He’d Rather Not be One-in-a-Million

When Hagan’s mom tells the 12-month-old Irish boy that he’s one in a million, she isn’t kidding–and it’s not exactly a compliment, either.

Those odds refer to the fact that Hagan has cystinosis. And, to explain the statistic, there is literally only one chance in a million that both parents will carry the defective gene and pass it on to their offspring.

In fact, Hagen is one of only eight children in Ireland who have cystinosis, a rare genetic disease that causes the amino acid cystine to accumulate and crystallize in various organs.

Cystinosis infographic
Excess cystine can form crystals that build up and cause problems to the kidneys, eyes, muscles, pancreas, thyroid and testes.
Source: http://www.cystaran.com


Untreated, most patients will suffer end-stage renal failure before their 10th birthday. Muscle wasting, diabetes, and difficulty swallowing are other symptoms.

It is thought that approximately 2,000 people globally suffer from cystinosis, but that number could be greatly underestimated because patients are frequently misdiagnosed.

Hagan’s mother Donna described what it is like taking care of an infant with the disease, and how she and her husband carefully keep track of his treatment medications on a white board in his room. Lately, Hagan has been doing better, and Donna is grateful that she can take him out for a short time in the mornings because he loves being outside.

While some medications can slow the progression, there is no cure at this time. In the United States, the Food and Drug Administration (FDA) has approved two drugs to treat the symptoms of cystinosis: Cystagon and Procysbi. Pharma companies offer financial assistance to eligible patients.

Rare Disease Caption with Red Microscope
Source: http://cached.imagescaler.hbpl.co.uk


Donna has since launched a fundraising campaign through an organization called Cystinosis Ireland that has raised more than $1.5 million (USD). Cystinosis Ireland is comprised of 10 people who are raising money in the hope that a cure can be found for their own children.

To learn about research being conducted in the US, click here. The Cystinosis Research Foundation provides links to a host of resources for families who are navigating the waters of this rare disease.

Erica Zahn

Erica Zahn

Erica Zahn is passionate about raising awareness of rare diseases and disorders and helping people connect with the resources that may ease their journey. Erica has been a caregiver, and is a patient, herself, so she completely relates to the rare disease community--on a deeply personal level.

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