Fatally ill teenager still joyous
Tears are never far from Jenny Barkley’s eyes. She sits on a stool in her small living room on a Waipara farm, surrounded by photos of her beautiful family. Her youngest daughter, Deborah, smiles a thousand watt smile before heading off to be read a book by her sister-in-law.
Deborah was given a death sentence in December – she was diagnosed with meta chromatic leukodystrophy (MLD), a rare genetic disorder where the white matter of the brain and central nervous system degenerates over time.
In medical terms, MLD causes the progressive deterioration of intellectual functions and motor skills, such as the ability to walk.
Affected individuals also develop loss of sensation in the extremities, incontinence, seizures, paralysis, an inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive.
In Jenny’s terms, her daughter is facing a shortened life that will gradually deteriorate to the point that Deborah won’t be able to do anything for herself.
This gifted, joyful child who was reading The Lord of the Rings at age 10 and was reading around five books every week can now read no more than a few sentences at a time. The child that had an extraordinary vocabulary is now average and takes long minutes to grasp at simple words. Often those words are close, but not quite.
‘‘She told me last weekend, when I offered to get something for her, that she would be internally grateful,’’ Jenny said, a sad smile in her eyes. ‘‘She’s in the right ball park but just not quite in the game.’’
Jenny had home-schooled all seven of her children, and she said, looking back, Deborah’s school work had slowed down. ‘‘But you don’t want to draw attention to it; this child is still above average, she’s still excelling. We thought it was simply her move into puberty.’’ Jenny went to a lecture by Nathan Mikaere Wallis and was reassured that this was ‘normal teen stuff’ and Deborah would come through it in her own time.
When Deborah began wetting the bed every night, Jenny knew something else was going on. A trip to the incontinence clinic failed to turn up anything wrong, and when asked by the doctor why she was wetting the bed, Deborah would smile and say ‘‘I’m just too lazy to get up I guess.’’
When Deborah began her Year Nine maths book again for the third time last year – the one she’d got half way through in 2012 – and couldn’t complete the first Deborah would say to me, ‘I’m not as smart as you think I am, Mum’ but I knew there was something going on. She just wasn’t following the pathway I would have expected from her earlier years’’ chapters, Jenny knew something was seriously wrong but a diagnosis was all but impossible to come by.
‘‘Deborah would say to me, ‘I’m not as smart as you think I am, Mum’ but I knew there was something going on. She just wasn’t following the pathway I would have expected from her earlier years,’’ said Jenny. After a number of tests, specialists and appointments, Deborah finally came to the attention of a university lecturer. ‘‘I guess she kind of stood out when they were asking her to group words together; spring and summer equals seasons, that sort of thing. The tester said knees and elbows. After a long pause, Deborah said ‘well, you can’t bite either one.’ Funny, but not funny.’’
An MRI scan finally revealed the truth hiding in Deborah’s skull. Ross, Deborah’s Dad, remembers seeing the image.
‘‘The areas of her brain that should have been white were all grey.’’
Jenny simply remembers being told that there was something dreadfully wrong and it wasn’t treatable.
‘‘From that day, I just cried and cried. I’d go to bed crying and I’d wake up crying. It was incredibly hard for all of us.’’
Jenny and Ross told Deborah one morning, sitting on her bed, that the doctors had finally fig- ured out what was wrong with her.
‘‘She understood. She cried, and was sad that she’d miss her brother’s wedding – not that he’s planning on getting married any time soon. That was the first thing she thought of – she’d miss her beloved brother’s wedding.’’
A religious retreat last month brought Jenny a measure of peace, and she can now see a way forward.
‘‘I wake up singing. Deborah is so filled with joy, how can we not be? It’s still very difficult and I don’t know how we’re going to cope, but we will. She may be healed, she may not.’’
Deborah’s future is far from certain.
‘‘We just don’t know. She might be okay for a couple of years, she might deteriorate quickly. No-one knows. We walked the Able Tasman last summer and she walked 12km a day no trouble at all. Then two weeks later, we went for a walk around Lake Pegasus and she got slower and slower and just couldn’t make it.’’
MLD patients diagnosed in their early teens can live for around 20 years from diagnosis with periods of relative stability and other times of rapid decline.
‘‘There was some discussion about bone marrow transplant to replace her bad cells with good ones, but the doctors say she’s too far advanced for that. The procedure would cause a massive decline that may last for years. We just can’t risk it.’’
The family are preparing to move house sometime in the next couple of months as Ross heads into proper retirement, but they don’t know where they’ll go or how they’ll get there. All they know is that they have to live every single day that Deborah has left. Deborah is surrounded by friends and neighbours who are fully supportive of the family.
‘‘She did the 40 hour famine the other weekend and 10 girls came out to do it with her. They had a wonderful time together and Deborah raised more than $900.’’
The community also gave the family a spring-free trampoline for Deborah earlier in the year.
‘‘I think I’m very lucky,’’ said Deborah, returning from her reading session. ‘‘I have a lovely life. I get to live with the people I love. I’m filled with joy.’’