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Hope for Isla and Jude

January 12, 2018

 I first read about Isla and Jude almost a year ago,

and have been following their story ever since.

Not only is their story heart breaking, it is also incredible uplifting.

Thanks Meg so much for sharing your story.

 

Tell us about your family –

 

Isla is 8 and Jude is 6, our dog Remy just turned 3.  Remy is the best behaved of all 3!

Isla and Jude are both happy, energetic, highly social, fun loving kids who get up each morning and grab the day with both hands. Everyone in our community knows them and they know everyone.  Going anywhere, even the short walk from school to home, can take a long time as they need to stop and talk to everyone they see. 

They are best friends as well as siblings.  They like to be together, choose each other’s company, each looks out for the other and they are often found holding hands – even when they are running at full pelt, which can be awkward.

Isla has a real eye for fashion, she loves putting together outfits and no matter how eclectic they are they always seem to just “work”.  Jude can usually be found in the closest pile of dirt playing with diggers or just ensconcing himself in as much grime as he possibly can.

Jude is terrified of the tooth fairy - who he is convinced is a man - as he thinks that he is going to steal his teeth and he will end up with none! Isla is scared of nothing, my fearless little she-warrior!

They also happen to have a condition called Sanfilippo Syndrome which affects all aspects of their lives and hangs over our heads like a big black cloud. But under the layer of Sanfilippo is them – their personalities are theirs, the joy they bring to all those around them is real, and while I wish with all my heart I could change the Sanfilippo, I wouldn’t change the whirlwind of love that is Isla-n-Jude. 

 

Can you give us a brief rundown of Sanfilippo Syndrome?

 

Sanfilippo is a rare neurodegenerative condition that affects about 1 in 70,000 children. It is caused by a single genetic fault that results in an enzyme deficiency.  The job of this enzyme is to clear waste from the body’s cells as part of the normal metabolic process and so what happens is that over time waste builds up in the cells and damages them beyond repair. Unfortunately for Sanfilippo, the cells that are most affect are those of the brain. 

As we saw with Isla and Jude, children with this condition are born seemingly healthy, but over time as their brain cells are damaged they become more and more affected.  The spectrum is wide and how fast a child progresses varies, but in general the first symptoms are seen around the age of 2 years. Starting with mild developmental delay, it progresses through to severe behavioural issues, sleep disorders, intellectual disability and dementia. Then as the degeneration continues their bodies eventually begin to shut down, they lose the ability to walk, talk, even swallow. 

Life expectancy is just 12 – 20 years of age.

 

 

You received both children’s diagnosis’ within weeks of each other – looking back, how did you get through this time?

 

When I think of that time and all that has happened since there is a lot that is still fuzzy, I am sure I have blocked a lot out.  Some days, even now 4 ½ years later, I still find myself wondering if it’s real; how this happened to us.

The early days were very hard.  It was as if this catastrophic event had occurred – like a meteor had hit the earth – but only we were affected.  I would look at people in the street and wonder “how are you still going about your business like nothing has happened?”, but then even I did that for a while.  Between the diagnoses and the months immediately after, I kept working.  My boss knew what was going on and was very supportive but my team didn’t know anything until I had decided what I was going to do. I must have subconsciously known that I was going to have to leave my job to fight for my kids.  But in those first weeks work was almost an escape. During business hours I could go in to this fantasy world where I was just like every other working mum and I had some control of things there.  But you can only operate in denial for so long before reality catches up with you.

It was hard to tell our family and friends.  We started with our immediate circle and gradually worked our way out through the amazing network of people who surround us.  Each time telling it over again was like the first time; it was so hard. While my memories of this time are extremely painful, I also remember the overwhelming love and support that encircled us.  Our closest friends and family shared our grief like it was their own – which I suppose it was, something like this affects everyone but it is hard to understand this when you are in the centre of it. People we barely knew reached out to express their sadness and offer their support.

Now, when I am telling our story I talk about the fog lifting after the initial shock.  When this fog started to lift there was clarity like nothing I have ever had before. I knew exactly what I needed to do, I just had no idea how to do it.

 

 

You guys were told, without pardon, that this degenerative disease was fatal and to ‘not worry about looking for a cure’ – but you have done some amazing things in the last few years to try to challenge that.   Can you tell us about the foundation and what you’ve achieved?

 

We were told not to go chasing a miracle because we wouldn’t find one, that research was happening overseas but it would not come in time for our kids. 

I think there was a concern that we would have “false hope”.  But if there is one thing I have learned over the last 4 years it is that there is no such thing as false hope - all hope is real.  For families like mine sometimes hope is all we have and the only thing that gets us out of bed some days.  Of course I am not talking about wild, unrealistic its-a-miracle-my-kids-are-cured kind of hope.  But I do honestly believe that Isla, Jude and a generation of children with Sanfilippo face a different, better, future than the one that was handed to us upon diagnosis.  And if not, then all we are doing now will mean the next generation of kids will.

Once I had decided to question the “don’t go chasing cures” position, I started looking for answers.  Spurred on by a good friend who first planted the seed in my mind, I began to research, to better understand the disease and the various research programs that were underway. I talked to a lot of people around the world – families, researchers, clinicians, pharmaceutical companies and patient groups – and I discovered 2 very important things. The first was that science was further progressed than we original understood, in fact there were several clinical programs that looked to be moving towards human clinical trial. This was great news! But the problem was that all of these programs were happening overseas and there was no opportunity for kids here in Australia to access them.
The second thing I discovered was that this scientific progress had only been made because it had been funded and driven by families like mine, mostly in the US.

At that point I realised that the only way forward was to join that fight. And it was no longer just about Isla and Jude; I had met many other local families who were going through the same thing. We needed to find a way for Australian kids to have the same opportunities as their counterparts in the USA and Europe. And we needed to do our bit to progress science, if for nothing else than to build a legacy for our children.

So in September 2013, just 4 months after Isla’s diagnosis, I started the Sanfilippo Children’s Foundation and 6 months later (after a lot of hard work) and coincidentally on the morning of Jude’s 3rd birthday, we finalised negotiations on an agreement with a US-based biotech company who are managing a gene therapy clinical program for Sanfilippo Syndrome. As part of this partnership, the biotech agreed to establish a site here in Australia (one of only 3 globally) giving local families their first glimmer of hope. The doctors were right about one thing, drug development does take a long time and it would have been too late if we had waited for that process to finish. But I am immensely proud to say that this trial is now underway and this absolutely would not be happening if we had not challenged what we had been told at diagnosis.

We know that this treatment might not work – a clinical trial by definition is an experiment. The early results from the children treated so far looking promising, but we won’t really know the full extent of efficacy for a long time, years. And even if it does work, this will be just the first generation of such a therapy and it will certainly require further development and refinement. Also, not all children will be eligible for this treatment, some have a different sub-type of the condition and others might not be suitable for a range of reasons.  

This is why we still have work to do. The gene therapy clinical trial was our first project, but we have funded a total of 7 so far and our Scientific Advisors are reviewing the latest tranche of projects for 2018 funding. So far in total we have directed almost $3m in to research.

 

 

Not only are you doing amazing things, you’ve still got 2 little people to care for.  What does a standard day look like for you? And do you have a good support network?
 

When I am not with them I can happily describe Isla and Jude and their infinite and joyful energy as exuberance - and if you only saw them for a few minutes each day it might seem so - but the reality is that it isn’t that at all. They are severely hyperactive, defiant and do not understand the consequences of their actions. They are prone to absconding (Jude in particular) which sees us barricading ourselves in the house or anywhere we happen to be. I can’t take them out in public on my own, such an excursion requires 1:1 so I need someone with me otherwise I would almost certainly lose one and/or leave a trail of destruction. Even at home I can’t simply let them play while go about the various chores that need doing, they require constant line of sight supervision to keep them safe. It is like having two very active toddlers but they are much bigger and we don’t have them growing out of it to look forward to.

Unfortunately, one of the other major challenges is that Sanfilippo causes sleep issues. They take hours to get off to sleep and often wake during the night, as I type this I recall that Isla woke at 2am last night and stayed up the rest of the night. Her teacher messaged me earlier to say she had fallen asleep in class – nice for some!

In short they are really very hard to deal with. We recently had an assessment done on them that found they require 154 hours of direct 1:1 supervision each week. It is impossible for my husband and I to do it all alone. 

On top of this we have weekly therapies – speech therapy, occupational therapy, behaviour therapy.   Our therapy team is incredible, we are very lucky to have them working on “Team Isla & Jude”, and the mainstream school they attend has also been wonderful in finding ways to make it all work.

My family are supportive – my sister is amazing with them, but has a young family of her own and lives about an hour away. Even so, she visits at least once a week and stays over to help through the night every second week. My mum finds it hard to keep up with them now but can help care for one at a time.

We have had a really hard time getting funding for formal supports. The NDIS has been a terrible disappointment for so many families like mine. I have faith that it will eventually get there and make a tremendous difference, but right now there are a lot of problems that mean we need to fight for everything we need. I have found this so shocking. In my previous life I always naively assumed that in this “lucky country” we had a robust social framework and looked after our vulnerable, but this is just not the case for so many people.

 

 

How do you deal with the kids diagnosis emotionally? Is it something you only really allow yourself to think about every so often, or is it a daily battle?

 

Someone said to me once that I shouldn’t let their disease define them. I don’t think I do, but I think it has defined me. Not a day goes by that doesn’t have Sanfilippo feature in some shape or form.  Whether it is caring for the kids, through the work of the foundation or running in to someone on the street and being asked about it.

In a lot of ways we are lucky; Isla and Jude are faring much better than we thought they would at this age. While they are profoundly affected by the condition, they are not showing signs of significant regression yet. I try not to think about this changing but in my darkest hours it is hard to avoid. 

Sanfilippo is always there; looming.

 

Most mums struggle with self care, I imagine for you it would be even harder to put yourself first.  How do you look after yourself?
 

This is a tough one. I don’t have a solution for this at the moment, although I have in the last two years realised that if I don’t focus on my own health I can’t focus on my kids’. Fitness is important to maintaining physical health and sanity.

Now I take 45 minutes very early each morning for a gym work out and this is a Sanfilippo-free zone.  I don’t talk about the foundation, I don’t wear our branded active wear, I don’t think about it.  For now that is working for me.

One of the other positives to have come out of the Foundation is that we have launched an annual campaign called the SFSuper Series which is a series of challenges to help you find your “super point” – running, cycling etc.  I have always loved running but I did drop it for the first few years after the diagnosis, this campaign has got me back in to it.

 

Do you ever get jealous of other people’s family situations, or wish things were different?
 

I don’t think I would describe it as jealousy, but it can be quite sad to see what other families have that we will never experience. I guess that this is amplified even more by the fact that we go to a mainstream school and are definitely the odd ones out, but I love our community and it is important to me to maintain this last link to normal family life.

Of course I wish with all my heart that things were different. I would have loved to have the chance to be a mum in the traditional sense, to have a parent/child relationship with my kids rather than a carer/child relationship – it is a very different way of engaging. To be able to help guide and educate a child through to adulthood, to see the person they are growing to be emerging, to imagine what kind of life they might live, to really know the people they are. 

It is hard to ignore all the “nevers” that they face – graduating school, learning to drive, first loves, career and travel. And my “nevers” too.  I will never be a grandmother, have the opportunity to disapprove of their chose lifestyle, see them stand on their own 2 feet or chase an ambition.  And then there are the little daily things.  They have never written me a letter, told me about their day, described a dream they’ve had.

But there are also a lot of positives. They don’t have any anxieties or hang ups like other kids, no worrying that so and so is not their best friend any more. They don’t have the cognitive ability to know they are any different to their peers. And Saturday sport – that is a HUGE positive! We don’t need to spend our winters standing on the cold sideline of a soccer pitch or netball court. We count the small blessings. 

 

What are your hopes for your gorgeous children? And for yourself?
 

My hope for Isla and Jude is like any parent’s, for them to be happy and healthy. For us I guess this just looks a little different. Isla and Jude have a great quality of life right now; it is just hard for those around them. If I can I want to preserve that as long as possible. They have no pain or suffering currently although I know what is coming as the Sanfilippo progresses. My hope for them is that their health and function can be maintained and that treatment options are found in their lifetime to sustain their quality of life, even if they are palliative.

My hope for myself is that one day I will find peace. Life as a “Sanfilippo mum” is tumultuous, anguished and relentless. I look forward to a day when it is not so but I don’t want this to come at the cost of my children’s lives. Many other mothers in my situation have told me when their children progress through the whirlwind phase of the disease it is bittersweet and they miss the chaos.

If you'd love to give Isla and Jude some hope, you can make a donation directly to

them on their website - www.hopeforislaandjude.com.au - or a general donation to the Sanfilippo Children's Foundation on www.sanfilippo.org.au/donations

 

You can also help by sharing this story, or continuing to follow on Instagram.

 

{Special thanks to Cris Mahoney who captures these images of the Donnell family}

 

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