I've spent many years of my life caring for my 2 daughters who were diagnosed with Sanfilippo Syndrome at an early age. I've always been a working Mum and have been blessed with numerous 'Other Mothers' who have greatly assisted in caring for my beautiful girls.
Other things in life become secondary when your child or children have special needs. It's not always easy and it's usually very solitary, however I have been blessed with a huge amount of support from family and friends.
Seeing the amazing work that Megan Donnell is doing to try and save her kiddies from the life my family has had, has greatly inspired me.
If such a trial was available 25 years ago, I would be doing exactly what Megan is now doing... anything possible to fund these clinical trials, and possibly save my children from this dreadful disease.
My input may not be huge dollar wise, but Megan and all families who have children with Sanfilippo Syndrome simply need us all to stand beside and lend a hand.
It's not too hard to give up a few things once in a while, and it can make so much difference to the lives of these innocent children.
Clinical trial's will be gearing up soon and this could be THE CURE!
We hope to raise around $2,500,000 to assist the trials, and so far the Sanfilippo Children's Foundation in Australia have raised close to $700,000 which is an amazing effort for a family run project, however we are still way short of the funds we need to make this happen.
I'm aiming to raise around $5,000, so any help you can give will make a huge difference. I am committed to helping raise funds that could potentially save the lives of these gutsy children and ease the burden for their families.
Sanfilippo Children's Foundation is dedicated to progressing clinical trials and research into the effective treatment of Mucopolysaccharidosis III, also known as MPSIII or Sanfilippo Syndrome. Sanfilippo is a serious condition, delivering the most devastating outcome imaginable to patients of the disease and their families. But there is hope. There has been significant clinical progress in recent years and we believe that an effective treatment is within our reach.
The Donnells Story - Founders of the Sanfilippo Children's Foundation
When our son, Jude, was born in 2011 we felt our family was complete. Big sister, Isla, who was just under 2 at the time, fell in love with Jude immediately as did we all. We considered ourselves blessed having two happy, healthy children and we had such hope for our future. The next 2 years were uneventful but chaotic as anyone with a young family will understand. Both kids went about their social, well-adjusted business and life was good.
Around the age of 2 ½ years of age, we started to have some slight concerns with Isla's language development. She had lots of single words and was joining 2 or 3 words together but the longer sentences and active dialogue we observed in other kids her age didn't seem to be developing as fast as expected. We weren't overly concerned as our paediatrician assured us she was still within normal ranges, and we attributed her speech delays to the regular ear infections and ENT issues to which she seemed to be particularly partial. After Isla had her first set of grommets inserted and adenoids removed we did see some improvement but not as much as we expected we would if that was the underlying cause of her speech issues.
As time went on our concerns increased as we observed Isla slowing in other developmental areas, including her gross and fine motor skills. We focussed our effort on speech and occupational therapies and we did see improvements. Isla was developing, just not as fast as her peers.
In 2013 Isla started pre-school, an exciting milestone for any almost 4 year old! In her second week I received a call from the director to discuss concerns she had with Isla’s development. Until this point, every time we had raised the subject with the day care centre Isla previously attended, we were always assured that she was comparable to her peers. Although it was difficult to hear that staff at her new pre-school were worried about her development, it was also a great relief that it was recognised by someone else as we had felt for a while that something was “not quite right”.
We were referred for a formal developmental assessment. The initial outcome of this was that Isla had "mild development delay" across all areas and we were given a number of actions and activities to put in place. We were obviously quite upset by this but were optimistic that we were well placed to give Isla all the help we could to allow her to be the best she could be. Sadly 2 weeks later we received the devastating news that turned our world upside down. As part of the assessment Isla was given some pathology tests to rule out any underlying medical issues that might be causing her delays. Our expectations were managed that this was highly unlikely but it would put our minds at ease on one front at least. One of the urine tests identified elevated GAG levels that are a key indicator for Mucopolysaccharidosis 3 (aka MPSIII or Sanfilippo Syndrome).
As this is a genetic disease we wanted to be sure that Jude (by then 2 years old) didn’t also have it. We saw this as a formality as we had not observed any delays in his development - quite the contrary we have trouble shutting him up and he is always racing a million miles an hour to keep up with the “big kids”. We understood that based on genetic statistics there was a 1 in 4 chance he might be affected but focused on the 3 in 4 chances he wouldn’t. Unfortunately, 4 weeks after Isla’s initial diagnosis we learnt that Jude had inherited this dreadful disease too and that both children were type A.
The English language does not contain words that adequately describe the impact that this double diagnosis has had on our family, we have been absolutely shattered and devastated and this is beyond anything we ever imagined possible.
At the moment there is no effective treatment available to “Sanfilippo children”. But around the world there are dedicated scientists, researchers, patient groups and families devoting their lives to changing this. We are proud to join this movement and will fight and fight and fight not only for our children, but for the others living under the spectre of Sanfilippo and future families who have not yet heard of this disease but will one day be faced with this agony.