Wriggling into my jeans I grinned. “Nearly eight months pregnant and I can still get into them!” I thought. I was delighted, but when I told my mum Bev she frowned. “The baby could be a bit small,” she said.
At my next routine check-up the doctor was also concerned. “Your baby isn’t growing like it should. We should deliver as soon as possible,” he said. It seemed Mum was right.
A couple of days later, I went into premature labour and had my baby, a little boy, Jasper.
“He’s tiny,” my husband Paul, 37, gasped. He was just over 2kg. “I’ll get him home and fatten him up,” I smiled. But Jasper had jaundice and being small and premature he had to go into the special care baby unit.
Though he fed normally he didn’t put on much weight. I’d noticed his right thumb didn’t straighten out properly either.
“It’s nothing to worry about. Physiotherapy will fix that,” the doctor assured me. After ten days we were discharged.
Relieved, I took Jasper home. This was our first baby, and I wanted to do everything right, but despite my efforts, Jasper was still tiny and so was diagnosed with failure to thrive. “Premmie babies are often a little behind, don’t worry,” everyone kept telling me.
As the months passed, Jasper grew, but at a slower rate than other babies. He was always about a third smaller, though developmentally just the same. But because of his size, we saw doctors at Princess Margaret Hospital in Perth, West Australia. One said he thought Jasper’s head was a little small, and because of his wonky thumb and slow growth, we were referred to a geneticist. “Combinations of things like this can be signs of a genetic condition or nothing at all,” the specialist said. “We’ll run some blood tests to find out.”
They failed to show any problems so the doctor ordered more. Again, everything came back fine. Jasper was hitting the usual baby milestones so Paul and I weren’t too worried. He sat up right on cue, crawled and when he turned one it was like a switch flicked and he started walking. The specialist wanted to carry on testing though because he was still tiny.
Every few months he was tested for some other genetic condition. Nothing was showing up so we weren’t too concerned. Jasper, by now a toddler, wasn’t keen on the tests and usually screamed the place down. “Sing Rudolph,” he’d sob. If I sang Rudolph the Red-Nosed Reindeer that calmed him down.
“You’ve got to have tests because you might have some bugs in your blood that could make you sick,” I always explained. By the time he turned three, Jasper was still a third smaller than all his little friends, but other than that a typical little boy. “He’s a terror!” I’d joke. Noisy and boisterous, Jasper was a chatterbox and into everything. I’d be grateful when Paul came home so I could rest.
The news was grim
Jasper was still being tested, and then he started kindergarten. I dropped him off for his first day then went shopping with Mum. Just as we arrived home, the geneticist rang.
“We’ve got a diagnosis. Can you come in next week?” he asked. He mentioned the name of a condition with a funny sounding name.
I’d never heard of it and typed it into Google. Nothing came up. “Can you spell it for me?” I asked. “Fanconi anaemia,” he said before hanging up. A page loaded and I started reading. My heartbeat suddenly raced. Tears sprung into my eyes.
“Oh no!” I sobbed. Blindly, I punched in Paul’s number. “It’s awful,” I wept.
“What’s wrong?” he asked. I was sobbing hysterically now.
“Jasper’s going to get cancer and he won’t live to see 20,” I cried, reading the details of the condition out loud to him.
It was grim news. Fanconi anaemia is a genetic defect in the proteins that are responsible for DNA repair. Up to 75 per cent of sufferers are short, have abnormalities of the skin, head, kidneys and eyes, and the majority develop cancer, usually leukaemia. If that wasn’t bad enough, 90 per cent suffer bone marrow failure by the age of 40, and many die by the age of 30.
“I’m coming home,” Paul said. I was still crying when he burst through the door. “It’s when, not if,” I cried to Paul. “Why us?”
But it was sheer bad luck that Jasper had the condition. About one in 500 of the population are unaffected carriers, but if both parents have it, their child has a one in four chance to have Fanconi. “Both of us carry it. What are the odds?” Paul said. We’d had no idea and no one in our families had ever suffered from it.
We didn’t tell Jasper much. He was too young to understand. “The doctors say your blood is very special,” I said. Paul and I went to see the geneticist.
“Look, there’s no cure,” he said. “But Jasper is healthy at the moment. Long term he’ll need a bone marrow transplant but for now I just want to keep a close eye on him.”
It was really all we could do, apart from check-ups every three months. The geneticist had only been able to diagnose Jasper because he’d spotted something unusual in one of the results – there is no catch-all test for Fanconi.
“We just have to wait until he gets sick and then get a bone marrow transplant,” I cried back home. Mum was brilliant. “He’s not sick yet so let’s hope for the best,” she’d say. But I couldn’t switch off. I wouldn’t let my boy die.
Looking into it we discovered that going on the transplant list might not save him. There were few donors and no guarantee of a match. And not all matches were equal either. The best match of all was produced by cord blood from a sibling. But Jasper didn’t have siblings and if we had another child there was a one-in-four chance it could have the condition too.
A ray of hope at Camp Sunshine
The news was all pretty gloomy. But then we joined an on-line support group and learned about Camp Sunshine, an annual getaway for the families of Fanconi sufferers in Maine on the East Coast of America.
“You get to meet experts and hear all about the latest research as well as meet other families with the condition,” I told Paul. He didn’t hesitate. “We should go,” he said.
That August we flew out to the States. We met adult sufferers, in their 40s, who had stayed healthy and heard about all the medical research that was being done. Some of the healthy middle-aged sufferers had had bone marrow transplants. Others were just lucky and hadn’t developed any other symptoms, but no one knew why because so little is known about the condition. Jasper made lots of friends.
One of his closest was Wesley, a fellow sufferer who was four, the same age. Rushing up to us with Wesley in tow, Jasper gushed, “Mum, we get to go canoeing and swimming!” He loved it.
“I feel like there’s hope,” Paul said. We’d always wanted a sibling for Jasper, but after the diagnosis we were terrified of passing his condition onto another child.
“We could always try IVF,” Paul suggested. The process could screen out affected embryos. It wasn’t fail safe though.
We couldn’t decide what to do, and over the next two years we focused on Jasper and mulled over IVF. In August 2009, we decided to go to Camp Sunshine again.
Jasper couldn’t wait. To him it was a chance to run around with his friends. “It’s secret,” he’d say when we asked what he’d been doing.
Back in Australia I missed a period. “Paul, I think I might be pregnant,” I trembled. “I’m scared. What if this baby has Fanconi too?”
Paul took a deep breath, shocked. “OK, we’ll cross that bridge if we come to it,” he said calmly. My doctor confirmed I was about eight weeks pregnant. When I worked out my dates I realised our baby had been accidently conceived at Camp Sunshine. I was still terrified but part of me felt maybe this was meant to be.
Wondering whether to have my unborn baby tested for the Fanconi, I booked a scan. There was a special test, like an amnio, which we could have. But the moment I heard my baby’s heartbeat I decided against it.
“There’s always a risk to the baby with tests,” I told Paul. “And even if our baby has got Fanconi I will still love it.”
He grinned. “If we have two kids with Fanconi we’ll deal with it,” he said.
Now that I was pregnant there was a possibility that if our baby didn’t have the condition and was a match its cord blood could be used to save Jasper. Cord blood can substitute for bone marrow in transplantations and performs just as well. The doctor explained cord blood was ‘naive’ in that it didn’t know what its function was. Rich in blood-forming stem cells, it would adopt the role of bone marrow.
“It’s not that simple though,” our doctor said. “The law doesn’t allow you to specify who gets the blood.” That’s because they feared if everyone could ‘direct’ their donations there might not be any cord blood available for emergencies because it was being held in reserve or being given to someone else.
We were outraged. “I’m having a baby who could save Jasper’s life, but the law won’t let us use it,” I cried to Paul. We might not be able to use our baby’s cord blood but a stranger could.
“Don’t worry. I’ll sort it,” Paul vowed grimly.
He contacted State and Federal health ministers but got a polite brush off.
“If I don’t win this fight one day I might have to sit down with Jasper and say, ‘Sorry son, we can’t use your sibling’s cord blood to save your life because we’re not allowed to say who gets it.’” He kept fighting, going to meetings with politicians and health officials and writing letters. “When the law preventing directed donations was drawn up in the Nineties the benefits of sibling donation were not as well understood,” he told me.
“Now we know the survival rate from sibling cord blood donation is much higher than other donors. That’s what I’ve got to make them see.”
Paul refused to give up the fight
For five months he spent all his spare time lobbying anyone he could think of to help. Finally, in April 2010 Paul, then working away at a remote mine site in logistics, called me at home. “Good news,” he croaked. “I’ve just heard that because of our extraordinary circumstances an exception is going to be made in our case. We can use the cord blood.”
The national Therapeutic Goods Authority, responsible for policing donations, had made the exception. It was like Jasper had been thrown a lifeline.
“This cord blood is liquid gold for us,” I told Paul. So I banned him from cutting the umbilical cord. “You might stumble and spill some blood,” I said.
We didn’t know that our baby wouldn’t have the condition too, but as the odds were one in four, we remained hopeful. On May 4, 2010, our daughter Molly was born naturally. The doctors immediately took the cord away, harvested the blood, which was then stored in a freezer. When she was a week old she was tested for Fanconi anaemia and to see if she was a match for Jasper. An anxious six weeks passed while we waited for the results.
Finally, I got an email from the geneticist and burst into tears. “It’s good news,” I told Paul. “Molly doesn’t have Fanconi and she’s an almost perfect match for Jasper.”
“Thank goodness,” Paul gasped. Jasper was even more excited. “Molly’s blood can stop me getting sick,” he shrieked, running around the house. Now he had the best possible chance when that happened, though the threat of cancer remained.
He’s healthy now, but there’s a good chance he could need a transplant in the next few years – we have Molly’s blood available to help.
I know two other kids in West Australia with Fanconi, aged nine and ten, and they’ve both had transplants and are doing well now, and that fills me with hope.
Recently, two Camp Sunshine regulars passed away. Jasper found me crying. “Why are you so upset, Mummy?” he asked. I told him what had happened.
“The doctors couldn’t fix their blood,”
I explained. He squeezed my hand.
“They’ll fix mine,” he said. His positive nature inspires me. He’s mad on wrestling, football and scouts. He adores his bull terrier cross Eric, loves school playtime, but hates lessons! He is nine now but only the size of a five-year-old. He and Molly adore each other.
Every three months Jasper’s blood is tested for signs of bone marrow failure. Meanwhile, we watch and wait. At least now though when the inevitable happens, thanks to Molly, Jasper will get another chance at life.
And thanks to his dad’s efforts other people will too. The TGA decision means people in other states can do what we’ve done. I’m very proud of him. Between Paul and Molly they’ve saved Jasper’s life. As a wife and a mum I couldn’t ask for more.
⦁ Brooke Miles, 35, Clarkson, West Australia
