As some of you will be aware last year I completed the Great North Swim (a 2 mile swim across Lake Windermere) raising over 2.5k (with matched funding) for SWAN (Syndromes without a name) UK

This year I have decided to take on the swim again in June as well as the Wolf Run in September with a group of DB colleagues (watch out for their just giving pages) - a gruelling 10k outdoor run across natural & man made obstacles - I will also be looking for further challenges throughout the year (suggestions welcome)

Once again I will be raising funds for SWAN - an initiative run by the charity Genetic Alliance UK offering support and information to families of children with undiagnosed genetic conditions. I will explain below why our family in particular understand the importance of their work

At 16 months old having shown delays in her development we arranged for our daughter Poppy (now our eldest of three) to see a specialist in child development. The consultant diagnosed Poppy with Global Development Delay (GDD) and advised us that at this stage it was hard to tell if Poppy would ever walk or talk.

GDD is an umbrella term given to children who display delayed development in two or more developmental milestones – these being motor skills, speech and language, cognitive & social and emotional skills (Poppy displayed/continues to display delays across the spectrum).

At 3 yrs of age Poppy, my wife & I took part in the DDD (Deciphering Developmental Disorders) study – a study across 12,000 families in the UK using new genetic technologies. 3 yrs on in late March this year, having been advised by Poppy’s specialists that it was unlikely we would ever receive a specific diagnosis for Poppy we received a letter. The letter stated that Poppy and 9 other children in the UK study had been identified as having a missense mutation (a change in an amino acid in the genetic sequence) on the same gene sequence PPP2R5D and that this was likely to be the cause of Poppy’s delays.

Whilst this was initially a shock this has largely been a positive story  for our family in that we have been reassured that none of the children affected by this mutation have displayed any life shortening/threatening symptoms. Unfortunately as this was a previously un-researched mutation the future in terms of Poppy’s development is still largely unclear.

Not having a named diagnosis makes it difficult to ensure we are providing Poppy with the correct care/treatment; however we have been extremely lucky to have a great support network and to have secured additional support in school where Poppy has a 1to1 carer.

Not all parents are this lucky – a large number of parents struggle to secure the right level of support (in some cases any at all) the lack of specific diagnosis, syndrome, disease etc can make this difficult. This is where SWAN UK can assist these families. Please click the following link to see the valuable support SWAN provide http://www.undiagnosed.org.uk/about-swan-uk-2

I posted this last year but will unashamedly attempt to pull at your heartstrings again should you require further inspiration to sponsor the link below is of Poppy at 29 months achieving what the doctors advised may not be possible (apologies in advance for Poppy’s attire and the maniacal laughter of a very proud dad) with the right care and support more children can achieve milestones most of us take for granted! http://www.youtube.com/watch?v=9wyG8Vx0cMg&feature=youtu.be