I FELT SO GUILTY PASSING

Mum of two HANNAH BRUNNING tells what it was like to find her son has severe haemophilia A and had inherited it from her

WHEN Hannah Brunning’s baby son Jake developed a series of odd bruises on his body, she had no hesitation in taking him to the GP. What followed was a three-month fight to find out what was wrong with her little boy.

Jake was six months old when Hannah first noticed the marks, which she says appeared odd on such a young baby who was neither sitting independently nor crawling. The biggest one was under his arm where Hannah had been picking him up.

“I took Jake to the GP, showing her the bruise under his arm and a big bruise on his tummy,” explains Hannah, from Woodham, Surrey. “The GP acted very suspiciously, quizzing me about who else looked after Jake. She said to come back in two weeks if the bruise didn’t go away. It did go but then another big bruise came up on his forehead.

“I was worried about having my son taken away from me. I was off on maternity leave and occasionally my mum or mother-in-law would look after Jake. Nobody else looked after him. I kept taking photos of the bruises and went to see another GP. I was very assertive about getting a referral to a paediatrician and spent three months trying to get someone to listen to me.”

Aged eight months, Jake was seen by a paediatrician and checked for leukaemia, which can also cause bruising. Hannah, 36, a physiotherapist and husband Russell, 43, an IT director had an anxious wait for the test results.

“We were very scared about what it could be,” says Hannah. “We went back for the consultation and were told it was a blood-clotting problem and would be a lifelong disorder. It wasn’t until the GP called to say Jake had severe haemophilia A that we knew what it was.

“We took the news really badly. My world fell apart. I’d describe it as going through a grieving process. I was thrown into a medical world that no parent wants to be part of.

“As a neurological physiotherapist, I also knew too much about brain bleeds, so it was frightening. Just over a week after the diagnosis we saw experts. It was scary but we felt reassured.”

Haemophilia A is an inherited condition that affects the blood’s ability to clot. Haemophilia can range from mild to severe. People with haemophilia have very low levels of the blood-clotting agent factor VIII, which makes them prone to bruising and internal bleeding.

Bleeds can occur internally, into joints and muscles or externally, from minor cuts, dental procedures or bumps. How frequently a person bleeds and how severe it is depends on how much factor VIII is in their plasma, the fluid that helps maintain blood pressure and regulates body temperature.

People with severe haemophilia A experience bleeding following an injury and may have spontaneous bleeding episodes, often into their joints and muscles.

THE condition is carried by women who then have a 50-50 chance of passing it on to sons. As genetic testing showed that Hannah was a carrier, any sons she had would have a 50 per cent chance of inheriting the disorder and any daughters have a 50-50 chance of being carriers.

The couple also have a daughter, Lily, four, who will have the option of being tested when she is older, after genetic counselling, to find out if she is a carrier.

Hannah says: “I’m only just coming to terms with it. Tests on all the family show the genetic mutation occurred with me, which was such a shock to hear. I’m a symptomatic carrier, which means