Meet Sandra who has Glanzmann Thrombasthenia Disorder

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A 1 in 1,000,000 rarity

Rare Disease Day 2019 cover photo with a smiling mother and child

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

During our recent Social MeetUp, we were so thrilled to have met an incredibly inspiring woman with one of the most rarest form of a bleeding disorder – Glanzmann’s thrombasthenia (GT). Sandra was able to speak openly about her rare disorder and taught me so much on that day. She was unfortunately diagnosed very late into adulthood where she suffered many unexplained internal bleeding and painful limbs which left her immobile, and at times unable to enjoy a fulfilling life. Since her GT is so rare, she said there isn’t a dedicated charity or foundation that could support her. The team at The RED Trail aims to change that for Sandra. We will work with our caring members of the community to help her connect to organisations that can make a difference in her life. In the meantime, we are so relieved to know Sandra now has The RED Trail community behind her and we look forward to seeing her attend our future events to help her get out and connect with many more others living with a similar bleeding disorder.

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

Glanzmann’s thrombasthenia (GT) is an abnormality of the platelets. It is an extremely rare coagulopathy (bleeding disorder due to a blood abnormality), in which the platelets contain defective or low levels of glycoprotein IIb/IIIa (GpIIb/IIIa), which is in charge of making the platelets stick together through binding to fibrinogen (clotting factor 1). This means platelets cannot aggregate or clump together to make a plug, hence makes it difficult for the normal blood clot to form.

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

Most people with platelet function disorders only need treatment during surgical procedures (including dental work) and after injury or accidents. When needed, Glanzmann thrombasthenia may be treated with;
  • 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)
People with inherited platelet function disorders should not take Aspirin®, nonsteroidal anti-inflammatory drugs (such as ibuprofen and naproxen), and blood thinners, which can make their bleeding symptoms worse.

More information can be found here about Glanzmann Thrombasthenia, including new clinical trials and treatments available globally.

 

#RareDiseaseDay #ShowYourRare #BleedingDisorders #RareDisorders #ChronicDisorders #GlanzmannThrombasthenia #PlateletDisorder #TheREDTrail

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