Life with cystic fibrosis – meet 11-year-old Sophia
8 Aug 2023, 11:15 a.m.
Eleven-year-old Sophia was diagnosed with the inherited condition cystic fibrosis (CF) at GOSH when she was just a few days old. She’s been a patient at the hospital ever since.
Over the last two years, Sophia has spent a lot of time at GOSH due to having a persistent infection. During these longer stays, she enjoyed learning with The Children's Hospital School at GOSH and doing arts and crafts with the Play team. She even won “best-decorated room” at Halloween last year.
Today, Sophia is doing well. She loves exercise and enjoys dancing, running, swimming and bike riding. She recently passed her eleven-plus exams and is looking forward to attending secondary school in September.
Here, Sophia’s mum, Lisa, tells us more about her and Sophia’s GOSH journey.
Spending her first month at GOSH
When Sophia was born, doctors noticed her stomach was extremely distended.
“She looked like she was pregnant,” Lisa recalls.
Lisa held Sophia for a few minutes before she was taken to the special care unit at their local hospital. Not long after, Sophia was transported to GOSH in an incubator.
“They phoned us as we were driving to GOSH and said, ‘We’ve put cameras down and up; there’s some kind of blockage. Can you give authorisation over the phone to operate?’
“We said yes over the phone. The next time I saw Sophia, she was in intensive care because she’d just been operated on. So, it wasn’t how you plan your first few days of having a baby.”
Sophia’s bowel obstruction was meconium ileus, which can be a symptom of CF.
This is where a baby can’t open their bowels to pass meconium (a thick black material present in the bowels of all newborn babies) because the meconium is so thick that it blocks the bowel.
A few days later, doctors at GOSH confirmed that Sophia had CF.
Lisa already knew about the condition as her friend also has it.
“It was just hard processing it,” she says. “People have certain illnesses that come and go, and that’s awful. But to seal it from day one, it was pretty hard.”
Sophia was in intensive care for around 10 days before staying in the hospital’s Squirrel Ward and then Badger Ward. Lisa initially stayed in charity funded family accommodation before moving onto the ward with Sophia.
After a month at GOSH, it was time for Sophia and Lisa to go home.
“It was extremely petrifying coming home, because obviously when you’re in hospital, you’ve got everyone protecting you and your child. And then you come home and go, ‘What do I do?’.”
From that point on, Sophia remained under GOSH’s care.
“You begin to go backwards and forwards, backwards and forwards to GOSH,” Lisa explains. “We’ve always pretty much had the same team since the day she was born.”
How cystic fibrosis affects Sophia
CF affects many internal organs, but in particular the lungs and digestive system by clogging them with thick, sticky mucus.
“Sophia’s problem has never really been her lungs; hers has always been her digestive system,” Lisa explains.
“She’s had three bowel operations, two at GOSH, one at another hospital, because what happens is the bowels get stuck to each other, so they stop [working].
“She had one at a day old, one at about five months old, then she had one at three-and-a-half. It’s never 100% resolved with CF, but her bowel movements are normally okay – it’s only bad if you get her medication wrong or she’s got a gastro-viral infection which can cause havoc.”
Sophia has also got CF-related liver disease. Her lungs, however, are healthy.
“We’re lucky she has 105-110% lung function, whereas a lot of people are in the sixties and seventies. So, we’re fortunate in that respect,” Lisa explains.
Daily life with cystic fibrosis
For Sophia, living with cystic fibrosis means taking medication and doing physio every day.
“She takes between 30-50 tablets a day,” Lisa says. “Many of them are vitamins – with CF, you don’t absorb vitamins from food, so you have to take lots of supplements.
“There are also tablets for her liver, and Creon capsules – she has to take one for every three grams of fat she eats.
“Creons are pancreatic enzymes that replicate what a pancreas does in a normal body – breaks down fat. You get very good at working out how much fat there is in everything.
Sophia also does physio three times a day. She does 15 minutes in the morning, five minutes after school and 15 minutes again in the evening.
“She has to blow into an Aerobika, which helps regulate her breathing. She also has a nebuliser with saline that she needs to use once a day and another nebuliser that breaks down the mucus in her lungs.”
“All these things need to be spread out throughout the day so there’s a timetable to keep to every day. CF doesn’t have a day off unfortunately!” Lisa says.
“She's now on Kaftrio and Kalydeco [a relatively new class of medicines designed to help improve lung function for people with CF], so that's brilliant. It was for 12-year-olds or over, but then this year they managed to get approval for six- to 11-year-olds. Basically, what it does is it corrects the faulty genes - it kind of puts a plaster over it - so it makes the salt go around your body as if it was working normally.
Visiting GOSH every three months
As well as managing her condition at home through medication and physio, Sophia visits GOSH every three months.
“They normally check your height, weight, your lung function, you see the dietitian, the clinical consultant, and talk about how you're feeling and the plan for the next three months,” Lisa explains.
“And sometimes they want to do blood tests because they have to keep checking her liver – she's got a fatty liver. So they have to make sure the drugs are all still working, but obviously not causing any adverse effect or anything.
“She used to be petrified of blood tests, we used to have to have half a dozen nurses holding her down, and she screamed the place down for two or three hours. And now she just walks in and shoves her arm at the nurse.
“Then annually you go in for review, that's normally April time. They do ultrasounds, chest x-rays, bone density tests, because with CF it's not just the digestive system and lungs, it's your bones as well, you can get osteoporosis. Then they do a diabetes check, because you can get diabetes with CF. So, they test you for lots of different things.”
Due to the risk of cross-infection, CF patients are not allowed to mix with each other at GOSH.
"We work hard to ensure they don’t miss out on stuff, but it can be challenging," GOSH Play specialist, Lizzie, explains.
"They have their own room at clinic appointments and the medical team go into them one at a time. Then the room is cleaned to the highest level."
Regular stays on Leopard Ward to treat infection
When Sophia had her tonsils out in April 2021, a swab found that she'd been growing a nasty bug called NTM, or nontuberculosis mycobacterium.
“Basically, it's a bug that can stay dormant in your lungs and it can just fester away,” Lisa says. “And obviously, with CF because of the build-up in the mucus, it's just a fantastic breeding ground. It's not one of the worst ones to get, but it is one of the hardest ones to get rid of. Some people never get rid of it, it's a real nasty one.”
Because of this bug, Sophia had to visit GOSH every three months for two weeks of IV antibiotics. She stayed as an inpatient on Leopard Ward.
“Because you're in isolation when you go in, you don't really see people,” Lisa explains. “But if you've got your curtains open, you can see everyone, and she wave(d) at the other children and they put little signs up in the window like, 'Hello, how are you?'.”
Although Lisa says it "wasn't plain sailing" during this time, with Sophia becoming quite unwell while on the antibiotics, she was found to be clear of NTM in May this year.
The impact of the The Children's Hospital School and Play team
For Lisa, the GOSH School and Play team have been “amazing” during Sophia’s longer stays at GOSH.
“The school have been absolutely awesome because she was doing her eleven-plus and the tutors have come in every day, she absolutely loved it, it was either on Zoom or a teacher in person,” she explains.
“That and the Play specialists are the highlights of her day. If you didn't have them coming in a few times a day, it would be a very long two weeks.
"With the Play specialists, she normally does lots of colouring, drawing, painting and arts and crafts.”
Sophia was at GOSH during Play Street 2022. This is where the hospital marks Clean Air Day by closing Great Ormond Street to traffic and transforming it into a rainbow-themed play area.
“That was so nice because she was feeling really, really, really poorly that day. Luckily, Lizzie the Play specialist got her wheelchair because she was feeling really frail.
“It was so nice walking out onto the street and just seeing Great Ormond Steet closed to traffic.
“There were a lot of different stalls, so she was going to all of them – it's all arts and crafts and there was a games console one.
“It was nice having everywhere decorated outside and all the road colourful with the rainbows and the chalk… and the laughter. That was a really lovely day.”
Sophia also spent Halloween last year at GOSH and marked the occasion by decorating her room.
“We won the prize for best decorated room. I think it was self-proclaimed! There wasn't a piece of a wall that didn't have a skeleton or a pumpkin or a witch or something hanging on it,” Lisa says.
During stays at GOSH, Sophia also enjoyed ‘spa nights’ with her mum, with the pair doing manicures and pedicures together.
“I sleep in the room with her," Lisa says. "They have four CF bedrooms, obviously they're not allowed to interact with other patients because of cross-contamination.”
“If I didn't have CF, would I still be the same?”
"Everyone says that Sophia’s brave, because she has to do so much because of CF – especially over the last couple of years where we’ve been in and out of hospital quite often,” Lisa says.
“She is very resilient, her attitude is absolutely outstanding, she copes very well.
“She loves telling everyone she's got CF, she's extremely proud of it. She doesn't shy away from anyone asking, ‘Why are you taking those tablets?’
“She's got up in assembly and told everyone, and she's done presentations, she's very articulate about it.
“She always says, ‘If I didn't have CF, would I still be the same?’. I say, ‘Of course you would, CF is part of you, it doesn't define you’.”
Sophia recently passed her eleven-plus exams and is looking forward to going to secondary school next year.
“She's going to be going to senior school, she's going to be on school trips on her own, she's going to have to get to that stage where she's got to work out Creons and do things on her own,” Lisa says. “So that's the next stage for us, her taking a little bit more ownership of it.”
Supporting GOSH Charity
From swimming 5k to running a marathon, Lisa has continued to raise money for GOSH Charity over the years.
“If there's a GOSH thing, I normally try to do it,” she says.
“If you did not have people fundraising, then you wouldn't have the Play specialists...
“The parent accommodation over the road is fantastic.
“You've got the NHS, which does an absolutely fantastic job of keeping you well, but if you didn't have all the ancillaries, it would be a totally different stay in hospital.”
“We’re just so thankful to the charity for everything that they've done over the last 10 years.”
You can learn more about cystic fibrosis by visiting the GOSH website.
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