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A Discovery In My Family That Might Give Cause For Dysautonomia


lissy
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Hi all,

Growing up I always knew my brother was special he was born with 4 thumbs 2 on each hand and his ears were deformed, he was partially deaf and mild mentally handicap and recently found out he has kidney disease. And on my fathers side I was always told there were 2 other family member with some challenges also. I found out recently my father was also born without a important part of the body which I won't discuss in detail in which he had surgery at a few days old to give him one. My parents were simple people( mother was learning disabled very timid) didn't have to much information on the health history of family or even what was it called what my brother had... So the other night while having insomnia I started researching conditions just to add more knowledge for the future because i have children and would want them to know the risks and possibilities if needed.

So I found this one condition called Townes-Brocks Syndrome affects 200 people in the world !!!!!which fit perfectly for my brother and even mentioned something about my fathers issue also. I read further and found chiari malformation as a Characteristic . And I was shocked I said WOW what if I have this chiari malformation causing dysautonomia .

I cried and just knew this had to be my cause, so this condition that my family has is genetic. My father only got 1 characteristic , my brother has 6 , and I possibly have 1 myself. My father always said it only affects males, but from what I read it affects both sexes equally and does not skip generations it just may not show up physically or you don't get the gene like a 50/50 chance.

I go to Cleveland in less than 2 weeks for my autonomic test and the doc does specialize in chiari but I thought it would be more concrete if I could have this genetic test confirmed. Which I have to even find a lab that will do that test and I'm unsure how long it will take to get results back. So I have been soooo nervous since I read this.

I would really like to know if any of you have chiari malformation and if you have had the surgery??

And what information could anyone possibly share.

I also wanted to share this because it might help someone else here if you have genetic conditions in your own families that can be attributed to dysautonomia.

Lissy

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Wow, eye-opening indeed! Good for you for figuring out this piece of the puzzle. With your family history, it sounds like there is a good chance that you do have this syndrome. I think you are on to something.

I would guess that you need to see a geneticist for a complete history & work-up. Lots of time, our dysautonomia symptoms can be the result of something else, like Townes-Brock Syndrome, whether it's by chiari malformation or another mechanism. I also read that TBS affects the heart. For instance, if you were research symptoms of EDS, you won't see dysautonomia listed. But MANY affected also experience dysautonomia. The same may be true for TBS.

It would be really helpful to find a community of others affected, like this forum. I'm not sure if that exists.... It would be so gratifying to be able to compare symptoms with other sufferers.

Once you get a DX confirmed, meeting with a genetics counselor would be a great idea to understand the possible risk of conceiving a mildly to severely handicapped child.

As far as getting anywhere with this PRIOR to your CC appt...would be a long shot. In my experience, these things take time. The CC docs will be able to make the referral to a good geneticist so that you can get started. I went through a similar experience getting screened for EDS, type IV. It took moths to get an appt., weeks and weeks to get approval from my insurance co for the testing, and then months to get the results back. Frustrating. If you live near a major research hospital, it might be a little easier.

Regardless, let us know what you find out. I am so proud of you for uncovering this vital part of your (and your families) medical history.

Hugs-

Julie

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Thank you so much for replying:) I was beginning to worry ...

I will keep you posted I am trying to get my GP to refer me to this Neuro I found and he has appointments available before I go to CC so maybe just maybe I can get a definite DX of Chiari. But I'm so new to this complex side of things that I don't even know how long it takes to get those result back. I know the genetics are going to be more work and alot more time, I'm working on my brothers behalf also. So I guess well see what happens.

*** I have had 5 children all physically healthy and without any deformities so I have been blessed, I really just want to know for their sake in the future.

Thank you sincerely for showing interest thats why I love this site!

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Thank you so much for replying:) I was beginning to worry ...

I will keep you posted I am trying to get my GP to refer me to this Neuro I found and he has appointments available before I go to CC so maybe just maybe I can get a definite DX of Chiari. But I'm so new to this complex side of things that I don't even know how long it takes to get those result back. I know the genetics are going to be more work and alot more time, I'm working on my brothers behalf also. So I guess well see what happens.

*** I have had 5 children all physically healthy and without any deformities so I have been blessed, I really just want to know for their sake in the future.

Thank you sincerely for showing interest thats why I love this site!

How blessed you are to have FIVE healthy children!!!!! I read that TBS can result from genetics OR a random mutation. In your case, given your Dad's issue & your brothers manifestations- it certainly seems genetic. Once you get a definitive DX, maybe your children are the ones that should do the genetic counseling as it M-A-Y (not necessarily) show up again in the next generation. They may be recessive carriers of TBS.

I hope you get the Chiari Malformation ruled in (or out!) before your appt. From what I have learned on this site, it is very difficult to DX and only those doctors who specialize in it are truly qualified to make the DX. Make sure the neuro you see knows what s/he is looking for.

How wonderful that YOU put the pieces together & are pro-actively caring for yourself & your family. Keep us posted on what you find out.

Julie

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