“I know you feel like you are drowning right now, but you will get through this.”

“I know you feel like you are drowning right now, but you will get through it.”

When Sarah first became a grandmother to baby Alba, she thought all her dreams had come true. Alba was a happy, healthy little girl who loved nothing more than drinking water — even bath water, and puddles if she could get away with it. No one realised that such a simple, innocent trait could be the first clue to a very rare disease.

Then her daughter Molly, a midwife, became pregnant again. At her 20-week scan, doctors noticed something wasn’t right. At first they feared they could see tumours, but further checks revealed the baby had a hole in his diaphragm.

When Molly was eight months pregnant, the family agreed to an amniocentesis — a test to check for genetic conditions. By pure chance, the results brought a new, life-changing diagnosis: the baby had cystinosis.

Cystinosis is caused by a genetic change that leads to a dangerous build-up of an amino acid called cystine. Over time, excess cystine forms crystals that can damage organs throughout the body — most seriously the kidneys and eyes.

“The doctors told us there was a 25% chance Alba could have it too, so they arranged for her to have genetic testing,” Sarah explains.

Just before baby Leo was born, Alba received her diagnosis. Leo needed emergency surgery to repair his diaphragm and spent his first month in intensive care. Then, on the very day Leo was finally allowed home, Alba was admitted to begin her treatment — starting on a powerful medication with difficult side effects, most notably severe nausea and vomiting.

“In the space of just a few weeks, both children had been diagnosed with a condition that changed everything. Things will never be the same for any of us.”

Cystinosis progresses slowly but affects more parts of the body as time goes on. Alba already has reduced kidney function, and both children need medication and eye drops every six hours — day and night, without a break.

“The drugs are brutal; both can be physically sick every single day. We are at the hospital every week for appointments, and admissions are common — to treat infections, manage side effects, or adjust care. But without that early genetic test and the medication, things could have been so much worse.”

Only 2 or 3 children are diagnosed with cystinosis each year in the UK. Research is limited, and reliable information and support are hard to find.

“It feels like we’re driving down a dark, unknown road with no streetlights. There’s no roadmap, no clear answers, and very little research. We don’t know what the future holds, so we live in the moment and celebrate every small win.”

One of those wins came recently: the family held a “No Tube” party to mark the removal of the nasal feeding tubes both children had relied on. In their place, they now have gastrostomy tubes fitted directly into the stomach to deliver medication and nutrition.

But even these changes bring new challenges. “If Leo isn’t wearing his special vest, you can’t take your eyes off him for a second — he loves to pull at his tube. Alba’s split open the other day, and we spent hours in A&E waiting for surgeons to replace it. Leo was also admitted when his tube site became infected. We never quite know what the next day will bring.”

Through the charity Cystinosis UK, Sarah met another grandparent walking the same path. It was he who told her:

“I know you feel like you are drowning right now, but you will get through this.”

Those words stay with her. Now, alongside Molly, Sarah is determined to raise awareness of cystinosis, share their story, and connect with other families facing the same journey — so no one feels like they are navigating it alone.