Neural tube defects and family connections

Hi all,

First, thank you for providing such a great site! I have been glued to my computer since I found it 4 hours ago.

I have been spending a lot of time doing online research since I first heard about Chiari Malformation in December. I had a lot of the symptoms. In January I had an MRI, and in February was diagnosed. So, in my four months of research, I have developed a couple of theories, and a couple thousand questions.

Here's what I understand, and correct me please if I am wrong....

For many, the Chiari Malformation Type I is due to a small posterior fossa, not enough room in your skull for your brain.

Small Posterior Fossa is described as a neural tube defect.

Neural tube defects have been linked to a shortage of B-vitamins in the mother.

B-vitamin deficiencies can be for a multitude of reasons, but some of them are gluten allergies, pernicious anemia, multiple sclerosis, lack of intrinsic factor in the stomach, and being a vegetarian (many but not all vegetarians have a hard time getting enough vitamin B).

I have read multiple times of Chiarians being B & D-vitamin deficient.

My top 5 questions to all of you would be:

1. Do you have reason to think your biological mother was vitamin B deficient during her pregnancy with you?

2. Is there a family history on either of her (your mother's) parents sides of gluten allergy, pernicious anemia, MS, lack of intrinsic factor, or vitamin B deficiency?

3. Was your mother, or her parents, vegetarian?

4. Do you think your mother ate fresh fruits and vegetables during pregnancy, or if her mother did? My mother & grandmother loved sweets, baked goods, bread, chocolate, mayonnaise....so maybe not the most nutritious diet (but who knew differently then?).

5. Do you, as many others do, have someone in your family who has EDS (Ehlers-Danlos Syndrome) or Hypermobility Syndrome? I have an aunt and several cousins who have no problems putting their palms on the floor while keeping their legs perfectly straight, along with other amazing feats of flexibility.

Quick history on my family: no, we do not belong to the circus ;)

My mother has MS (almost all people with MS are B-12 deficient), diagnosed about 1 year after my birth. She had migraines, fatigue, easily bruised, pale skin, dark circles under eyes as long as she could remember. I am confident she had a B-vitamin deficiency from an early age, although she was never tested. Her mother had peripheral neuropathy. I have a suspicion she might have had Chiari, but I have not been able to access the MRI they performed shortly before she passed away. My maternal grandfather said he had a headache his whole life because of a "bone in his brain", but no one knows how that was diagnosed (my grandmother & grandfather are both deceased). His parents were mainly vegetarian, and his sister (maternal great-aunt) was very similar to my mother, low energy, pale skin. My sister had scoliosis, and B-vitamin deficiency which required a hospital ER visit when she was 10. Both of my siblings, along with myself, have dark circles under our eyes, migraines, and sleep apnea.

So my theory would be: Chiari could be caused by B-vitamin deficiency in the mother during pregnancy. Mother could be B-vitamin deficient due to multiple reasons, and this could be genetic (celiac, lack of intrinsic factor, etc), and passed to her from one or both of her parents. This could explain why Chiari can run in families, as other people in the family would be vitamin B deficient as well, and in the case of genetic vitamin B deficiency, even while supplementing with B-vitamins, the body may not process them very well. I think it would be interesting to see if the EDS gene and the Celiac gene were found in Chiarians.

To finish, these are my thoughts on hours of research conducted online only. I try to take my information only from reputable medical sources (research and educational publications), but this is my opinion only. I feel that many of us have ideas on what causes this, and we are the only ones who know what our family history holds. So I am curious if any of you have a similar family history?

Take care,

Mandy

My mom has never been diagnosed with any vitamin deficiencies but I suspect she could have latent celiac disease. I have celiac disease and she shares some of the symptoms I had before I was diagnosed but she insists those are normal and won't get checked. She refuses to try a gluten free diet but then again she is 73 so I guess she feels she's doing pretty good! She eats meat but prefers fruits, veggies, and grains.

I have never been diagnosed with EDS but I can touch the floor with my palms. I think in my case it's just being a bit flexible because I have no other symptoms. No one else in my family displays any abnormal flexibility.

There is a lot arthritis in my maternal family. My aunt has very bad RA and my mom and myself have Ankylosing Spondylitis.

Hi Mandy, it is nice to have another shoulder to lean on. I havent been in this community very long but the other members are so nice and helpful!

I was reading your posting and have also wondered if anyone else in my family has CM. The bad thing is that no one ever thinks to test for this and it is just stumbled upon. I had gastric bypas surgery in 2002 and I constantly have vitamin level deficiencies. I dont get the vitamins from my food and taking vitamins dont work well either. I take shots but even with that its a never ending battle.I know that is making me more achy and tired.

Mandy,

Great Research for a newly diagnosed Chiarian. You have learned more in a short time than many do in years.

I can help you with Research or Information on the following: I have them all - Spina Bifida Occulta, Geniculate Neuralgia (Cranial Nerve Disorder) CM1 & POTS....To complicate the situation I am the daughter of a Navy Seal contaminated with Agent Orange, so I am 2nd Generation Dioxin contaminated.

Dystaunomia includes POTS and is very extensive and complex. I was just diagnosed in December. Talk to Abby & Beeba. They are incredible. Abby is great with EDS also. Just the Members on this forum that have a type of Dystaunomia will boggle your mind with the symptom differences, but so does Chiarians. Non are alike.

Research Dr. Alessio Fasano - He is linking Gluten Sensitivities (not Celiacs) Causing Autoimmune Diseases - He is brilliant - There are some great podcasts about his research. He also published a Paper in 2011. If you can't find it let me know. Also be very careful about corn. Unless it is grown indoors with virgin seeds it is cross pollinated. If you had normal corn chemical breakdown you will find it has gluten also. I can put you in touch with several scientists and provide the data. One is a Member of another Ben's Friends Forum and I am sure you two could have some great conversations.

Please never feel like a Baby here, we all understand. It's great meeting you. I look forward to getting to know you further.

Tracy Z.

great post

My husband gives me B12 and B complex shots every week and I take a 50,000 iu pill of Vit D weekly and also a daily D pill. Anything that I take orally I dont get much out of. My gastric bypass doctor also said that it is the same way with my pain meds that is why I have to take higher doses and then I end up with massive headaches. I lost 156 lbs but if I knew I was going to end up like this I dont know that I would have had the surgery.

Mandy said:

Hi Sparky,

I have a friend who had gastric bypass, and she has the same problem with vitamin absorption. Have you tried liquid vitamins yet? Do you notice a difference with any of your supplements? I like the vitamin D3, it's the best (for me) to keep a positive mood. I take sublingual B12, which helps some with energy, but I haven't found anything that puts me even close to normal for energy. Any luck with something for the body aches? I've tried cod liver oil for inflammation, but I don't notice much of an improvement in body aches.

I feel the same way, I think there might be others in my family with CM.

I agree completely, for the first time I feel like other people know what it's like to be in my head :) Everybody here is so great!!!

Take care,

Mandy

SparkyID7 said:

Hi Mandy, it is nice to have another shoulder to lean on. I havent been in this community very long but the other members are so nice and helpful!

I was reading your posting and have also wondered if anyone else in my family has CM. The bad thing is that no one ever thinks to test for this and it is just stumbled upon. I had gastric bypas surgery in 2002 and I constantly have vitamin level deficiencies. I dont get the vitamins from my food and taking vitamins dont work well either. I take shots but even with that its a never ending battle.I know that is making me more achy and tired.

Thanks for the info on the sites. I will ask my doctor about the vitamin I am supposed to be scheduled for a sleep study but my problem is the pain wakes me up. Over the last 10 years I have been on ALOT of different pain meds because my body gets used to them so fast and then they dont work and I dont like taking them to them max dose because when you do that where do you go after that? I have been on lidocaine (didnt work) I was on Fentanyl for awhile also. The bad thing is you cant just go into the doctors office and say I heard that this medicine really helps with pain because then they look at you like your just a druggie.

The damn pill freaks have made it so hard for us people that really need pain relief and its a discrace!! Thank you again :)

Mandy said:

Thank you Scott :)

SparkyID7,

I am really sorry, from what I read about your posts, it looks like you are living with chronic pain. I too have been trying to improve the quality of my symptoms with supplements, but it doesn't touch the pain some days. Have you had any success with pain relief? Have you had genetic testing? I know it seems off-topic, but I've read that some genetic variants create difficulty in metabolizing specific vitamins. Here's a very technical article about genetic disorders of vitamin B12 metabolism:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2995210/

I don't understand most of it, but if B12 is one of the vitamins your body is having problems processing, there is a whole list of symptoms that go along with it.

Here's a link for Folate malabsorption:

http://ghr.nlm.nih.gov/condition/hereditary-folate-malabsorption

I've not used it (yet), but my Nurse Practitioner advised the website 23andme.com is probably one of the more cost effective ways to find out which genetic variants you possess. Then you can google the variants and see how to overcome the absorption issues.

If I understand correctly, many of the absorption issues are caused by the gastric bypass. Obviously the B12 injections overcome that problem (usually), have you had the opportunity to try a vitamin IV? A prior naturopath used this on my friend who had the gastric bypass, she had good results. I'm not sure which vitamins she used, but it was at least the B complex and D, I believe there were a couple of extras in there.

Also, have you had a sleep study? I notice the days that I forget to use my CPAP are usually more painful.

And last, but not least, is a pain patch a possibility for you? Here's another link for a lidocaine patch:

http://www.ncbi.nlm.nih.gov/pubmed/11014393

I am keeping you in my thoughts, I hope tomorrow is a better day for you :)

Mandy

Tracy,

Hi- I am new here but would like to discuss Agent Orange with you. Another member also commented re her father being either later in Vietnam or not going...The VA is finally admitting the dioxins were used on U S bases before Vietnam and are in fact paying some claims for children and grandchildren. Most claims denied if father was not in Nam before birth. Mine was there after so uphill battle but some have won. Have websites that give great detail but not sure if allowed to post or know how to private msg on here so far but please contact me at your convenience and any of you guys interested can do so. I have many bad days and am not able to get on here much but don't give up on me please...I will respond. Thanks

Mandy said:

Hi Tracy Z,

Just a quick reply, my brain is getting ready to shut down :) Thank you so much, I am very much looking forward to talking to you more. Reading and researching is what is keeping me positive. At first I was really excited that finally I had the answer to what was wrong with me, why I was tired all of the time. Once I figured out that surgery was the only fix, I got a little down about it. Not ready for surgery yet, but very ready to find out everything I can to be more informed and hopefully at some point scientists will find out the cause and no one will suffer from this again.

That is excellent information about the corn, we have been eating a lot of it since going gluten free.

Dysautonomia is very curious from the few things I have read so far. Looking forward to doing a lot more reading.

When I have more brain power I will send you a few questions if you don't mind?

Take care,

Mandy

TracyZ said:

Mandy,

Great Research for a newly diagnosed Chiarian. You have learned more in a short time than many do in years.

I can help you with Research or Information on the following: I have them all - Spina Bifida Occulta, Geniculate Neuralgia (Cranial Nerve Disorder) CM1 & POTS....To complicate the situation I am the daughter of a Navy Seal contaminated with Agent Orange, so I am 2nd Generation Dioxin contaminated.

Dystaunomia includes POTS and is very extensive and complex. I was just diagnosed in December. Talk to Abby & Beeba. They are incredible. Abby is great with EDS also. Just the Members on this forum that have a type of Dystaunomia will boggle your mind with the symptom differences, but so does Chiarians. Non are alike.

Research Dr. Alessio Fasano - He is linking Gluten Sensitivities (not Celiacs) Causing Autoimmune Diseases - He is brilliant - There are some great podcasts about his research. He also published a Paper in 2011. If you can't find it let me know. Also be very careful about corn. Unless it is grown indoors with virgin seeds it is cross pollinated. If you had normal corn chemical breakdown you will find it has gluten also. I can put you in touch with several scientists and provide the data. One is a Member of another Ben's Friends Forum and I am sure you two could have some great conversations.

Please never feel like a Baby here, we all understand. It's great meeting you. I look forward to getting to know you further.

Tracy Z.