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<\/p>\nA mother whose daughter was born with a rare chromosome disorder meaning she is non-verbal and has scoliosis along with a painful nerve condition said it is \u201ctoo heart-wrenching\u201d to think about the future.<\/p>\n
Stella Tikkirou and her partner, George Vasili, welcomed their now 11-year-old daughter, Penelope Vasili, in 2014, but Stella said she \u201cknew something was wrong\u201d with her daughter\u2019s health even before she was born as she was \u201ccoming up quite small\u201d on her final ultrasound scans.<\/p>\n
The couple, who are engaged and live in Kingston upon Thames, London, noticed Penelope was \u201calways so upset and really unsettled\u201d as a baby, and at around six months old, Stella realised she \u201cwasn\u2019t really holding herself up\u201d, describing Penelope as \u201ca little floppy rag doll\u201d.<\/p>\n
Stella, who is an apprentice Pilates teacher alongside 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 instantly referred to a paediatrician.<\/p>\n
After several tests, Penelope was diagnosed with a rare chromosome disorder which causes intellectual and physical defects \u2013 and Penelope is non-verbal, has low muscle tone, scoliosis and a rare, painful nerve condition which feels like \u201ctendons snapping when it\u2019s happening\u201d.<\/p>\n
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Stella and George, a coffee barista, have periodically enrolled Penelope on an intensive physiotherapy programme based in Los Angeles in the United States since 2018, but as this can cost anywhere between \u00a310,000 to \u00a315,000 per trip, they have launched a fundraiser to allow her progression to continue.<\/p>\n
\u201cYou can really drive yourself crazy thinking about the future and it\u2019s really painful to go there,\u201d Stella told PA Real Life.<\/p>\n
\u201cThe way we\u2019ve dealt with this is to shower Penelope in love and take each day as it comes.<\/p>\n
\u201cWe\u2019re in survival mode, it\u2019s just one foot in front of the other.<\/p>\n
\u201cI try not to think about what she\u2019ll be like when she\u2019s 18, when she\u2019s 30\u2026no one really knows, and it\u2019s a bit too heart-wrenching for me to go there.\u201d<\/p>\n
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Stella described her daughter as a \u201cvery sweet little girl\u201d.<\/p>\n
\u201cShe\u2019s very happy, she\u2019s very giggly,\u201d Stella said.<\/p>\n
\u201cShe\u2019s a real foodie, she loves music, she loves being sung to, she loves being read to.\u201d<\/p>\n
Stella said she \u201cknew something was wrong\u201d with Penelope\u2019s health even before she was born as she was \u201ccoming up quite small\u201d on her final ultrasound scans.<\/p>\n
Penelope was born with low body temperature and low blood sugar, Stella said, and the pair were kept in hospital for a week following her arrival.<\/p>\n
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Stella said Penelope was also born with a \u201csevere tongue tie\u201d, and her tongue was \u201cstuck to the bottom of her mouth\u201d, making feeding difficult.<\/p>\n
After undergoing a procedure to rectify her tongue tie, Stella said problems persisted with her daughter.<\/p>\n
\u201cI kept taking her back to the doctors because she was always so upset and really unsettled,\u201d Stella said.<\/p>\n
\u201cShe got to about six months old and I noticed she wasn\u2019t really holding herself up, she was really floppy \u2013 like a little floppy rag doll.\u201d<\/p>\n
Stella said she then took Penelope to a different GP.<\/p>\n
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\u201cThey took one look at her and said \u2018not to alarm you, but you\u2019re right\u2019,\u201d Stella said, adding they were then referred to a paediatrician.<\/p>\n
From there, Stella said Penelope underwent lots of tests and checks, before she was diagnosed with a rare chromosome disorder at 18 months old.<\/p>\n
The disorder, named 8p inverted duplication and deletion syndrome, is a rare genetic condition that impacts every cell in the body, according to The Project 8p Foundation, a non-profit organisation researching 8p disorders.<\/p>\n
In Penelope\u2019s case, Stella explained the short arm of her chromosome 8 had broken off, inverted, then duplicated itself before deleting its terminus \u2013 the part at the very end of the chromosome.<\/p>\n
This has then been replicated throughout every cell in Penelope\u2019s body.<\/p>\n
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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.<\/p>\n
As a result of her diagnosis, Penelope is non-verbal \u2013 where she makes \u201clots of sounds\u201d but she cannot formulate words \u2013 she has low muscle tone, scoliosis and a rare, painful nerve condition caused by a rare nerve disorder.<\/p>\n
Penelope now uses Makaton sign language \u2013 which combines symbols, such as pictures, signs, such as gestures, and speech \u2013 to communicate.<\/p>\n
She also uses an AAC (Augmentative and Alternative Communication) device, similar to an iPad.<\/p>\n
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\u201cThe device is at a very basic level, such as \u2018yes\u2019, \u2018no\u2019, \u2018more\u2019, \u2018finished\u2019, \u2018help\u2019, \u2018toilet\u2019 \u2013 so she can tell us basic things,\u201d Stella explained.<\/p>\n
\u201cWe\u2019ve also got a pain symbol on there and different body parts.<\/p>\n
\u201cShe has a really rare nerve disorder and she gets shooting pains down her legs that feel like tendons snapping when it\u2019s happening.<\/p>\n
\u201cShe gets very upset, and she\u2019ll point to \u2018pain\u2019 on her iPad and she\u2019ll point to \u2018legs\u2019 to let us know she\u2019s in pain.\u201d<\/p>\n
Stella added it is hard for her and George to see Penelope in pain.<\/p>\n
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\u201cIt\u2019s really hard to calm her down if she\u2019s in pain because she\u2019s non-verbal and she can\u2019t tell us,\u201d Stella said.<\/p>\n
\u201cIt\u2019s quite soul-destroying to watch and not be able to do anything to help.\u201d<\/p>\n
Stella said Penelope struggles to stay asleep with her condition, and she can wake from anywhere between eight to 12 times a night.<\/p>\n
She is also \u201cquite a small 11-year-old\u201d, Stella said, adding she wears age seven to eight in children\u2019s clothing.<\/p>\n
Penelope now requires intensive physiotherapy to help build muscle and keep her strong.<\/p>\n
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\u201cBecause her condition is so rare, we tend to go for intensive therapy blocks at a specialist physiotherapy clinic in Los Angeles,\u201d Stella said.<\/p>\n
There, Penelope undergoes a range of intensive physiotherapy sessions, including dynamic movement intervention therapy, speech and language therapy and feeding therapy.<\/p>\n
\u201cThey\u2019ve got lots of experience working with kids with her rare chromosome disorder, they\u2019re just amazing with her,\u201d she said.<\/p>\n
\u201cAfter our first therapy block, she made really great progress \u2013 she was able to use a walker and hold herself up \u2013 so her progress is ongoing.<\/p>\n
\u201cObviously, the therapy costs loads of money so we\u2019re always having to fundraise.\u201d<\/p>\n
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Stella said it costs between \u00a310,000 to \u00a315,000 for Penelope to attend one three-week therapy block at the clinic in Los Angles, which includes the costs of flights, accommodation and daily expenses.<\/p>\n
Penelope has received six therapy blocks since January 2018, and the family periodically launch fundraisers to raise the money for their daughter to continue going.<\/p>\n
The latest fundraiser, which took place on September 21 this year, revolved around a day of Pilates classes where those attending were asked to donate \u00a315 per class.<\/p>\n
The page has raised more than \u00a38,000 so far, and Penelope is currently on the waitlist to attend another therapy block at the clinic.<\/p>\n
In her advice to other parents, Stella said: \u201cI\u2019m a strong believer of mother\u2019s instinct, and if something doesn\u2019t feel right with your child, you should definitely investigate.\u201d<\/p>\n