Christmas Disease Is Real – And It’s NOT What You Think It Is
The word ‘Christmas’ is probably one of the most beautiful ones in our vocabulary; after all, what other word can evoke so much joy, peace, magic and love?
For those diagnosed with Christmas Disease, though, it’s an entirely different story. Some of them may never get to live a normal life and others require special treatment.
I must admit that I’m taking advantage of the upcoming Holiday season to raise awareness on this topic. Although this is a rare genetic disorder, I truly believe it deserves our attention because these people need our help. Please stay with me until the end of this post where I show you how you can save a life this Christmas.
What is Christmas Disease?
The medical term for this illness is Hemophilia B, or factor XI hemophilia. Its popularly known as Christmas disease due to Stephen Christmas, the first person to have been diagnosed with the condition back in 1952 (so there’s no actual correlation to the Christmas Holidays).
It is a rare genetic disorder which alters the normal process of blood coagulation.
People diagnosed with this illness produce little factor XI, or none at all; due to this fact, they may experience spontaneous bleeding or prolonged bleeding in case of injury anytime. As a general rule, the less factor XI your body produces, the worse your symptoms may get.
Unless you receive proper treatment, Christmas disease can be fatal.
What causes Christmas Disease?
Since this is a genetic disorder, those who have it are already born with the condition; in fact, two-thirds of hemophilia B cases are inherited. As for the remaining cases, scientists believe that they are spontaneous gene mutations that occur extremely early (during the fetal development phase).
The actual cause for Christmas Disease is unknown. Researchers noticed that it happens almost exclusively in males – but that doesn’t mean women shouldn’t be aware of it!
As it turns out, women can also carry a faulty gene and transmit it to their sons who might get hemophilia B while in the womb. In fact, every daughter of a father who has this defective gene will carry Christmas disease for the rest of their lives; interestingly enough, though, the same father doesn’t pass this gene to his sons.
Meanwhile, a mother carrying the faulty gene has a 50% chance of birthing a son with Christmas disease and another 50% chance of having a daughter who also carries the gene.
Symptoms of Christmas Disease
In severe cases, hemophilia B is usually diagnosed before the patient turns one. However, mild cases might be overlooked until toddler years or even later.
The main concerns which lead to genetic testing usually appear after abnormal bleeding, surgery or severe injuries that heal improperly.
Here are the main events or causes which make doctors suspect Christmas disease:
- Prolonged, unusual bleeding after a surgery, tooth extraction, cuts or serious wounds
- Excessive bruising or prolonged, frequent nosebleeds
- Blood found in urine or feces without any apparent cause (in patients with Christmas disease, this happens due to internal bleeding)
- Internal bleeding in the joints area that causes swelling and pain
Even though people are born with this illness, it might take years until the first symptoms appear.
Testing and diagnosis
If you’re a woman and you know your family has a history of Christmas disease, genetic testing can reveal whether you carry the faulty gene or not.
The same goes for men who think they might suffer from this illness. These are the main blood tests required to confirm the condition:
- Factor IX test. During this test, your doctor can see how much of the clotting factor is in your blood.
- Activated partial thromboplastin time test. This one allows doctors to examine how quickly your blood clots.
- Prothrombin time test. This is a second type of test which determines how fast your blood clots.
- Fibrinogen test. It basically determines how good your body is at forming blood clots.
Unfortunately, there is no cure for Christmas disease. However, there are a few treatments available to keep the condition under control for the rest of the patient’s life:
Factor IX injections
This treatment involves injecting the factor IX in the patient’s body to normalize the blood clogging process. The factor IX is either procured from donated human blood or created artificially in laboratories.
The artificial option is called recombinant factor IX; doctors usually recommend this alternative because it’s found to be safer and more effective. That’s because donated human blood can also come with other pathogens such as HIV or hepatitis, which can be life-threatening for those with Christmas Disease.
Those who suffer from mild symptoms of Christmas Disease can receive desmopressin acetate. This product must be applied on small wounds as it stops the bleeding and aids in the healing process.
However, larger, serious wounds or internal bleeding still require immediate medical assistance.
Unfortunately, people with severe forms of hemophilia B need preventive blood transfusions constantly to reduce heavy bleeding (medically known as prophylaxis). This step is crucial for newborns and small children, but it also requires a hepatitis B vaccine in advance to avoid any health risks.
People diagnosed with Christmas disease can live a normal life as long as they follow proper treatment.
It doesn’t mean the diagnosis isn’t affecting their life quality.
These people must avoid a wide range of activities which may cause wounds or serious injuries. They also need blood-clotting therapy before any type of surgery to avoid complications. If left untreated, the disease can be fatal especially in children.
Luckily, you can help these people stay safe and live a better life through donations.
The Coalition for Hemophilia B is a great place to start contributing through donations which give people a life-saving opportunity. You can check out their website here to find out how you can get involved.
Last, but not least, if you’re eligible for donating blood, please do so. Not only will you help people with Christmas Disease, but your small effort can literally save someone’s live someday. You can contact local public health authorities to find out if you can donate blood and make a difference.
It all starts with us. Let’s make this world a better place!