Mijke is an 8-month-old baby born in Bloemfontein with a rare disease. She has surprised her family and the doctors by surviving the Treacher Collins Syndrome.
Her 30-year-old Mother Cindy Kotze gave birth to Mijke in May 2015 and soon after, she learned that her child had Treacher Collins syndrome, a condition that affects the development of bones and other tissues of the face.
Treacher Collins Syndrome
Treacher Collins Syndrome is a rare disease that affects 1 in every 50,000 people. It affects the development of the bones around the face. People with Treacher Collins syndrome often have eyes that slant downwards, scanty eyelashes, and an incision in the lower eyelids called an eyelid coloboma.
Some of the affected individuals have additional eye abnormalities that may lead to loss of sight. This condition also has other characteristics like absent, small, or unusually formed ears. Hearing loss may occur in about half of all affected individuals. Hearing loss is caused by deformity in the three small bones in the middle ear, which is supposed to transmit sound, or by underdevelopment of the ear canal due to Treacher Collins Syndrome.
However, people with Treacher Collins syndrome usually have normal intelligence unlike Down Syndrome. The signs and symptoms of this disorder vary greatly, and they range from almost unnoticeable to severe. Most affected people have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia) which gives their faces a weird shape.
Some people with this condition are also born with an opening in the roof of the mouth called a cleft palate. In some extreme cases, underdevelopment of the facial bones may restrict the airway of an affected infant thereby causing potentially life-threatening respiratory problems. This was why the doctors were sceptical about Mijke’s survival.
Doctors warned Kotze that her baby Mijke might not survive her first 24 hours. However, she defied all odds and spent 111 days in the neonatal intensive care unit of the Life Rose Park Hospital in Bloemfontein.
“She is a miracle baby, she made it despite what the doctor said,” Kotze said.
“While I was lying on my bed in hospital, I kept thinking that the doctor might soon come and tell me that my baby had died, but she survived and we can only thank God,” she said.
“I waited more than a month before I was allowed to hold her in my arms. I was scared that if I held her, I would hurt her,” Kotze said.
Mijke can only be fed through a special machine for now. The feeding machine and tubes which cost R3 000 per month are being paid for by an anonymous sponsor. “Mijke refluxes during and after feeds. She also can’t suck or swallow food, and also doesn’t have the ability to take a bottle. Her ears are not fully functional. Her inner ear has formed, but she does not have ear canals”.
“It is impossible at this stage to know how much she hears. She wears a hearing aid and will need implantation done by the age of 4,” said Kotze, she added that Mijke’s hearing implantation operation would cost R220 000.
Soon after Mijke was released from hospital, Kotze had to quit her job to allow her look after the child full time. “It is very stressful because you need to stay awake at all times and I have to attend to her as quickly as possible.” Kotze said her other two children, aged 10 and 5, had been helpful with little Mijke.
Mijke is expected to undergo an operation next month to help the reflux and repair her cleft palate.