Isabel's Story

“Every day I learn from my brave and beautiful girl”

Isabel Annakin is a treasured child, a 9 year old girl, diagnosed at the age of two with a rare condition: Metachromatic leukodystrophy.  Isabel’s Father Neil has given up work to become her full time carer and says that every day he learns from his brave little girl.
“I fell to pieces when I got Isabel’s diagnosis,” says Neil,  “She has a genetic condition which that affects just one in 40,000 people. Both her mother and I were carriers of the defective gene.  At home I looked up the condition on the internet and that’s when my life fell apart.  I realised that slowly but surely I was losing Isabel, bit by bit.”
The condition, which is caused by a missing vital enzyme called arylsulfatase A. This causes chemicals to build up and damage the nervous system – affecting nerves, muscles, kidneys and gall bladder.  The condition is one which worsens over time and requires round the clock care.  Neil changes Isabel’s nappies, gives her liquid tube feeds and five daily doses of medicines. He also sings to her, plays her favourite music and has built her a sensory corner in his living room.
Neil has spent hours researching his daughter’s rare condition and values the help and support on offer from Martin House.  “I can talk to someone who knows Isabel and knows her condition” says Neil.  “That’s invaluable when trying to deal with an illness as rare as Isabel’s.  I don’t know how much time she has left. It could be five months or ten years. All I know is that I try to make every day special.  Knowing that Martin House is there to support us is such a relief.”
Neil adds “I am immensely grateful for the support of the staff and facilities at Martin House. It is the only place that I will leave Isabel overnight. Every day I learn from my brave and beautiful girl.  She has made me a stronger person.  I was so squeamish before, but now I can change a blocked feeding tube without a thought.  She is the best thing that has ever happened to me.  Every moment I spend with her is a real celebration of that. ”