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UPDATE: Since the previous fundraising event our son Archie came along, completing our perfect little family. Sadly, Archie was diagnosed with Cystinosis at 2 weeks old. It was heartbreaking for us but in this time we have managed to sustain a strong family connection and both our kids take everything that cystinosis comes with in their stride. 

Below is an insight into the difficulties Ava has endured and will continue to face throughout her life but is now going through this battle against cystinosis with Archie, side by side. We hope that both our children and everyone else affected by Cystinosis are living in a lifetime where a cure for this disease is found ❤ 💙

Ava and Archie are both diagnosed with cystinosis. This is a rare genetic disorder and unfortunately there is no cure, yet!

Cystinosis occurs due to a fault in the cells to remove excess levels of cystine, an amino acid. This can lead to kidney problems, vision difficulties and blindness, major organ problems/failure and growth impairment.

They are prescribed medications around the clock in the attempt to slow the progression and further damage to other organs. These can leave them feeling unwell at times. Eyedrops are administered every 2 hours through the day to prevent further damage to their eyes. 

Without this medication things would be pretty bleak, not so long ago it was rare for people to reach adulthood with this disease.

Ava's kidneys have been left severely damaged by this disease meaning that in the future she will require dialysis and inevitably a kidney transplant. At the moment we are able to top her up with the electrolytes and salts that her kidneys flush out. 

Due to this diagnosis Ava has spent a lot of time in hospital in the attempt to stabilise her health. The hospital will always play a big part in their life now even post transplant as medication will be for life time. 

We hope with your generosity the foundation can continue to research for a cure and support those with cystinosis and their families.

Friends and family completed a12 mile walk on Sunday 26th August 2018.

Ava's grandparents climbed Ben Nevis on Wednesday 7th August 2019. More fundraising events to follow...

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