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Leap Day is Rare Disease Day

Sue Ellen
Posts: 156
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(@sue-ellen)
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Joined: 15 years ago

Rare disease is defined as occurring in <1% of the population. 

My granddaughter was already rare with her gene loss. Within the past few months she has been diagnosed with a hereditary disease - von Willebrand disease.  It’s a bleeding disorder which I am sure she inherited from me and my dad. It’s in ~1% of the population.   Her case was discovered after a school referral to CPS led to a bruise survey.  I went to the survey and told the medical staff free bleeding and bruising ran in the family, etc. 

https://scrippsnews.com/stories/nearly-30-million-americans-are-impacted-by-a-rare-disease/

 

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jana
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 jana
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Joined: 5 years ago

It has been a while since I heard the term free bleeders. We have this in our family. All three of my brothers have it to varying degrees. It did not pass on to their children, but I think it skipped a generation and my grandmothers brothers had it. 

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Sue Ellen
(@sue-ellen)
Joined: 15 years ago

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Posts: 156

@jana 

Are they diagnosed as having von Willebrand? 

From what I understand, the bleeding can vary by site of injury, etc. AND estrogen increases the body’s level of vWF (Von Willebrand factor). I bleed less after puberty. 

My oncologist/hematologist didn’t test me. He said we’d wait until my granddaughter had a diagnosis. He also cited my lack of excess bleeding during my lumpectomy.  I will pursue this. 

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