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Chiari Hereditary or Genetic
Do they know yet if it's hereditary or genetic? Lots of conflicting information online. If so, should my siblings know? Even half siblings?
There is a chiari genetic study being done through duke university that my family is part of. I have identical twin boys, one with chiari, one without. My 5 yr old and my 13 year old daughters have a very mild chiari. Heres the weird part - i did not give birth to my 13 year old.....
COMMUNITY LEADER
Hi and welcome to the Chiari forum.
First, u can not assume u passed it to him as that research is still being done, but it dose seem to follow families, either side .,..mom or the dad....there is not a way to know , it is not a lack of vitamins at this time,...so no site to refer u to.
I personally feel I had this my whole life, went to Drs my whole life and could not get a dx until I was 48...and a yr later I did have surgery....3 yrs ago this past May.....
Surgery is something to consider if this is affecting ur DS's over all health...do make sure they test him for sleep apnea, syrinx, tethered cord,ehlers-danlos....and make sure to have his CSF flow checked.....
Hi ! Have you been dealing with chiari long ? I was diagnosed at 17 with it (30 now) and I've always just dealt with the symptoms but my son who is now 2 was just diagnosed on Thursday and his symptoms can be quite severe , constantly falling , vision problems , headaches . We are seeing the head of neurosurgery on the 21st and I'm afraid they are going to want to do surgery. Have you had the surgery and do you know of any sites that may help me with finding out how I passed this down to him ? Thank you .
Jen, you made some good points.. I think waiting to disclose when there are actual symptoms is a good idea. Thanks for the responses everyone!
Whoops, yes, I meant to say herniation, not Chiari.thanks for catching it!
As for telling your family members, I would suggest you only share the possibility of a genetic link if any immediate relatives have clear symptoms suggestive of CM or SM.otherwise, you set up people for needless worry and potential issues with various types of insurance. For example, if you were to take MRIs or full body scans of anyone who is older than about 21, you are going to start seeing various potential issues and degeneration which is the natural aging process. If you are asymptomatic, there is no reason to open that can of worms and many reasons not to. Health insurance and life insurance, long term care insurance, etc. All require FULL disclosure of any known problems. If you have your asymptomatic children scanned and they have the potential for herniation, they are now in a position to have to disclose this to any potential insurers rather than waiting and seeing if it ever becomes a problem. As many of you know, it is suspected that many more people have the Chiari malformation than are known about because they will never herniate enough to have issues and therefore never have a problem. We all have lots of potential problems lurking in our bodies but I think it is borrowing trouble to go searching.
On the other hand, if a family member has suggestive symptoms, it certainly would be useful to bring it to their attention so they can decide whether or not to pursue the diagnosis.
I really hope that by the time anyone else in my family pops up with CM that they have much less traumatic ways of surgically dealing with it. Even now, there is some research being done into the possibilities of going in through the nose or neck to do some procedures near the brainstem. Wouldn't it be nice not to have to have your neck muscles cut?!!!
Jen
As for telling your family members, I would suggest you only share the possibility of a genetic link if any immediate relatives have clear symptoms suggestive of CM or SM.otherwise, you set up people for needless worry and potential issues with various types of insurance. For example, if you were to take MRIs or full body scans of anyone who is older than about 21, you are going to start seeing various potential issues and degeneration which is the natural aging process. If you are asymptomatic, there is no reason to open that can of worms and many reasons not to. Health insurance and life insurance, long term care insurance, etc. All require FULL disclosure of any known problems. If you have your asymptomatic children scanned and they have the potential for herniation, they are now in a position to have to disclose this to any potential insurers rather than waiting and seeing if it ever becomes a problem. As many of you know, it is suspected that many more people have the Chiari malformation than are known about because they will never herniate enough to have issues and therefore never have a problem. We all have lots of potential problems lurking in our bodies but I think it is borrowing trouble to go searching.
On the other hand, if a family member has suggestive symptoms, it certainly would be useful to bring it to their attention so they can decide whether or not to pursue the diagnosis.
I really hope that by the time anyone else in my family pops up with CM that they have much less traumatic ways of surgically dealing with it. Even now, there is some research being done into the possibilities of going in through the nose or neck to do some procedures near the brainstem. Wouldn't it be nice not to have to have your neck muscles cut?!!!
Jen
COMMUNITY LEADER
Chiari is the malformation of the skull not the herniation itself...many get that confused bcuz Drs will not consider us having chiari unless the herniation is of a certain length...which is 5mm, but that is old school info....
I agree MVA can trigger chiari symptoms...and for those with out chiari malformation it can cause low lying tonsils that will cause the same symptoms as if it was congenital.
Connective tissue disorders r related to chiari....not all with chiari will have them but a good number of us do.....and the same goes for auto immune issues.
It is funny how we can see it in the family even when it may not be dx'd yet.
First, please excuse me if I'm rambling. It's not a good head day for me today.
I'm definately going to message you. My youngest sister (there's 3 of us girls, we're 3 yrs from the oldest to youngest) has basillar invagination with CMI and EDS. I have CMI and EDS. My mom has EDS but no CM. My son, daughter, and nephew (middle sis's son) all have signs of slight EDS. Both my son and my nephew (same boy as above) get 'migraines' - and I often wonder how normal their supposedly normal MRIs are.
Anyways, I believe that there are certain things that could be hereditary and cause Chiari Malformations - other factors such as head trauma from a car accident, obviously aren't. However, size of cranium, connective tissue diseases, ect. those are hereditary and can cause CM sometimes.
Off to message!
I'm definately going to message you. My youngest sister (there's 3 of us girls, we're 3 yrs from the oldest to youngest) has basillar invagination with CMI and EDS. I have CMI and EDS. My mom has EDS but no CM. My son, daughter, and nephew (middle sis's son) all have signs of slight EDS. Both my son and my nephew (same boy as above) get 'migraines' - and I often wonder how normal their supposedly normal MRIs are.
Anyways, I believe that there are certain things that could be hereditary and cause Chiari Malformations - other factors such as head trauma from a car accident, obviously aren't. However, size of cranium, connective tissue diseases, ect. those are hereditary and can cause CM sometimes.
Off to message!
Dear Friends,
Yes, there is solid research that strongly suggests a genetic component for what is believed to be a SMALL percentage of Chiari cases. There is a major research study on this very issue being done at Duke. They are looking at DNA and blood and tissue from multiple members with Chiari in the same family. I met the director of the study last spring because I was interested in volunteering to be a study participant. She was very impressive and very committed to this research.
She did say that they do not believe that most cases have a genetic component but that because they do see many family clusters that there clearly are some.
I would encourage all of you who are have at least two or more family members with Chiari to consider volunteering to participate in the study. It mainly involves sending confirmation of the diagnosis by a qualified professional and blood samples-no big deal. I may be mistaken but I think that for the purposes of this study who have to have at least a 6mm Chiari to qualify. That is not to say they don't recognize that lower degrees still cause major trouble but more just that research studies have to have standardized criteria for participation. This is an EASY way for those of us with CM to really help others down the road and it doesn't require much effort.
The study is in the early stages and there are very challenging research barriers to figuring out the genetics of Chiari but she said they feel very positive about the work that they have accomplished thus far. Stay tuned!!
Send me a message if you want more info!!
Jen
Yes, there is solid research that strongly suggests a genetic component for what is believed to be a SMALL percentage of Chiari cases. There is a major research study on this very issue being done at Duke. They are looking at DNA and blood and tissue from multiple members with Chiari in the same family. I met the director of the study last spring because I was interested in volunteering to be a study participant. She was very impressive and very committed to this research.
She did say that they do not believe that most cases have a genetic component but that because they do see many family clusters that there clearly are some.
I would encourage all of you who are have at least two or more family members with Chiari to consider volunteering to participate in the study. It mainly involves sending confirmation of the diagnosis by a qualified professional and blood samples-no big deal. I may be mistaken but I think that for the purposes of this study who have to have at least a 6mm Chiari to qualify. That is not to say they don't recognize that lower degrees still cause major trouble but more just that research studies have to have standardized criteria for participation. This is an EASY way for those of us with CM to really help others down the road and it doesn't require much effort.
The study is in the early stages and there are very challenging research barriers to figuring out the genetics of Chiari but she said they feel very positive about the work that they have accomplished thus far. Stay tuned!!
Send me a message if you want more info!!
Jen
I remember the coop. Couldn't remember the rest of them. I remembered them saying some wierd "disease" and never thought of it again...never heard of it again....until all this. But it does seem odd that so many mother/daughter combos are out there.
COMMUNITY LEADER
U r talking about Julie Carter and her two DD's Jade and goodness I can't remember the other one's name right now...lol....they all went to TCI in NY
But they were living in a chicken coop....that was a few yrs ago....
The also have EDS and the one DD had to have a fusion, she is very stiff as a result and does not have the range of motion to turn....
It is families like this that give me the feeling that it is a fact, just waiting on proof.
"selma"
What made me even think to see if it was hereditary was an episode on Extreme Makeover Home edition where the mom and 2 or 3 daughters actually had to have the surgery.
Just curious. Have you read anything out there that states that it could be hereditary. I asked my doctor and he told me no, but I am beginning to wonder?
COMMUNITY LEADER
Hi...we all have been talking about this a lot lately and u can find other threads on this topic by using the search this community feature.
Research is still being done....
With the # of members that have multiple family members with the same dx
so I am with the theory that it is heredity and just waiting for them to find the proof.
Linnie, I also feel my dad has it as well, and he refuses to get tested.
"selma"
I'm in my 30's but have very young half siblings I don't see and if it is, I would want to be fair and let their mother know.
I also wonder about this because more and more people are joining this forum who have other's in the family that have chairi. I worry because my daughter is in her 30's and she is showing signs of having it. Due to no insurance sadly to say she can't have an MRI to find out. I can't inmagine the member's on here that have little ones who are dealing with this. I have also done some research and haven't found any thing stating that it is hereditary. My dear dad has passed but I would bet if he was tested he would of been dx with it. This is a very interesting question.?
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