A mum has said it's "too heart-wrenching" to contemplate the future. Stella Tikkirou and her partner, George Vasili, welcomed their now 11-year-old daughter, Penelope Vasili, in 2014, but Stella confessed she "knew something was wrong" with her daughter's health even before she was born as she was "coming up quite small" on her final ultrasound scans.

The engaged couple, who reside in Kingston upon Thames, London, noticed that Penelope was "always so upset and really unsettled" as a baby, and at around six months old, Stella realised she "wasn't really holding herself up", describing Penelope as "a little floppy rag doll". Stella, who is training to be a Pilates teacher whilst also being a full-time carer for her only child, said she took Penelope to see a doctor several times, but after visiting a different GP, they were immediately referred to a paediatrician.

After a series of tests, little Penelope was diagnosed with a rare chromosome disorder causing intellectual and physical defects. The condition has left her non-verbal, with low muscle tone, scoliosis, and a rare, painful nerve condition that feels like "tendons snapping when it's happening".

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Her parents, Stella and coffee barista George, have intermittently enrolled Penelope in an intensive physiotherapy programme based in Los Angeles since 2018. However, as the cost can range from £10,000 to £15,000 per trip, they've started a fundraiser to ensure her progress continues.

"You can really drive yourself crazy thinking about the future and it's really painful to go there," Stella said. "The way we've dealt with this is to shower Penelope in love and take each day as it comes.

"We're in survival mode, it's just one foot in front of the other. I try not to think about what she'll be like when she's 18, when she's 30... no one really knows, and it's a bit too heart-wrenching for me to go there."

Stella described her daughter as a "very sweet little girl". "She's very happy, she's very giggly," Stella said.

"She's a real foodie, she loves music, she loves being sung to, she loves being read to."

Stella revealed that she "knew something was wrong" with Penelope's health even before her birth, as she was "coming up quite small" on her final ultrasound scans. Upon arrival, Penelope had a low body temperature and blood sugar levels, leading to Stella and her newborn being kept in hospital for a week.

In addition to these issues, Penelope was born with a "severe tongue tie", with her tongue "stuck to the bottom of her mouth", which made feeding a challenge. Despite undergoing a procedure to correct her tongue tie, Stella said her daughter continued to face difficulties.

"I kept taking her back to the doctors because she was always so upset and really unsettled," Stella shared. "She got to about six months old and I noticed she wasn't really holding herself up, she was really floppy – like a little floppy rag doll."

At this point, Stella decided to take Penelope to a different GP. "They took one look at her and said 'not to alarm you, but you're right'," Stella recalled, adding they were then referred to a paediatrician.

From there, Stella explained that Penelope underwent numerous tests and checks before being diagnosed with a rare chromosome disorder at 18 months old. The disorder, known as 8p inverted duplication and deletion syndrome, is a rare genetic condition that affects every cell in the body, according to The Project 8p Foundation, a non-profit organisation researching 8p disorders.

In Penelope's case, Stella explained the short arm of her chromosome 8 had broken off, inverted, then duplicated itself before deleting its terminus – the part at the very end of the chromosome. This has then been replicated throughout every cell in Penelope's body.

Penelope was also diagnosed with agenesis of the corpus callosum, meaning the bundle of nerves connecting the left and right hemispheres of her brain did not form correctly. As a result of her diagnosis, Penelope is non-verbal – where she makes "lots of sounds" but she cannot formulate words – she has low muscle tone, scoliosis and a painful nerve condition.

Penelope now uses Makaton sign language – which combines symbols, such as pictures, signs, such as gestures, and speech – to communicate. She also uses an AAC (Augmentative and Alternative Communication) device, similar to an iPad.

"The device is at a very basic level, such as 'yes', 'no', 'more', 'finished', 'help', 'toilet' – so she can tell us basic things," Stella explained. "We've also got a pain symbol on there and different body parts.

"She has a really rare nerve disorder and she gets shooting pains down her legs that feel like tendons snapping when it's happening. She gets very upset and she'll point to 'pain' on her iPad and she'll point to 'legs' to let us know she's in pain."

Stella shared the heartache of seeing her daughter Penelope in pain, saying: "It's really hard to calm her down if she's in pain because she's non-verbal and she can't tell us," and added, "It's quite soul-destroying to watch and not be able to do anything to help."

She revealed that Penelope struggles with sleep due to her condition, waking up between eight to 12 times a night. Stella described Penelope as "quite a small 11-year-old", who wears clothing for seven-to-eight-year-olds. She now needs intensive physiotherapy to build muscle and maintain her strength.

"Because her condition is so rare, we tend to go for intensive therapy blocks at a specialist physiotherapy clinic in Los Angeles," Stella explained. At this clinic, Penelope undergoes various intensive physiotherapy sessions, including dynamic movement intervention therapy, speech and language therapy, and feeding therapy.

"They've got lots of experience working with kids with her rare chromosome disorder, they're just amazing with her," Stella praised. She continued, "After our first therapy block, she made really great progress – she was able to use a walker and hold herself up – so her progress is ongoing. Obviously, the therapy costs loads of money so we're always having to fundraise."

Stella revealed that it cost between £10,000 and £15,000 for Penelope to attend a three-week therapy block at the clinic in Los Angeles, which includes flight, accommodation and daily expenses. Since January 2018, Penelope has undergone six therapy blocks, with the family regularly launching fundraisers to gather the necessary funds for their daughter's continued treatment.

The most recent fundraiser, held on September 21 this year, centred around a day of Pilates classes, with attendees asked to donate £15 per class. The page has so far raised more than £8,000 and Penelope is currently on the waiting list for another therapy block at the clinic.

Offering advice to other parents, Stella said: "I'm a strong believer of mother's instinct, and if something doesn't feel right with your child, you should definitely investigate."

For more information, visit Penelope's GoFundMe page.