Welcome About Battens disease Case histories: Nathan and P.J. Milto Natalie Aurelio Bobbi and Danni Shone Michelle K. Research Jordan in the media Fund-raising events About the Trust How to donate Contact us Photo gallery Related links Registered charity no: 1098918		Michelle K., New Zealand Born 29th March 1991, died 26th November 1996 I’m Sharon K. Mine is not a typical story, with not one, but TWO, unrelated genetic/chromosomal afflictions in one small child. Michelle was born at home, the homebirth I planned and dreamed of but she was not the baby I dreamed of. When I saw her face, I thought, “She looks like she has Down Syndrome... no... that doesn’t happen to me! It only happens to other people.” When a paediatrician came to our home to confirm it the reality hit me. I was in shock. We had to transfer to hospital because Michelle was having difficulty feeding, and the next day I was told that Michelle had a major AV Canal heart defect and might go into heart failure in the next few days. I was devastated that I might lose my baby. She survived the next few days, and many more to come. I spent seven weeks establishing breastfeeding with her and her health was very good considering her heart defect and weak immune system. By age one, Michelle was a happy, bright, responsive, healthy-looking baby, full of mischief and giggles and we all loved her dearly... At the age of 15 months, she got viral bronchial pneumonia, and after that her health declined. She was on antibiotics constantly and I couldn’t take her outside the back door for longer than five minutes without her developing a cough, from breathing in cold air. I was virtually housebound with her and found it very difficult taking my older daughter to and from school and to other activities. After heart surgery, Michelle went ahead in leaps and bounds. Her health improved dramatically, she learnt to walk, sign about 30 signs and even say a few words. She could climb, turn pages of books, and play with her sister, who adored her. She loved music, would ‘play’ the keyboard and ‘sing’ along with me. About 11 months after heart surgery she had three epileptic fits, a month apart. We assumed that it was a result of heart surgery and wasn’t anything too major to deal with compared to what we had been through so far. Michelle turned five and was having difficulty sitting up, was often spaced out and unaware, she could no longer walk or crawl, her hands shook, her body had a constant tremour, she couldn’t feed herself anymore, and often choked when drinking. Her vision appeared to be deteriorating and her seizures could not be controlled easily by medication. She wanted to stand up and would sit crying out in anguish when she couldn’t. After 19 months of uncontrolled seizures and developmental regression, we saw a neurologist who wanted to rule out a rare genetic disease, Batten Disease. Michelle had had a brain scan, an ECG (electrocardiogram), and worn a halter monitor to make sure her heart wasn’t causing her seizures. Next she had an ERG (electroretinography). That showed that she probably had Batten Disease. She then had a rectal biopsy which confirmed the devastating news that, yes, Michelle had Late Infantile Batten Disease. Over the next six months, Michelle continued to deteriorate. She turned back into a helpless baby. She was losing her ability to swallow. I did everything I could for her, there is nothing I can think of that I didn’t try. I was determined to find a miracle for her, but who was I trying to kid? Finally, all I could do was love that little child and hold her... ...and I did ...and I said... “Go to the Angels” and she did... as soon as I said that... Michelle just died in my arms. For more information about Michelle click here.