Some of you will already know that in December 2015 our world was turned upside down when our son, Oakley, was diagnosed with Fragile X Syndrome.
With the help of our friends and family, who have decided to join us in running the Brentwood Half Marathon (Sunday 19th March 2017), followed closely by the mad men running the Brighton Marathon (9th April 2017), we would like to raise money for The Fragile X Society, based in Great Dunmow.
Those of you that know us will be aware that we have started this journey as novice runners (to say the least), thinking we had plenty of time to train when we had the first conversations in March 2016. Now that it is less than 6 months away, we hope that your support and kind donations will give us the push we need to complete what feels like the impossible!!
For those of you that are still googling and trying to understand what Fragile X Syndrome is, here is a brief overview……..
Fragile X Syndrome (FXS) is a genetic condition that causes intellectual disability, behavioral and learning challenges and various physical characteristics. Though FXS occurs in both genders, males are more frequently affected than females, and generally with greater severity
How it presents itself:
An individual with FXS typically has learning difficulties and delayed
milestones, along with typical physical features such as a high forehead,
facial asymmetry, a large jaw and long ears.
There may be features due to changes in connective tissue including
prominent ears, hyperextensible finger joints, and flat feet.
There may be associated anxiety-related symptoms including
obsessive-compulsive and perseverative behaviours, emotional lability and
aggressive or self-aggressive behaviours. Affected girls and women are more likely to have problems with shyness or social withdrawal. In some cases, those affected may also have a diagnosis of attention deficit hyperactivity disorder (ADHD) or an autism spectrum disorder. Around 30% of affected males have autism and as many again may have an autism spectrum disorder.
Other symptoms may include hand-flapping, repetitive actions,
clumsiness, avoidance of gaze, seizures and sleep disturbance.
Specific speech disorders may include echolalia and perseveration (the inability to complete a sentence due to repetition of words at the end of a phrase).
Statistically the diagnosis of FXS is usually made by the age of 3 due to delay in attainment of developmental milestones. Oakley however was lucky when his diagnosis was made on the back of a blood test aged just 1 and a half. Since then he has been under the watchful eye of consultants, a speech and language therapist, physio and occupational therapists, a feeding and swallowing team, a nursery nurse and a special educational needs coordinator. Oakley has been thoroughly spoilt by staff within our NHS and from charities such as SNAP and the Fragile X Society. I am forever grateful for the support that we have all received and will continue to receive over his lifetime.
Prior to Oakley’s diagnosis, Fragile X Syndrome was a condition that we had never heard of and believe, to this day, would still know nothing about. With your help we would love to create awareness, and at the same time, raise as much money as possible for the Fragile X Society, so that they can continue to provide much needed information and support to families like us.
Here is a little guide as to what you donation
could do for families affected by Fragile X Syndrome:
£150 could provide support to a family for a whole year, including use
of the helpline, conferences, and free resources.
£50 could run the helpline service for 1 hour, through which they have
thousands of contacts each year.
£16 could pay for a family to receive the Fragile X Society newsletter
for 1 year, which includes details of events/conferences, the latest research, family
experiences and other great information.
£3 could pay for vital information to be sent to a newly diagnosed family.
Thank you for taking the time to read our story and
we hope to make a real difference to a charity that is so close to our hearts.
Holly & Ethan xx
Brentwood Half Marathon Runners:
Holly Kannor, Ethan Kannor, Ralph Kannor, Haland Kannor, Liana Barnes, Tom Whitehead & Shannon Bowles
Brighton Marathon Runners:
Ethan Kannor, Ralph Kannor, Haland Kannor, Tom Whitehead & Dave Edwards