A recent article showed how the parents of a little girl with the rare blood disorder Von Willebrand disease are spreading awareness about the importance of donating blood.

Von Willebrand Disease (vWD)

Named after the Finnish physician, Erik von Willebrand, who first described the condition in 1925, von Willebrand disease (vWD) is a bleeding disorder that affects the blood’s ability to clot. Although there is no cure for vWD, treatment can control symptoms and help avoid problems. People with vWD may bleed excessively and/or for a longer period of time because their blood doesn’t have enough of a protein called von Willebrand factor (VWF), or that protein doesn’t function as it usually does. VWF serves two main functions, as it:

1. acts as a glue to hold platelets together (in the form of a clot) to seal a hole in a blood vessel
2. carries the essential blood-clotting factor, called factor VIII, in the bloodstream

Because of this, people with vWD often bruise easily, have frequent, long-lasting nosebleeds, and experience abnormal bleeding following injury, surgery or dental work. There are 3 types of vWD, based on the amount of von Willebrand factor that is produced:

• Type 1: the mildest and most common (75% of people with vWD have this type), characterized by lower than normal levels of VWF
• Type 2: medium level of severity, the amount of von Willebrand factor in the blood is often normal but  doesn’t work properly
  • There are 4 subtypes of type 2 von Willebrand disease, and it is important to get an exact diagnosis because treatment differs between them:
    1. Type 2A: the most common subtype; it typically involves normal amounts of the VWF protein, but there’s a defect in that protein that keeps blood platelets from binding together well
    2. Type 2B: the second most common subtype; it is characterized by VWF binding to platelets in the bloodstream instead of at the site of the injury to the blood vessel. Large bundles of platelets are removed from the body’s circulation, which can cause thrombocytopenia, a shortage of platelets
    3. Type 2N: much rarer subtype; VWF works normally with platelets, and the platelets clot at the injury site, but they fail to transport factor VIII into blood circulation, resulting in an overall VWF deficiency that can be mistaken for hemophilia A
• Type 3: the most severe and rarest form; people with type 3 vWD have very little to no VWF in their blood

Von Willebrand disease is thought to be the most common genetic bleeding disorder. It’s estimated that 1 in 100 to 10,000 individuals have von Willebrand disease, which means it affects up to 1% of the general population. It occurs with equal frequency among males and females. Many people with vWD experience only mild symptoms, and researchers estimate that as many as 9 out of 10 people with vWD are undiagnosed.

Symptoms:

In many cases, the symptoms of vWD are absent or so mild they aren’t recognized as symptoms. This can make diagnosing vWD very difficult. Abnormal bleeding is the most common symptom, and it may present as:

• Frequent, long-lasting, and heavy nosebleeds that are hard to stop
• Bleeding from the gums
• Increased/longer menstrual flow
• Excessive bleeding from a cut or following a tooth extraction or other dental procedure
• Blood in stools or urine
• Long-lasting bleeding from shaving with a razor or other similarly minor injury

In addition, easy bruising is a common sign of internal bleeding in vWD. The bruises may show up frequently, even though there’s been very little trauma to the area. They are usually larger than about an inch (2.5 cm) in diameter and have a raised lump. More dangerous is a bleed in a joint or muscle, which can cause feelings of tightness and limited movement in the joint or muscle, puffiness and heat at the site of the bleed, and increased pain.

Rielynn Gormley Has to Play it Safe

One-year-old Rielynn Gormley has been diagnosed with von Willebrand disease, which effects the ways she is able to play. If she happens to get a cut, it will be hard for her to stop bleeding because of her disease. Her parents even said that she once had mouth cuts that bled for around six hours. This means her parents must keep a very close eye on her at all times, especially when she is playing.

If Rielynn does get injured, she might lose too much blood and then has to head to the hospital. There, she receives an intravenous treatment which is made from the plasma taken from donated blood.

Spreading Awareness for Blood Donations

Since Rielynn requires intravenous treatments on a semi-frequent basis, her parents have truly seen the importance in people donating blood. Without blood donations, their daughter could be in serious danger of losing too much blood.

In order to spread awareness about the importance of donating blood, Rielynn’s parents decided to hold a blood drive in honor of her first birthday. Over 40 people signed up, and even more are hoping to donate. Richelle and Dylan Gormley were overwhelmed by the response people had to the blood drive, and encourage people to donate even after the drive.

Rielynn’s parents truly hope people will continue to donate blood whenever they can since this small gesture can save so many lives.