Suggest Treatment For Ehlers Danlos Syndrome Hypermobility Type

Brief Answer:
Need neurological examination AND MRI of the spine

Detailed Answer:
Good afternoon from XXXXXXX OH. I've read your concerns. I must say that I am very sorry that you are having these sorts of issues with getting what I consider to be the standard and proper medical tests for such a problem. I am always at odds with my international patients in convincing other colleagues to at least agree to order tests. If they are negative, so be it, and life goes on but they can be staunch. I don't know how to counsel you to win that particular battle.

However, when I read your paragraph over as well as your family's history with your other children and also know that there is a strong positive family history for neural tube defects such as spina bifida (SB) and that your child's been diagnosed with EDS well, it's interesting and more than coincidental that we should be talking about her present symptoms of having trouble sensing when he's has had either a bowel movement or voided the bladder.

Now, I'm not going to launch into any rhetoric to try and VERIFY the diagnosis of EDS...but it's curious that they should've found such a thing because there is actually an EDS LIKE entity with an overlap of connective disease deficiency called Tenascin-X which is found in spina bifida patients. And of course, in your case if your son were to have such a problem it would be spina bifida OCCULTA...not the open form....they would've found that one on birth. And weakness in the legs or lower than expected tone in the leg muscles is also entirely consistent with the possibility of SB.

Doesn't matter if the reflexes are OK....SB occulta is a considerably milder form of problem than the open form which causes obvious and rather dramatic problems neurologically speaking.

Therefore, and in my opinion, if I were the parent I would make as strong an argument as possible that you be allowed a referral at the very least to a pediatric neurologist....OR....an MRI (don't settle for an X-ray, CT---MRI is the test of choice and is least harmful to the child of the spinal cord. You might try to compromise a bit and tell them that if the MRI is truly negative for any anomaly of any type then, you would agree to defer the neurologist's appointment...although by rights they should be giving you BOTH...and this should've happened eons ago!

Here are a few paragraphs I found in a reputable article I think you can print and take with you as support. Tell them a NEUROLOGIST SENT YOU! LOL....I know it won't phase them....it never does since telemedicine is taking the world by storm....doctors overseas as being just as deluged with collegial opinions that call them out for some of their decisions almost as much as XXXXXXX doctors are constantly being hounded by our patients who are being brainwashed by advertisements on TV by pharmaceutical companies who are telling patients to "Talk to your doctor about Product XX"......I can't tell you how WILD that makes me when patients recite THAT line to me!

But truth is truth and medical science is MEDICAL SCIENCE and the 2 are not mutually exclusive....therefore, screw 'em if they take your diligence in wanting to not settle for SECOND BEST when it comes to your son....and BRAVO by the way by sticking to your guns and getting the right answers:

I'll give you the resource information as well. The next 4 paragraph segments are what you are looking for if they try to stick you with a cheaper and less sensitive diagnostic test:

Plain images may suffice from the orthopedic point of view, but they provide little information of the associated malformations of the spinal cord and its coverings. When spinal malformations are suspected, investigation of the spinal canal and its contents are best performed by MRI.

Skeletal scintigraphy with technetium-99m diphosphonates has high sensitivity but low specificity. Bone scintigraphy is a useful procedure in children with backache of unknown origin. Minor vertebral anomalies may show increased radionuclide uptake because of abnormal stresses and reactive changes. Further imaging may be restricted when an abnormality is localized.

In cases of spinal dysraphism, MRI provides more information than myelography or CT in defining spinal cord anatomy. Sagittal MRIs are superior to CT myelograms in demonstrating the lipoma-cord interface. Individual nerve roots are less well seen with MRI.

In the evaluation of the spinal canal, ultrasonography is limited to the neonatal period, though a spinal defect covered with soft tissue may be imaged well into adult life.

Here is the internet biblio on that:

http://emedicine.medscape.com/article/413899-overview

Careful they don't try and sell you an ULTRASOUND either by telling you that it's the safest of all modality because in the first place....we don't KNOW that's true when it comes to the long term effects of ultrasound compared to something like MRI....but more importantly an Ultrasound is highly dependent upon the experience and diligence of the operator and can be easily messed up by someone who has never done a spinal dysraphism.


I hope this addresses your concerns and that you'll keep me in mind for future questions regarding these or other neurological/medical issues I may be able to help answer. Feel free to upload more specific information regarding lab tests and diagnostic studies if done and I'll be happy to look at them.

Otherwise, I'd appreciate your rating this interaction with a HIGH STAR SCORE and would be grateful for a few words of feedback. In addition, I'd appreciate your CLOSING THIS QUERY if you're satisfied with the responses.

Write to me any time at: bit.ly/drdariushsaghafi for additional comments, concerns, or to provide status updates if you'd like.

This consult request has taken a total of 70 minutes of time to read, research, and respond.

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Brief Answer:
May I suggest one thing that a GB patient did which seemed to work?

Detailed Answer:
I have many international patients from the UK and GB and one in particular tells the story of his being essentially pushed about for up to 12 years while he suffered from an genetic enzyme deficiency called Aceytlcholinesterase deficiency. For over a decade he was labeled schizophrenic, demented, personality disorder....and the truth was that this enzyme deficiency in fact, could cause many of the symptoms that made him appear all those things. But because nobody in 12 years of primary docs and specialists (mainly psychiatrists) wanted to perform any tests because they felt the explanation was plain as day....the real diagnosis which came out through a special lab assay was never realized. However, he was not satisfied by their lackadaisical attitude and continued to fire one PRIMARY after another until he found one that was willing to look into the text books a bit....as well as the copious notes he had amassed over 12 years describing his symptoms and their response to the medications (which were either zilch...or magnification and worsening of symptoms). Therefore, may I suggest that you request another primary care center to take care of you and find a primary who is willing to not just listen but who wants to make the RIGHT DIAGNOSIS on your child given the vast amount of information available that says that there IS AT LEAST A CHANCE that another diagnosis is valid...not just the status quo simply because 100 sheep wearing stethoscopes say it's so......

Please write me any time at: bit.ly/drdariushsaghafi for additional comments, concerns, or to provide status updates if you'd like. I'm terribly sorry that there's no more that I can do to help further your cause....it really is quite annoying and makes me seriously question the quality of those who have claimed to be of the same likeness in my profession as I am in terms of

#1: Above All Else "Do No Harm."

and

#2: Search for the BEST explanation given the facts even though at times it is by far not the SIMPLEST nor MOST OBVIOUS

Perhaps, you can use those statements above to try and bite some of your doctors' consciences? But make sure they give you the FIRST APPOINTMENT of the day. You don't want to be in the appointment slot which stands between the doctor and his dinner plate either at home or at the Hamburger stand downstairs during feeding time!

Please don't forget a few brief words of how this communication has helped you...if at all. That would be most splendid as well as CLOSING THE QUERY if you have no further questions or thoughts on things. Of course, you can always write back to me at your leisure....I really would like to hear the results of any imaging study you might get as well as the thoughts on a neurologist (pediatric hopefully) that you may see....don't be afraid to kick someone in the shins if need be....all of us are rooting for you.

This consult request has taken a total of 98 minutes of time to read, research, and respond.

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