Seven-year-old needs 27 doses of medication a day to prevent kidney failure
For a young girl from East Dunbartonshire in Scotland, battling a serious rare disease means she endures an unrelenting routine of medication, which is severely disrupting her childhood.
Julia Welsh was diagnosed with cystinosis – a condition which affects the kidneys and eyes – when she was just two years old. Now seven, Julia is navigating a life plagued by unpleasant treatments and symptoms.
Mum, Kirsty, says: “Julia’s life is constantly interrupted. Whatever she’s doing, I have to give her her medication. School, friends’ parties or dance classes, everything gets cut short. There is no way around it. When medicine is due, she has to have it.
“We don’t get much sleep, as we need to be up every six hours for Julia’s medication. She struggles with focus and tiredness because of this. Her condition means she needs the toilet more often than friends, and her medication can cause stomach ulcers. She also has aches and pains in her legs and struggles with her eyes. Crystals build up in her corneas, and only eye drops every two waking hours helps to prevent this.
“Julia is a typical wee girl. She likes dancing, singing, playing with her friends and being outside. She’s very artistic, loves fashion and enjoys making clothes for her dolls. I wish she could enjoy life without the relentless impact of her condition. She’s becoming more aware that her life is different to other children and is starting to feel self-conscious. She has cried a lot, questioning why this is happening to her.
“We try to stay positive and be grateful that there is medication. Other children have illnesses that cannot be treated at all. We’re fortunate in that sense, even though life can be very hard. It is likely that Julia's kidneys will fail in the next five years, but medication is buying her time, allowing preparations for a transplant to avoid dialysis.”
Long-awaited diagnosis
Julia did not show any signs of being unwell until around her first birthday, when she became dehydrated, constipated and began urinating more than normal.
Kirsty says: “She began asking for water all the time, even in the middle of the night. She was peeing a lot, going through nappy after nappy. I knew something wasn’t right and took her to the doctor. I was told that her drinking lots was probably related to teething, but the problems persisted, and we went back and forth to the GP for six months. It took a long time for my concerns to be taken seriously.
“Julia was regularly sick, lost weight and stopped growing. It was horrible. I was told by the GP that the amount of fluid she was drinking could be dangerous and to restrict her to one litre a day. That caused a lot of distress. She cried all day and night, and I had to live with the guilt of not being able to give her water. That went on for months, and she literally tried to drink from the dishwasher because she was so thirsty.
“It was the most horrific time. While Julia was suffering, my dad was also dying with cancer, and we were in and out of hospital constantly. Julia’s health continued going downhill. She wasn’t sleeping or eating. Her eyes became grey and sunken. She would shake a lot and vomit regularly. I was begging the GP to send us to a specialist urgently.
“I fought hard for Julia to be assessed, and she ended up in hospital for four weeks. The care we received there was amazing. The team were on top of her illness straight away. We found out that restricting Julia’s fluid intake was actually damaging her kidneys, so those restrictions were removed.
“She was looked after so well in hospital and her health began to improve. She had a gastronomy button (a small tube used to provide liquid feed) inserted and was able to gain weight which made a massive difference.
“Although Julia wasn’t showing all the typical signs of cystinosis, the condition was diagnosed within a few months of her being in hospital, after going through genetic testing. By that time, she’d been unwell for about a year. If our GP had listened to our concerns sooner, she would have been diagnosed more quickly, and it may have been possible to prevent kidney failure until adulthood.”
What is cystinosis?
Cystinosis is a rare hereditary condition in which an amino acid called cystine builds up in cells. The excess cystine forms crystals than can causes problems in different organs. Kidneys and eyes are most often affected, but the condition can go on to impact many organs, muscles and bones.
Without treatment, most children with cystinosis will develop kidney failure before the age of ten, requiring dialysis or a transplant. The build-up of crystals can also make the eyes sore, sensitive to light and cause vision to become blurred.
It is estimated that only one in 200,000 people in the UK have cystinosis, with just two to three new cases diagnosed annually.
Strict medication routine
Julia was discharged from hospital with a strict plan of 27 doses of medicine each day, to slow the damage caused to her eyes and kidneys by cystinosis.
Kirsty says: “It took a year for Julia to adapt to her medication. At nursery she got every single bug going because she was so fragile. Each time she got ill, she became dehydrated and ended up in hospital. Missing so much time at nursery meant she was held back a year at school. She’s a year older than her friends but fits in well.
“Her school have always been so supportive. We have our routine now and things are going relatively well. I’m able to provide Julia’s medication because I work onsite at her school, and we’re admitted into hospital less than before.
“It is relentless managing everything and tiredness can build up. Every single night, my husband and I wash all of Julia’s tubes and syringes as well as preparing her feeds and medications for the following day. There are so many, and it takes such a long time.
“Julia is a very strong-willed child and naturally doesn’t like her treatments. She has a lot of medical trauma and can become hysterical before her regular blood tests. She’s having therapy with a child psychologist to try and help. We hope as she gets older and understands more, she will be more willing to receive treatment.”
An uncertain future
It is likely that Julia will need a kidney transplant in the next five years, but there is a lot about her condition and prospects which is not yet clear.
Kirsty says: “Much about cystinosis is unknown because it’s a rare disease. We don’t know how Julia’s body will respond as she gets older, although we’ve been told to expect her kidneys will fail within the next five years. You could become depressed thinking about the future, but we’re just trying to focus on what we need to do today.
“The whole family has come forward to offer a kidney to Julia. I’m keeping myself in the best possible health so that I can donate if I’m a match. We all want to avoid dialysis. The care she has received from the hospital has been amazing. They’ve made us feel so reassured that she is in the best hands.
“There are developments happening in research that we’re hopeful could make a difference for Julia too. I don’t want to build my expectations too high, but it’s important to keep raising awareness and helping to fund research to push things forward.
“Julia will need time off, but I hope she can have as normal a school experience as possible and pursue her interests. She doesn’t fully understand her illness yet, and I don’t want to burden her with the reality of it. She knows her kidneys don’t work as well as everyone else's, but we try to protect her from worrying about the future. That’s for us to consider and prepare for.”
Collectively common: the devastating impact of rare kidney diseases in the UK
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The report shows that people with rare kidney diseases face significant diagnosis delays, inconsistent care and long waits for new treatments, with children in particular left at greater risk of medical, educational, and economic disruption.
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