Daniel and Friends Fund: July 2015

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...

Saturday, July 25, 2015

Moms 4 Moms - Housemarket

One of the most challenging, if not the most unwelcome, issues a family will deal with when having a child with special needs is the matter of financial exhaustion. Without doubt there are some families whose financial circumstances allows them the comfort of being able to easily absorb the additional and unexpected expenses which come in the form of intervention therapies, specialised nutrition, multiple doctor appointments, appropriate schooling/daycare, specialised equipment (wheelchairs, ventilators, etc)...to name but a few. But for most families, simply being able to carry these additional expenses within stride is not a possibility. Often, depending on the child's condition/s and individual needs, finding a suitable school/care facility is also not a possibility which brings with it yet another hurdle...additional costs on top of a decreased income.

For this reason, many moms of kiddo's with special needs have to create a means by which to supplement an already strained income and, more often than not, one which they are able to manage around caring for their child fulltime. The Daniel and Friends Fund Moms are, in particular, an incredibly creative and innovative group of ladies, each marketing their products individually through their chosen avenue...until an idea was born...a joint marketing platform which not only provides the opportunity for networking across our group of enthusiastic entrepreneurs, but also an opportunity for the community to come and get involved in a mutually-beneficial, informal setting. And so, with the help of some hugely-appreciated generosity from Christa Agenbag of the I-Learn Therapy Centre in Durbanville (who allowed us to use their beautiful garden, free of charge) we co-ordinated our very first Daniel and Friends Fund Housemarket!

Being our first Housemarket, expectations were conservative...but before we knew it, the garden was humming and filled with animated chatter about all sorts of things...exciting introductions, shared stories and, of course, the beautiful goodies on offering...

The beautiful, sunny morning despite Cape Town being

smack-bang in the middle of Winter, definitely contributed

to the festive atmosphere

Our market is an open opportunity for anyone wanting

to market their products (although we do try not to

duplicate products)

An impromptu photo booth proved wonderfully popular

An encouraging sight...securing the plan for another

housemarket some time in the near future

Moms Janet and Willa making sure our tummies

were not neglected in any way

Hanno Fourie enjoying one of Janet's delicious Fru Fru cupcakes!

The jovial mood had everyone in high spirits

Mom Justine grabbing a photo op, delish coffee in hand

Our Donate-A-Bear corner

And of course, how could we miss out on the photo booth xxx

We are planning our next Housemarket for the 26th September...please keep a close watch on our Facebook page for details.

Thursday, July 23, 2015

The Daniel and Friends Fund celebrates Mandela Day with Reach For A Dream

On Saturday, 18th July, eighteen of our Daniel and Friends Fund families were treated to an incredible morning at Two Oceans Aquarium by the amazing Reach for a Dream team in celebration of Mandela Day. It was amidst an air of barely-contained excitement as close to 100 people, all proudly sporting their new DFF badges, gathered in the foyer of the Aquarium, hugs and smiles a-plenty as new members were welcomed and those already acquainted got down to the delightful business of 'catching up'! The atmosphere could have been no more festive than if there had been a white-bearded, chubby-bellied gentleman jollying himself around, dishing out gifts and chanting "Ho ho ho!'"
Of course, connecting as a group and the new friendships and strengthening of bonds that comes with that was largely responsible for the high spirits, but certainly contributing to the relaxed and comfortable atmosphere was the reassurance that, at that moment, no one individual family was standing out against the rest of the crowd for being different. Oh sure we stood out as a gloriously unique group, don't get me wrong, but confidence in numbers and a sense of belonging was the order of the day!

After exploring the Aquarium for two fun-filled hours, we gathered outside for an additional treat from Reach for a Dream - scrumptious Spur meals for each and every person there, personally delivered by Christelle Gantz and Noeline Jacobs. As tummies were filled and thirsts quenched, conversation touched excitedly on some of our awesome upcoming events...a Housemarket on Saturday, 25th July in Durbanville...our hugely discounted CPR Course at the beautiful La Provence Wine Farm in Stellenbosch on Saturday, 1st August and of course the Totalsports Ladies Race on Monday, 10th August, which at least 12 of our Daniel and Friends Fund moms are participating in, in all their magical glory...watch this space!

Our community-based activities are not only an invaluable opportunity for our moms to connect and nurture friendships but, just as importantly, an opportunity too for our communities to come out and meet our families, hear more about the Fund and get to know our children. We've all heard the traditional African proverb "It takes a village to raise a child" - this couldn't be more true than when that child has special needs!

Our Family

Little Liza Laurie...mesmerised

The Kemps

Adrian Visser finding the exquisite scene behind him far

more exciting than posing for a snap

Christelle, Kate, Lianie, Myself and Noelien

The Daniel and Friends Fund Directors

Lea van Reenen and mom, Marili

Our Housemarket taking place this Saturday.

See you there!

Sunday, July 12, 2015

Raising Awareness

There are very many reasons why people raise awareness for various causes, to name but a few :

To inform/educate
To raise funds for a particular cause
To invite support

Often, for parents of a child/children with special needs, these Awareness Days run a little deeper as they also:

Offer others a momentary insight into the challenges our children deal with
Provide a united platform for the celebration of having overcome some of these challenges
Prompt discussion which can result in new connections made with other parents

We look forward to sharing whatever information we have on hand as each Awareness Day comes around, beginning with the most current - World RTS Day (World Rubinstein-Taybi Syndrome Day) which took place recently on the 3rd of July...

RUBINSTEIN-TAYBI SYNDROME

Genetics

Rubinstein-Taybi Syndrome is a rare, congenital multisystem disorder which was first recorded in 1963 by Drs Jack Rubinstein and Hooshang Taybi, with there being at least 730 cases recorded in medical literature since then. With exact statistics being unclear, it is estimated that around 1 in 300 000 to 1 in 720 000 people are affected by Rubinstein-Taybi Syndrome.

Rubinstein-Taybi Syndrome occurs when a random mutation takes place on the short arm of Chromosome 16, primarily causing genetic changes to one of the following two genes :

EP300 Gene

CREB Gene

Affected individuals with mutations/deletions affecting the CREB Gene (which is the Gene responsible for producing the Binding Protein) are at a higher risk for certain malignancies, e.g. Nasopharyngeal Rhabdomyosarcoma, Neurilemoma, Leukemia, etc.

Neurological

Tethered Spinal Cord ; Spina Bifida Occulta ; Agenesis/Partial Agenesis of the Corpus Collosum; Low Muscle Tone ; Structural Abnormalities ; Seizures ; Moderate to severe intellectual disability

Muskuloskeletal

Angulated thumbs and/or big toes ; high risk for Scoliosis and Kyphosis, Craniofacial abnormalities ; delayed bone age ; short stature

Cardiology

A third of affected individuals have heart defects, with 65% of those having a single defect and the remainder two or multiple defects.

Gastroenterology

GERD ; chronic constipation due to poor muscle tone and a thickening of the bowel wall ; Eosinophilic Esophagitis

Genitourinary

Cryptorchidism (failure of one or both testes to descend into scrotum) - males ; underdeveloped (hypoplastic) or absent kidney(s), repeated infections of the urinary tract, abnormal deposits of mineral salts in the kidneys (nephrolithiasis or kidney stones), unusual accumulation of urine in the kidney (hydronephrosis), and/or backflow (reflux) of urine into the tubes (ureters) that normally bring urine to the bladder. In some cases, duplication of the kidneys and/or ureters may also be present.

Opthalmology

Glaucoma ; Lacrimal Duct Obstruction ; Strabismus ; Nystagmus ; Myopia

Respiratory

Abnormalities of the respiratory system often result in breathing and swallowing difficulties ; soft/collapsible larynx wall ; sleep apnoea

Development

90% of all affected individuals experience speech delays and remain mostly non-verbal, however, have proven to be largely successful with alternate means of communication such as signing, AAC's, etc. Reaching milestones varies considerably as each individual seems to progress at their own unique pace but almost all require intervention therapy of some sort (speech/physio/occupational therapy)

Diagnosis

In South Africa, as in many countries, comprehensive genetic testing for RTS is not available with a Clinical Diagnosis forming the foundation upon which to make a diagnosis based on the characteristic physical features together with the related symptoms/conditions (not all individuals are affected by all of the symptoms/conditions and often not to the same degree either).

OUR RTS HERO - SAM

Follow Sam's blog at Sam The Conqueror