Rothany's Story

Rothany is now age 11 and came into our world on the evening of August 8, 1997. It was a difficult delivery with her cord extending only a few inches out of the womb. She was small and frail weighing only 5lbs 2oz. Rothany was born with an imperforatei anus. She spent her first five days in the NICU due to a nurse thinking they had heard a heart murmur. She was three days old before her mother, Thida, got to see or hold her due to Thida’s own complications during the delivery. Everybody went home healthy on August 13th.

Julien Rothany’s imperforate anus was repaired when she was a month old by enlarging the opening. Everything else seemed normal until about the age of five months. We noticed that the left leg appeared to be slightly shorter than the right one. We had her checked by the doctor and upon doing the x-ray; we dis- covered that at some point after she was born, she had dislocated her hip. The femur had moved up on her hip bone and was forming a hip socket higher than normal. She had hip surgery around six months of age. On a follow-up at about eight months old, we found that the hip had come out of socket again. She had another hip surgery and spent the next four months in a body cast from her toes to her armpits. She got out of the cast on her first birthday.

While Rothany was in the body cast, to show excitement, Rothany would tense her body and wiggle her fingers vigorously. She also developed touch sensitivity to her hands. No one or nothing was allowed to touch her hands unless she initiated the contact. If you touched her hands, she would pull them away very quickly. On her first birthday, she touched the birthday cake, and then cried very loudly because the icing was still on her hands.

Rothany started walking around age two, and also started saying her first words. Rothany is half Cambodian and half American. We thought her speech was a little delayed due to her hearing and learning multiple languages. At age three, she took an immense interest in American auto racing called NASCAR. She would watch the race and then say the numbers as they scrolled across the screen. She quickly learned the driver’s names, cars, and even sponsors associated with the numbers. One day, a driver was on the television with just his name on the screen, and he wasn’t in his uniform. This wasn’t a well known driver. Rothany walked by the television, saw him,and then said who it was. Thida was surprised at this and asked me how she knew who that was. I told Thida that Rothany could read the driver’s names. Thida didn’t believe me, so I wrote down about thirty drivers’s names and gave them to Rothany. Even in my handwriting, Rothany read all but two. At one time, Rothany knew more details about NASCAR than most regular fans. At age six or seven, Rothany developed a love of country music. As with NASCAR, she learned more than the average person. This has continued on so far. With most country songs that she hears, she can tell you the title and the artist. On some, she can tell you which album it came from and even the year it was made.

As Rothany has grown, she has not grown as most typical children have. As her teeth came in, we noticed she did not have all of them, and some were misshaped. At age four, she had a bad cavity. She had to be put under anesthesia while getting that tooth fixed and others capped. The dentist took x-rays and told us that those missing teeth also didn’t have the buds for the adult teeth. As of today at age 11, her two top front teeth are slightly oversized. She is missing her top outside incisorsi and still has a couple baby teeth on bottom because there is nothing below to push them out. The dentist says that we will start talking about options in the near future.

Rothany has very weak joints. She does not have a lot of strength in her arms, hands, or legs. With her left knee, she can stand upright and without touching her knee cap, she can tighten her leg muscle and pull the kneecap to the side of her knee. It has always been a fun trick of hers to show people. Her orthopedic surgeon also has fun having new doctors and nurses come see her do the “knee trick”. Some cringe, some leave the room stunned.

At age nine, Rothany was seen by a connective tissuei specialist at Children’s Hospital in Cincinnati, Ohio. He suspected Kabuki Syndrome, but referred us to the Human Genetics Specialist, Dr. Howard Saal. Between the appointments, I went online researching KS, and then knew that KS was going to be the right diagnosis. Upon meeting with Dr. Saal, he confirmed the Kabuki Syndrome diagnosis.

Julien_2Rothany fit so many of the KS symptoms that many other anomalies with her started to make sense. Facially, she has the long palpebral fissuresi, arched eyebrows with sparse outer half, long thick eyelashes, high arched palate, missing and misshaped teeth. Physically, she has joint laxity, hip and knee dislocations, finger fetal pads, short fifth fingers, poor fine and gross motor skills, and had the imperforate anus. Intellectually, she has some slow learning, but also had a great memory for details of things that interest her. She prefers a routine to her activities. She had a tactile defensiveness when she was younger, but appears to have outgrown it. She also has an oral fixation, always putting clothes, pillows, or stuffed animals in her mouth. She is very selective in the foods that she will eat. She self stimulates by flapping of hands, wiggling of fingers, and/or tensing of her body. Rothany also has poor social skills, and doesn’t socialize with many other children. Many children shy away from her because of her self-stimulations.

While looking into KS, I also came to believe that Rothany’s mother fit many of the characteristics of KS. She also has had missing and misshaped teeth, short fifth finger, learning disabilities, imperforate anus, and hearing loss. While we do not have a diagnosis on Thida, I believe she has KS, but to a lesser degree than Rothany.

Rothany has received OT/PT through the hospital. Rothany currently receives speech and physical therapy in school. Her school grades are adjusted to her ability. Her hearing is being watched due to the family history, but no signs of hearing loss have been detected.

Overall Rothany is a healthy, happy, beautiful young lady. She has an older sister Seika, age 20, and a younger brother Weldon, age 5, that she loves to play with. She enjoys playing on the Wii video games. She loves her NASCAR and country music. We believe that she will be able to attain the ability to live independently, but will probably need guidance in doing so. Regardless of the future for Rothany, we are very fortunate to have her as our daughter.