Daniel and Friends Fund: RAISING AWARENESS - August is SMA Awarenss Month

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, August 7, 2015

RAISING AWARENESS - August is SMA Awarenss Month

What is S.M.A. (Spinal Muscular Atrophy)

Spinal Muscular Atrophy (SMA) is an incurable autosomal recessive disease caused by a genetic defect in the SMN1 gene which codes SMN, a protein necessary for survival of motor neurons, and resulting in death of neuronal cells in the anterior horn of spinal cord and subsequent system-wide muscle wasting (atrophy). Spinal muscular atrophy manifests in various degrees of severity which all have in common general muscle wasting and mobility impairment. Other body systems may be affected as well, particularly in early-onset forms. SMA is the most common genetic cause of infant death. The most severe form of SMA Type I is sometimes termed SMA type 0 (or severe infantile SMA) and is diagnosed in babies that are born so weak that are able to survive only a few weeks even with intensive respiratory support. SMA type 0 should not be confused with SMARD1 which may have very similar symptoms and course but has a different genetic cause than SMA. Development milestone attainment is commonly measured using a specially modified Hammersmith Functional Motor Scale Symptoms. The symptoms vary greatly depending on the SMA type involved, the stage of the disease and individual factors and may include:

Areflexia, particularly in extremities
Marked hypotonia in legs, arms, rib, chest, and bulbar (facial) muscles, limpness or a tendency to flop
Difficulty achieving developmental milestones, difficulty sitting/standing/walking
Adopting of a frog-leg position when sitting (hips abducted and knees flexed)
Respiratory distress, weak cough/cry
Bell-shaped torso (caused by using only abdominal muscles for respiration)
Difficulty sucking or swallowing, poor feeding
Fasciculations (twitching) of the tongue
Arthrogryposis (multiple congenital contractures)

Meet Hanno Fourie

Hanno was diagnosed with SMA I at six months old. He was born full-term by C-section following an unproblematic pregnancy. There were no prenatal or perinatal complications, his APGAR score was 9/10 and his birth weight was within average ranges. Motor, visual and social functions developed normally within the first six weeks of life, with appropriate reflex sucking, swallowing and rooting, eye-to-eye contact, advancing neck control and grasp reflexes. Muscular weakness became apparent by eight weeks and feeding difficulties arose. Following neurological examination and genetic testing, Hanno was diagnosed with SMA 1 at six months old with a poor prognosis. He spent several months in hospital with pneumonia shortly after the diagnosis and in October 2012 a decision was taken to ventilate him. He returned home in the December of 2012 and has since been confined to a wheelchair, due to significant generalised muscle weakness and Hypotonia. Hanno is fed primarily through a Gastrostomy Tube and is ventilator-dependent, requiring 24Hr care. He has an older sister, Elle, who is six years old and both medically and cognitively well. Despite profound muscle weakness, compromising both gross and fine motor skills, cognitive development in children with SMA does not necessarily differ significantly from that of their peers. IQ scores have been found to be superior in some cases. This said, the severity of the condition would be expected to determine the potential for cognitive development, for instance, progressive muscular atrophy compromising the coordination of fine motor skills for grasping and manipulating objects and affecting muscle groups used in speech production would interfere with gains in cognitive development in related domains and such effects would likely be cumulative over time.

Hanno and his mom, Chantelle

"At seven months old professors told us to go home and love Hanno for two months! He is the FIRST child with SMA1 on life-support at home.

Hanno is still terminally ill and not a human on Earth has a cure for SMA.

However...Hanno is developing at an excellent pace since his brain is 100% functional - his doctors and professors are highly impressed.

Sister Jane Booth of Red Cross Childrens Hospital paid a surprise visit to our home recently and gave us a "thumbs up"! We are now classified as Professional Home Care Specialists. Again, the new machine container imported for Hanno's ventilator will, with immediate effect, be issued to all children on life-support under Sister Jane Booth's care.

We are proud to be able to say that WE managed this!

As Hanno's mother, I will be assisting Sister Jane Booth this year with new life-support families in respect of home care and implementation of home care plans. Hanno will be actively participating in helping parents understand what this way of life entails for children on life-support.

Six years ago children on life-support remained in Red Cross Hospital and never saw their homes again. With Hanno's highly intelligent abilities guiding us, we are now able to fully understand and act on the needs of children dependant on life-support"

Almost three years on, after been giving merely two months to live, Hanno is not only defying the odds predicted for his survival, but making sure and steady progress...when Hanno isn't impressing those around him with his remarkable iPad skills, he's making the most of his constantly-advancing speech skills to express his delightful sense of humour.

Follow Hanno's story on the official Hanno Fourie Website

Daniel and Friends Fund