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Ehlers-Danlos Syndrome User Group
Ehlers Danlos or Spina bifida occulta?
About This Group:

This group is for members with any form of Ehlers-Danlos Syndrome.We have this group to share info and support for each other. Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders characterized by articular hypermobility, skin extensibility and tissue fragility. Individuals with EDS have a defect in their connective tissue. It is this tissue that provides support to many body parts such as the skin, muscles, ligaments and organs. The fragile skin and unstable joints found in EDS are due to faulty collagen. Collagen is a protein that acts like glue in the body adding strength and elasticity to connective tissue.

Founded by somemonkey on September 22, 2009
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Ehlers Danlos or Spina bifida occulta?

Hi,
My daughter has been diagnosed with Ehlers Danlos (she and I were both diagnosed as hypermobility type, but I think it might be a cross-over of hypermobility and vascular) and spina bifida occulta at Emory in Atlanta.  She has suffered with various problems her entire life, but they have gotten worse these last 10 years.  She was able to get her accounting degree and worked for 1 1/2 years, but had to quit due to her health and she couldn't afford the COBRA payments, so we have been struggling along paying for prescriptions and medical help as we could.  With all her symptoms, I don't know where to turn and need to know what to concentrate on...the EDS or the spina bifida.  She is now 28 and is living back with us and lost the love of her life after 5 years of dating.
Here are her symptoms:
Severe constipation since birth
Severe abdominal pain on and off since birth
Severe back pain upper and lower off and on through her teenage years and still now
She has had repair of rectocele, enterocele, re-attachment of her uterus (she had no tendons to attach it to)
Eye laser surgery to reduce the pressure in her eyes
Soft, smooth skin
Bruising - you touch her and she bruises - I also bruise very easily
Veins easily seen through skin - mine too
Reflux - me too
Severe headaches/migraines - me too
A lot of diverticulitis pockets
She had a Anterior Lumbar Interbody Fusion (ALIF) for protruding disc, degenerative arthritis, stenosis, spina bifida occulta was seen (I think it was almost the next level - the opening was large enough the cord could have moved in and out).  ALIF was for severe lower back and leg/buttocks pain, but this occurred right after repair of her vaginal area and her urologist believes it was the technique they used and there is nerve damage.
She has to self-catherize to urinate, but still goes all the time.
She can't eat any fiber - it doubles her over and she is in agony for a week
She is now having trouble swallowing and we paid for her throat to be stretched, but she is still having problems with food going up her nose.  I had trouble when I was pregnant with swallowing and I think it was due to the laxity. I still have problems when stressed.
I have had some dislocations, she can just do really weird things with her limbs.  We used to laugh about it, but aren't laughing anymore.

I am desperate.  I feel I am losing her.  Please help us!!
Sugibear
11 Comments
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I forgot to mention more symptoms regarding Ehlers Danlos or Spina Bifida Occulta post:
I have severe sleep apnea and I think my daughter might
My mother won't admit she has Ehlers Danlos, but she also has the classic signs, redundant skin, smooth, bruises easily.  She has also had over 15 major operations for intestinal blockages, and is blind from Retinitis Pigmentosis.  We have to be checked for that when we go to the eye doctor.
Anyway, I really need to know which syndrome/disorder is causing the most problems for my daughter.  I am very concerned and don't know where to turn for help.  We have no more money.  She applied for disability, but was denied - unbelievable!!  We are thinking of appealing or filing a new claim, but she needs help NOW!
I wonder also if she may have chiari malformation or tethered cord syndrome.
Also, the gastro dr. just says for her to keep her intestines cleaned out b/c any pressure from food or gas in her intestines causes her to be in the bathroom 6 - 8 hours until it passes.
She is on med for mild depression - no surprise there and suboxone for her buttocks and leg pain.
She is only 28 years old and is the best daughter.
Please help us!
Sugibear
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Hi and welcome....I can not answer all ur questions as I myself am new to my EDS dx.
But I do have  a few questions for u.....y didn't they test either f u for chiari  syringomyelia or tethered cord?

Many of what  u describe sounds so much like my chiari symptoms...I also have TC....

And as for not having insurance, is there neway she can get on aid of some kind?


"selma"

PS- U can keep adding to one thread  by posting a comment : )

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Hi and thanks for your post.

I have done a lot of research on EDS and have also thought of the chiari syringomyelia or tethered cord b/c her symptoms are so along those lines.  It's confusing b/c one doctor thinks its EDS and another thinks its the spina bifida.  I think its a combo.  She had some problems last week, so we had to make an appt. with the urologist Feb. 23.  I'll let you know what he says.

We are trying to get disability, but were denied the first time.  They say this is common, so we are going to get an attorney to help us re-file.  Hopefully, we can go that route.

I saw where there is an Ehlers Danlos conference - see ednf.org again this year.  We haven't been able to afford to go, but I am thinking of trying to go somehow this year.

It's hard b/c she looks fine, which they say is one of the problems of EDS patients.  But, her body is like a 70 year old's inside.

Thanks again.
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I know how she feels and I do have the chiari , tethered cord, DDD and stinosis to deal with as well as a thyroid issue...it is very hard to know which condition is causing which symptoms.They all tend to have overlapping symptoms.

U may want to stop by the chiari forum here on MedHelp and get some more insights on that condition and related issues.

Good luck and let me know what u find out.

"selma"
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My daughter has tethered cord syndrome and is currently being assessed for EDS, she has the soft skin, bruises easily, is very hypermobile, and has the blue sclera.  She was found to have tethered cord (spina bifida occulta) when she was several months old.  This was dx via a MRI of her spine.  It was suspected as she has a sacral dimple at the base of her spine (at the top of her bum).  She had surgery to correct this and has been a different child since.  Before the op she would scream in pain and just would not settle, she was too young to tell us what was wrong.  I would definately try and get a MRI done (if you haven't already).  Also, tethered cord and EDS are often found together.

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Unfortunately, there isn't much that can be done for ED.  They can give you pain pills and muscle relxrs., braces to support (knees, ankles, wrist etc.) and watch you for possible other issues with the eyes and internal ruptures.  I think maybe the tethered cord may be causing some of her leg and buttocks issues.  It really affects the nerves in that area.  Selma could tell you more about that.  If she has Chairi, it can cause other issues that also affects the nerves and function of the body.  Since there isn't much to be done for ED maybe one of the other areas would be the place to start since funds are limited.  (Just me thinking out loud.)  
Poor thing, she would just be miserable.  Have you tried digestive enzymes so that at least maybe she won't be malabsorbed and will get some of the nutrients from her food?
Also, allot of people are getting really good results from colostrum.  It soothes and heals the colon.  A guy I know who had to have some of his intestines removed due to Crohns, uses colostrum and coconut oil -- daily.  He no longer has to use steroids and does good if he watches his diet.  He can't do very much fiber either.
I just noticed that your original discussion was back in February, so maybe she is allot better now.  Keep us posted!!!!
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My daughter (6 years old) also has EDS and spina bifidia occulta... she had an MRI for tethered spinal cord which was negative.  However she has all the symptoms of nerve damage... neurogenic bladder and bowel problems and occasional leg weakness.  I'm going to have her neurologist check her out again.  People with EDS, especially the hypermobile type can have really low muscle tone which can cause all the GI and bladder issues, too.  I'm so sorry your daughter is going through so much.   Keep us updated.
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Many TC's do not show on MRI's and have been referred to as occulta (hidden) tethered cord.....

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I just wanted to thank all of you for your suggestions and encouragement.

Kelli is doing a little better and just trying to manage all of her problems.  She continues to struggle and I still want to check out the Chiari malformation.  She is trying to get a job, but with the economy it's been hard, and she desperately needs health insurance as filing for disability has turned into a nightmare, and she is tired of trying to get it.  She is taking a medical assisting/billing class we hope will enhance her accounting degree.  Since she doesn't have much experience due to her health and having to quit work for a while, business can now hire CPA's for what they were hiring these new students fresh out of college (thanks again to the economy and layoffs).  It's hard b/c she has good days and bad days to keep up with the class, but so far, so good.
Jalbro...I am so sorry to hear about your daughter at such a young age.  Kelli had problems, but they didn't get really bad until she was a senior in high school.  She has exactly the same issues as your daughter.  I will share this with Kelli.
Selma...thanks for all your info.  I so want Kelli to be checked for Chiari.  Hopefully, even if it's a part time job she can get some insurance, and we can at least get her checked for that.
You are all so very helpful.  I got down for a long time as each day was a struggle for all of us, so I didn't check this site very often.  May God bless you all, and I will try to keep up more often.  This is a wonderful site!!
sugibear
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no worries, do keep us posted : )
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Hi,
I wanted to let you know that my daughter's conditioned has worsened.  She was hoping she could get a job with insurance coverage (she had to quit her past job due to her health), but she admitted last night that she does not think she can work.  She is going to apply again for disability, and we are getting insurance quotes.  I'm contacting John Hopkins to see what kind of financial assistance they offer.  In the meantime, she is asking her urologist at Emory which gastro dr. there might be able to give us his opinion, as we are never going back to She is having more problems swallowing, digestion is almost null.  She eats yogurt and says it feels like a brick and she feels it move all the way through her body.  She can't stand any pressure on her bowels whatsoever now.  Please keep us in your prayers! Thanks, sugibear
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