Editor’s note:

A teenage girl from Shenzhen lost her brother to a rare disease, which prompted her to start a project interviewing and writing down stories of other rare disease patients. We publish the stories here to raise awareness of rare diseases, and hopefully, more people will be inspired to help.

Jiang Mengyuan

XUANXUAN was Jing’s youngest son and a patient who suffered central core disease, also called CCD. CCD weakens one’s control of skeletal muscles. The boy could barely control the muscles below his waist, an affliction that inhibited standing and crawling. The lack of muscle movement led to bone distortion and muscular atrophy.

The consoling part out of all of this was the fact that the conditions of his muscular disorder might not get any worse.

The first symptom Xuanxuan demonstrated was his unusual inactivity.

When Xuanxuan was 6 months old, he was brought in to the hospital. Because CCD is a very rare disease, the doctor could not make the diagnosis at first, thinking cerebral palsy was the possible cause. This error led to mismatched treatments that did not solve his problems.

At 9, the boy decided that he wanted to go to school, three years later than a normal kid.

Although government policies have allowed children with disabilities to attend normal schools, one of the family members was required to go with him to help him with chores on campus.

With no medication equivalent to no cure for the disease — a very painful physical therapy was the only treatment for the boy.

Most rare disease patients are faced with the same problems of no medication and no research to improve available medications. By their quality of being rare, uncommon diseases mean fewer cases, and therefore fewer people need the medication. Investment in the research and the production of such a medication renders fewer profits than those for more widespread ailments.

The result is that less money is funneled into curative options for these uncommon diseases, leaving patients in despair.

Xuanxuan had the clearest logic in his thinking among the patients I interviewed over the summer last year. He shared his interests and hobbies in a proud way that often entertained grownups.

Just as his concerned mother told me early in our visit, his difference might make people view him differently, even uncomfortably, especially as he grew older.

Xuanxuan and the other patients I visited are evidence of the worldwide problem we face in diagnosing and treating uncommon diseases. The problem is rooted in a system that favors pouring money into research of widespread illnesses, leaving as many as 400 million patients with uncommon diseases suffering without hope.

There is a clear moral imperative to change this reality, but as with anything, doing the right thing will require enormous financial commitment and the devotion of countless researchers to this noble cause.