Just found out my birth family suffers from C9 gene mutation. Please help!

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Lipreng

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Hi,
I was adopted when I was young and did not know my full medical history. I just discovered that the C9 mutation runs in my family. Over the last 4 years, 3 people have died from this - my uncle and aunt from ALS and my mom from FTD. I am unsure if anyone else is currently affected in my very large family.I guess I am just looking for guidance regarding where to go from here as far as getting tested and participating in studies.

I also have a question regarding neurological illnesses caused by the C9 gene mutation. I was told that my mom basically lost her mind in her 40’s. I was told that it was probably due to “late onset” Bipolar Disorder. She was married for two decades, worked as a teacher and was a great PTA Mom to 2 kids. I was told that she suddenly started acting unlike herself, had affairs out of wedlock and conceived me at 45. She was never the same after. Here’s what confuses me: She was committed to a psychiatric hospital in her early 70’s and eventually diagnosed with FTD before she passed. Is it possible that her “breakdown” was FTD all along? Everything I’ve read says it normally is fatal within 15-20 years at the most.

Thank you so much for reading this.

-Lisa
 

lgelb

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I'm sorry to hear about your family history.

I would meet with a medical geneticist somewhere like Vanderbilt, as is closest to you, or one of the major ALS centers to discuss indications for testing. If testing is indicated, that will give you more information about your own status and possibly present you with the choice to enter research studies. You should be aware that even consulting a professional about this genetic history (depending on how "on the record" your recent discovery is) is disclosable/discoverable information should you apply for life insurance, loans and the like.

You are right, FTD doesn't usually last that long. It's not impossible that she had another psychiatric disorder before the onset of FTD.

Best,
Laurie
 

Nikki J

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Hi sorry to hear about your family.

If you have interest in being in studies and are able to travel there are a number of opportunities for you as a first degree relative of an affected person. Some of them will test you off the grid. They are mostly longitudinal ( multiple visits) If you are interested I can give you information. The studies provide genetic counseling when they test.

There are answers coming for c9 and gene blocking trials are supposed to start this year. Treatment/ prevention will be there for you I believe

There is psychosis and schizophrenia associated with C9 and brain changes are found on MRI in asymptomatic carriers so what happened to your mom in her 40s might be tied in.
 

Lipreng

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Hi Laurie, thank you for your response. I am now afraid to seek professional help if it can be used against me in the future. I wish to adopt children a few years down the line and worry my medical information could make that impossible. Would it be a safer route if I enrolled in a study?
 

Lipreng

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Hi Nikki, thank you for your response. I am absolutely interested in participating in studies, especially the “off the grid” studies you mentioned.
 

Nikki J

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I sent you a pm.
 
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