family life · Ramblings · Uncategorized

Fabry

Last year, my sister and her two boys were diagnosed with Fabry disease. This is an x-linked genetic disease that is typically passed from mothers to sons- those sons to their daughters- those daughters to their sons, etc. TYPICALLY.

After a lot of convincing, my parents finally underwent some genetic testing to find out which side of the family it come from. Now, if my mom had it, there would be a 50% chance that my other sister and I have it. If my dad had it, we all had it. Does that make sense? No? Yeah, it’s confusing.

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A few weeks ago, I got a text message from my dad saying “I’m the one..” I stared at my phone for quite a while digesting what that meant. Listen, I am not asking for a pity party. The specific mutation in our family tends to not really be a huge deal, especially for females since we have two X chromosomes. But, not a lot is known about it. My dad’s diagnosis was an automatic diagnosis for myself and my other sister.

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What is the point of this post?

Awareness.

I was asked a couple of weeks ago “How can I pray for your family with this?” All I could say was pray for more research to be done.

Most people have never heard of Fabry disease before. I had never heard of it until last year. The state my nephew was born in had just started the newborn screening for it days before he was born. We would still be clueless if it weren’t for that screening.

I am so thankful for the advances in technology that have allowed discoveries like this to be made. These discoveries give people who suffer from this disease a better chance at life.

Visit the National Fabry Disease Foundation website to learn more about this disease, and what can be done to help.

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2 thoughts on “Fabry

  1. Just so you know, females can pass it to their sons and daughters equally at 50%. Definitely pray for more research and improved treatment options! They are studying some new options currently that could be as simple as a one time treatment!

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    1. Right. I need to talk to the pediatrician about getting the girls tested. I love the one time treatment! That would be amazing instead of constant infusions.

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