LousMission 4 PWS

Hi there!

I'm making a difference and running for a cause that's close to my heart. I will be running in various events such as the Gold Coast Airport half marathon and the City2South for all Mitchell's friends in the Prader-Willi Syndrome Community as well as those Angels that have lost the fight.

My 21-month old son,Mitchell was born with a rare genetic condition called Prader-Willi Syndrome which effects people of all races and genders and around 1 in 15,000 people world-wide. What makes this syndrome most challenging is not only does it not have a cure, it also effects many aspects of what we consider 'normal life'. It effects muscle tone, development, leads to poor growth, feeding difficulties appetite and usually occurs randomly. It's the father's genes that are missing on the long arm of Chromosome 15. PWS is characterised by 3 genetic sub-types. One can have PWS due genes being deleted on the paternal chromosome (in around 70% of cases), the person having what is called maternal uniparental disomy or two of the mother's chromosomes (25%) or by a very rare a chromosomal rearrangement called translocation or mutation which inactivates the paternal genes (<3%). Mitchell's sub-type is still unknown, but we do know he is in the 25% or 3% of cases.

When we received Mitchell's diagnosis, it was a matter of taking in a lot of new and in most cases some frightening information, but it also meant we learnt to be very discriminatory when it came to choosing what was worth reading and watching about PWS as well as learning to enjoy Mitchell for who he was and not be all-consumed by his diagnosis. When he was born, as with all PWS babies, Mitchell had very low muscle tone and had a lot of difficulty feeding. This meant he had to spend 4 weeks in a Special Care Nursery being fed via NG Tube but was thankfully discharged feeding orally. We couldn't demand feed because Mitchell didn't cry when he was hungry and slept a lot of the time. His feeds for many months had to be strictly monitored in diaries and spreadsheets, alarm clocks set to get up for the 10pm and 2am feeds. We organised physios and nurses to visit while we were settling back into home life to help us help him reach the most basic of milestones, such has keeping his little head up during tummy time, rolling over and sitting up. For the past 12 months or so months, we have travelled 2 hours north to Brisbane to the Lady Cilento Hospital to see PWS specialists as well as fitting in all the local appointments with therapists and Paediatricians. He's had to endure wearning oxygen at night to get him over the hurdle of central sleep apnea and now he is being treated for a 62 degree curve (scoliosis) by having to wear a cast for the next four or so months. He will need to wear a brace eventually until his early teens.

We don't know which of the other various symptoms of PWS he will have during his life, but it is likely that at some stage between ages of 2- 8 years of age he will develop an insatiable hunger and anxiety around food.  This drive is so strong that people with PWS can feel like they are starving to death and will do anything to eat. Unless this is strictly controlled it can lead to life-threatening obesity and other medical complications.

This means having to make modifications to our home and lifestyle that ensures food is securely locked away and that Mitchell is only given the right amount of healthy and nutritious food and encouraged to routinely exercise.

At present there is NO Cure for PWS, however we are lucky enough that good treatment is available that makes life a bit easier for Mitchell.

I am also very pleased to be running to raise money in support of the newly formed Prader-Willi Research Foundation of Australia. I know this charity will make an enormous difference to many lives effected by this disorder, including ours. They need to raise vital funds to get many worth-while projects going and employ scientists and clinicians to be the leading researchers into various aspects of this syndrome.

I’d appreciate any contribution, big or small.

For More Information you can go to the Prader-Willi Research Foundation's website http://praderwilli.org.au/ or my FaceBook Page LousMission 4 PWS at https://www.facebook.com/LousMission-4-PWS-956082954472276/?ref=hl

Donations made through this platform are secure and will be remitted directly through to my charity of choice.

Thanks so much for your support!