Need Help Getting CTD Diagnosis

My 11 yo daughter has Eosinophilic Esophagitis and last year began having loose joint issues, tearing of Achilles tendon, poor control of her feet and hands - thus more injuries. In my constant health research online, I stumbled across EDS...it explains and describes she and I perfectly (including the pregnancy issues).

We've just seen a rhumatologist who gave her a dx of hypermobility, but as I understand people can have a combination of connective tissue disorders?

How do both of us get tested and diagnosed fully? What type of Dr. requests or runs the necessary testing?

There is now a newly named disorder linking EoE to CTD aptly named "EoE-CTD" (lol - brilliant!) but I need a Dr. who can help us navigate both.

My daughter is now tube fed and on elemental formula - even with that she is having trouble with her esophagus feeling "clogged" or squeezed to the point where it's hard to swallow spit or drink water. - I think it's CTD related since her last biopsies on formula came back Eosinophil free.

Any help and direction for testing and medical care is much appreciated!

Hugs to all!

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Oh, forgot to mention...we are located in Greenville, South Carolina - but have and will travel as needed.

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Hello scEoEMommy and welcome,

Diagnosis is done through examination. An EDS exam for diagnosis probably will include testing skin for what it feels like, how much it stretches; the Beighton Score http://hypermobility.org/hypermobility/do-i-have-hms/beighton-score/ and/or the newer Brighton Score http://hypermobility.org/hypermobility/do-i-have-hms/the-brighton-score/ for testing hypermobility, taking a look at your medical history to figure out what EDS symptoms you may have shown in the past and whether you inherited EDS. Your family’s medical history as far back on both sides is also considered during the assessment. It might also include an echocardiogram if heart or vascular issues are suspected, or other tests depending on the symptoms and doctor.

There are genetic tests for some of the types that can confirm a diagnosis, but can't be used to rule one out in most cases; if you don't test positive genetically, that doesn't mean you don't have EDS. We simply aren't sure of all the gene mutations yet. The exam for EDS is a good, thorough basic physical examination. Classic type has a test that catches more than 50% of cases; Hypermobile type has no test, although there's a possibility at least one of the causes has been identified (Haploinsufficiency of TNXB Is Associated with Hypermobility Type of Ehlers-Danlos Syndrome http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180584/ this is probably a cause of some forms of Hypermobile type). The test for Vascular type is 95+% accurate now; the rarer forms also have well defined tests.

Any doctor, really, can diagnose if they can know enough about how to assess the diagnostic criteria (for more look at http://www.ednf.org/index.php?option=com_content&task=view&id=1352&Itemid=8 8888970). They're not complicated. However, most people wind up at a geneticist's office because it's hereditary.
There are some doctors who refuse to diagnose EDS because it's so rare—this is just bad logic; of course it's rare if no one diagnoses it because it's rare. Rarity of a disorder has nothing to do with whether or not it applies to you personally. You will find doctors who don't want to diagnose it because it's not curable. Remind them that even though it has no cure, the symptoms can be treated, and knowing you have a type of EDS gives you and your medical team some idea of where problems might come from and why they're happening; if there ever is a cure, at least you'll all know to use it; and the more of us who are diagnosed, the more likely it is EDS will get the attention we all need and the more likely researchers will work on finding a cure. Even knowing what type you have, your own case of EDS will be your own case; while knowing what might happen is helpful, you'll probably have only a subset of symptoms and not the whole set.

EDS is a collection of genetic collagen defects. Each type of EDS is defined as a distinct problem in making or using one of the types of collagen. Collagen is also the most abundant protein in the body, so effects can be wide-ranging in both location and severity. Collagen is what the body uses to provide strength and elasticity to tissue; normal collagen is a strong protein that allows tissue to be stretched but not beyond its limit, and then safely returns to normal. With badly built or processed collagen, some of the tissue in your body can be pulled beyond normal limits, causing damage. Collagen is the most abundant protein in the body and can be found almost anywhere, in skin, muscles, tendons and ligaments, blood vessels, organs, gums, eyes, and so on. EDS is really pretty "invisible". Some of the effects can be seen, but not all. Pain, for instance, can be widespread—it's amazing how many places collagen is used in your body, including the fascia, the "Saran Wrap" that holds everything together and wraps around your entire body—but the pain isn't going to show up in MRIs or X-rays, and will be probably be out-of-proportion to anything they can find.

You can find the genetic tests off the NIH's main page for EDS genetics, http://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome — the tests are identified in links at the bottom of the page.

For more information on specific types from NIH, also check out

• Ehlers-Danlos Syndrome, Classic Type http://www.ncbi.nlm.nih.gov/books/NBK1244/

• Ehlers-Danlos Syndrome, Hypermobility Type http://www.ncbi.nlm.nih.gov/books/NBK1279/

• Ehlers-Danlos Syndrome Type IV Vascular http://www.ncbi.nlm.nih.gov/books/NBK1494/ and http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1971255/

• Ehlers-Danlos Syndrome, Kyphoscoliotic Form http://www.ncbi.nlm.nih.gov/books/NBK1462/

• COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy http://www.ncbi.nlm.nih.gov/pubmed/21637106

Here are a couple of EDNF publications that might help:

What is EDS? http://www.facebook.com/note.php?note_id=10151543135885657

Pain, Physical Therapy, and Pain Management 2012 http://bit.ly/J9vZ8W

"So You Think You Might Have EDS?" http://www.ednf.org/index.php?option=com_content&task=view&id=1777&Itemid=8 8889242

An over-view of EDS which points out a lot of the problems is Dr. Clair Francomano's "Ehlers-Danlos Syndrome Update 2011: What We Know—And What We Don't Know" presentation at the 2011 EDNF conference, http://www.ednf.org/images/2011conference/Handouts/Francomano_EDS2011_What_ We_Know_2slides.pdf

The Prevalence of Non-Surgical Complications in the Ehlers-Danlos Syndrome http://www.ednf.org/index.php?option=com_content&task=view&id=1256&Itemid=8 8889208

What is EDS? http://bit.ly/II6QDW

Ehlers-Danlos Syndrome http://www.ednf.org/index.php?option=com_content&task=view&id=1650&Itemid=8 8889208

What are the types of EDS? http://www.ednf.org/index.php?option=com_content&task=view&id=1348&Itemid=8 8888969

The "EDS Guides" menu (on the left at http://www.ednf.org/index.php?option=com_frontpage and throughout the EDNF site) includes:
EDS in Practice: Pediatric and Adult Clinical Checklists
EDS Medical Resource Guide 2007
EDS Medical Resource Guide 2010
Dentistry Medical Resource Guide
Emergency Room/Surgery Booklet
Guide to EDS Child
Ophthalmology Medical Resource Guide
Pain Mgmt Medical Resource Guide
Pain & Pain Management 2012
Physicians Directory
Ritter Rules
Sports Poster
Vascular Medical Resource Guide
Vascular Primer
VEDS Clinical Reference Manual
EDS Wallet Card

And just for informational purposes about the forum settings in addition to the Community Guidelines (http://www.inspire.com/about/guidelines/) at the bottom of each page...

The default setting for every discussion or journal is “Shared with public”. This setting means everything you write in your post and everything anyone writes in reply is viewable to anyone in the world with an internet connection. This is a very good setting to use for things like support group announcements, awareness activities, and similar topics. There are, however, many members who will not respond to a thread shared with the public.

“Shared with members” means the discussion or journal entry and its replies can only be seen by the members of this forum. This is a layer of privacy, so it is more appropriate when discussing medical history, medications, children, or other personal information you would not want the whole world seeing. This is also the setting the members respond to in the largest numbers.

“Shared with friends” is the most secure setting and means what you write and any replies will only be viewable to those on your “Friends” list. This is a useful setting if wanting to discuss something you just want opinions from those you “know”.

When you first write a discussion or journal post, click on the bubble of your choice before posting....obviously, this is much simpler than going back and doing it after the fact.

Of course, for complete privacy, sending a private message to another member is the most secure of all (you do need to send a friend request first to become “friends” before messages can be sent between 2 members).

To change the setting to “Shared with members”, click on “Options” by your title, choose “Edit”, scroll down below your text and select “Shared with members”, and finally “Post”.

Gentle hugs...

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I have heard of people with EDS having EoE as well! If I were you I would set up an appointment with a geneticist who specializes in EDS. They will be able to determine what type of CTD she has. Does here tube go through ther nose or abdominal wall? I have talked to people who have an NJ or NG tube and complain of how uncomfortable it is while running feeds.

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Thank you both for the replies! Wow - tons of info to review (and I will)!

My daughter being 11 y.o. I knew she would not put up with an NG tube and I felt it would crush her self esteem more than her gastric tube. Hers is directly positioned at the base of her stomach. Initially she had what is called a PEG- which not only was a painful surgery but having about 8-10" of tubing and a clamp dangling from the incision was quite painful and awkward as well. Our surgeon advised us it was safer and produced a "cleaner channel into her stomach through the abdominal wall than if we went straight for a Mini or MicKey button installed first". So she had the PEG placed in October and 6 weeks later she had a Mini button installed in November. For each surgery, once we got past the first week to 2 weeks, she was hardly uncomfortable unless she accidentally bumped or moved it - we're told it will heal just like an ear ring hole. She loves the Mini button now and that it is easily hidden under clothes, she then connects and dis-connects a smaller tube when it's time for feedings (she does 3 during the day and 1 all night). Feeding doesn't cause any discomfort; although with the mini tube it was painful to connect her up for the first few days (it snaps in then you have to rotate the tube to open the port) so we just left it connected until she had healed a bit more.

I will say that my daughter seems to have severe sensitivity to pain - pain causes her to panic which then makes the pain worse and worse, a scrape or headache may be rated by her as high as this surgery (worst pain ever) but certainly this surgery was the most painful thing she has experienced. I'm not sure if this is due to her age or if it's just one of her many medical challenges or perhaps even the CTD? The surgeon didn't expect her pain to be as bad or as out of control as it was after the first PEG tube surgery; we spent 3 days in the hospital with about 3 major pain meds on continuous cycle until her pain was under control enough to start feedings and come home.

None-the-less as parents we're happy with our decision to tube feed her before nutritional deficiency became a real problem (cellular death and damage could occur otherwise). She is alive, and her body has responded extremely well to elemental nutrition. She has gained 3 much needed pounds and grown 1/2" thus far!

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I used to have extremely high anxiety and sensory issues which caused me to react strangely to pain. Even though I had hip surgeries and reflux, I minor headache or even a stubbed toe would cause me so much pain. I'm 15 now and luckily I've grown out of that. I actually have a pretty high pain tolerance now!

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