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MightyMouse

Starting Physical Therapy Again

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hi everyone,

I know I've talked privately in messages to some of you, but I thought I'd fill you in on a few things. Some of you may have noticed that a while ago i took the EDS dx out of my signature (I have to still update my personal website--I'm about a year behind on that!!). A few months ago, I was seen by a team of genetics specialists. At that appointment, they removed my EDS dx but gave me another genetic dx that involves generalized joint laxity, collagen and fibroblast issues. The symptoms have a great deal of overlap with EDS III, but it's genetically distinct.

I'm in my process of having my genes karyotyped to find a specific genetic error in the gene FGFR3. It'll be months before I have the final answer--it wont change my treatment course much except for the fact that if I am positive for FGFR3, I'll need to tell my mother and sisters b/c they likely have it too, and some of their kids as well, and it has implications for surgeries in the future to free up joints that may develop arthritic issues--the disorder involves ossification (turning to bone) of cartilage.

I am having progressive issues with pain and spasms throughout my spine and major joints. My blood pressure and heart rate have been unstable, although I am thankful for small gifts like the fact that my guts have been more reliable the past few weeks. I am also having memory and attention problems. My neuro, who has been awesome throughout, had me get some new blood work and restart PT. I begin on Monday.

In the meantime, my antispasm drugs aren't really doing much and my sleep is really disturbed. I am reluctant to return to my pain mgt doc b/c his solutions all seem to revolve around increasing doses of things like morphine and oxycontin--neither of which I tolerate very well. I'm also awaiting some basic blood work ordered by the neuro to see if there's a metabolic issue causing my memory problems.

nina

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Nina, thank-you for sharing. I just wanted you to know that I will be thinking about you during this time of waiting and changes.

Sheridan

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Good luck with the PT. Sorry to hear that you have been in such pain. I don't know if you've tried the fentanyl patch, but it might be more tolerable than oxycodone or morphine. It's less constipating.

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Thanks for the empathy... it's been a strange few months trying to reorient my "world view" of my own health. It's also taken me quite a bit of time to read up so I better understand what's happening to my body.

LT, that patch sounds better than what i've been going through--without the pain meds, my guts are happy and I can kind of sleep--with the pain meds, I'm relieved, but exhausted. There seems to be no happy middle ground.

Nina

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Nina, I was just wondering what led you to seek re-evaluation from the geneticists? And what in your medical history suggested that you may have this genetic disorder?

Regarding memory and concentration issues, one possibility that comes to mind - that may or may not play into this - is the fact that you recently had 2 major surgeries, which were probably done under general anesthesia. Sometimes general anesthesia can result in temporary memory difficulties, which usually resolve with time.

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Hi DrG.

The original EDS dx was made based on my Beighton scale score by a local EP cardiologist after my healing problems with my first spinal graft and subsequent repeated surgery. Early this year, I went for a opthalmology screening for lasik surgery and was told that I have thin corneas and am not a canidate for that type of procedure--I was told then that this could be an EDS issue and i need to be followed regularly for corneal health. I decided that I wanted to be seen by a genetics doc to confirm/deny the dx of EDS and also get counselling on what types of issues i should be prepared for, so i made the appointment.

I was seen late May, i think? at Univ of Penn. While the team felt I did have the proper score for the Beighton scale, there were familial factors that made them think FGFR3/hypochondroplasia instead.

Firstly, i am under 5 feet tall, as are my 2 sisters and mother. My mother is small in comparison to all her relatives--so, it is believed that she was a spontaneous mutation of FGFR3. I have early arthritic changes, bone healing problems, bone scarring/spondylosis/stenosis. My sisters, both very fair, have had keloids, which are rare in fair skinned folks. When i looked up hypochondroplasia, I really thought the doctors must be wrong b/c it talked a lot about a disproportionately large head compared to the body--and short limbs. However, I'm perfectly proportioned, as are my siblings. My mom and I both have significant scoliosis (overlap with EDS III), and we both have early onset of arthritic changes, but neither of us test positive for any specific rheumetologic disorder (my mother's aunt, my great aunt, supposedly died from scleroderma--another collagen defect).

After my appointment i was pretty much in shock...and a bit of denial and anger too. After i calmed down a bit, i wrote and asked the genetics team about the differential diagnosis and exactly how they decided hypochondroplasia instead of EDSIII, and here's a quote from an email.

"For a diagnosis of EDS, there must be some skin involvement, usually elasticity. There is a joint hypermobility diagnosis that was developed under separate criteria for individuals who do not have EDS but clearly have some joint involvement. The Beighton score was not designed to be used as scoring for individuals as a diagnostic tool. It was used more for epidemiology studies when comparing controls (persons without hypermobility) versus affected persons. In individuals with hypermobility, there are often more joints involved than those "evaluated" by the Beighton score. Although we didn't give a specific score, Dr. XYZ looked at many of your joints, including those scored by Beighton. He felt that some of your joints exhibit hypermobility; however, you also have a strong family history of short stature. We would like to pursue further evaluation for hypochodroplasia to see if the diagnosis is confirmed for you. The limbs in hypochondroplasia are not always disproportionate."

The only skin involvement i have is minor stretch marks and easy bruising. I'm not sure if that clarifies or muddies things :blink: BTW, I'm more hypermobile than I think they realize--my spine is very mobile, so much that my former chiropractor didn't want to touch me after a while b/c he kept saying he didn't like how much my vertebra would move around--that was 20 years ago--and I find it ironic that he was the first to key in to what no one else thought was a big deal. I believe that my spinal movement is part of why I'm in such crushing pain--and my body is attempting to stabilize itself by telling the muscles to lock down and hold things in place, combined with the arthritic problems with my spine. At 42, it's pretty debilitating.

The FGFR3 gene controls collagen and bone formation, including blood vessels, etc, so I can see how, if i am positive for the gene, it might provide a decent overall explanation for my lifetime of symptoms. We'll see.

Nina

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Wow, Nina. I'm learning a lot by reading this thread. Thanks for sharing what is going on and what you are learning about your diagnosis. I hope that your tests go well and that they give you accurate and helpful results. Keep us posted!

Rachel

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Thanks,

Interesting thread...My daughter has been dx'ed with EDS/JHS, she is extremely tall, 5'10", (looks like Marfans), my husband and I are shorter, I'm 5'5", he's 5'8". We, (my daughter & I) saw genetics a couple of weeks ago, the term, hypochondroplasia, did come up. My uncle belongs to the "Little People" society as he is under 4'5", he is this type of "little", regular torso, with short limbs; plus my sister is extremely small, about 4'9", she is appropriate in in limb size. I'm gonna have to research this tomorrow, but is this the same type of gene mutation?

Realizing everyone's body reacts differently to medication, my daughter absolutely cannot tolerate the fentanyl patch or the dissovle tablets, they make her into a "crazy person" literally. She does way better on Ultram and Morphine, .002.

Angie

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Angie,

What is interesting to me about the FGFR3 gene is that it causes a wide variety of issues--it's implicated in the short stature issues, people with craniofacial issues, it is known to cause bladder cancer, huntington's disease, osteogenesis imperfecta (brittle bone), achondroplasia (dwarfism), hypochondroplasia (dwarfism variant, which can occur with normal proportions), keloid formation (skin condition), as well as other skin and bone diseases and cancers.

Here's some basic, specific info on hypochondroplasia.

And this one is from the top expert on both EDS and Hypochondroplasia. I have a scheduled appointment with her in October, but I'm not sure if I'll keep it.

And this one has a comprehensive list of known disorders associated with FRGR3 mutations, including a disorder involving TALL STATURE.

Nina

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Nina, thank you for sharing this information. It's interesting to see how far we've come in genetic testing and diagnosis, yet how far behind we still are on treatment of many conditions that we are able to diagnose. I am glad you have top specialists working with you, and I hope you get a proper diagnosis soon.

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nina,

thanks a lot for letting us know. it must all be confusing for you. you have so much going on, wish you strength to deal with all this.

thinking of you,

corina :)

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The relationship between genotype and phenotype can be very confusing. I guess that the definitive diagnosis of EDS or whatever will have to be a genetic test.

For example, when I got my dog as a puppy from the local shelter, they said that he was probably a border collie mix. A few months later, an acquaintance who has done a lot of dog rescue, including sending dogs to a border collie rescue group, said, "Border collie mix? Mixed with what? Another border collie?" When I took my dog in for a sheepherding aptitude test, the guy with the sheep (and a dog ranked 8th in the country in sheepherding trials) guessed that my dog was a purebred border collie that had been turned in to the shelter for being too much of a border collie to be a good pet. My dog passed the herding test with flying colors. Several purebred border collies with papers flunked. In his agility class, my dog performs like a typical border collie, and he even socializes well with other border collies, who sometimes get into trouble because they stare impolitely at other dogs. So recently we sent in a sample of his buccal cells to be tested for a breed profile, to figure out what kinds of dogs were in his ancestry. The result came back as some German shepherd and maybe a little bit of Samoyed. No border collie listed. So, either the test is totally bogus (although it gave reasonable results for my friend's dog, which it said is a Shelty-Shih Tzu mix [a Shel-Tzu, I suppose]), or they didn't get a good starting sample of border collies for comparison, or it just doesn't matter. Phenotypically, he is a border collie. So I guess that if a German shepherd-Samoyed mix can pass so successfully as a border collie, especially if sheep are present, I suppose that FGFR3 mutation could pass for EDS, at least until someone tests for the gene.

It would be best to have the proper diagnosis of the gene, to alert you to other health risks and perhaps to enable other people in the family to take advantage of genetic counseling. Best of luck in finding it!

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Hi Nina, I am also fair skinned and formed large keloids at the incisions following surgery on both my shoulders due to CALCIFICATIONS throughout both my rotator cuffs that I have yet to get an explanation for how they formed. (the keloids are somewahat painful also) The bone in my fractured wrist (when I fell when I was dizzy) healed up ok but the many muscles involved in making one's wrist move were extremely stiff and I needed so much extra therapy that I was in a constant fight with the insurance company. I also had to have CALCIFICATIONS of cysts in my breast tissue aspirated to make sure they weren't cancerous. I have to do my water aerobics class on a regular basis or I stiffen up quickly. Does your insurance company cover the cost of the genetic testing? Is there a genetics clinic at U Of Penn? I have 2 daughters of childbearing age. Best, Martha

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yes, Penn has a medical genetics department, which is where I was seen. Their department worked with my insurance to get my test covered.

I have my pt consult tomorrow, but I'm not sure I can afford it b/c the pt is not in my insurance network.

Martha, are you under 5 feet tall? Nina

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I should also mention that right nextdoor, literally, to the U of P campus is Children's Hospital of Philadelphia (CHoP), which has it's own genetic's department. -Nina

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Hi Nina,

I was just wondering if you have started your physical therapy yet? I'm wondering what sort of PT they are going to try with you?

Flop

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I started last week and was pleased to learn that my PT used to work at a practice I went to a while ago-and he's now doing an extended fellowship in orthopedic manipulation. Very gentle--he uses a combination of heat, massage, trigger point release, and exercise, some with him holding me in a position and me providing resistance and then release, and others of the more standard type.

He's very concerned about 3 areas of extreme hypermobility in my spine, and more areas that are completely immobile. The plan right now is to stabilize the 3 areas of mobility first (2 l-, and 1 c-spine), then work on freeing up movement in areas in constant spasm. I have been very pleased so far, even if exhausted afterward.

Nina

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Sounds like he's done quite a bit of thinking about the type of treatment you need for your spine.

I went to see a physio privately recently as I had suddenly developed low back ache (in the area at the back of my pelvis). I wanted to get it checked out before starting to use my wheelchair. The physio was very thorough in her examination and was astonished by my amount of flexibility. She said she couldn't of ever imagined that someone able to put their palms flat on the floor with knees straight (like I can) could also have areas of such rigidity in their spine. It is like I bend too much in some places and other bits are held stiff by muscle spasm - bizzare!

Flop

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Flop, you just described me--hypermobile with a spine that is nearly frozen by muscle spasms in multiple areas.

Nina

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Hi Nina, I'd love to hear more about how he's stabilizing your spine-- which types of exercises and muscles. (My pelvis and lumbar spine are not good, and I'm always looking for new ideas. I've had multiple runs of pt, but am still sloppy and poppy--with feet that go numb when I sit too long and bulges from L3 on down,and seriously loose si and pubic joints.)

I get the impression that the transverse abdominis (deep abdominals), gluteus medius (side of butt), and multifidus (muscles stabilizing vertebrae) are the trendy muscles for these problems. I do my exercises and they probably help, or I'd be much worse, but I'm not winning any awards here for pt success stories of the month.

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Nina - it is odd that we both have the same type of unusual stiff and wobbly back. I've thought for a long while that I'm overly stretchy in some movements. Physios always advise me to stretch out my spine by pulling my knees up towards my abdomen - difficult when my knees will hit my shoulders without stretching my back muscles at all. This physio was suprised when I showed her, then I made her laugh by putting my foot over my head behind my neck!

Flop

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He wants me to be doing endurance work--both on the treadmill and the hand bike in both directions. Also, he wants me to continue with my trainer to build my overall strength and endurance.

Nearly all my muscle strengthening is done laying down, knees bent, so my back never is to leave contact with the floor/table.

Muscle group strength focus right now:

Abs:

tranverse abdominus and external obliques.

Neck:

pushing against my own fist, or against the floor/table (not sure of the names of the actual muscles) of the neck, done using isometric moves

Mid back:

trapezius, this is the only set done seated.

However, we're spending just as much time stretching the overly taught areas (Pecs, Lats, hip flexors, and range of motion for my neck). We'll be adding more later.

Also, when I do the ab work, it reminds me of pilates b/c to look at me, you'd think I wasn't doing anything--very controlled, small movement. With the lower ab work (transverse), he has me using my bp cuff under the small of my back to give me visual feedback on the readout--if the number moves from where I set it at 40, I'm not doing it right. With the ext obliques, I'm allowed to tilt my hips a bit and push downward and the cuff should rise to about 50 but not higher than 55 b/c then I'm recruiting muscles that are already over built and don't need the workout.

At the end of the visit he does some soft tissue work and rechecks my range of motion in all my key areas--neck, mid and low back. He had me be his last patient today so we could talk about the plan being to get me doing all the components fluently--but that his expectation was that this was not just a PT office visit commitment--it's a permanent lifelong commitment if I want to keep active for as long as possible.

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Thanks for the info, Nina. How does he have you stretch without destabilizing? For me, that's one of the trickiest things. My muscles are so knotted up, but stretching pops my joints. My pecs are sooooo tight, but when I do the standard stretch ( arms in doorway), my shoulders sublux B)

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