Growing up with Glanzmann thrombasthenia

Elizabeth’s teenage daughter Grace has Glanzmann thrombasthenia. Elizabeth spoke with HFA about what it was like to find that your child has a very rare bleeding disorder and their family experiences as Grace grows up.*

Little girl in field - Image by Emma Bauso for

Treatment for Grace involves tranexamic acid as a starting point if she has mouth, nose, ear or face bleeds, and also for her periods. When things get more serious and she needs more help with clotting, her medication steps up to recombinant factor VIIa (Novoseven®).

The road to diagnosis took 9 months and several referrals to specialists. As a premature baby, Grace needed regular heelprick tests when she was born.

Their GP referred her to a paediatrician, who sent her to a dermatologist at the children’s hospital.

When Elizabeth and her husband investigated having more children, they discovered just how astonishing it was that Grace inherited the gene alteration causing Glanzmann thrombasthenia from both of them. They are not in any way related to each other. Genetic testing confirmed they were both carriers.

It was recommended that Elizabeth and her husband use IVF to have more children, but it was too expensive to pursue after the first round was unsuccessful.

Now that Grace is a teenager, managing her bleeding disorder has become part of normal life. There are routines, areas that are relaxed, and some rules – ‘she needs to be safe about what she is doing.’

She participates in sport but avoids contact sports – anything where she could be hit by a bat or a ball, as well as by a person, and that includes when she is sitting out.

This has included working carefully with her school to make sure she can have first aid and ice any bleeds easily and quietly, ‘so she gets the most out of her classes, doesn’t feel like she is imposing on anyone or feel like she is being noticed.’

*Elizabeth and Grace are not their real names

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