"We had two happy, healthy children. What was discovered is beyond all comprehension."

Update:

The Sanfilippo Children’s Foundation has launched a campaign of HOPE today for siblings Isla and Jude.

The campaign presents the song This Woman’s Work, featuring Il Divo’s Sébastien Izambard and 15 Australian artists, which was recorded to help raise money to save the brother and sister who suffer from Sanfilippo Syndrome. The campaign will also help save the lives of other children living with this terrible condition.

The music video can be viewed here and downloaded from the HOPE campaign website.

All donations and sale proceeds from the song will go towards a medical trial and treatment.

You can use the tagline #hopeforislaandjude to help promote the campaign.

Previously, Mamamia wrote:

After receiving the shattering news that both her children had a rare genetic disease called Sanfilippo Syndrome, Megan Donnell and her husband Allan dedicated their lives to increasing awareness and funds to help find a cure for this devastating disease.

They have since founded the Sanfilippo Children’s Foundation that aims to drive research and enable access to effective treatments to improve the quality of life for children affected by the fatal childhood disease.

By MEGAN DONNELL

Today I accidentally wore mascara.

It was a typical suburban family morning scene – I had one pre-schooler climbing my leg while the other was no doubt creating art on a nearby wall.  My husband was banging on the bathroom door as I had parked him in and he had an early meeting.  My hair was half done, my outfit half on, and before I had time to think about it I reached for that little wand and began coating my lashes.  For that split second I was back in the ‘time before’.  When wearing mascara was a normal part of life, when visits to the doctor meant someone had a cold or it was immunisation time, when we used to wonder what kind of people our children would grow up to become.  But the ‘time before’ is no more, it evaporated in a split second in a small room in a big hospital last year.  And now mascara is definitely off the agenda.

Let me explain.

When our son, Jude, was born in 2011 we felt our family was complete. Big sister, Isla, who was just under two 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 two years were chaotic as anyone with a young family will understand. Both kids went about their social, well-adjusted business and life was good.

Then mid-way through 2013, following a series of mild concerns regarding the pace of Isla’s development, we decided to have her formally assessed. We were expecting her to undertake some speech therapy and perhaps a little occupational therapy to help her catch up to her peers in time to start school in 2015. What was discovered is beyond all comprehension.

We now live beneath an enormous cloud, a cloud that will never clear and is our new reality. That cloud is a complex metabolic disorder with an exotic sounding name that eight months ago would have conjured up images of a beachside Mediterranean resort. That cloud has robbed us of all hopes and dreams we once had for our children, robbed us from ever fully knowing who they are and their true character, and will eventually rob them both of life.

Isla and Jude have Sanfilippo Syndrome, an ultra-rare genetic disorder for which there is no treatment and no cure. Unless a scientific breakthrough is made very soon, we will most likely lose them both before they reach adulthood, but first we will be forced to watch them disappear before our eyes in the most devastating and heartbreaking way.

Sanfilippo is a ‘Trojan horse’. Our children were born healthy and progressed along the normal development path for the first few years, but as Sanfilippo gradually emerges from its hiding place we can expect to see hyperactivity, sleeplessness, mental retardation, cardiac issues, seizures, blindness, dementia, loss of speech and all other bodily function including the ability to walk, talk and even swallow, and finally death.

The cold, hard facts were laid out for us by a team of doctors all jostling for position, setting their faces with deep sincerity in an unsuccessful attempt to conceal their excitement and secret glee at identifying an extremely rare (and medically intriguing) genetic disorder.  The scientific details were discussed in detail and I learnt more about enzymes and cell production than I ever did in High School Biology. But no one could answer the only questions that mattered.  I had a million of them but none the ‘white coats’ in the room were comfortable discussing. There was one gigantic question of just a single word – WHY? – and an endless string of others.

Then came the kicker. Almost in unison like a doomsday choir they told us “there are some research programs happening around the world but even if something is found that works, the time it takes to get from clinical trial to market is so long, it will be too late for your children”.

We were shell-shocked. We were too grief-stricken to question what we had been told. We clung to our children and cried for hours. We didn’t eat, we didn’t drink, we didn’t sleep, we just cried. In our 18 years together, I had seen my husband cry only once, at the funeral of his brother. One day not long after diagnosis, we stood in the middle of Coles and clutched each other as our tears flowed down our faces and curious shoppers flowed cautiously around us.

While we were busy crying, our network of family and friends gathered around us and we were overwhelmed by love and support. I don’t have words to describe the compassion, sensitivity and selflessness extended to us in the first few weeks after diagnosis. Some people baked, others were there keeping us company around the clock. Some lent us their shoulders to cry on and kept our tissue supply topped up. And while all this was underway, one friend was reading. Reading medical papers; reading scientific publications; reading strategic plans for pharmaceutical companies; reading annual reports for biotechs; reading university research plans. Reading, reading, reading.

Until finally she (let’s call her Angeline because, well, that is her name) had read enough to be convinced that the ‘there is no hope’ message we had left the hospital with was an oversimplified version of the truth. Yes, it is true that the time from trial to market is long….if we are going to simply sit around and wait for it. Yes, it is true that clinical research is expensive and grossly underfunded in the rare disease space….if we expect the government to fund it. Yes, it is true that when the patient population is miniscule there is minimal imperative to find a breakthrough….if those affected are not screaming for a cure.

We met one Sunday afternoon at Taronga Zoo. As her children and mine raced from enclosure to enclosure and giggled and fought and poked and hugged, Angeline gently unfolded her new vocabulary and told me what she had learned. I heard phrases like “orphan drug designation” and “phase I/II clinical trials” and “FDA, TGA, EMA” and “gene therapy”. Underpinning all these words, just lurking under the surface not yet ready to reveal itself was one enormous word of just four letters – HOPE. But I didn’t dare believe it yet.

I started my own reading campaign. Mine was less technical and more emotional. I read about amazing, incredible, inspiring families around the world doing amazing, incredible, inspiring things.

I read about a family in the US who had a sub-type of Sanfilippo so rare that there was NO research happening anywhere in the world when they received diagnosis. Choosing not to accept this they have undertaken an intense campaign of fundraising, lobbying and scientific collaboration and today there is not one but six different programs running as a direct result of their efforts.

I read about a family in France who upon learning their fate seven years ago, travelled the world seeking the most advanced clinical research involving mice, engaged a team of leading clinicians and researchers, established a biotech company and took the product ‘from bench to bed’ with a clinical trial undertaken in humans (human children!) in just five years. A timeframe so accelerated that it is almost unprecedented.

And then the epiphany final arrived. I realised that the only thing worse than losing both Isla and Jude to this dreadful disease would be if we lost these beautiful children and it was all for nothing. That they could live and be so intensively loved and then lost and Sanfilippo could carry on stealing the children of future families. I realised that not only are we in a position where we could make a difference, we must make a difference. We actually have no choice.

Even if the breakthrough comes too late for Isla and Jude, if we can bring forward an effective treatment, even by as little as a year or two, that would be more than a positive outcome: it would be a miracle for some other family sometime in the future.

So, in late 2013 with hearts filled with renewed hope, we launched the Sanfilippo Children’s Foundation. Our mission is to drive research, enable access to effective treatments and improve the quality of life for children affected by Sanfilippo Syndrome. We will achieve this by:

• Enabling participation in clinical trials or special access to emerging treatments until such time as an effective treatment is developed and available on the market;
• Improving the diagnosis path – more accurate and earlier diagnosis to enable appropriate treatment;
• Raising awareness of the disease amongst the community, including the medical profession;
• Providing diagnosed families with clear, up-to-date information on the disease and the latest medical advances;  and
• Fundraising to achieve the above aims.

In the first four months of the foundation’s life we have raised $100,000. We know that this is a small drop in the ocean for what we need for the difference that we hope to make, but it is an incredible achievement for such a short period in ‘start-up’ mode.

As for the mascara, I still very rarely wear it, but I do tint my lashes… because if I have learnt anything these past eight months it is that there is an answer for everything, a way around every obstacle and a solution to all problems if you are prepared to give it your all. And we are dedicated to fighting with every ounce of our strength to give Isla and Jude, and other Sanfilippo children a better outcome than the one they face today.

Sanfilippo Syndrome is a progressive, degenerative disease that is fatal and there is currently no effective treatment or cure. Life expectancy for children with Sanfilippo Syndrome is just 12-20 years. To learn more about the Sanfilippo Children’s Foundation or to make a donation visit our website.