Jiang Mengyuan

Siblings Jiajia and Enen suffered the same uncommon disease. Their mom Ms. Jia had written many articles to record their life.

Jiajia, 12, was the big brother, and the little sister Enen was four years younger. Both had Leber congenital amaurosis, also called LCA.

LCA is an eye disease caused by a genetic disorder, which explains why both children had the disease. Typical genetic patterns predict that if both parents carry the LCA gene, there is a 25 percent chance their children will have LCA. Jiajia’s symptoms were apparent within three months after his birth, characterized by the lack of visual reaction and a soft, weak neck. The doctor observed that Jiajia had brain dysplasia, a condition that is associated with low intelligence and weak visual capacity. He was thought to have cortical blindness. For four years, his parents took Jiajia all around the country to find out what exactly caused his ailment, but no one thought of a genetic disorder.

It was not until the birth of Enen that they had some clue. Ms. Jia was told seven days after the birth of Enen that her daughter couldn’t track colorful items with her eyes like a normal child would. Ten days after her birth, her parents recognized other symptoms her elder brother also suffered. A few months later, the Jias finally got the LCA diagnosis.

Up until then, Jiajia had received treatment for what doctors believed was cortical blindness, a condition that comes with brain malfunction. It turned out that his and his sister’s visual problems were rooted in their genes. Jiajia’s misdiagnosis was also caused by the factor of his brain damage. LCA in general doesn’t lead to brain impairment, which made Jiajia’s case special.

There are some treatment options for this diagnosis, but there is no cure. It should have been devastating to the family that both children, afflicted with this condition, would never regain their eyesight. Somehow, the Jias seemed to have handled their plight amazingly well. Ms. Jia blogged about the experience and treatment of their son for years to remind herself how strong they were, and her husband gave more attention to his family and worked hard to support them.

Looking at their photographs alone, I could not recognize any sign of blindness or mental problems.

Without Enen’s symptoms, Jiajia’s diagnosis might not have come easily. Rare as LCA may be, 13 kinds of LCA have been reported. Because Jiajia demonstrated both visual and mental impairment, there were other potential diagnoses outside the spectrum of LCA diagnoses.

Years after her birth, Enen also began to show signs of brain damage like her brother, but even worse. While Jiajia learned to walk at around 5, Enen at 8 still could not walk. For seven years, she has been receiving physical therapy to strengthen her muscles, but she remains wheelchair-bound. With similar symptoms seen in the brother and sister pair, it became clear that the same problematic gene was to blame. The kind of LCA caused by the mutation of cep290 comes with a 15 percent chance of brain damage. Although the diagnosed condition has no clear cure, it was a relief for the family to finally know the reason behind their ill fate.

Jia said that she is grateful that the government has been providing financial support for the physical rehabilitation treatment prescribed for Jiajia and Enen, which has covered most of the costs.

However, limited research for drugs that provide relief or even cures for uncommon diseases is a common factor that affects the prognosis of most patients.