Sitting down on his small chair, a notepad and pen in hand, my seven-year-old son Joshua began to write a list of presents he wanted for his birthday. His eyes were twinkling and a smile began to play on his lips. But in seconds, he frowned, frustration etched on his face. “I can’t remember,’’ he said, beginning to cry.
I bent down to cuddle him, desperate to help. I knew he wanted Disney Infinity figurines, but he just couldn’t recall the names of his favourite characters.
“How about we get out the catalogue and have a flick through the pages?’’ I suggested.
This comforted Joshua and he was soon pointing at the pictures of the toys he was after. “I like that car, I want that plane, ooh, look at that train set,” he went on, excited. Looking at him, I tried not to get emotional, but I had to hold back tears. He was beginning to lose his short-term memory, just like doctors warned us he would.
He knows who we – my husband Callum, younger daughter Poppy and I – all are, for now, but often he can’t remember what he was talking about just a few moments earlier.
He keeps repeating things but mostly gets confused mid-sentence and ends up frustrated.
And although Joshua doesn’t know it, it breaks my heart to think that he’s showing the first signs of what experts call Children’s Alzheimer’s. The neurological symptoms of the disease – slurred speech, short-term memory loss, unsteady walking – reveal themselves first.
Then patients lose the ability to speak, walk and feed themselves, and eventually end up bedridden and tube fed. Chances of surviving to adulthood are very slim and generally victims do not live longer than five years after the first symptom is detected, doctors told us. Horrified, I bit back tears. “My poor baby,” I thought.
We first noticed something was not right with Joshua when his eyes developed a yellow tinge at the age of five months.
Although he seemed otherwise healthy I decided to take him for a check-up, but tests showed no liver disease, commonly associated with yellowing eyes. But when the colour remained even after a week, baffled doctors at the John Radcliffe Hospital, Oxford, near our home in Milton Keynes, in Buckinghamshire, referred us to a hospital in London, where Joshua was subjected to more tests.
We were asked if there was any family history of serious illness or infant death. The previous year my cousin’s daughter had died from severe liver disease at the age of three months. The baby had suffered from a disease called Niemann-Pick type C (NPC). Sufferers lose the ability to swallow, and over time have problems such as an enlarged spleen and liver, progressive neurological disease resulting in disability, dementia, and then death.
It was all just too horrible to think about but the specialist wanted to test Joshua just to rule it out. She assured me she’d never heard of two babies in one family suffering from the disorder as both parents had to be carriers of the faulty gene, making it incredibly unlikely.
Although her words were comforting at the time, back home I was on edge, waiting for the results.
They took three months to come back. The hospital delivered the news to us over the phone. “Unfortunately Joshua does have Niemann-Pick type C. We’ve booked you an appointment in a few weeks’ time, a consultant will explain it to you better,’’ a hospital employee told me.
I could not believe my ears. “It can’t be,” I said to myself. “Joshua can’t have NPC. He can’t be dying.” I had to know more and rushed to my computer to look up information on the condition.
All the sites I scanned described the condition as Children’s Alzheimer’s as it causes progressive senile dementia, the type seen in elderly people. Fear rushed through me – how could our little boy have that? It was just too cruel.
Callum, a landscape gardener, hugged me. “Don’t worry, we’ll get him the best treatment,” he promised. “We’ll see that nothing will happen to our little boy.”
I went into Joshua’s room and watched him sleep. He looked so tiny, innocent and fragile. I couldn’t bear anything happening to him. “I’ll always look after you,” I whispered, bending down to kiss his soft cheek.
It was hard waiting for the appointment. I was desperate to learn everything I could about his condition. “Joshua will begin to lose his short-term memory first and dementia could set in around his fifth birthday,” the consultant said, matter of factly. “He’ll gradually forget every word he has learned.”
A few years after that, he’d be too senile to know who he was, he continued.
He’d lose the ability to talk, walk and swallow. From the first signs of deterioration, we’d have five years at best, he said. Children like Joshua, who had an enlarged liver and spleen, usually pass away from liver failure.
I couldn’t believe what I was hearing. “Is there no cure?” I stammered, choking with emotion. The consultant shook his head. “No,” he said, “although trial drug tests are ongoing.”
Back home I cried and cried and wondered what would happen to my baby. “It’ll be OK,” Callum said. “We’ll try to give him the best we can.”
Joshua, who was eight months old, was happily playing with his favourite toys, kicking his arms and legs. “I’m going to make the most of every moment,” I vowed, hoping that a cure would be found before Joshua became ill.
When he turned one, we celebrated it with a huge birthday party. Joshua enjoyed blowing out the candles on his cake. Over the next few years, he was like any other kid. It was such a joy to see him laugh and play like other children his age. It was so hard to imagine Joshua would ever change as I watched him reach his milestones just like any other child.
He was bright, great at maths and loved writing stories. He enjoyed creating characters that would go off on adventures to the zoo, or defeat monsters, or live in a fantasy land. Whenever we went on holidays, he would be the first to volunteer to perform on stage, entertaining huge crowds. He loves singing and dancing. Once when we were in Florida on holiday, Joshua, who was four at the time, ran up on stage, grabbed a mic and without any shyness sang Twinkle Twinkle Little Star.
Then I discovered I was pregnant.
Worried that the baby might have the condition, I ran a series of check-ups during pregnancy – all the results came out clear. In August 2012, we had another baby, a girl we named Poppy.
As Joshua’s fifth birthday passed without any symptoms, I couldn’t help but hope. We’d been to conventions and met other families at support group meetings – some patients lived well into their teens and adulthood. I started to hope nothing would happen to Joshua.
I was always looking out for the slightest sign, though. Joshua has always been popular at school and would play with all his friends. So I wasn’t surprised when he started coming home about a year ago and saying: “I’m tired, Mum.” He soon began to tire easily and couldn’t run around a lot. “Why can’t I play games like my friends do?” he asked. I gulped. “Maybe your legs are just tired,” I said, but I knew it was more than that. He began coughing whenever he drank juice because he was finding it difficult to swallow.
One Sunday morning, I saw him struggling to write a story – something he used to enjoy doing. His fingers started to curl up and the story ended up being a jumble of random letters... like he was tapping randomly on a keyboard. But surprisingly, he could read the whole story back to me even though the paper only had a string of letters.
The same month, last October, I realised that he was finding it very difficult to eat. He’d also lose his balance when he was sitting down and ended up on the floor – a common problem with children who have this condition, I discovered.
Assessments revealed he had poor core muscles. He was given a special chair to hold up his body when it flops over. Then in December, I saw him struggling to make that list of birthday goodies that he wanted. His brow was furrowed and he seemed to be getting irritated – you know that feeling when you’re trying to remember something and it’s on the tip of your tongue? Experts call it working memory loss, and it’s the first step to a downward spiral.
I helped him complete his list of gifts but I knew his condition was worsening. He began to get frustrated and exhausted and would fall into bed as soon as he got home from school.
We’ve never told him he’s ill – he’s too young to understand – but he’s realised there’s something wrong. When he stumbles or cannot remember what he’s trying to say, he cries out, “I’m stupid.” I can only hug him and say, “Don’t say that, Joshua. You’re not.”
I do everything I can to assure him he’s anything but stupid. We’ve got him an iPad so he can speak his stories into the computer, rather than write. We praise him and tell him how amazing he is for even the smallest thing that he does right.
I know he’s frustrated that he can’t keep up with his friends and I wish there was something I could do for him. When Joshua was a baby, the doctors told us to make the most of our time with him. We’ve made every day count. I film him and photograph him constantly – he’s sick of it! And because he was diagnosed so early, I’ve been able to appreciate every little moment of his life.
Poppy’s been great for Joshua. He adores her and she’s fascinated by him. He’ll do anything for her – right now she’s unwell and he got her a quilt and tucked her in on the sofa. When she was learning to walk, Joshua sat with her for weeks, encouraging her to take her first steps, moving her toys just out of reach so she’d take a step.
Listening to them laughing together is priceless. I love filming them because photographs won’t capture that laughter and I want Poppy to hear it when she’s older.
Joshua used to be so excited to go to school. Now it’s a challenge just to get him dressed. The school teachers and minders say that his spark is slowly fading. “He seems to be losing confidence and his energy levels are very low,” a teacher told me. The less he can do the less he wants to be there.
Some days, though, he’s excited. He loves general knowledge and enjoys history and when he’s learned something interesting he tells me all about it as soon as he returns home. That’s when you know he’s had a good day. It’s only subjects such as maths or times when he has a lot of writing to do that tires him – because his brain just lets him down.
To help him cope with the studies, the school has granted him 30 extra hours’ help a week. We have also been advised to offer him some therapies. He goes to a specialist school one day a week to do hydrotherapy to strengthen his muscles. He loves it – it’s difficult to get him out of the pool.
I realise that mainstream school is becoming a real struggle and so he may begin to move over to a special school.
He’s finding it hard to swallow now, and he has to drink through a straw. We give him high-calorie foods to ensure he does not get run down too easily.
If he gets chest infections – which is very likely for patients with this condition – he may need a line to his stomach to be fed. But we are hoping that won’t happen for ages.
Sometimes he asks me if he can invite some of his friends over to play. He loves to see them build on Minecraft. He gets involved with them playing that and with his Disney Infinity models.
Though his condition is incurable, he’s about to start a trial drug that might slow the symptoms down. There isn’t enough research into the effects of the drug to know for sure, but after much deliberation, we decided we’d kick ourselves if we didn’t try.
But it’s all about Joshua’s quality of life. If it doesn’t improve, we’ll take him off the drug.
We need Joshua to be well for as long as possible – when new drug trials in the US prove successful, they’ll only roll it out to healthy patients. As Joshua’s condition deteriorates, he may no longer be considered for future trials. All we can hope for is a drug that reclassifies his disorder from terminal to chronic illness.
A year ago, we set up Joshua’s Hope, a charity, so we and our friends and family could raise money for the Niemann-Pick Disease Group (UK).
We fundraise for further research as that’s all we can do. We’ve raised £5,000 (about Dh30,800) in the last year through bike rides, wrestling matches, fire walks...
Joshua is involved in the charity too – he likes to help out with anything he can. At a recent charity wrestling night, Joshua dressed up and stood at the door for the ticket admission – and asked everyone for double the money! He has helped with cake sales too. He likes to be involved when he’s feeling up to it.
Friends and family have been so generous – my friend Laura is shaving her head to raise money for us; and my sister asked for donations in lieu of gifts for her upcoming wedding.
I video Joshua and then I watch the tapes back so I can savour and enjoy every new little thing he does, time and time again. Because we know our days with Joshua are precious, I want to make sure we don’t miss a thing.
Jodie O’Grady, 28, lives in Milton Keynes, in Buckinghamshire, England