

So I accumulated a lot of damage that became most noticeable in my early 30s. Without going into specifics, I will say that I’ve wondered often during this pregnancy how much different things would be if I had gone into it without so much cell damage. I really shot myself in the foot, and I can’t go back - so regrets serve no purpose. But I can spread this message in hopes of helping others avoid the same mistake.

In some ways, it’s delightful (yes, that’s the word that sprang to mind) to be off cysteamine again. But I know - despite the judgement of some that my baby needs me to breastfeed - that I will go back on it as soon as I can after delivery.

My baby needs ME to be there in 10 years more than she needs to breastfeed for a couple.

Further, I know I will do everything in my power to never miss a single dose of cysteamine once I go back on it. I’m excited to be - but also dreading the side effects of - making this empowering decision day after day, until there is a cure or life runs out.

Some of the risk factors I listed above obviously stem from cystinosis or kidney transplant and are unavoidable, but some could have been largely prevented or at least mitigated with good medication adherence in my 20s. If you find yourself in a similar position where you are prioritizing feeling good now over running a slow and steady race of better overall health, please don’t hesitate to reach out. I’d love to listen, and if you’re interested, share more details of my story.

A note about cystinosis and male fertility

It’s long been noted that women with cystinosis can get pregnant whereas men with the condition are sterile. However, change is on the horizon.

At least one man with cystinosis has biologically fathered children, and there’s currently a European study looking into male fertility and cystinosis that seeks volunteers. Remember, “status quo” is so often a negative phrase for a reason. There’s always reason for hope in our little world of faithful, committed volunteers and dedicated researchers.

A Geriatric, Cystinosis Pregnancy Part 3: Pregnant at 37

I definitely never intended to be pregnant at 37 (well, until a few months ago, that is - this was a planned pregnancy), but I always intended to be pregnant. Sometimes life’s curveballs get in the way. Like pregnancy losses. Failed adoptions. And yes, even professional aspirations.

(While I never planned to put my “career first” and start a family “later in life,” careers don’t always allow time for dealing with pressing matters that you don’t realize are pressing - like infertility. Before you know it, you realize you need to make the time.)

I don’t want to dwell too much on my age, which has led to my pregnancy being labeled a “geriatric” one. I have other friends who have been pregnant at this age or older, or are currently pregnant with their first, second, third, or fourth child. I’m not too unique in this. Plus, much like the media that’s critical of the media that’s critical (not a typo there) of Meghan Markle’s age, I don’t think it’s helpful to shift focus from the joyous expectation of new life to the dreary implication of one fading.

But I do want to address a few things here, before focusing more on cystinosis and my pregnancy (notice the key word “my” there - not all cystinosis pregnancies are the same) in Part 4.

Let’s start with the ubiquitous “everything happens for a reason” adage. Myriad articles and blog posts address this very saying, increasingly with anger and frustration.

But I believe it. I can’t NOT believe it. It’s been fundamental to my existence, faith, and outlook. And yet, I wouldn’t phrase it in quite that way.

I’d phrase it more as it appears in the Old Testament of the Bible:

Many are the plans in a person’s heart, but it is the Lord’s purpose that prevails.

Practically speaking, what does this mean? Does it mean that God wanted my earlier pregnancies to fail? Of course not. God doesn’t want anyone to perish. To learn more about my perspective on this, please do contact me. It’s one of a few things I love to discuss.

So where do I stand with the purpose that has prevailed? A few thoughts:

Being pregnant at age 37 means I have wisdom I didn’t have before.

Being pregnant at age 37 means I’ll be able to tell my son or daughter about Kilimanjaro, the John Muir Trail, Mt. Whitney, and my quest to become physically strong enough to carry a child into this world — including both successes and failures.

Being pregnant at age 37 means my child is more likely to feel the impact of my genetic disease, an impact that would have been negligible in my 20s. I don’t believe this is a negative. (More about this in Part 4.)

Being pregnant at age 37 means I have to lean more heavily on a faith that desperately needed to grow to get me here. A faith that will continue to grow through this story.

Being pregnant at age 37 means I can say I have something in common with the Duchess of Sussex.

Being pregnant at age 37 means I can tell my child about all the years that we prayed. All. the. years. God is faithful and hears our prayers.

Being pregnant at age 37 means a stronger marriage that perhaps had more downs than ups in its fledgling years.

Being pregnant at age 37 means I’m right where I’m supposed to be.

A Geriatric, Cystinosis Pregnancy Part 2: When the Doctor is Stumped

If you didn’t read Part 1, be sure and take a look at how this crazy story began.

Outside the imaging center where my second-opinion ultrasound took place, I sent a quick email to my reproductive endocrinologist. “Heartbeat found,” the subject read.

I think it took less than a minute for the phone to ring.


There was some silence. “Jessica?”

“Yes?” It was Dr. R.

“That’s impossible.” More silence.

I divulged it all: My quest for a second opinion. My bottle of beer after the blighted ovum diagnosis. My concern over stopping my pregnancy-sustaining medications at Dr. R’s orders. My relief that I didn’t schedule a D&C for earlier in the week like he wanted.

The heartbeat measuring strong.

The “empty sac” that now, four days later, contained a yolk sac, a fetal pole, a heartbeat, and a crown-to-rump measurement consistent with six weeks, three days.

He started by reassuring me not to worry about the missed medications, that they stay in your system for a few days and that the most important thing was that I restart them immediately. (I didn’t tell him that I already had.) He then insisted on seeing for himself.

Despite my reluctance to ever return, I was back at his office one week later. I was nervous. Had it all been in my head? Would the sac be empty? Has the embryo disappeared?

This time, Wayne was with me. He had never seen a fetal heartbeat. Although I had seen one with a previous pregnancy, when he excitedly came to the next appointment that go round, it was gone. Would the same happen here? Would the heart even be there?

Dr. R came in and I could have sworn he was a bit nervous. There was no small talk. He set up the ultrasound. He turned the screen so I could see it.

And it, I did see. I breathed. “Thank God,” I said. “It’s still there.” For me, that was the end of the appointment. I was ready to get up and leave. But Dr. R wasn’t.

“I’ve never seen anything like…” he started. Silence. “But it was empty when we….” Silence. He turned to the physician assistant in the room. “Get [JP] in here.” He turned to me. “[JP] was here. You remember, she was here. She saw the empty sac too. A tiny empty sac at six weeks, one day. When we should have at least seen a yolk sac. A tiny, empty gestational sac measuring four weeks at best.”

JP came in and stared at the screen. Dr. R briefly used the doppler. The chugga-chugga-chugga of the heart of my baby filled the room. JP covered her mouth. I heard the nurses out in the hallway, just outside the door, cheer. 160 beats-per-minute strong.

Deep down, I hope I’ve made him hesitate to ever diagnose a blighted ovum so early again. Even if the dates are without-a-shadow-of-a-doubt exact, as is the case with my pregnancy, miracles happen.

A Geriatric, Cystinosis Pregnancy Part 1: When Pregnancy Failure or Loss is Misdiagnosed

I’ve been meaning to relate the story of my pregnancy for a while now, but due to previous losses it’s actually somewhat difficult to believe that I really am pregnant and well into my second trimester.

But let’s start at the beginning. Early summer, 2018.

My dates were known from the get-go due to close medical monitoring. With a positive pregnancy blood test at exactly four weeks, things initially looked good.

The trouble began two days after that first blood test, when my pregnancy hormone hadn’t doubled. I received the phone call with the word every woman trying to get pregnant hates to hear: “nonviable.” Repeat the test in two more days, but it’s likely a nonviable pregnancy.

My hormone rise was even worse on the third and fourth checks, with a doubling time longer than 96 hours. Nevertheless, the level was rising, and because of my history of ectopic pregnancy (implantation outside the uterus), the doctor wanted to do an early ultrasound. A rising level coupled with an empty uterus could indicate another ectopic.

So at five weeks and change, I went in for the ultrasound. The doctor wasn’t available, so a nurse performed the test. She searched and searched and took a few images of my uterus for the doctor. She then turned off the machine and told me what would probably come next.

“I didn’t see anything. The doctor will likely order a blood test to make sure you’re healthy enough to receive methotrexate, and we’ll take it from there.”

I stared blankly into space while she went to hand the images to the doctor. Methotrexate is used to treat ectopic pregnancies that are caught early. It essentially arrests growth by depleting the body of folic acid; an embryo outside the uterus will typically stop growing and be absorbed into the body after methotrexate administration. Last year, I had an ectopic that had to be treated with two rounds of methotrexate.

An embryo outside the uterus cannot survive, and despite advances in modern medicine, there’s no way to move it to where it needs to be. It’s mind-boggling and tragic. What adds to my frustration is the fact that I am an organ recipient: someone else’s kidney thrives inside my body. It came from miles away and was surgically placed hours and hours after being removed from its owner. And yet we don’t have the knowledge to move a growing embryo a couple of inches within a single living body?

But to go back to the narrative at hand, the nurse returned to the exam room some minutes later. Clearly a bit frustrated herself, she told me that the doctor felt like he saw something in my uterus. Her tone of doubt told me she wasn’t buying it, but thankfully she was sending me home without orders for blood work or methotrexate.

I went home angry — angry that the nurse had jumped the gun and even breathed the words methotrexate and ectopic. Nevertheless, I didn’t have a whole lot of hope.

I returned at six weeks, one day (again, my dates were exact). This time, the doctor performed the ultrasound. He eventually found a tiny sac measuring closer to four weeks. It was empty.

“I thought I saw something for a minute, but I was mistaken. There’s no yolk sac or fetal pole, only a gestational sac. I’m so sorry.”

At six weeks, you can’t always see a heartbeat, but you certainly should have more than an empty sac. The doctor left the room and came back with a brochure about my options. He recommended a D&C right away. (I had a D&C with a previous miscarriage, though in that case, I was nine weeks and there was clearly a baby, but its heart had stopped beating at seven weeks.)

I said I’d like to wait and miscarry naturally this time. He said we could give that a try, but due to risk of infection, if I hadn’t passed tissue within a couple weeks, I’d need to call to schedule the D&C.

Due to it being a medically assisted pregnancy, I was also on three hormone medications to help keep it healthy. He told me to stop all three immediately. Doing so typically results in miscarriage in the case of a nonviable pregnancy within 10 days.

I went home angry, but this time at no one — only at the situation. I put my hormone medications away. I started reading accounts online to get an idea for what to expect. It did sound like most women miscarried within 1-2 weeks of stopping the medicine.

I had a bottle of craft beer. It tasted less wonderful than I remembered. It was a Monday. I went to sleep and slept soundly.

On Tuesday I went to work and pushed through a few unproductive hours. By about 1 in the afternoon, I knew I wasn’t getting any work done. I told my boss I needed to go home. I think I said something about “mental health.” Something was eating at me.

I awoke just after midnight on Wednesday morning. I’m not sure what woke me, but it was jarring. I heard a vocal message loud and clear: “But what if? What if they’re wrong?”

So I got up. I went to the medicine cabinet. I took everything out. And I took the medicines I had discontinued two days earlier.

That day, I went back to work. I found myself wondering what on earth I was doing. Taking these medications with a blighted ovum (empty sac) would just postpone the inevitable miscarriage. And the physical miscarriage was necessary to move on.

I decided I needed a second opinion ultrasound. If it confirmed the blighted ovum, then I could truly stop the medications with confidence. I contacted my primary care doctor for the referral. She wouldn’t do it. I fought her reasoning tooth and nail. She eventually ordered it — and insurance refused to cover it. The ultrasound department refused to schedule it for anything sooner than two weeks out. But I knew I couldn’t take those medications for two weeks if I had a blighted ovum.

After many messages and phone calls, Wayne and I succeeded in getting me an appointment for that Friday. My blighted ovum was diagnosed at six weeks, one day. My second opinion ultrasound was scheduled for six weeks, five days.

Fast forward to Friday. The tech started the process for an abdominal ultrasound. “You won’t see anything,” I told her. “It has to be transvaginal.”

“I’ll do both. But this first,” she told me.

The wand passed over my pelvis. I saw the bean-shaped sac on the screen. And I saw something more. Something that looked a bit like a grain of rice.

“There’s something in there!” I gasped.

She quietly turned the screen away from my sight. “Let me look. I promise I’ll tell you what I see.”

She transitioned to the transvaginal ultrasound. After several tense minutes, she turned the screen toward me. “Do you see that flicker?” she said.



I started sobbing uncontrollably. Yes, I could see the flicker.

“Do you know that that is?”

Yes, yes, I know what it is.

It’s a heart.

“They wanted me to schedule a D&C this week,” I whispered.

“I’m awfully glad you said no,” she said. “He or she is measuring six weeks, three days. Congratulations.”

What We Miss When We Assume Someone Is Better Off Than Us

"You must have a mild case."

A beautiful friend of mine in the rare disease community shared recently that I come across as having a mild case of cystinosis. It’s not the first time I’ve heard this, and I tend to brush it off without rebuttal. I’m not one to try to convince others of my degree of sickness or health. After all, “Fight for your limitations and you get to keep them.” I focus on gains over losses, although I’ve had plenty of both. Usually I just respond with an abbreviated version of my story. But here’s a truthful account of it:

Dialysis was revealing.

I’ve been very fortunate. I was able to start cysteamine when I was 2 years old and it was still highly experimental. As a child, I went into end stage renal failure at age 14. I did 2 years of dialysis while attending high school, starting at age 16.

My feelings about dialysis were mixed then, and they’re still mixed now. I wanted dialysis rather than transplant because my academic success was so important to me and I didn’t want to interrupt it. In hindsight, that seems kind of silly - and yet, it was in my grades that I found my peace and motivation. (I see now that it should have been in my faith and in my loved ones where I found these things.)

I was stubborn, which isn’t exceptional for those growing up with unique health challenges. My dialysis doctor told me to expect to slow down. I got a part-time job. He told me my grades would slip. I increased my academic load. My school waved their truancy policy in my face. I raced out of surgery one morning so I could make it to my calculus class in time to take a test I was told I wouldn’t be able to make up. I aced the test and landed in the emergency room that evening, which was a trade-off that seemed more than fair in my immature mind.

And yet. I was a brat. And I’m sorry, the excuse “she doesn’t feel well” should never be used to allow for rudeness and surliness. When I wasn’t working, going to school, or having dialysis, I was either sleeping or being awful to loved ones. I was terrible to one of the dialysis nurses on a regular basis. I made it clear that I preferred someone else. I wouldn’t smile for photos. When my dad picked me up from dialysis I’d go silent and put the seat back, sometimes not even saying hello. I’m sure he thought I felt bad. I’m sure I did feel bad. But to not even say hello to the person who dutifully and lovingly picked me up after my treatments? I don’t recall having laryngitis. Come on.

If social media had existed, you may not have known I was on dialysis.

But had I been on Facebook in those days (thank goodness it wasn’t around), here’s what you would see: a high school student with a 4.5 GPA, a first violinist in the school orchestra, a part-time technician for five local elementary schools, someone who left post-op recovery rooms to make it to a silly calculus class on time... and someone whose dialysis catheter failed so many times that at one point she was having surgeries every other month or even every few weeks. You’d see my dialysis time increase from twice a week for 2 hours to three times a week for 3, 4, 5 hours… whatever was needed to get the job done with my poor flow rates. And all the while, you’d see my up my game.

But actually, this is unrealistic, because it’s unlikely I would have shared any dialysis news online. Not a single one of my friends at school knew.

But if you did know, perhaps you’d feel inspired. “She’s so sick,” you would think. “But it doesn’t stop her.”

But you’d be wrong.

Emulate character, not outward appearances.

It did stop me. It stopped me from being kind. And like I said, nothing can excuse a lack of human decency.

And being a do-it-all (and a know-it-all) isn’t worthy of emulation. Being a gentle and kind human being is.

Some who knew me during those years might say I’m being too hard on myself. I disagree, and I think it’s important for me to disagree in order to continue striving toward a more love-centered life. It doesn’t hurt my self-esteem to admit to these things or let them remain on my mind. I’ve asked for forgiveness and I know this isn’t a burden for me to carry. It’s a lesson for me to take to heart.

Dialysis was a hugely foundational part of my life during a critical time in my psychosocial development. And while it gave me so, so much — I honestly wouldn’t remove dialysis from my past even if I could — I would fight the making of a stubborn heart if I could go back and do things differently.

We're all living a lie — but that doesn't mean it's OK.

I just messaged my husband and told I was working on a blog post about appearances vs. reality, and he said, “In a way, aren’t we all living a lie?”

And we are. Social media has perhaps made this a more ubiquitous topic of discussion (“don’t compare your worst days to what you see on social media, because everyone’s just posting their best days”), but inauthentic living has existed since the dawn of man. And neither the person living her life nor the outsiders observing it is innocent: We all tend to determine someone’s wellbeing by factors that truly don’t matter, like high school GPA, marital status, and career position, among others.

But since I don’t see a social paradigm shift any time soon, we owe it to ourselves and our loved ones to live with honesty. That doesn’t mean taking all your beautiful moments off Facebook or Instagram. It doesn’t even mean adding the ugly moments. It doesn’t mean spilling your guts in a blog post that everyone can see. It means building authentic relationships based on love and truth. This, for me, is something I’m forever working on.

So let’s come full circle with this circumlocutory blog entry: You see my pictures on social media, often of my mountain hikes. You know I’m married and fully employed. You assume my cystinosis must be a mild case.

Is it? Here's what I know.

We’re all living a social media lie to a certain extent.

The things we value (marital status, career status, motherhood status) don’t tell the whole story and aren’t, in and of themselves, worthy of adoration.

I once simply shared with someone in the rare disease community that I was 36, married, and working full time - and his response was that he wanted his child to turn out “just like” me. Don’t do that. It perplexes me. Desire for your child to turn into a kindhearted adult who gives rather than receives. Who loves his neighbor as himself. Who has faith that can move mountains. Who is humble. The other stuff doesn’t matter and isn’t indicative of a healthy heart and soul. You know who I want to be just like? My sister. Because of her heart, not because of her worldly accomplishments. She's building up treasure in heaven.

One of the genes I inherited is considered indicative of the most severe type of cystinosis, according to a specialist researching genes and the cure. In truth, I don’t think researchers fully understand how mutation translates into experience as of yet.

I’m here by the grace of God, undeserved but fully given. I have had so many friends over the past three and a half decades whom God has called home. I am not more worthy. 

I’m still healing on a daily basis, even while my health declines. Healing is something that goes beyond physical health.

I have this glass of water. It’s not half full. It’s not half empty. It’s overflowing no matter what challenges come my way, because circumstances aren't what fill it. I don’t always live in a way that shows my gratitude for this. I’m not always grateful.

Happiness is designed to be fleeting. Joy puts down roots and isn’t based on circumstances.

In 2011 I was in pulmonary decline.

I collapsed during a June 2012 strenuous hike. Park rangers were called and had to give me oxygen and support me back down to the ranger station. Two months later, I returned for redemption. The hike took me 17 hours. Most guide books list it as 12, tops. I cried, but I finished, sans oxygen.

I've been helicopter-lifted off a mountain top when the nearest exit was 15 miles away.

My husband’s support is precious beyond words.

I will forever be the slowest person on the trail. This is why I don’t typically hike with people other than family: I hold people back.

I left teaching after nine years in the classroom due to a deterioration in my voice quality due to cystinosis. The job was my passion. A parent later told me the students respected my teaching, but mocked my voice on the playground. Ah... the joys of middle school. And yet for some reason, I loved reliving middle school on the other side of the desk. I stay in touch with some of my students and love seeing where life takes them.

I’ve found new passions. There are so many things to do in this world, and so many people only ever experience one career. I consider myself so blessed to have moved into the editorial field.

Most people don’t understand me over the phone. Some people will feel sorry for me over this. Don’t - I always prayed to be the kind of person who was “quick to listen, slow to speak, and slow to become angry.” Be careful what you pray for! While there are certainly frustrations, it’s another feature of my life that I wouldn’t remove for anything. The gifts this supposed “loss” has granted me are something to share another day.

Clouds Rest hike: I cried.

Mt Whitney hike: I cried.

Kilimanjaro hike: I cried. I lost my appetite and 15 pounds over the course of the 6-day trek. For the last 3 days, I didn’t urinate. My transplanted kidney survived in what I can only describe as a miracle.

I have fallen in love with God’s creation because of a pulmonary function test that drove me to the mountains. I feel so much more healthy, spiritually, then I did before the diagnosis. But I have a long, long, long way to go.

I love this life I've been given in ways I can't describe.

Degree doesn't matter.

In the end, I don’t know whether my cystinosis is “minor” or “major” according to the standards the world sets for physical health. I know that spiritual health is far more important, and I have a long way to go — but I've been blessed with significant challenges to help me get there. I pray to become more kind, not to become more physically healthy.

I've done it too.

So what do we miss when we let social media or societal criteria drive our assumptions? I do it too. And here's what I think I've missed:

A chance to learn someone's story. We're social people. You don't generally have to dig very far to hear someone's heart. There are so many people with complex illnesses that I've "read" based on the shallow things that I see. I'm dismissive. I'm the one who misses out.

A chance to find what's really worth emulating. When we assume someone is better off, we ignore how their lives have been built through challenges and how God has worked. In my experience, people's lives are rarely easy. When I dismiss hardship that may exist beneath the surface, I attribute their success to luck rather than any effort.

An opportunity to grow together. We all have flaws we don't show the world. When we put our assumptions aside and get to know someone, we allow ourselves the opportunity to lift them up and be lifted ourselves.

Reach out to someone you've typecast, labeled, or pigeonholed. I promise you'll be surprised.

When My Chronic Disorder Went From Being an Invisible Illness to a Visible One

When it comes to invisible illness, I had one for 30+ years of my life. I loved and embraced invisibility. I felt normal, and keeping my condition secret meant that I was treated as such.

In my early 30s, though, some things happened to make it visible. Due to cystinosis-related muscle wasting, I started to lose strength in my voice and enunciation in my words. So while you might not have guessed that I had a health problem if you saw me on the subway, you’d definitely realize it once you struck up a conversation.

The other area primarily affected by muscle wasting is my hands. My thenar eminence has lost all muscle, and while I still have grip strength (that comes from the forearms, mostly), activities that require a pinching motion have become near impossible. I took up rock climbing to build muscles to compensate.

At first I was hesitant, but I grew more OK with having a visible illness. It presented me with opportunities to share my story, which is one I tell pretty openly these days. And there’s healing in that.

But I then heard the perspective of a parent whose child has cystinosis. This parent had seen the hands of adults with the disease and was upset by it. It was very literally vocalized, “I don’t want my child to turn out like that.” And it got me thinking.

Maybe there are more important qualities than the status of our hands.

Maybe when we judge quality of life by appearances, we’re being ridiculous.

We think of all the things others surely can’t do because their disease appears to have robbed them of those abilities. And that’s weird to me, because I’ve gained more than I’ve lost. 

Maybe the folks we limit still feel limitless in the areas that matter.

Maybe some of my biggest role models in the rare disease community hold that status because of their kindness. Their work ethic. Their helpful attitude. Their wisdom. Their contentment.

While I don’t wish health problems on anyone, maybe it would be okay to “turn out like that.”

7 Things Someone Who's Had an Ectopic Pregnancy Probably Understands

Something I hinted at in an earlier post was that it was a tough month of April.

I hesitate to share things while I'm experiencing them for a variety of reasons, many of which are probably pretty common. We all are more inclined to share tough experiences once we're okay again, once we can say, "This was hard, but I'm better now."

This is probably all the more true with traditionally taboo subjects like failed pregnancies.

But as I went through the experience, I wished there were more stories from women who have been there. There are some. But you know the old saying, if you're not part of the solution, you're part of the problem? I want to be part of the solution for those who go through an ectopic pregnancy in the future.

So for what it's worth, I'm going to share some lessons I learned during this hard process. 

1. You could be on edge for months.

I received the bad news that my pregnancy was not viable, that the little embryo was in the wrong place in early April. 

And then, before I could properly grieve, I was told that my own life was in danger.

My ectopic was confirmed when my pregnancy hormone level was borderline for chemical treatment — so there was a mad rush to get me the medication (methotrexate) in an effort to avoid the surgery that would be required if that number got much higher. The doctors on my team estimated that had I waited just 24 more hours, I would have needed surgery and possibly lost a tube, an ovary, or both. (As it turns out, my ectopic was not tubal — but at the time, that wasn't known. It was a rare ovarian ectopic.)

I went home after my first methotrexate injection and patiently waited for painful resolution. I wondered if I should take a day off work. I expected it might take a couple days.

But methotrexate and ectopics don't work that way.

In fact, I was instead warned that I was still at risk for a rupture (which is a medical emergency), subsequent massive internal bleeding, and an urgent need for surgery. And a week later, my pregnancy hormone had only gone up, requiring a second shot of methotrexate. Two more blood tests in the week that followed revealed that the second shot was doing its job.

But it can take weeks or even months for methotrexate to "do its job." Your doctor will typically order weekly blood tests to see how your hormone is decreasing.

You may just want to be told that you're out of the woods. You likely won't be told that. For all of April and May, I was told that a rupture could still happen at any time, all the way until my hormone level is negative.

2. There is such thing as a "little bit" pregnant.

No, you're not pregnant with a viable life.

But your body does accept the pregnancy as legitimate, and this can be incredibly hard. You may have many symptoms of pregnancy, which actually serve as a constant reminder that you both are and you aren't: There's an embryo, but it can't survive. In my case, my body even took the step of creating what's known as a pseudo sac — a little home for the embryo in the uterus left permanently vacant — due to the belief that we were good to go. (Pseudo sacs are a phenomenon that occur in 10-20% of all ectopic pregnancies.)

My husband pointed out that my body was doing all the right things to promote a healthy pregnancy. I'm grateful to him for saying this.

3. Some things are unexplainable.

I'm a kidney transplant recipient. And in my case, I had a deceased donor. This means that someone died, his kidneys were removed from his body and transported by helicopter many miles, and several hours later (because I received the second kidney), the organ was placed in my body and somehow made to function.

As mind-boggling as that is to me, it's even more unfathomable to my small mind how this can be done with a beating heart.

Yet when you have an ectopic pregnancy, a healthy embryo cannot be moved less than two inches to a place in your own body where it can grow and thrive properly.

This is tragic and senseless to me.

4. Your grief might be delayed.

It took me several weeks before I could grieve. I had to feel "out of the woods" and let the world spinning beneath my feet slow down. Grief finally came when I listened to the Mercy Me song "Even If."

I had prayed so hard in those early days that my ectopic was a misdiagnosis (see below). It wasn't. We often pray for healing. But even if it doesn't come, God is still in control of my life. That song brought it all front and center — my baby had wanted to live. I had wanted it to live. I had prayed for it to live.

It couldn't live. It didn't live. It's a life that we lost.

5. You may doubt your diagnosis. 

This is huge, and if you're reading this with a suspected diagnosis of ectopic pregnancy but have not yet had methotrexate or surgery, PLEASE read on.

A 2002 study found that roughly 40 percent of all ectopics are misdiagnosed. 

Let that sink in.

Forty percent.

In my case, I had certainty. My ectopic was not confirmed with just one ultrasound at an early date, which is really where the dangerous ambiguity lies. Rather, I had multiple ultrasounds after six weeks. Before the first methotrexate injection alone, I had three ultrasounds evaluated by three different doctors at three different facilities at six and a half weeks. (This was not entirely intentional.) Between my first and second methotrexate injections, I had another ultrasound at what would have been nearly eight weeks, evaluated by yet another doctor. I had a final ultrasound at nearly ten weeks — you guessed it, evaluated by yet another doctor. ALL ultrasounds revealed a uterus devoid of a gestational sac at a time when I should have had not only a gestational sac, but a yolk sac, fetal heartbeat, and fetal pole as well. Meanwhile, there was clearly a structure in my left ovary, and my hormone rise indicated pregnancy.

It's easy to feel pressured to rush into treatment when you're told you have an ectopic. After all, you'll be reminded over and over that you're in the middle of a potentially life-threatening medical emergency.

But get confirmation.

And then get it again.

And if you need more opinions, get more opinions.

Misdiagnosis is not a small issue here. There are support groups devoted to women who were misdiagnosed with ectopic pregnancies and given methotrexate. Many of them subsequently miscarried what would have been healthy uterine pregnancies. Methotrexate is a folate-depleting agent, and the period of 6-10 weeks is precisely when your baby needs folate to develop a healthy spine. Among women who are mistakenly given a methotrexate injection but later receive news of a confirmed uterine pregnancy, birth defects (if the baby survives) are common.

Doubts and denial are two different things. If you have doubts in the face of an ectopic pregnancy diagnosed at five weeks, get another opinion at six weeks. If you are in denial of a true ectopic pregnancy, though, please try to work through that denial before you find yourself in a life-threatening situation.

6. Others aren't likely to understand.

I came to dread what people would say when I shared my experience, but the important thing to remember is that people's hearts are generally in the right place.

While going through the ectopic and sharing with trusted friends, it was hard to hear people compare it to a miscarriage experience. I found the emotions associated with my ectopic to be very different than those associated with my earlier miscarriage. (I'm not saying either was better or worse. They were different.)

However, the more time and space separates me from the experience, the more I realize that in a lot of ways, pregnancy loss is pregnancy loss.

7. Life will go on.

If you're in the middle of this and feeling discouraged, rest assured that you will have physical resolution with time. Try not to feel guilty if the impact on your heart is delayed, and then take the time you need to find emotional resolution as well.

Living Well With Cystinosis: Your Only Job is to Figure Out Your Next Step

We spent last week in Colorado, first in Telluride and then in the Breckenridge area. What a treasure trove of natural beauty and outdoor activities!

One of our planned activities was to do the Telluride Via Ferrata, a bucket list item of mine that I've wanted to do for a few years.

A via ferrata, which just translates as "iron way," is a route that would be impossible to complete (well, for most people—Alex Honnold types excluded) without certain manmade elements such as steel cables, fixed anchors, ladders, and the like. Via ferratas were originally created in Europe, particularly in the Alps, to aid in the movement of troops during World War I.

Now, though, they are primarily done for fun.

We went on July 4th, which ended up being a good choice due to the Telluride parade serving as a deterrent for those who might otherwise traverse the rock face that day. We had the route mainly to ourselves, save a couple of guided groups. (We opted to go without a guide.)

A couple and their guide were directly behind us for the "Main Event," the name given to the most exposed section of the route (although there were plenty of other "high-consequence" areas, as we would find).

The woman was terrified at this section. I could tell from her tone of voice that it was not going to happen and that they would end up turning back. Nevertheless, their guide (undoubtedly paid a hefty sum and wanting to do due diligence) did his best to convince her to do the traverse.

"You only have to think about one thing," he told her. "Just one: where to put your feet and hands next. That is your one job. You don't need to think about anything else."

Ultimately, she didn't go.

But her guide was right. As I stepped out seemingly into thin air high above the valley floor, I thought only of my next step.

The Main Event

I remained near-sighted as I looked down to step on each narrow bolted rung, not allowing my eyes to focus on the valley far below.

I looked up only to see where my hands had to reach next, sometimes to a place where my four-foot-eleven-inch frame didn't seem likely to stretch.

When I wasn't looking up or down, I focused straight ahead to the rock face in front of me, sure and steady as long as I didn't linger.

And when the foot holds briefly disappeared and I had to rely on my arms and slick soles directly on the rock face to move myself to a place of relative safety, I thought not of my upper body weakness but only of that next step. (OK, so I also said a prayer.)

The Main Event (Closer Up)

When I completed the Main Event (and after I had gone BACK out so Wayne could take a photo), I felt overwhelmed. I looked back at the 300-foot stretch. I looked down to the valley below. And I wanted to cry out in fear. But I knew there was no sense in it: It was done.

Obviously, the life lesson here is a little cliche, but cliches are sometimes made more meaningful by real analogies. We've all heard the adage "The journey of a thousand miles begins with a single step." It's a nice thing to tell someone who is facing an overwhelming challenge, but it's still typically a pretty difficult concept to grasp and put into practice.

Now that I have this via ferrata to remember, I can honestly understand a little better how to apply the wisdom of it.

Take, for example, the rare disease journey. In the cystinosis community, we're often given lifespan estimates (why, I have no idea) and future organ failure predictions and news of troubles ahead.

Now close your eyes and shut all that stuff out.

Be near-sighted for a moment. (This isn't my advice in every endeavor, mind you.)

What is your next step in this particular journey? Where is the best place to put your feet, your hands, your mind next? Maybe you have a decision to make, or maybe that step is routine. Either way, taking your best step next will ensure that you're doing all you can to live the healthiest future, without all the worry that comes with thinking about it now.

Well, look at the time. My next step is to take my 8 a.m. medications. That's my only job on this cystinosis journey right now.

You can do it.

Living Well With Cystinosis: Shouldering New Challenges

I ask not for a lighter burden, but for broader shoulders.
— Jewish Proverb

Something you might not realize if you haven't hiked or snowshoed in late spring/summer snow is that it can be terribly hot. Obviously, the snow itself is cold, but vast quantities of snow cover provide the perfect reflective surface for the sun. On a cloudless day, the sun not only beats down on you from above but also bounces off the snow and hits you from below.


I experienced a perfect storm of difficult conditions during a mid-June hike: hot sun, large expanses of soft snow (which requires lifting the feet higher to walk through), high elevation (nearly 10,000 feet), and an uphill grade. I also carried a pack with my DSLR and a large, clunky, wide-angle lens. That's pretty much all my pack had in it.

But let me back up for a second.

Almost a year ago, I hiked for 22 hours straight with a light pack on my back. But for the next three months, I had significant shoulder, neck, and upper back pain and was unable to bear much weight. However, something worth noting is that at no point during the hike itself did I feel like my pack was a burden.

During this past weekend's hike, things were different. I felt shoulder and upper back pain and weakness throughout the hike.

That's really the word I'd use to describe what I felt: weakness.

At one point I raised my hands over my head and reached for a tree branch to stretch my shoulders thinking they just needed a little warm-up.

But that wasn't it. The shoulder weakness persisted, and despite the addition of the heat and the snow and the grade, I knew this was not my normal.

The shoulders are a known problem area for people with cystinosis. What this trek made evident is that I need to work on this area in particular.

So I've been looking at some exercises and am planning to increase my rock climbing activities.

Life is a marathon, never a sprint. I am grateful for the changes that remind me to keep training against beautiful backdrops that I'd otherwise never experience. I was destined to be a couch potato, y'all — cystinosis turned me into an athlete.


Hello, May

Hello, May.

Hello, flowers that April showers have promised us.

A little bit of floral sunshine.

Hello to a season of patience and waiting — kids are anticipating the end of school, families are anticipating family vacations, and we're all anticipating unbroken sunshine for days.

And me? In this season of anticipating what's to come, I'm trying to patiently await resolution. April had showers. Oh, so many showers. Showers that watered my soul to be certain. And showers that also drowned a dream.

And at the end of the day, a watered soul is so much more important than a drowned dream. Immeasurably more important. And something I've long asked for. I'm endlessly grateful for April.

So I'm reminding myself that May and June are my favorite months (due to the length of the days and temperatures that are warm, but not sweltering), and that the flowers will bloom.

California poppies never cease to captivate me.

California poppies never cease to captivate me.

Why This May Just Be The Best Pill Organizer Ever

Let me start by saying that I'm not much of the pill organizer type.

I don't tend to forget to take medication—it's routine. I've downloaded trendy pill reminder apps with beautiful graphics, but I've always ended up abandoning them, because they aren't needed and end up just being another phone notification to dismiss. And when it comes to pill organizers, they tend to feel like a waste of time; I'm supposed to transfer my pills from their prescription containers to another container before taking? Why the extra step?

But this Walgreens-brand pill organizer makes sense for my lifestyle. Let me share with you some of the features that convinced me that an extra step can be worthwhile.

1. It fits 124 doses of medication.

Each removable day contains four roomy compartments: morning (breakfast), noon (lunch), evening (supper), and night (bedtime). The whole organizer allows you to portion out a month's worth of medicine.

2. It's a calendar.

As you complete each day, you can flip the individual organizer to indicate that the day is through. It's like having an old-school calendar and crossing off the days, and it's as satisfying as checking off items on a to-do list.

3. It travels well.

This one is so important to me. As someone who frequently takes day trips to the mountains or overnight backpacking trips, I need something convenient for travel. Also, I typically remove my daily doses from their bottles to travel anyway in order to have less bulk to pack. With this system, I can grab the individual organizers corresponding to the days of my travel (and an extra day or two in case of road closures or other delays in returning) and be on my way.

One word of caution

Medications that come in opaque bottles and have short expiration dates (less than a year) should probably be kept out of long-term organizers such as this one. I would not want to put a sun-sensitive medication in a clear compartment for so many days. For medicines like that, I recommend keeping them in their original bottle. 


Every Burden Is A Blessing

"When you saw the return address on the envelope, you probably didn't even want to open it."

This is how the judge welcomed us—75 people (including myself) who had entered the room silently a few minutes earlier—into his courtroom. He told us that he understood, that even he was called for jury duty on occasion, and that he had waited in that exact waiting room, had sat in this very courtroom.

In actuality, I didn't really dread opening the letter from the Superior Court. I figured I'd call the number given on my juror form the night before and learn via the automated system that I didn't need to come in. At worst, I thought maybe I'd have to appear in person to wait for several hours to be dismissed—but at least there would be free WiFi.

I waited several hours all right (and there was free WiFi), but the dismissal never came. Much to my horror, my name was called to report to Courtroom 17.

I won't bore you with the details. Suffice to say, it's a long trial (estimated to last until February 10th) and I think the lawyers and judge are working on putting together a jury all week. This is good news, because as the pool gets larger my odds will get slimmer—but for now, I'm still being considered a potential juror. Of the 75 people who entered Courtroom 17 after hearing their names, only about 20 (myself included) ended up admitting that they didn't have a hardship significant enough to prevent them from serving. Twenty of us. And 16 will be selected for the jury. You'd better believe I'm hoping the pool gets larger over the next few days before I have to report back to Courtroom 17 on Monday!

I came home after turning in my juror questionnaire somewhat bitter. I decided to get some laundry done while working remotely for the rest of the day. I lamented how much laundry there was to do. How can two people go through so many clothes so quickly?

Making a place for myself at the dining room table to work, I noticed the fortune cookie and decided its taste would match how I felt (mediocre at best), so why not? I found this gem:

Every burden is a blessing. 

Gulp. This rings true.

While in Courtroom 17, I found incredible inspiration from a story the judge told to motivate us. He and his wife are international travelers, and in their travels, he always tries to check out the local court system. He shared that it never ceases to amaze him how few countries have trial by jury.

"Even in countries where you might expect otherwise," he said, "you'll often find that an appointed official is making decisions related to guilt, innocence, and punishment. I'm grateful I don't have that power, because if I ever got into trouble, I'd sure want to know that a jury of my peers would be hearing me out."

He made me feel proud to be an American, proud to be under the Constitution, proud that our Bill of Rights guarantees our right to a trial by jury. When he announced the expected duration of the trial at hand, all this pride slipped away into lamentation. The fortune cookie shook me back to my senses.

What a blessing it is to live in this country and have such rights. My burden is not only someone else's blessing, it is actually my own as well. It is all of ours. At a time when it is popular to criticize our country right and left, I am proud to be an American.

And the endless stream of laundry I complain about? How incredibly selfish. How incredibly blessed we are that we have enough clothes to go more than a day (or even several) without needing to wash.

I think perhaps the fortune is meant to be read differently than this; the way it reads, it may actually be saying that burdens make us stronger, and in that sense, bless us. I get that. That's true, too. But today I'm humbled by the things I have no right to find burdensome—the things that are blessings first and foremost.


#rarediseasejournalingchallenge Day 15

"Great books help you understand, and they help you feel understood." (John Green)

What books have inspired you on your journey? Encouraged you? Helped you cope?

Make a list of 10, go in depth about 1, or do anything in between.

#rarediseasejournalingchallenge Day 13

We are social beings, designed to connect. We all bring complex issues to the table in our relationships, and a lifelong condition can be a big complicating factor. It is this factor that inspires today's prompt.

There are so many types of relationships to be touched on here. There are friendships, romantic partnerships, sibling relationships, patient/doctor trust, and more.

When I was a child, it was my desire that none of my peers at school know of my rare condition; my parents honored this request (for which I owe them a deep debt of gratitude). I do believe this was best for me in elementary and middle school and also jived well with the place I personally gave cystinosis in my mind (i.e., not a prominent one).

In the summer between my sophomore and junior year of high school, it became evident that my kidneys were failing rapidly and dialysis was imminent. Still, none of my friends knew of my situation. This helped me to feel more like myself (a person who wanted neither sympathy nor excuses) and gain confidence in areas independent of my declining health. It was satisfying to achieve without the weight of being told how remarkable it was for me to do so “despite being sick.” I was a normal straight-A student… in spite of nothing.

But it’s undeniable that my last two years of high school were isolating. Dialysis became a huge part of my life, though I always used my love of academics to ground me (no matter how huge dialysis became, I managed to make calculus more so—it sounds ridiculous now, doesn’t it?). But here was this major thing that I wasn’t talking about, and that took a toll. It was almost like I was living a double life, though at the time it felt entirely natural to me and wasn’t entirely disingenuous. Three times a week, for 3-4 hours each session, I was at the hospital for dialysis. I remember feeling sick after dialysis, sleeping 12+ hours per night, and being worn out on weekends, but I always felt great at school by very nature of being at school, focused on my love for learning and achieving.

But hindsight is 20/20, and I realize that while my academic achievements multiplied in the face of health challenges, my social connections severed, shattered, untied… in sum, at school I had none. I had casual friendships, people to sit with at lunch and partner with during group work if the teacher told us to find a partner. But the thing that took up most of my time outside of school was taboo, and I withdrew into my head and my textbooks without even realizing that I missed the deep, close friendships I had had when I was younger.

On the flip side, church was a pretty safe place because no one in my youth group attended my particular public high school. I don’t remember a time when people at church didn’t know about cystinosis or a time when I hesitated to tell them. In stark contrast to my high school life, I just didn’t care. So while it rarely came up, it wasn’t something that I went out of my way to hide.

So to transition from friendship to a romantic relationship—perhaps it should come as no surprise that my high school sweetheart (now my husband) was in fact not part of my high school at all, but part of my church. Dialysis and cystinosis weren’t things I hid from him.

But—and here’s the thing that often defines how able I am to get close to others in a post-dialysis world—

He didn’t care.

It didn’t change how he saw me, and it wasn’t something he needed to dwell on or expected me to dwell on.

He didn’t care, but he was there exactly how I needed someone to be. He wasn’t there to ask me how I felt, or what cystinosis was, or how dialysis went on a particular day. He was there to help me carry on as the normal person that I was, only without the burden of hiding where I went on Monday, Wednesday, and Friday afternoons.

You guys, our first conversation about dialysis went something like this:

Me: I go to dialysis three times a week. It’s where a machine plays the role of kidney.

Wayne: Sounds interesting. And boring. What do you do?

Me: Well, there’s a guy on dialysis who usually has about an hour left when I arrive. He watches Pinky and the Brain and Animaniacs. When he leaves I get the remote, but I just turn off the TV because there’s nothing good on.

Wayne: Is there a VCR?

Me: I think so.

Wayne: Have you ever seen Romancing the Stone?

And just like that, the conversation shifted to the great tragedy that was my failure to see this movie. And, as you may be able to predict, the followthrough was that, to the surprise of myself, my family, and the dialysis nurses, an uncomfortable chair with a hard back was brought in and placed next to my plush hospital recliner at dialysis the next Wednesday, and a blue-eyed boy brought in a VHS to share with a brown-eyed girl whose condition mattered not. All that mattered was that the Ambulatory Care Unit had a VCR and, thankfully, Pinky and the Brain was over.

Fast forward nearly 20 years and he is still the love of my life and cystinosis still takes a back burner to almost everything, but it’s something I can talk about freely with the man who shows up.

For those of us who had a childhood and adolescence before Facebook, it can start to feel unnatural if we let it. I feel like social media has created this weird dynamic where even if I have nothing cystinosis-related at the forefront of my mind, I can log in to Facebook and find someone who does and therefore think about cystinosis 24/7 if I so desire. It’s a fine line to walk, because I care deeply about friends and strangers in the cystinosis community—so I want to know their burdens, their hurts, and their current struggles so I can pray. We are bonded by this disease, and when I talk about how cystinosis enhances my relationships, something that must be brought up is the incredible community I’ve been blessed to be a part of.

And yet.

It’s been an unnatural departure at times from who I am, which is someone unaccustomed to giving cystinosis so much consideration. And I think contemplating cystinosis so often throughout my day is also a departure from the person my husband married. Early in our marriage, we attended four or five cystinosis events in the span of maybe two years. He joined cystinosis Facebook groups and read post after post. I did too.

But it wasn’t us, and it felt bizarre over time, like we were blowing a small thing out of proportion. (I know that not everyone will share this "small thing" perspective, and that's OK.) No matter how much it hurts to let go—and it does hurt, because I have a big heart and lots of love for my cystinosis family—I've learned the importance of healthier boundaries through my initial deep dive into a condition I prefer to leave at the periphery. 

How I connect with others in the cystinosis community in general is complicated. You might think that because we have so much in common, it's easier. But it's not. We don't necessarily have the things in common that you might expect. It's harder for me, and perhaps that is a result of my inability to make cystinosis a focus. On the other hand, there is no denying that a couple of my close friends come from this community. I'd like to think we'd be friends even if cystinosis weren't a factor, but cystinosis brought us together and is something I can confide in these friends about, and I cherish that.

Relationships involve balance—finding it, shifting it, losing it to learn and grow, refinding it. I am thankful for the strong ones I have in my life despite myself. We are all in this life together and it is all worth the effort.