Help fund a cure to cruel condition
August 23, 2023
SPC Head of Senior School Mark Robson is pounding the pavement this month to raise awareness and funds for a cruel condition that has changed his family’s life. He shares his story.
About eight years ago we visited our paediatrician to get an update on our daughter, Skye.
She had been showing signs of delayed development, however, we had not been able to find out the reason.
Little did we know how much that appointment was going to change our lives.
We walked into the clinic curious to find out whether we had any answers, and we walked out of the clinic with a terminally ill daughter.
A visit to the Royal Children’s Hospital the next day confirmed that she had an ultra-rare degenerative genetic disorder called Sanfilippo Syndrome. Both my wife and I had passed a defective gene to Skye that was to have catastrophic consequences.
Skye’s body lacks an enzyme that we have that deals with the waste that is generated when our bodies reproduce cells.
As a result, this waste builds up in organs, in particular her brain. Over time she will lose abilities, she has already lost the ability to speak. The impact is likened to the effect of dementia of the elderly.
Since Skye’s diagnosis, as a family we have been through our ups and our downs. We have grieved the loss of a daughter, despite the fact she is still with us.
When you first hear those words, Sanfilippo Syndrome and degenerative genetic disorder, so much just disappears.
A future of watching your little girl grow up, play her first game of footy or netball, tennis or cricket. Watching her progress through school, develop friendships that last for life and then a relationship that you would hope leads to a happy life.
You grieve as a parent. But then you realise, she is not gone and that you love her just as much, if not more.
Skye has made me a better person, she has taught me to be resilient, to take on whatever life throws at me because she does with grace and dignity.
Steps for Skye is one way that my wife and I can maintain a promise we made to her when she was diagnosed.
In fact, we made a few promises. We promised her love, we promised her happiness and we promised her the best quality of life we could give her.
We also promised that we would never give up on the hunt for a cure and being involved in Steps for Skye is part of living up to that promise.
Last Monday, we completed our first 15,000 steps for Skye and will continue to do so for the full 31 days of August.
Rain, hail or shine, we will pound the pavement for Sanfilippo and all the little angels out there, with us and for those that have passed on.
Skye’s legacy will be that one day families will not have to deal with the heartache of losing a child so early in their life.
You can contribute by donating or just by spreading the word. Either way, put your best foot forward. Simply click here to donate.