Name: Rin

Parents: Atsuko and Shinichi

Siblings: Ann

Year of birth: 2018

Hometown & Country: Tokyo, Japan

After a smooth pregnancy, Rin was born full-term. Our initial concern was that our baby consumed little milk and would not open her eyes. Five days after her birth, Rin was taken to a hospital and diagnosed with diagraphic eventration, duodenal stenosis, intestinal malrotation as well as hypoplasia of the corpus callosum and absence of left kidney. She underwent surgery, and at that time we were told that our baby was likely totally blind. A few months later, Rin was diagnosed with microphthalmia and reticulochoroidal coloboma.

Although she was born at an average size, her weight and height fell below the growth curve because she could not consume enough milk. Several developmental milestones, such as rolling over, did not occur. After a year, we found out that this was all due to RARB gene mutations, of which Rin is the first case in Japan, according to the doctor.

Our daughter has now started to utter some words, and she is very smiley and expressive. Although she cannot see, she has some ability to detect light.

As Rin is unable to sit up nor stand up, she is going through physical therapy. Also, since she can only eat food pastes, she is undergoing dysphagia rehabilitation.

We hope that MCOPS12 will become widely known to the public and that there will be advances in MCOPS12-related research.