Hannah was born on the 18th August 1996. She was beautiful and perfect, or so we thought!
She achieved all the milestones expected. She started school at the age of 4 and all was good. Around this time I took Hannah to the doctor (I had concerns about the size of her tummy). The doctor referred Hannah to the hospital and after months of tests, she was diagnosed with Niemann Pick Type C. I remember the day of Hannah's diagnosis, so clearly. It hit me like a tonne of bricks, knocking the wind right out of me. We were told to take Hannah home and try and give her as great a life as possible! Even though we were told there was no cure, I've always tried to be positive and hope that a cure would be found, but time is rapidly running out!
Hannah continued in mainstream school until the age of 9, by this time Hannah was struggling to keep up with her peers, so she transferred to a 'special' needs school. At age 12 whilst on holiday in Spain, Hannah had the first of many seizures (another problem caused by NP-C). It took a long time to get them under control, but, thankfully, we had a super neurologist, and they are now under control.
In spite of this dreadful disease. Hannah is a very happy, bubbly girl who always has a smile and who always brings out the best in people around her. She leaves a lasting impression with whoever she meets.
She has started to have walking difficulties and her speech is becoming slurred, she also suffers with dementia - another by-product of NP-C and Cataplexy. In spite of all this, Hannah continues to love and live life to the full! If you measured success by courage, determination, strength of character, sense of humour and sometimes downright stubborness, then Hannah would achieve a degree!
Hannah is at her happiest when she is surrounded by friends and/or family. She is a very sociable person and likes to feel part of the group. She loves music, singing and dancing, in fact, you could say she is a 'party animal'!
Niemann Pick Type C is a very rare, genetically inherited metabolic condition, that is life-limiting and at present, is always fatal. The vast majority of children die before age 20 (and many die before age 10). The disease is caused by an accumulation of cholesterol and lipids (fats), in the liver, brain and spleen, and causes progressive neurological damage, loss of motor skills, loss of mobility, ability to swallow, seizures and dementia.
There is promising research taking place in America at present - fingers crossed!!!