It was a cold Christmas Eve and Thomas sat by the fire staring at all his presents under the tree. This year he wasn’t excited for Christmas. He didn’t want to open any of his presents. He only wanted answers.
He walked up to the window as he heard children screaming and singing Christmas carols. It had started to snow now and the other kids of the village were playing outside making snowmen and having snowball fights. Thomas was afraid. Even though he wanted to run outside and play with his friends, he remembered he had to be careful. He knew that if he fell over and cut himself, he wouldn’t stop bleeding for a long time.
‘Ho ho ho!!’ Thomas jumped and turned around. He could hear a voice in the chimney. ‘Ho ho, Rudolph, give me another kick in!!’ shouted the man. ‘Santa?!’ gasped Thomas. But it couldn’t be? It was only 9pm. ‘Santa wouldn’t come this early. I must be dreaming’, Thomas reassured himself.
‘AAA-CHOO!’ Thomas heard further stumbling and a large man with a white beard dressed all in red tumbled out of the fireplace.
‘Hello Thomas! Santa here. I hope you don’t mind me interrupting your Christmas Eve. I know I’m a bit early, but Elf informed me of an upset child. We can’t be having that on Christmas Eve now can we?’ the man winked.
Thomas was in awe. THE Santa Claus was in his house, stood right in front of him. ‘Shall I get you some cookies and milk?’ Thomas asked.
‘No, thank you young Thomas. I shouldn’t eat anymore. I will get stuck in another chimney tonight and won’t be able to delivery any presents. All my children will then be upset. But you tell me what is bothering you, my boy’, replied Santa.
‘Oh, well, erm…’ sighed Thomas, ‘It’s just I want to play outside but I always end up with bruises or bleeding. My mum is always worried about me and it’s not fair!’
Santa smiled. ‘Young boy, there is absolutely nothing to worry or be upset about. What you have is an inherited condition called haemophilia. Normally, when you cut yourself, substances in the blood known as clotting factors combine with platelets in your blood to make the blood sticky and thus stop the bleeding. However, haemophiliacs do not have as many clotting factors in their blood and so bleed for longer than usual.’
‘But why me?’ cried Thomas.
‘It’s not just you Thomas. There are many people with this condition. Due to the way the condition is inherited, it affects males more than females. In the UK currently, there are 6,000 people living with the condition,’ comforted Santa.
‘But how did I inherit it Santa? Neither my mum nor dad have this problem?’ asked Thomas, still feeling slightly anxious.
‘Haemophilia is inherited through a mutation in the X chromosome. Girls inherit this chromosome from both parents whereas boys only inherit it from their mother. Therefore, the chance of a child inheriting the haemophilia mutation depends on which of their parents have the mutated gene. In your case, your mother is a carrier of this mutated gene, which you have inherited. However, symptoms of haemophilia can vary from mild to severe, depending on the level of clotting factors in your blood. Thomas, you have the mild form. Some people with severe haemophilia experience worse symptoms that need on-going care. Alongside prolonged bleeding and easy bruising, these individuals may experience severe pain and stiffness with a high risk of internal bleeding around joints and muscles’, explained Santa. ‘Furthermore, there are two types of haemophilia: haemophilia A and B. Both have the same symptoms but are caused by problems with different clotting factors. Haemophilia A is caused by a deficiency of clotting factor 8 and Haemophilia B is caused by a deficiency of clotting factor 9. Haemophilia can also be acquired if your body’s natural defence system starts to attack clotting factors in the blood. However, Haemophilia A is the most common type, which is what you have Thomas.’
Thomas felt a huge wave of relief flow through his body as he began to understand his symptoms more. Although his bleeding usually occurred after falls, he felt worried for those in whom it occurred spontaneously or internally. He now understood that the level of clotting factors in the blood determined the severity of the condition and wondered how others managed with excessive bleeding.
‘There is no cure for haemophilia, Thomas,’ continued Santa, ‘but treatment is available to help individuals manage the condition and enjoy a good quality of life. Genetically engineered clotting factor injections have been developed to prevent and treat prolonged bleeding. For Haemophilia A, a genetically engineered version of clotting factor 8 called ‘octocog alfa’ is given every 48h, and for Haemophilia B, a genetically engineered version of clotting factor 9 called ‘nonacog alfa’ is given twice a week. Both have side effects but are very successful in managing the symptoms of haemophilia.’
‘So, will my kids have this condition Santa?’ Thomas questioned.
‘Oh my boy, you’re very young to worry about such a thing! Although it is inherited, it is all due to chance and also your wife’s genes. However, diagnostic testing is available before pregnancy, during pregnancy and after birth. Usually, mild cases are diagnosed sporadically when symptoms appear in childhood,’ Santa chuckled. ‘Now Thomas, I want you to continue to live your life normally. You do not need to be scared and stop yourself from playing with other children. There is treatment to manage your symptoms. Just try and avoid contact sports and remember to tell your doctor or dentist about the condition before taking any other medicines or undergoing surgery. You CAN still play like other kids!!’
Thomas’ face beamed. He could not be any happier. He felt relieved and smiled at Santa, who winked back at him. His Christmas wish had come true, and he started to dance around the Christmas tree. He was finally excited for Christmas and to open and play with all his new Christmas presents with the other children of the village tomorrow…