A brief glance at Kabuki Syndrome :
Kabuki Syndrome is a rare, genetic disorder which occurs somewhere between 1 in every 10,000 to 32,000 births. In 1968 Dr Yoshikazu Kuroki and colleagues examined a boy in Fukuoka in the southern part of Japan, with a unique set of malformations that did not fit into known syndromes. Ten years later another child with similar characteristics was examined in Kanagawa, followed with three others in the ensuing two years. At the same time in 1967 Dr Norio Niikawa and colleagues discovered a female infant with an unusual set of characteristics that, again, did not fit into known syndromes. They found four other individuals from Hokkaido, an island north of Japan. In 1981 the combined findings of these individuals were presented as a new malformation and the name "Kabuki Make-Up" was selected because of the facial resemblance to the makeup of actors in Kabuki - traditional Japanese theatre. The arched eyebrows, thick eyelashes, eversion of the lateral lower lid and long palpebral fissures all contributed to this resemblance, especially in children of Asian descent. It has also been referred to as Niikawa-Kuroki Syndrome but is now more commonly known as Kabuki Syndrome.
The health issues of Kabuki Syndrome are variable. Many different health issues have been observed among children with Kabuki Syndrome, however, an individual child may have only a sub-set of those issues. Those born with heart malformations, cleft lip/palate or other obviously physical anomalies will be more likely to receive an early diagnosis, while for others this process may take longer.
MEET MICHAEL
Michael Arthur Smit was born four weeks premature on the 4th January 2006, weighing in at just 1.6kg's and with major problems. Michael had two massive holes in his tiny heart and was in high-risk heart failure. The doctors did everything they could to keep him alive for the next six weeks, at which time Michael underwent open-heart surgery, weighing in at a still-fragile 2.2kg's. After the operation though life seemed to return to normal and other than being very tiny, Michael was doing very well.
However, after Michael's first birthday everything just seemed to start going wrong - he spent most of his time in and out of hospitals, sometimes for weeks at a time, as Michael contracted virus after virus. At this point Michael required regular physiotherapy, medication and feeds. The doctors eventually decided to give Michael a gastrostomy tube in his tummy in the hope that the extra feeds would help him pick up weight. At fifteen months old Michael underwent another surgery for a Nissen Fundoplication to help manage his severe reflux and just one month later yet another surgery to stretch his oesophagus as the Nissen had been done too tight.
When Michael was eighteen months old a geneticist in Holland diagnosed him with Kabuki Syndrome. It came as a big shock to parents, Lizel and Barnard, but did explain why Michael was suffering with so many medical issues. Michael also suffers with common variable immune deficiency which results in his immune system not functioning effectively. To help remedy this, Michael underwent another surgery to insert a Portocath and received his first Polygam (immune treatment)at eighteen months and every three weeks thereafter. Michael now receives Octogam on a four-week cycle.
After extensive physio and occupational therapy Michael learnt to sit by twelve months, crawl by the age of two and walk by the age of three. Side effects of the Kabuki Syndrome include speech impairment, mild cerebral palsy, eating difficulties, poor muscle tone, common variable immune deficiency and cognitive challenges.
Michael will be ten years old soon. He attends the Alta du Toit School for mentally handicapped children, which he loves. Michael loves his friends and laughs all the time. He still needs extensive physiotherapy, occupational therapy and speech therapy now and in the future, to help him cope with all the specific problems.
"Although Michael's life is full of challenges, we take each day as it comes and are very grateful to have him with us. He is funny, full of life and surprises us each day. He loves his food and is very strong-willed."
Sam doing his green bit for raising awareness
What would any Awareness Day be without this precious little face
Sienna Kuhnel xxx
No comments:
Post a Comment