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.