Daniel and Friends Fund: Raising Awareness

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...

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

Daniel and Friends Fund