Touching Lives - October 2011
How a supporter's gift helped little Jack
One man’s gift is funding important research on the genetic cause of childhood blindness. This has given one family some much-needed answers about their young son’s condition.
Little Jack proudly names the colours on the pages while his mum reads a book to him, just like any other toddler learning his way in the world. But to mum Sally it’s a miracle as Jack was born blind. Now age two, Jack appears to be able to see more colours and shapes than was previously thought, but this cruel condition means his eyes are extremely fragile. His parents live in constant fear he will damage them and permanently lose the little sight he has. Jack was born with a genetic condition called primary aphakia, which was the result of both Sally and husband Al carrying very rare changes in the same gene.
Sally says Jack’s condition came as a shock. “I had a totally healthy pregnancy. Jack was our second child and we had no family history of any eye problems. The doctor did a routine eye check just after he was born and thought something was wrong. They then took him to a darker room to check again. At one day old he went to see an eye specialist at Lincoln Hospital. “The doctor referred us to Great Ormond Street Hospital (GOSH) when Jack was just two days old. Jack’s first week was a stressful week where I should have been enjoying my new baby, celebrating and recovering. Instead, it was our worst nightmare.”
At GOSH they did a hi-tech ultrasound scan with specialist equipment that confirmed Jack had no iris in his eyes, no lenses and his corneas were very thin. It was also confirmed he had glaucoma, which was putting pressure on his eyes and meant he needed operations. Jack has been coming on leaps and bounds in his learning, thanks to a lightbox. Sally says it is his favourite item in the world and they spend hours playing on it together learning his letters and shapes and colours.
She says: “He loves books. He knows all the stories off by heart and sometimes he sits on his own and just turns the pages and tells the story to himself.”
“We have accepted the fact that Jack is registered severely sight impaired but for me it’s the uncertain future of his eyes that haunts me every single day. We still have years ahead of us of hospital visits to London and everything that goes with that.” The family found out what caused Jack’s condition thanks to Dr Lily Islam, who is determined to find better ways to tackle childhood blindness. She is searching for genetic changes that can cause blindness using the Walkinshaw Research Training Fellowship, a grant funded by Gordon Walkinshaw’s generous legacy to Action Medical Research.
Sally says: “The research results helped us to stop blaming ourselves. I thought I must have done something wrong during my pregnancy. It did raise questions which we were able to ask Lily, such as are we likely to get glaucoma as we get older because we carry this gene? “We also worry about the boys and that they will pass it on to their children in the future, but it is good to know about it. It is amazing that such a miniscule thing as one gene has such a massive impact on his life.”
Please leave a gift in your will Jack’s family found answers thanks to research funded by the legacy of Mr Walkinshaw. He approached the charity in 2004 and told us that his dream was to make a real difference in the field of genetic research. We set up a Research Training Fellowship in his name, specialising in genetics. His funding has already made such a difference to Jack’s family and to understanding this genetic condition. Once you’ve looked after your family and friends, please think about leaving a gift in your will to Action Medical Research. By leaving a legacy you can make a promise to give tomorrow, whatever your circumstances today. You can be sure that whenever your gift is received we will use it to tackle the most critical conditions affecting babies and children at that time. Please help us continue searching for better treatments and cures that will stop children like Jack suffering in the future.
To find out more about leaving a gift in your will to Action Medical Research, please call Jane Tarrant in complete confidence on 01403 327414 or visit www.action.org.uk/legacy