In March 2009 harry was born – perfect. When Harry went for his 2 day check at the hospital they noticed a dimple at the bottom of his back. We were taken aside and told to prepare ourselves as Harry might have Spina Bifida Occulta. This was a big shock and you automatically think the worse.
Between that day and when Harry was about 18 months we attended quite a few hospital appointments. Harry was weak on his right side but we were told this shouldn’t cause any major problems. At 21 months, much to our surprise a few days before Christmas harry got his balance and took his first steps. This was the best Christmas present imaginable.
Everybody was thrilled and he was signed off from the hospitals with the explanation he may have some delays but there should be no serious issues. Harry started nursery and went from strength to strength. He was a little monkey and whenever given the opportunity would climb whether it be over stair gates, fences or falling off the edges of chairs. He was always on the go and getting into mischief and was extremely cheeky. If he was doing something he knew he shouldn’t you could always tell as you could hear a cheeky giggle coming from him.
When Harry got to about 3 and a half years old, we noticed he was unable to do some of the things his peers could, and as the time was passing the gap was increasing. He was still not a strong walker but we thought that was due to late walking, his fine motor skills were quite poor as well. He could also only say 3-5 words and still not had fluent speech.
We attended a paediatrician appointment and harry was diagnosed with global developmental delay and echolalia. We were told as he was delayed in a few areas there could be some underlying condition causing this. We had genetic testing carried out which to our relief came back clear.
When Harry had just turned 4 we attended an occupational therapy appointment who suggested we have Harry's eyes checked as this had never been done. We booked an optician appointment and it was discovered Harry was long sighted. He was prescribed glasses which gave us hope that things would improve.
Just before the summer holidays I got called in by Harry’s nursery teacher. She expressed her concern as Harry was struggling to recognise his peers, even his best friend standing in front of him.
Over the 6 week holidays that followed Harry's sight deteriorated significantly, he had got to the stage of feeling people’s hands to recognise them, even his nan who his seen every day since birth. He had lots of staring into space too.
Harry attended an appointment with an ophthalmologist who examined harry and found he had tunnel vision, particularly in the right eye. This came as a relief as we thought maybe this was why harry had difficulties in different areas. We could now put things in place to help him. He got referred to Great Ormond Street eye specialist to see if they could help further.
A few weeks before Harrys fifth birthday we visited Great Ormond Street who issued harry with his visual impairment certificate. They carried out extra tests and discovered Harry had retinal dystrophy. We thought we had our answer to our problems.
Easter weekend 2014 a letter from Great Ormond Street Hospital arrived.
Upon opening one sentence stood out “we believe Harry could have a Batten type Disease” The first thing we did was google, with our beautiful children sitting on the floor in front of us and I’ll just say it isn’t a very nice result that comes up on the screen.
We had a roller coaster ride of emotions for the next couple of months as tests were rushed through. Harry was given an EEG and to our horror was having epileptic seizures constantly even though his body wasn’t physically showing it. He was immediately put on medication. We then had to wait
On July the 30th 2015 we had a message from Great Ormond street advising they needed to see us without Harry the next day – we instantly knew this was it. They were going to tell us what was causing these problems.
I can remember the day as if it was yesterday. They had found a variant of Battens disease and Harry is only the third in the UK with it. The feeling of sitting across from the consultant telling us to go and enjoy our child while we can will never leave me but it has also taught us to live every day to the full and make them count.