Hope For Elora With Rare NGYL1 Diagnosis

Amy Anderson is organizing this fundraiser on behalf of Jessica Sharp.

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I am organising this fundraiser on behalf of my sister-in-law/The Treen Family. May it bring them some hope in a time when their hearts are heavy...

Elora is the sweetest two-year-old girl, so fun and full of life. Her parents, Jessica and Adrian, are the kindest people you’ll ever meet — golden-hearted, always putting others before themselves. Which is why their most recent news has been so devastating...

A few weeks ago, The Treen’s experienced every parent’s worst nightmare when they were told their daughter has an extremely rare genetic disorder called NGLY1-CDDG (or Congenital Disorder of Deglycosylation). This disorder is not only cruel, it's progressive (meaning it will worsen with age) and has no known cure, no treatment and a prognosis that is difficult to accept: Elora’s time with us is limited. The best possible life expectancy of a child diagnosed with NGYL1 is around 20 years old, though many face complications long before.

To say Jessica and Adrian are heartbroken would be an understatement.

Their whole world has been completely shattered...

The most common type of CDG affects approximately 900 people, but the chances of being born with NGYL1 is like winning the worst kind of lottery— only 70 people in the world share Elora’s diagnosis! And only 2 in all of Australia... It hurts so much that she is one of them...

WHAT DOES THIS DIAGNOSIS MEAN FOR HER PARENTS?

Not enough is known about NGYL1, but what we do know is this:

It is a complex neurodegenerative disorder, which means Elora’s nervous system will deteriorate with time. She will have delayed development of both communication and motor skills; she may never be able to walk or talk -- it's just too early to tell -- and will continue to experience tremors/movement abnormalities and eventually seizures that are difficult to treat. From what her parents have been told by doctors, many NGLY1 patients go on to develop liver disease (due to elevated enzyme levels) or complications with their eyes and other organs.

Elora will need specialised equipment; a wheelchair or walker (thankfully covered by the NDIS!) are just the tip of the iceberg. There will be endless appointments, medicines, therapies and special dietary requirements like medical grade formula. Her quality of life will be impacted greatly and getting her the help she needs will prove challenging for her parents.

WHAT YOUR KIND DONATIONS WILL HELP WITH:

While The Treen’s grieve the life they’d envisioned for their sweet girl and come to terms with this diagnosis, it would be lovely to lift some of the weight off their shoulders...

They really do need a little hope right now.

On a small scale: Funds will go towards helping Jessica and Adrian improve Elora’s quality of life. Short term, modifications to their home are required to cater to their daughter's needs (again, some things are covered by the NDIS and others aren’t). Eventually, the family will move to have access to essential medical care and support from loved ones. Long term, both parents would like to reduce their work hours to spend as much time with Elora as possible. There will also be flights to meet with doctors overseas, a myriad of tests for clinical research purposes and potentially a medication to give them more time together (currently in development but, when released, will be unavailable in Australia).

On a larger scale: Jessica has spoken to me about a bucket list for Elora... As well as, her desire to start a charity or foundation to help parents and children with NGLY1, CDG and similar rare diseases. Again, this is the kind of person she is — always thinking of others. When she spoke to doctors in the USA they mentioned a plan for the future: to set up two health clinics in the US & Europe. Unfortunately, this means that families in Australia would have to fly over to seek treatment but if a child is sick or deteriorating quickly, they wouldn’t be able to travel. Hence, the desire to one day start a foundation to raise money for impacted families (and eventually a treatment clinic here on Aussie soil).

Any donation, no matter how small, is appreciated beyond words...

If you can, please share this with others!

Thank you SO MUCH for reading Elora’s story, it means everything to me and I know it will mean even more to this wonderful family :)