When Molly and Ellie were born, they needed no special care, they were both perfectly healthy.
Being a mum to twins is a special blessing, but extremely difficult. For the next 11 months I lived in a bubble of learning each day how to cope with two babies needing feeding, changing and comforting at the same time. I thought I had it mastered!!
I first noticed Ellie was drinking a lot of water when she was 11 months old. She ate fine and walked at the same time as her sister, she was just smaller, so what? They were just like any other siblings but happened to be born at the same time. We had diabetes in the family so for peace of mind I took Ellie to the GP, who had no concerns at all; blood sugars were normal, just a possible urine infection.
However, it wasn’t an infection. Within a matter of weeks Ellie was diagnosed with cystinosis.
I’ll never forget the phone call from the hospital consultant:
‘We have Ellie’s diagnosis.’
‘Can it be cured?’ ‘… No.’
‘Is it treatable?’… ‘It can be managed.’
Cystinosis is a very rare metabolic genetic disease that only affects approximately 2,000 people in the world. She’s inherited a faulty gene from both me and her dad. As carriers we aren’t affected so we had no idea any of our children had a one in four chance of inheriting both faulty genes.
Cystinosis means an amino acid, cystine, gets trapped in Ellie’s body, turns to crystals and affects every single cell in her body, damaging every organ: kidneys, eyes, lungs, heart, brain etc. There is no cure, only an intense, relentless medication regime consisting of 12 doses that have to be administered day and night to keep Ellie as well as possible for as long as possible.
As a parent, people often joke about lack of sleep, but when you become a parent who is also a carer of a child that needs around the clock medication, any sleep longer than two to three hours is a massive win!
Ellie and her sister Molly have such a special bond. Although at five years old they don’t know the true meaning of how cystinosis will affect Ellie in the future, they do talk about it. They discuss all her medicines and why we give them through a tube in her tummy (they taste yucky and at least it means I don’t have to wake her up at night). Molly often helps to give Ellie medicine and reminds her that without it she would become poorly. Wherever we go, her medication and eye drops come with us too. Her medicine routine has become our ‘new normal’.
RARE DISEASE DAY
Rare Disease Day has always been important to me since Ellie’s diagnosis. People don’t realise how many people live day in and day out with a rare disease. I was completely unaware until a rare disease became our reality. I have so much support from friends and family, Rare Disease Day helps to make others aware it’s just another day to those who live with their diagnoses each and every day.
MY LITTLE LEGEND
I always call Ellie my little legend. Every challenge she comes across she does it so with a smile. Her smile will probably burst out her face one day. I’m so proud of every new milestone she reaches, thriving at school, starting to administer her own medicine, she has so many friends. If it wasn’t for the gruelling medication regime she has you wouldn’t know what she is living with. As she grows older, she will have to learn the importance of complying with her medication schedule to grow and stay well. Until then, it’s my responsibility to take on that role. It’s demanding, frustrating, time consuming, but worth it to see that little face with such hope smiling back at me.
When Ellie was first diagnosed, we were told there was no cure. Without the medication she has now she wouldn’t live past the age of 10. However, since then huge progress has been made where she may be able to take less medications in the future. Stem cell research for a cure is having huge success in the United States despite the global pandemic.
As cystinosis is such a rare condition, when she was first diagnosed all I found online were horror stories. When people tell you not to google something… it’s normally for a reason. I found one blog online that gave me hope for my daughter’s future and contacted the author. Within 48 hours of thinking Ellie had no future I now had hope and was very quickly connected to hundreds of other families across the world on social media who all had a loved one with cystinosis or had cystinosis themselves. These groups have been my lifeline and provided more support and information than any hospital or GP could. Being a parent of a child with a rare disease makes you the expert. You research, you stay hopeful, you know your child and you fight for them.