Has anyone ever called you one in a million?
You took it as a compliment, no doubt. Maybe you saw this as someone saying that you’re special, you’re unique, you’re not like everyone else. Chances are, that person meant it like that in the first place.
But again, chances are that this person was not your doctor.
In most cases, when your doctor tells you that you’re one in a million, it means that you have a fight ahead of you.
This is the case for people with the rare bleeding disorder called Glanzmann Thrombasthenia (GT). Like other bleeding disorders, there is something missing or dysfunctional in the blood, particularly the platelets.
For GT, the dysfunction is in one of the glycoproteins (GP). Technically, for a person to have GT there must be two glycoproteins that aren’t working properly. Having only one malfunctioning GP will not cause the disease. Because people need both to be diagnosed, it is possible for both genders to be carriers.
Like most bleeding disorders, easy bruising and slow wound clotting/healing are symptoms of GT. Diseases like hemophilia, von Willebrand disease, factor deficiencies, and Bernard-Soulier syndrome all have similar attributes. This makes the diagnosis process difficult—most tests for bleeding disorders look at quantity of platelets rather than functionality of platelets.
Those one in a million people who have GT may very likely have sufficient platelets to be in the “normal” range, but those platelets aren’t working right.
That’s why Glanzmann Thrombasthenia needs a special type of functionality test to be diagnosed properly.
There are numerous ways to treat most bleeding disorders. GT is no different. For some, a bone marrow transplant is enough to reactivate the production of GPs. Otherwise, lifestyle changes, such as diet and activity, can reduce the likelihood of major bleeding events. Medications and transfusions in catastrophic instances can also be used. As with all bleeding disorders, careful attention should be paid to medicines that have any sort of blood thinning effect.