My name is Olivia and I have a rare genetic disorder called Prader-Willi Syndrome. I am a very special little girl and you can read about my story here. I hope you like my website, thank you for looking, please visit again soon.
After many years of trying for a baby our dreams came true and we were going to have a baby! I had a fantastic pregnancy and kept healthy, fit and well and we could not wait for our child to be born. I was induced at 42 weeks and Olivia Leia Tomlinson was born on the 24 April 2007 at 12.19am. I looked at my daughter and after so many years of wanting and longing for her I thought miracles really do happen!
Nothing could have prepared us for the rollercoaster ride we were about to board. After 24 hours our concerns for Olivia were increasing as she would not feed and seemed so lifeless and floppy. Olivia was taken to special care for tests. I will never forget my tiny baby lying on a table with several specialists around her trying to find out what was wrong. I felt so helpless and thought we were going to lose her. Olivia had to have a lumbar puncture and that was the first time we heard her scream. Olivia had an infection and she was put on antibiotics.
Within an hour Olivia had monitors and tubes all over her body and was put into an incubator. There was a little window and we were allowed to put our hand in to touch our baby girl. Olivia had to be tube fed through her nose so I spent the next few days, most of the time expressing milk and not able to hold my baby. Olivia’s daddy sat by her side 24 hours a day for 5 days and we waited for our daughter to wake up. We had heart breaking days!
We were eventually told that Olivia’s infection had gone and that we could go home, they gave us an appointment in 6 weeks and were told it would take time for Olivia to recover. Olivia was like no other baby and I spent many hours watching her lay in her basket sleeping most of the time and looking vacant when she was awake. She didn’t cry and wouldn’t wake for feeds. Her weight was dropping rapidly so we soon had to get into a routine of setting our alarm hourly to feed her. It would take hours to feed her and we were literally pouring the milk in. I just knew something was wrong but kept being reassured that it would just take time.
Olivia has needed specialist help from the beginning and the care she has received and continues to receive is from Physio therapists, Occupational therapists, Orthotics, Ophthalmology, Hydra therapy, Neurologists, Plastic surgery, Hearing, Endocrinology, Speech and Language, Geneticists, Dieticians and many more! Olivia attends an Integrated Resource in mainstream school nursery and will be going to the mainstream school with support in place.
I had my suspicions for the last couple of years but they were unable to get enough blood from Olivia until March this year and on the 1 April 2011 Olivia was diagnosed with Prader-Willi Syndrome. My heart hit the floor.
Prader-Willi Syndome is a very complex condition and is caused by a baby failing to receive active paternal genes, a specific section of one chromosome 15. Each individual is affected differently however the main characteristics are low muscle tone, lack of physical growth, small hands and feet, sexual immaturity, learning difficulties from mild to severe, behavioural difficulties, emotional issues, obsessiveness and an increased interest in food which can lead to excessive eating and life threatening obesity. Olivia has been obsessed with food from being 18 months old and we have to manage her diet very strictly. Olivia is already presenting challenging behaviour around food. She feels hungry most of the time but because she does not burn calories like other children, due to her tone she is on a very low calorie diet. The syndrome is known as one of starvation as Olivia and others with PWS are always hungry and never feel full – this will be for the rest of her life.
To name a few other symptoms are diabetes, sleep apnea, scoliosis, poor temperature control and skin picking. We now have her skin picking under control with good management in place.
Olivia and other people with PWS will need life- long support. People with PWS live with their families, residential care or supported living.
Life has been very hard for us all and we have been so unsure of what was going to be possible. We moved to a bungalow when Olivia was one because we didn’t think she was ever going to walk. Olivia is achieving her milestones now but slower than ordinary children. We do a lot of work every day with physio exercises, general exercise mostly on her giant trampoline and lots of work to improve her speech and language.
We have known Olivia’s diagnosis since April 2011 and still have important decisions to make
p Olivia could have growth hormone to improve her tone and to give her more energy. This is a difficult decision as it means an injection every day and comes with many risks. We have decided to leave this for now and see how she gets on but it may be something that we will look at again in the future.
Olivia had an x-ray recently and this showed that she has mild scoliosis which was dissapointing as we couldn’t see a curvature and thought she may be okay we are waiting for our appointment for her to have sleep tests. Olivia has a squint and she wore patches for several hours a day to improve this, she is now ready for the operation to correct her squint but we want to have the sleep tests first due to the general anaesthetic and how this could impact on her oxygen levels.
We have just had confirmation that Olivia will get a statement at school, although this was not going to happen until we got the diagnosis and this was why we really needed the test. We are currently in negotiation about the content of the statement and Olivia’s care plan at school. Olivia has been attending nursery for 2 hours a day but from September she will go for 3 full days a week to build her up to when she will start school in January. This will be a difficult transition as in the afternoon Olivia is very tired.
Olivia is an amazing little girl and without doubt steals everyones heart who she meets. We are so proud of how much she has achieved. She really is a fighter and we hope that this will help her overcome many challenges in the future. Olivia is so caring and a pleasure to spend time with – we enjoy her every day for who she is.
Our wish for the future is for Olivia to be happy and her life to be what SHE wants it to be.
I would like to thank our friends and family who have offered so much support so far and help to make Olivia’s life wonderful. We are very lucky to have you. And on a personal note I would not have got through it in the early days without you xxx
Thank you for taking the time to read Olivia’s story
Olivia’s Mummy – Karry x
For more information about Prader-Willi Syndrome please visit www.pwsa.co.uk