Georgia's Story

Driving home, the rain pounding relentlessly on the windscreen only enhanced the sombre mood inside the car. I felt numb, sick and angry all at the same time, a roller-coaster of emotions dominating my entire body.

Just beside me, my husband was driving, staring, fixated on the windscreen. We couldn’t speak, just embroiled in our own living hell, the outside world passing by in a blur. I wanted to reach out and help him, but I felt paralysed and helpless, not even able to help myself. Only 15 minutes earlier, we’d been sat in the consultant’s room and told that our little girl was going to die. As simple as that, and there was nothing we could do about it. Nothing, except to watch and wait and just ensure that she is comfortable and not in pain. Feeling out of control and wanting to die, this was a living nightmare. This surely must be the worst day of my life.

Prior to this appointment, there was a lot of history, involving endless hospital and clinic visits, all kinds of professional people involved, GPs, consultants, psychologists, all doing their best to find out what was wrong with our little girl. Of course, we knew something was wrong, but nobody knew exactly what, which was extremely frustrating.

Georgia was born in 1995, by Caesarian section, due to her being in a breech position, weighing a healthy 8lb 2oz. In the early stages of pregnancy, a test for Down’s Syndrome had concluded that my baby had a 1 in 54 chance of having the disease. We were told that this was extremely high, and after much thought and deliberation, decided to go ahead with an amniocentesis to get an exact result. Luckily, the result was negative and we were to have a healthy baby girl. We were ecstatic and both sat crying in the waiting room, clinging to each other, so relieved that our anguish was over. Looking back now, with hindsight, it hadn’t even begun…

From a baby to toddler stage, Georgia was considered ‘normal’ and did everything as she should’ve done and reached the essential milestones. I already had a son, so I knew what to expect. Our concerns with Georgia began when she was approximately two years of age. She wasn’t talking as well as my friends’ children, she was terribly frightened of people and was extremely clingy. This was often put down to the fact that she may be very shy and she had an older brother, who would do the talking for her! Our concerns grew and so did the endless appointments and tests. For three years this went on, with nothing conclusive and during this time, Georgia was deteriorating. I could write a book about our life and experiences during this difficult time.

In 2001 Georgia was diagnosed with Sanfilippo A. Finally, after many years, we knew what we were dealing with. In a strange way, it was such a relief, as not knowing what was wrong is far worse. There is no cure for Sanfilippo disease and Georgia is not expected to reach adulthood. She has lost all her speech and has really slowed down. She can no longer run and although she is still mobile, she is very unsteady on her feet and cannot walk far as she gets too tired. Also, she has lost many other functions, for example, feeding herself and in time may need to have a gastrostomy as she will be unable to swallow. However, she is beautiful, adorable, funny and extremely happy. We know if there is something wrong with her, as she stops laughing. To hear her laughing is such a joy and something that I cannot imagine being without.

Throughout all of this, people ask how we cope. To be honest, I really don’t know, but the strength comes from within and from the support of family and friends. However, the most important thing in our lives is Georgia. She is our angel, our shining light. She is our inspiration and she has made us realise what is important in life, and now we just have to treasure her for the time that we have left with her.

Click here to read more about Sanfilippo Disease.