Helaina Stone with her parents Cath and ColinAfter eight years of trying for a baby, a miracle happened – I was pregnant! It was better than winning the lottery - the best day in both our lives.

We found out we were having a little girl and chose the name Helaina. But a scan revealed there were problems – the doctors said she might not survive being born and she could have some limb deformity and they advised a termination. Well, after waiting eight long years for our daughter, we didn’t even need to think about it – we knew we would cope with whatever was sent to us. We already loved her so much.

Helaina was born at 38-and-a-half weeks and spent the next six weeks in intensive care. It all seemed so unreal. It was a different world at home, so lonely and frightening being on my own with her.

When Helaina was three months old, she was diagnosed as the 26th person in the world with Costello Syndrome, which is extremely rare and has a short life expectancy. Those affected are short in stature, find it hard to walk, talk and eat and have sensory problems. There was so little information about the condition at the time, so my husband Colin and I set up the first online support group and website in 1995 and we became a registered charity, Costello Kids, in 2001.

At two, Helaina developed cancer in her abdomen. We lived at the hospital for about 12 months and saw so many kids going through cancer and so many die that it was hard to bear. When she was four, the cancer came back with a vengeance and they had to give Helaina a hysterectomy.

Over the years, Helaina has undergone brain surgery, open heart surgery, had her Achilles tendons lengthened, titanium plates fitted in her knees, rods and a shunt inserted in her back to treat the severe scoliosis which was squashing all her vital organs. She has 11 consultants, a physiotherapist and a speech and language therapist.

At 16, she had her first person-centred review at school. I was amazed at how fantastic it was – all about Helaina’s hopes and dreams for the future and her aspirations. This is what every young person should have – to let their voices be heard and to let them make their own minds up, not have other people doing it for them when they’re not there.

Helaina got involved with a pilot project called Getting a Life, working with a group of 30 young special needs students to show that people with disabilities can have a job and work like everyone else. Helaina was asked what she wanted to do. She said she wanted to go to college and work with children. This was balanced with what good support look like for Helaina.  She knew what she wanted to do so we needed to make that happen. We met the staff at a Sure Start centre and got the ball rolling. Helaina now has a package at college that meets her needs.  This involves some time getting practical experience at a nursery, studying for mainstream childcare modules, she spends some time at Bridge college working on her independence and communication. This college is a smaller and Helaina can get the therapies that she needs like physio, speech and language and hydro and then spends some time at The Manchester College Openshaw mixing with a different peer group and gaining other skills.  Helaina has been part of a Special Educational Needs and Disability Pathfinder programme and Helaina’s Single Plan for Education, Health and Social Care has helped us to create a package that meets her needs.  I hope that by sharing how we made this happen, that other families will be able to get great outcomes for their children and young people.  Helaina is a disabled adult and we want to focus on where she wants to be in the future and how she can have the very best life and it is important to us as a family that she is challenged and pushed like other young people her age.

She also goes to youth club and is a young leader for cubs. She also does dancing – ballroom and Latin. She has been dancing for 10 years and for the past three years she has danced at Blackpool Winter Gardens, representing the North and her dancing school in competitions. She has completed her bronze Duke of Edinburgh Award, has nearly finished the silver and is already working on the gold. She’s done horse riding and drama. She loves life, people, books and going out. She has won three awards and met lots of famous people along the way – she’s even been on stage with Whitney Houston, who sang to her.

When Colin and I stage conferences around the country, Helaina always comes with us. In September, we went to Cardiff with all the geneticists from around the world to speak about the charity and Helaina’s experiences. It’s transformed our lives – we’ve even been to Buckingham Palace to meet the Queen.

When Helaina was a baby, we were told she would never walk or talk, but look at her today! At 21, she’s only 4 feet tall, but she has a great life that she just gets on with. She never feels sorry for herself and is very empathetic to others with special needs.

I wish all those people who said she’d never amount to anything could see her now.