Amelie is 8 1/2 years old and she lives with her family Anne (Me – Mum), Jon (Dad) and big sisters Abby (11yrs) and Georgie (15yrs) in Elland, West Yorkshire. She weighs 16kgs (approx 35lbs/2.5 stone) and is about 110cms tall (approx 3’6) which is about the average size of a four year old in height and a three year old in weight!
When people ask me “What is wrong with Amelie?” – I find it difficult to give them a straight answer! This, in part, is due to the number of problems she has but also due to people having no idea what the medical terms actually mean!
So I hope Amelie’s website can help everyone who is interested, understand a bit more about her conditions and what care she needs as a result of them.
I sometimes feel like a bit of a fraud where Amelie is concerned because apart from her size, when she isn’t hooked up to her feed tubes, or in her wheelchair and has all her clothes on – you wouldn’t think there was anything wrong with her! I find myself justifying to many people, why I don’t work and need to be a full time carer for her!
In the early days, I did work but found it a struggle juggling hospital appointments and operations in and amongst. Over the years, Amelie’s little body has revealed many complications, so now, although it’s hard to accept sometimes, we are not that surprised when the doctors discover new problems! All of this means numerous trips in and out of hospital, not managing full days at school and me not being able to commit to a paid job! I have a full time unpaid job instead!
So here, in list form, are all the things that Amelie has to live with! These are the medical terms for everything and I will endeavour to explain them in more detail on the “Info” page which you can find in the drop down menu at the top!
- Russell Silver Syndrome – MUPD7
- Complex Scoliosis of the spine with lumbar hemi-vertebrae
- Significant hip problems – Congenital dislocation of the hips
- Fasting Hypoglycaemia
- Gastric Reflux – had two nissens fundoplications
- Neurogenic Bladder & Bowel
- Poor weight gain / Nutrition problems
- Recently diagnosed gynaecological problems
Even though Amelie has to live with all of these things – the majority of the time when she is out and about you wouldn’t even know! She is such a happy, determined and spirited little girl and faces everything that she is dealt with with such resilience – it never gets her down and she hardly ever complains!
More tests in Leeds revealed more problems and an even higher chance of Amelie having Edward’s Syndrome and a termination was offered. We refused.
Three years prior to Amelie I gave birth to twins Abby & Ethan, Ethan sadly died 4 hrs after he was born – for reasons we do not know to this day. He remains a much loved part of our family but losing a child was so very real to us and even having an amniocentesis was a huge risk we weren’t prepared to take at that stage.
We waited until Amelie was 28 weeks gestation before having the amnio. The result was negative to Edwards Syndrome but we were told that our baby may have another syndrome due to her ‘large’ head, small body and spinal problems.
Amelie was born on 16th August 2007 weighing a healthy 5lb 9oz with a mop of dark hair, all fingers and toes intact with no ‘obvious problems’.
Amelie seemed to ‘choke’ a lot after her feeds. At a week old Jon found her navy blue and not breathing in her moses basket. It transpired that she had refluxed and the milk had got stuck, blocking her airway. This happened a lot – fortunately not always so severe.
At 6 weeks of age a routine scan of her hips detected that both her hips were dislocated and a referral was made to the Orthopaedic Surgeons in Leeds.
At three months she developed a hernia and had a surgical repair at St James’s hospital. By this time her weight dropped to 4lb 10oz so she left the hospital in Leeds for a long stay in Halifax Hospital to investigate her weight loss.
A nasogastric (ng) tube was sited and Amelie received ‘top up’ feeds to get more calories into her. She was put onto bottle feeds but took her milk so slowly it would sometimes take an hour to get 10mls into her! The ‘reflux’ symptoms carried on and Amelie always looked to be struggling with swallowing, also appeared to be ‘choking’ on her milk. At night she sweated so much we would have to change her sheets!
A 24hr ph study and video fluroscopy confirmed severe gastro-oesphageal reflux and so preparations were made for her admission to have a Nissens Fundoplication and insertion of a gastrostomy. (This was to tighten the muscle at the top of her stomach so the milk would stop coming back up!)
At 8mths she had her first operation to correct her hips which was initially thought to be a success. Three more operations followed, each with a completely immobilising cast.
Amelie did not speak for ages (just smiled and giggled a lot!) and so we began to teach her Makaton (a form of sign language). She picked up little bits but got the gift of the gab after she turned 3yrs of age!!
Amelie’s weight and height did not increase after the insertion of her gastrostomy and so was referred to a geneticist. Blood was taken for DNA analysis with a vague hope we may get a diagnosis, although it could take up to a year. It was a frustrating time for us all – so many visits to various doctors, so many operations, tests and x-rays but throughout it all, Amelie continued to enchant us with her big blue eyes and infectious giggle.
The answer came in January 2010 when her DNA results showed a change in her chromosomes. The diagnosis was a form of Primordial Dwarfism, Russell Silver Syndrome and the lack of interest in food and poor weight gain came hand in hand with this. The hip and spine problems remain a mystery – her DNA is still being analysed.
Amelie several weeks old
At three months
First hip operation