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My beautiful baby boy has Alzheimer's
By AMANDA CABLE
Last updated at 23:45 24 November 2007
Last week, Joshua Cullip said "Mummy" for the first time. It was a breathtaking moment - and his mother's face lights up at the memory.
She says: "He was sitting in the high chair and clearly wanted more food. I was taking my time, and he started banging his plate - then he suddenly shouted 'Mummy' really loudly.
"It was as if someone had reached in and grabbed hold of my heart. It just physically lurched, and I still haven't got over the thrill of hearing him say my name."
Bitter blow: Joshua with his mother Jodie who is facing up to a difficult future
With that, as if on cue, Joshua says "Mama" again, and explodes into peals of laughter.
Like every first-time mother, Jodie greets each milestone with undisguised joy.
But each new achievement, each cause of celebration, is as agonising as it is gleeful. Because this sweet blonde 13-month-old baby with beseeching blue eyes and a ready smile is suffering from Alzheimer's.
Yes you did hear correctly - Alzheimer's. At some point before his fifth birthday dementia caused by the genetic disease Niemann-Pick C will set in, and this small boy will gradually forget every word he has learned.
It is perhaps one of the cruellest tricks of nature that within a couple of years, the child who now calls so happily for his Mummy will be too senile even to know who she is.
Jodie says: "It's as if everything Joshua says and does will slowly be taken away from us.
"He looks at me with such love, I can't imagine what it will be like for him not even to know me. To look at me in real confusion, with a stranger's eyes.
"He makes me so proud every day. He's just learned to do the rhyme Round And Round The Garden with his chubby little finger going around his palm, and he's so pleased with himself.
"But even then, I think: 'He won't remember this rhyme one day.' It's just another fresh pain."
At the age of 21, Jodie is an extraordinary young woman who remains incredibly calm and composed. When Joshua gleefully puts his plastic toys down the loo and empties out the shampoo, she remonstrates with him, but secretly delights in his mischief.
She says: "He's a little monster. I love to say that because it is just a little boy who gets into mischief. I just want him to stay a normal little boy for as long as possible."
Jodie is currently living apart from Joshua's father Callum, also 21. The stress, she admits, has been hard for the childhood sweethearts who have been together for five years.
She never planned to become a mother so young, but now, despite her own ambitions, she is devoting herself to caring for Joshua.
The news that she was pregnant came as a complete shock. Jodie says: "I planned to wait for a few years before settling down and having a baby.
"I was working in a children's shop and helping to run children's parties when I went to the local family planning clinic for my regular contraceptive injections.
"They do a pregnancy test as a matter of course, but this time the lady's face changed. She said: 'I wasn't expecting this - you are pregnant.' I was utterly stunned.
"I went straight to my niece's birthday party, and sat watching all the little children playing. I couldn't believe I was pregnant. Callum was shocked when I told him but we both decided we had always wanted a family.
"We were just starting earlier than we had planned."
The devoted young couple started to prepare for their baby - decorating their immaculate two-bedroom home in Milton Keynes, Buckinghamshire. But the pregnancy was difficult.
At six months, Jodie went into premature labour, which doctors were able to stop with drugs. During a scan at 33 weeks, Jodie discovered she was expecting a boy.
She says: "I had felt so sure the baby was going to be a boy, and I was thrilled. I knew immediately that I wanted to call him Joshua, and Callum chose his middle name, John.
"I had such wonderful plans for him before he was even born. I used to daydream, and wonder what he would be when he grew up."
At 35 weeks, Jodie's waters broke suddenly and she was rushed into theatre for an emergency Caesarean while her agonised partner waited outside.
"Joshua weighed 5lb 7oz," she says, "but I only saw him for a few seconds, because he was freezing cold and had problems breathing and they needed to get him to the special care unit.
"I could hardly see him under the blankets, and when they took him away it was awful, as if a piece of me had been amputated."
Within hours, Jodie's own condition had deteriorated. Kidney complications during her pregnancy returned, and she was treated in a separate unit, unable to see her child.
The following morning, a paediatrician arrived with the news that Joshua was jaundiced and unable to take milk. He had to be transferred to a specialist baby unit in Oxford, 40 miles away.
"The next two weeks were a total misery," says Jodie. "I was put in my own room, but I could hear all the other babies and their mothers on the ward.
"Callum would go and visit Joshua at the baby unit, then come back and tell me about him, and I felt so jealous. I started to wonder if I would ever bond with this baby I had never seen.
"Finally, after two weeks I discharged myself, I had to see him so badly. I could hardly walk, but I insisted Callum drove me to be with our son.
"I staggered into the special care unit and there he was, the smallest but most perfect baby I had ever seen.
"I just needed to hold him in my arms. Incredibly, almost as soon as I did, Joshua started to thrive. Within hours, he started to feed. His bowel movements became normal and his temperature settled.
"It was as if he knew Mummy had come for him, as if I had somehow willed him to get better."
After two weeks, Joshua was declared well enough to go home. Jodie says: "The doctors said they had to keep an eye on his jaundice levels, but I honestly didn't think jaundice was dangerous.
"I was just thrilled he was coming home and we were going to start our new life as a little family at last."
But after a few weeks, fresh blood tests revealed that Joshua's levels of bilirubin - the pigment which causes jaundice - were high, and he had to be referred to a liver specialist in London.
"As soon as I heard the words 'liver specialist', I started to panic," says Jodie, "but I told myself that the doctors probably just wanted to be safe.
"Joshua had slightly yellow eyes, but he seemed so healthy. He smiled at exactly the right time, and started gurgling and trying to talk to me with his own baby language.
"I couldn't believe that a baby who seemed so bright and so perfect could have something seriously wrong with him."
Baby book: Like other first-time mothers, Jodie meticulously records Joshua's progress
The family were sent to London's famous King's College Hospital, but further tests showed no liver disease. Clearly baffled, doctors asked Jodie and Callum if there was any family history of serious illness or infant death.
Jodie says: "My mother reminded me that my cousin's daughter Maddie had died at three months' old the previous year. We weren't close, I had never met the poor baby, but Mum decided to check the details.
"When she rang back, she said the baby had suffered from a very rare genetic condition called Niemann-Pick C - a form of dementia known as children's Alzheimer's.
"I told the specialist, and she said: 'It's very unlikely, because it isn't hereditary and I've never known two babies from one family suffer from this condition. But it is worth testing Joshua so that we can rule it out.'
"The tests themselves were horrific. Joshua had to have a bone marrow biopsy, a liver biopsy and a skin biopsy at the same time. I wasn't allowed to be with him, I just stood outside in the hallway, listening to his screams and crying my eyes out."
A week later, Jodie received a call from the specialist. She says: "The doctor just said that the tests had come back, and unfortunately they did show that Joshua probably had Neimann-Pick C. The final result, from the skin biopsy, would confirm if this was the case.
"I put the phone down and went straight onto the internet because I didn't have a clue what this condition was. I was absolutely devastated with what I saw.
"I learned that Niemann-Pick C is caused when both parents carry a faulty gene. It affects just one in 150,000 babies and causes harmful build-ups of fatty substances known as lipids in the liver, spleen, bone marrow and brain.
"Callum, myself and our parents all read up about this awful condition but somehow I managed to convince myself that the final skin biopsy would show that Joshua was clear.
"He was a healthy, happy, five-month-old baby who played and gurgled at my feet. I couldn't believe such a beautiful boy had such an evil disease."
Jodie and Callum are sheltered by their close-knit families, and when the young couple travelled to London for the final verdict in March this year, Callum's parents came with them for support.
"We arrived at Evelina Children's Hospital and we all walked in to meet the specialist," says Jodie. "I put Joshua onto the floor and I watched him roll around, playing. Then the specialist confirmed that Joshua had Neimann-Pick C.
"I remember him saying that children like Joshua, who had an enlarged liver and spleen usually pass away by the age of five from liver failure.
"There are some children who survive into early adulthood, but we should prepare ourselves for the worst."
The news was greeted with utter silence. Jodie says: "Nobody could talk. To be honest, I was devoid of any emotion. I didn't even cry, it just didn't feel real.
"I picked Joshua up and we left the hospital and went on a boat trip. It was totally surreal, because Joshua was laughing at the other boats and pointing, and none of us even mentioned the doctor or this awful prognosis.
"I couldn't even think about it. I just wanted to give Joshua a nice day out. It didn't seem fair to be talking about his death when he was having such a lovely time watching the boats.
"Even when I got home that night, I didn't cry. Reality didn't actually sink in for another few weeks. Then one day, I was reading an article in a local newspaper, and it talked about another little child who has Niemann-Pick C.
"It said the condition was known as children's Alzheimer's, because it causes progressive senile dementia, like the type seen in elderly people.
"It was as if my whole world came crashing down, because with the word Alzheimer's, the full implication of Joshua's condition, and his future, became clear.
"I had never known anyone with Alzheimer's but before my pregnancy I had happened to watch a storyline on Coronation Street which showed one of the main characters, Mike Baldwin, suffering from the condition.
"The irony was that I never usually watch soaps, but the sight of this character who kept forgetting things had been so disturbing that I had followed the whole story, watching the gradual disintegration of his mind.
"Now, the image of that shambling and confused man haunted me. Because I realised this is what would happen to Joshua.
"Everything that he learned would be forgotten. Everything he discovered about the world around him would be lost. Every toy that he loved would one day be discarded.
"The thought that eventually he wouldn't even recognise his beloved Grandad was unbearable."
With this, Jodie pauses and takes a painful gulp. "And then I remember that one day he won't even know me."
Joshua's condition is untreatable. A liver transplant is not an option because fatty deposits would attack any new organ. Jodie's beloved baby son is effectively a ticking time bomb.
At some point he will become clumsy, and start to tumble and fall. He will begin to forget where he has put his toys. Words will start to fail him, and he will have difficulty remembering the faces of those who love him.
Finally, he will lose the power of speech and the power to swallow. Jodie fights back tears as she says: "He loves his food so much. Whatever I cook for him, he really enjoys and that is what hurts me the most. The thought that he won't actually be able to swallow or taste the food he loves."
At the age of 21, where the only choices many girls make are where to go out on a Saturday night, Jodie is facing some of the most painful decisions any mother can make, and she does so with a maturity which belies her years.
"I don't want Joshua's life to be prolonged by painful treatment," she says. "I want him to remain happy and comfortable for as long as possible.
"It is hard to think about his death when he is so happy and doing so well. But I force myself to think about the future, for his sake. I want to plan it, so I don't fall apart when it happens.
"I've decided that when he has gone, I want to find a new career, a new chance to make the best of my life.
"I want Joshua to be proud of me, and I want to be the best mum he could ever hope for - even if he is in Heaven.
"I left school at 17 with just five GCSEs. Perhaps I'll go to college and study, maybe find a career which helps sick children. I just know I can't afford to go downhill and waste this precious chance.
"In the meantime, I just delight in everything Joshua does. If he's naughty, I pretend I'm cross but in truth I'm just thrilled that he has this incredible cheeky spirit.
"I video him all the time and then I watch the tapes back so I can savour every moment and enjoy every new little thing he does, time and time again."
Jodie has a baby book, where like many other first-time mothers, she meticulously records Joshua's progress.
There, her neat handwriting recalls, how he first crawled at ten months, pulled himself up to stand at nearly a year.
And last week, she recalls shakily, he said "Mummy" for the very first time. Up until then, he called her Jojo.
She smiles with pride and says: "His little voice is the sweetest sound I have ever heard."
And when it is gone, when Joshua can no longer say Mummy or plant wet kisses on her cheek, it is a memory she will hang on to for ever.
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