Hi all! As some of you know and some of you do not; our beautiful boy was born with a genetic deletion. So rare only about 6o kids in the world have been diagnosed and so rare it doesn't even have a name, only that the deletion occurs at point 5q14.3 and sadly involves a gene that involves development of the nerve cells. You can find out more here http://www.mef2c.org/node/21 . 

Coming to terms with this has been incredibly hard, the doctors tell you that you will greive the baby you were expecting to have. This happens alongside a whirlwind of MRI and  EEG tests, bloods, spinal taps, xrays and specialist exams abroad as well as illnesses, not to mention normal first baby stuff.


I wanted to post this video because it pretty much sums up how I felt; all the excitement and joy of going to the beach and then the last minute you are told your trip will be much harder than everyone elses... we went to the mountains. (in Spanish but its easy to get the point)


Without Wilmer and my mum I am pretty sure I would not be standing.

Max is having seizures and his vision is not developing normally. He needs access to a pediatric neurologist, ophthalmic neurlogist and a host of therapists to ensure he gets the best chance to walk and communicate the best he can. Whilst the Caribbean is wonderful, it falls short of the access to the treatment he needs as well as being so far away from the support of extended family that I need.  And so we have come to the difficult decision to move home to the UK. I have left my job and Wilmer is leaving behind the business that he has worked so hard and invested so much into, he does this because his son and our family is more important.

All of Max's tests have thus far been self financed as our insurance would not cover diagnostics. As his immune system is weaker his first cold resulted in a 11 day hospital stay on oxygen and supportive feeding. We were left with another big excess again after his 2 weeks in the ICU when he was born.


We saved up so much to support having a baby and be responsible adults thinking regular baby expenses and start of school fees would need a buffer. But after my emergency surgery and Max's  diagnostics, illnesses and therapys we find ourselves at the start again . The move home has been the final cash outlay and we will be landing with empty pockets....yikes.

All of you who know us know that we will eventually be fine and we are lucky enough to have the support  and drive to get us back up and running, start working and buffer any NI supplements that I need to pay. But as any Mum would, I am hoping we can get a bit if extra help setting Max up with the help he needs regarding his home therapies and the equipment he needs.

Max needs a whole heap of stimulation to help get his vision developing...


He needs daily physio to prevent strictures, encourage normal movements and build strength. 


He needs sensory tools to help him overcome the overloads he experienced on a daily basis that often sent him into hours of of inconsolable crying (these were tough to endure). He will also benefit massively from hydrotherapy to encourage him to move.

So here I am, cap in hand, hating every minute of having to ask but doing it because my son needs help. I am hoping to set up a therapy room and put money towards wheel chairs and accessability adjustments to Max's new home. Any left over we will send to Dr Lipton Scintillion Institute which funds research into repairing the pathways to new nerve cells. There is also a little boy the same age as Max with the condition but who needs alot more care at the moment and we would love to send them some sunshine too. 

There is a constant guilt when I am not giving Max his physio or helping him track toys to him or stretching him or doing something and I am terrified that the move will mean a pause in his progress. Getting his therapy room would mean so much to us. Thank you all for reading and even just learning about his condition means alot xx.