Chiari link to Spina Bifida and genetic implications

Dear All,

I was wondering if anyone has any information about this.   I have Chiari 1 plus a syrinx, and underwent surgery in April 2009.   There were lots of complications but everything seems to be mostly under control now.   So far, so good.  I had a follow up appointment with my surgeon just before Christmas and asked him about having children and the possibility of passing the condition on to them.   He said that so long as there are not other family members with similar problems there is virtually no chance of passing it on.   I went away happy and comforted.

However, over Christmas I found out that my older cousin has a form of Spina Bifida (it’s a long story as to why I did not know this already).   anyway, she hasn't had any tests since she was a child as she never felt the need to get to the bottom of what exactly is wrong with her.   But I know that there is a strong connection between Chiari 2 and a type of Spina Bifida...   does anyone know if this increases the likelihood that there could be some genetic aspect to my condition.   This is important as it not only affects me but my sister and other cousins.

I have read that there is some suggestion that the condition can be passed down, and I know there is a major study going on at the moment but I wanted to pick everyone’s brains to see if anyone has discussed this with their specialists before.   I would talk to my surgeon, but I am not scheduled to see him for another 12 months!

Thanks in advance.

[selmaS]

Hi...I also have a cousin with spina bifida and I know there r studies going on now to find a connection  of genetics and chiari.

There r also families with more than one member with chiari, so , I must disagree with the dr that felt there is not even a chance of passing it on....IMHO I think there is.

I pray I am wrong, and I do have a child and so far seems to have been passed over on this.....but, I would find a OBGYN that has knowledge on chiari and spina bifida  that can monitor u so u know what is going on.Plus, the dr should know that a C section is advised for those of us with chiari.

"selma"

[rod44]

There are strong links between low Folic Acid during pregnancy and spina bifida, This is some thing you may want to reserch

Ray

[katemac]

dear both,

thanks for your responses.   i had not been informed previously that a c section was advised, that's good to know!

I am in the UK and there is a service offered on the NHS called genetic counselling, which i have requested.   it means you get to see a specialist in genetic disease and they can analyse the chances of passing on conditions to future offspring.   as it's the NHS the appointment won't be for a few months, but if anything interesting comes up i will post about it.

[selmaS]

U r so welcome...and I am sure the genetic counselors will help u get the best neonatal care .

Do keep us posted on ur pregnancy : )

"selma"

[Spaceystac]

When I was a child, my mom took my sister and I to Shriners hospital. They looked at me for the scoliosis that my school found when they did testing. They did full body x-rays and found that my curve was minimal, but most definitely there. I remember when we were looking over the x-rays with him, he point out things like my neck being straighter than normal, where the curves were, but i destructively remember him saying something about a opening in the bottom of my spinal column closing just before i was born. Apperently he saw something that just barely fixed its self before birth? Is it possible that I almost had spina bifida occulta? I should look through my medical records and see if he noted that in my findings.

[selmaS]

I am sure if u get a thorough  check if u indeed have this they should be able to find it...occulta means hidden, so it is barely closed over, but not the way it should be.

Keep us posted on what u find!!

"selma"

[Spaceystac]

Ok here is one this I have found so far. Exam date: May 30, 1997.  Age 14:                    
Neurologic: Cranial nerves  II through XII are grossly intact with no acute motor or sensory deficits. The deep tendon reflexes are 2/4 in the bilateral biceps, triceps, and brachioradialis. Bilateral petellar reflexes are 2/4. Bilateral Achilles is 1/4 Babinski's are absent.           So am I really reading this right? I have had Neurologic issues present sense I was 14.  Does this mean that I have pretty much all of the different issues that you can possibly have with this disease? I so scared!!!    
X-ray findings: Examination of the standing long film of her posteroanterior and lateral spine reveals a mild oblique take-off of her lumber spine. There is no appreciable rotation in the patients curve, and it appears to be less than 10 degrees in magnatude

[selmaS]

Sorry....really not sure what this all means......never saw the 1/4 babinski's...which I feel means only 1 out of 4 ...so that is nothing for concern...if I am interpreting it correctly...which I am sure I am not....wish I could help with this.


"selma"

[rod44]

I am not a Doctor and just know some of this from my own experences with CM/SM

Babinski's sign is when your toes respond in a specific way to stimulation and would indicate spinal cord issues so I assume when they are absent it is a good....

Cranial nerves  are the nerves that control sight, sound balance etc and again this looks good.
I dont know about the  deep tendon reflexes.

It is important to compare this with a recent Neurological exam to see if there is any deterioration