A 1 in 1,000,000 rarity
Rare Disease Day 2019
The theme for Rare Disease Day 2019 is:
“Bridging health and social care”
The twelfth edition of Rare Disease Day will focus on bridging the gaps in the coordination between medical, social and support services in order to tackle the challenges that people living with a rare disease and their families around the world face each day”.
The RED Trail aims to bring our rare chronic disorder families together through our regular Social MeetUps to help break down those feelings of isolation and create opportunities to share personal stories to raise awareness supported by our inclusive support network.
How we met Sandra
Only 1 in 1,000,000 have Glanzmann’s Thrombasthenia
Sandra’s condition is so rare, that Glanzmann’s Thrombasthenia often goes undiagnosed. And, unlike other rare bleeding disorders, there is not a lot of information available to help people with GT understand their condition. The diagnosis of GT may make you feel isolated, since there may not be others in your community or associated with your treatment center that have the disease.
Well, Sandra, you are not alone. The RED Trail will support your efforts to connect with our bleeding disorder community and we hope by welcoming you to all our events, you will not feel isolated.
What is Glanzmann’s Thrombasthenia
What are the symptoms of Glanzmann’s Thrombasthenia
The most common types of bleeding seen in patients with Glanzmann’s Thrombasthenia (GT) include:
- Easy bruising
- Petechiae – small red or purple spots on the skin caused by a minor broken capillary
- Bleeding from the nose or gums
- Heavy menstruation (in women)
- Excessive bleeding after surgery or injury
- Excessive bleeding after child birth
Less common types of bleeding seen in patients with Glanzmann’s Thrombasthenia include:
- Bleeding into head and brain (headache, neck ache, drowsiness, loss of consciousness)
- Bleeding into gastrointestinal tract (vomiting blood, bloody or black bowel movements)
- Joint bleeds
In contrast to patients with more common bleeding disorders like congenital hemophilia A or B, patients with Glanzmann’s Thrombasthenia tend to have more mucocutaneous bleeding, or bleeding involving mucous membranes (nose, mouth, stomach) and skin, but do not tend to experience joint or muscle bleeding.
Treatment for Glanzmann Thrombasthenia
- Antifibrinolytic drugs
- Recombinant factor VIIa
- Fibrin sealants
- Hormonal contraceptives (to control excessive menstrual bleeding)
- Iron replacement (if necessary to treat anemia caused by excessive or prolonged bleeding)
- Platelet transfusions (only if bleeding is severe)
More information can be found here about Glanzmann Thrombasthenia, including new clinical trials and treatments available globally.
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