Daniel and Friends Fund

Daniel and Friends Fund
The Daniel and Friends Fund...creating the platform for a stronger, more intimate special needs community

What is the Daniel and Friends Fund?

On the 23rd August 2013 little Daniel le Roux lost his lengthy and courageous battle with Leigh Syndrome, exactly one week after another little warrior, Mariele Laurie, succumbed to complications of the syndrome she suffered from, Aicardi-Goutieres Syndrome. Professor Pieter Fourie, whose care of and love for Daniel and Mariele had gone over and beyond anything which might be considered fair professional expectation, was determined not to allow the heartache and devastation caused by such tragedy to go without lending itself to a higher purpose...and so shortly after Mariele and Daniel had earned their angel wings, Professor Fourie shared with Kate and Lianie, their mothers, his vision for an organisation which would provide much-needed support for other parents who might be on a similar journey. Just a few short months later, the Daniel and Friends Fund was born guided by, by this time, three special needs mothers, each symbolic of the three friends who had helped Daniel in the Biblical passage from which Professor Fourie had drawn his inspiration.

Since their launch in February 2014, the Daniel and Friends Fund (a registered non-profit organisation) and the dedicated and driven people behind it, have provided not only the emotional and psychological support often sought by parents of children with special needs, but have also committed to ensuring that these parents have had access to the necessary knowledge and training in order to equip them to care for their children in the best possible way that they can. While largely focusing on top priority issues like providing extremely affordable CPR courses, free therapy sessions, psychology-based programs for the parents, occasional donations of items/equipment necessary for caring for a child with special needs...the importance of also creating a fundamental base from which friendships and 'normalcy' can stem has not gone overlooked. To this end, the Daniel and Friends Fund mommies are often treated on special days like Mother's Day and Women's Day and, where possible, these invitations are extended to the entire family for celebrations such as Mandela Day, Christmas Day, etc.

The purpose of our blog is not only to provide the opportunity for sponsors, supporters and followers to stay in touch with the various projects and events we're busy with but also, and just as importantly, to provide an insight for others into what life entails for families on a special needs journey, as well as enlightening fellow parents to the fact that this journey need not be travelled alone...

Friday, October 23, 2015

Raising Awareness - Kabuki Syndrome

Today we showed our support for raising awareness for Kabuki Syndrome :

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.


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