Lilly’s Story

Lilly was born by planned C section in May of 2009 and was a healthy normal baby. There were no complications during birth. From birth to two years old everything seemed perfectly normal, we had no reason to suspect hard times were upon the horizon. Lilly took her first steps at 10 and a half months, the same as her older sister Melissa, but never really seemed to progress past the wobbly stage. She joined a nursery shortly after her second birthday and we were told by staff at the nursery that Lilly didn’t seem to be quite as steady as other children of her age, and given that both myself and my wife had noticed this too, we thought it best to have her checked out by a medical professional. Lilly was referred to a physiotherapist and upon examination, the conclusion was that Lilly was perfectly normal.

In June 2012, we as a family decided to try our luck at immigrating to a new country. We wanted both of our children to experience a different way of life, a different culture and decided that New Zealand would be our destination. The laid back way of life and outdoor activities appealed to us the most. Lilly, then 3 years old joined a new nursery in New Zealand. Being still quite wobbly on her feet, the nursery staff mentioned that Lilly seemed to be a lot more unsteady on her feet than the other children. She would bump into things and often fall over. We as parents again decided to investigate what could possibly be wrong with our daughter, only this time my wife took to the internet to try and find answers. She typed in “3 year old with wobbly legs” and came across an article about a little girl, also from the UK who had a condition called Ataxia Telangiectasia.

A lot of the symptoms described by the parents were remarkably similar to Lilly’s, and one thing that stood out was a reference to the condition that made people appear like they were drunk, and people had often joked with us asking if we had been feeding Lilly wine. Upon reading this article, we decided it was too similar to ignore, but as we were in New Zealand on work visa’s, we couldn’t afford the medical costs so just 4 months after we had arrived, we decided to return to the UK to have Lilly checked out, now having a name of a condition to ask the doctor to rule out. We went to see a GP the day after we arrived back in the UK, and were immediately referred to a paediatrician, as the GP agreed it looked like she was showing signs of Ataxia. At first the paediatrician refused to even acknowledge the possibility of A-T, he said the condition was too rare, but after some persuasion, agreed to investigate further and sent Lilly off for an MRI scan, this which came back normal. Lilly also used to jerk a lot in her sleep so the doctors then decided to send her for tests for epilepsy which also came back normal.

A couple of months after we arrived in the UK Lilly started to dribble, so again still convinced Lilly had A-T I decided to contact the A-T Society where I was advised that the paediatrician could not rule out A-T by a physical examination and an MRI scan, it would need to be a specific blood test. We decided to go back to our GP and insisted that they conduct this specific test for A-T, the GP Agreed. On November the 5th 2013 we finally got the diagnosis and my suspicions would prove to be correct, Lilly did indeed have Ataxia Telangiectasia, a particularly rare variant of A-T called MRE 11, apparently there are less the 30 people worldwide with this particular condition. So just over a year after we read the article about the little girl in the UK with A-T, we got the diagnosis and it’s thanks to them for having the courage to raise awareness after receiving such devastating news, that we then managed to identify and diagnose what was wrong with our beautiful little girl, we also are grateful to have more time to understand the condition, and make every moment for Lilly count.