Twins and Cystinosis: Taking Rare Up A Notch

What is it about twins that’s so darn fascinating?

We idolize them when they’re famous (ahem, Mary-Kate and Ashley), and we envy them when we’re young (I know I’m not the only one who dreamed of having an identical partner-in-crime!). Some women even stick to conception-friendly diets said to increase their chances of having adorable little duos.

Of all that there is to being a twin or wanting twins, cystinosis is probably not part of the equation. But, for twins, Jana and Sara Healy, that’s exactly what happened. Click here to read their incredible story.

Cystinosis is a rare disease that is typically diagnosed prior to age 2. Cystinosis is a genetic metabolic disease that causes an amino acid, cystine, to accumulate in various organs of the body. Cystine crystals typically accumulate in the:

  • kidneys,
  • eyes,
  • liver,
  • muscles,
  • pancreas,
  • brain,
  • and white blood cells.

Without specific treatment, children with cystinosis develop end-stage kidney failure at approximately age nine.

What’s the rare disease dilemma?

Doctors are taught, “When you hear the sound of hooves, think horses, not zebras.” In medicine, the term “zebra” is used in reference to a rare disease or condition. Doctors are taught to assume the simplest explanation is usually correct to avoid patients being misdiagnosed with rare illnesses.

Doctors learn to expect common conditions. But, it seems some medical professionals can forget that “zebras” do exist. So, getting a diagnosis and treatment can be more difficult for people with rare conditions.

From the exhaustion of a diagnosis journey to the feeling of being alone, those with rare diagnoses and their families face a lot of unique challenges that may be difficult for others to understand. That’s what makes Jana and Sara’s story so inspiring! Make sure you click.


What has been your journey to diagnosis with cystinosis? Post in the comments below.

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