There is so little known about Haemophilia , a genetic condition that causes abnormal bleeding.
Derived from the Greek words ‘Haima’ (blood) and ‘philia’ (a tendency toward) Haemophilia is a bleeding disorder caused by a gene mutation. Your blood doesn’t clot properly, and this makes it difficult to control bleeding.
When most people cut themselves, your bodies natural reaction is to heal the wound. Within seconds of the injury, cells in the blood (known as platelets) clump together around the wound.
It is these platelets along with proteins, calcium and other clotting factors come together to form a clot. Think of it as a plug that covers the wound to stop the blood from running away, just like water in the tub.
As a rule, haemophilia generally effects only males, but in very rare cases, it has also been found in females.
When a blood vessel is injured, special proteins in your blood called ‘clotting factors’ act to control blood loss by plugging or patching up the injury. If you have lower than normal levels of a clotting factor, then you are termed a haemophiliac.
Some people have a mild form of haemophilia, whilst others are far more severely affected.
There are two types of haemophilia:-
- Haemophilia A (also called classical haemophilia) It is the most common type. It is caused by lack of clotting factor 8, which results from a mutation of gene F8.
- Haemophilia B (sometimes called Christmas Disease) Is caused by lack of clotting factor 9, which results from a mutation of gene F9.
SYMPTOMS
Most people who suffer from haemophilia have a family history of bleeding problems.
- Easy brusing from an early age
- Bleeding for no obvious reason, especially in joints and muscles
- Greater than normal bleeding following injury or surgery
- Abnormally heavy bleeding either after child birth or during menstruation.
Although bleeding usually becomes apparent during infancy, some children don’t show any symptoms until they begin walking or running.
DIAGNOSIS
If you suspect you have haemophilia, a simple blood test can measure the levels of clotting factors. These tests can show the type and the severity of the disease. Genetic testing can confirm a diagnosis of haemophilia, however a gene mutation can’t always be found.
Even though haemophilia is a rare condition, you are not alone. Australia currently has around 2,600 people diagnosed with the disease.
THE STORY OF LACHLAN
Below is the story of 17 month old Lachlan Gracey, one of the many sufferers. Lachie has an unresolved gastrointestinal bleed and his doctors can’t figure out what is causing it.
Brisbane parents Shannon and Charles Gracey, have to be more vigilant than most when it comes to looking after their son. Any slight brusing or swelling could result in an urgent dash to hospital.
Shannon always knew there was a 50-50 chance of passing on the disorder when she fell pregnant and it was confirmed in an ultrasound that she was expecting a boy. You see, her grandfather also had Haemophilia and passed away at the tender age of 42. Usually the females are the carriers and pass it onto their sons. The gene can also be passed onto a daughter who then also becomes a carrier.
Lachie’s factor level is only nine per cent. This indicates he is classified as mild, however there are still risks if he was to have a big fall and if that fall was to cause internal bleeding.
In the event Lachie suffers a severe bleeding episode, one of the first obvious signs is “Malena”, this when his parents see a black tar like faeces. Lachie will then rapidly decline, becoming lethargic, his complexion will turn grey and then he vomits blood. When this happens, Lachie is rushed into hospital for urgent blood transfusions and factor treatment via a drip for anywhere up to a week.
A less severe episode still requires a trip to hospital, and a possible admission for factor treatment.
With Lachie’s health a constant worry, his parents are planning on taking him to Canada, the headquarters of the “World Haemophilia Federation” where a huge amount of very positive research is being done. They are hoping to get a better insight into new developments in the treatment of haemophilia and how this can assist Lachie in his ongoing care now and in the future.
A “GO FUND ME” account has established and the money raised will go towards some of the travelling costs, and appointments/treatment for set out for Lachie. The majority of funds will go into making a documentary to help raise awareness of Haemophilia, and those who suffer the consequences of having it. Through the generosity of the general public, the tally is just over $10,000 but more funds are needed.
Please watch the short video and all donations are most welcome no matter what size the contribution. Simply just go to www.gofundme.com/bleedinglovefilm and follow the prompts.
From Lachie’s family and friends, thank you for your support.
