'People ask if their child can catch it': mum's bid to educate others about haemophilia

Mason Bradshaw and mum Jacqui.
Mason Bradshaw and mum Jacqui.  

Jacqui Bradshaw still remembers the moment a doctor broke the news to her that her baby son, Mason, had the rare blood disorder haemophilia.

Mason, her first child, was three and a half months old when he woke up one morning irritable and unable to bear weight on his left leg.

With her husband Todd working away, she took him to her GP, who ordered an X-ray and put a small cast on his leg.

When she returned to have it checked the next day, the doctor was concerned about a red mark on the back of Mason's leg and sent them to Princess Margaret Hospital for Children in Perth.

There, an emergency doctor noticed a small yellow bruise near his ribs and ordered a further leg X-ray, which appeared to reveal a spiral fracture. Mason was red-flagged and Jacqui was formally interviewed by a social worker and another doctor who looked for signs of abuse.

Blood tests were also taken before a distraught Jacqui was finally allowed to take Mason home.

A week later, with her husband back home, they received a call from the hospital to come in.  Once there, they were ushered to another part of the hospital, where a team of medical professionals were waiting.

"They walked us downstairs. By this point I was terrified," Jacqui recalls.

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"When we walked in there was a doctor, a nurse, a social worker, a rheumatologist and a physiotherapist waiting.

"The doctor said 'the blood tests have come back and Mason has severe haemophilia'.

"I had heard of it but I didn't know anyone with it or know exactly what it was."

Haemophilia is an incurable, inherited bleeding disorder which mostly affects males. A third of cases occur in families with no previous history of the disorder. 

People with haemophilia lack one of two clotting factors that control bleeding by causing blood to clot.

Haemophilia A, or classical haemophilia, is the most common form, and is caused by having reduced levels of the protein, factor eight.

Treatment involves regular infusions of the missing protein to lower the risk of "bleeds", which can occur spontaneously or as a result of trauma.

The couple learned that while most people have levels of 50 to 200 per cent of clotting factor in their blood, Mason's level was less than 1 per cent.

The suspected leg fracture had in fact been a muscle bleed and unbeknown to her, Jacqui has passed on the condition to her son, even though there was no family history.

Despite never having suffered a bleeding episode in her life, Jacqui was later diagnosed with mild haemophilia.

"The haematologist said we pretty much don't do anything until they start crawling and walking," says Jacqui.

"But within two weeks of his diagnosis he had an ankle bleed and had to go into hospital and have an ankle aspiration and cortisone injection under anaesthetic."

Mason suffered three more major bleeds into his joints and knees over the next two weeks, so at five months, he underwent surgery to insert a port under the skin near his ribs so he could begin prophylactic treatment.

The treatment involves giving a patient regular doses of the clotting agent to prevent bleeds.

Mason started off receiving 550 units twice a week, but the amount and frequency increases as he grows.

He now receives 750 units every second day.

In a bid to minimise his trips to hospital, Jacqui trained for many weeks to administer the clotting agent at home.

Despite regular treatment, Mason, now 4 and a half, still sometimes experiences bleeds requiring hospitalisation.

But his parents are determined to let him lead an active, normal life, including BMX bike racing, which he loves.

"We have been honest with Mason. We have tried to educate Mason as much as we can and have taught him to respect his body," Jacqui says.

"Sometimes he doesn't want to get his treatment. I just say, 'Do you want to go on your bike? Do you want to go and play? And he says 'yes' and then it is over in five minutes."

Jacqui says there have been times she has been overwhelmed with guilt that she passed the condition on to her son, but sessions with a social worker helped her overcome that.

"I had a lot of guilt that I had made Mason this way and I could potentially make another child this way," says Jacqui, who has a 50-50 chance of passing the condition on to another son.

The couple eventually did decide to have another child and tests early in the pregnancy revealed Jacqui was having a boy.

After a high-risk pregnancy, Beau, now 2 and a half, was born. Tests revealed the next day he did not have the disorder.

Jacqui says she and Todd are very proud of the way they have raised Mason and have no doubt he will help educate others about haemophilia as he gets older.

"He is really quite a special little boy and I am proud that we have managed to raise such a strong little boy," she says.

In the meantime, Jacqui hopes days like World Haemophilia Day on April 17 will help raise awareness of the condition that affects just 2800 Australians.

Like other parents of children with haemophilia, Jacqui is often asked questions such as "can my child catch it?", "will he bleed to death if he cuts his finger?" and "does he have HIV too?".

Having moved around a lot because of Todd's mining industry job, the family is now living in the Northern Territory, where Jacqui says Mason has the only reported severe case of haemophilia.

Despite the isolation, she feels supported by Haemophilia Foundation Australia, which arranges family camps where Mason can interact with other children who have the condition.

Further details: https://www.haemophilia.org.au