“My name is Mia and I am 12 years old. I live with my Mum and Dad, sister Skye (9) and brother Josh (6). We have a dog called Toby. I have lots of interests including riding, on my special tricycle, swimming, cooking (my favourite) but most of all I love being with my friends and I have many!!
Just after my first birthday my Mummy and Daddy found out I had Type 3 Gaucher disease.”
Coming to terms with and coping with Mia’s condition were very challenging in the early days to say the least. She presented with classic neurological symptoms. Stunned, we were hurled reluctantly, into a world totally unfamiliar to us. (Nothing really prepares you). Hospital appointments which included, procedures and investigations became routine. We made frequent visits to Great Ormond Street and our local hospitals. In addition we saw physio -therapists, occupational therapists, dieticians, speech and language therapists etc. We undertook training quite early on so that we could give Mia her enzyme replacement therapy at home. We felt it was important to keep hospital visits to a minimum and keep life as normal as possible. The biggest challenge for Mia and our family came when, at the age of three she was invited to participate in a drug trial. It was a very stressful and as it turns out unsuccessful experiment.
Mia is affected by Gaucher in many ways. She has gross and fine motor skill problems due to stiffness and her general body tone. She is ataxic, has processing difficulties and has saccadic initiation failure (she can’t move her eyes from side to side). She had choking episodes and frequent chest infections when she was younger but has made great improvements in these areas. Mia whilst compromised is bright and very sociable. We’ve noted how she brings out the very best in everyone she meets. “She’s a real inspiration” we’re told frequently.
A few years ago a fourteen year old friend cycled from Hayling Island to Paris in order to raise awareness of Gaucher disease and money for a tricycle so that Mia could join us on bike rides. We are privileged to have friends who have run marathons, rowed oceans, held tennis tournaments, and a charity ball. Friends of Mia have made and sold cakes to raise awareness and funds to try to help beat this disease. We’ve met some incredibly special people. In particular families who like us have had to somehow draw on and identify the positives from an unfortunate situation.
Mia writes; “I now go to a school called St Anthony’s in Chichester which is about 25 minutes from my house. It is a school for people with moderate learning difficulties. I am doing so well there. In my first two terms I have won special awards for my achievements. I am very proud of this. It has an amazing indoor swimming pool; it has good sports facilities and a lovely art room. My favourite lessons are art, drama and cookery. I can do all these things but I find PE the most difficult. This is because my balance is not good and I find it difficult to run but I always try my best at everything. My mummy says that although I have an unfortunate condition I am lucky because I am such a positive person with a great attitude to life and get so much enjoyment from everything I do”.