I’m a 16 year-old female, and I have been having problems with my joints and at this point, I really feel like I need a second opinion.
I've horseback ridden for about 3 years and when you horseback ride, your weight should be in your heels for balance and correct posture. I'd never had any problems with this until maybe 9 months ago where I noticed that my performance was declining because I had a lot of pain in my ankles. It hurts all the way from my heel up the back of my calf and even with ibuprofen, all it does is decrease the pain a little bit, barely noticeable. Around the same time that that started, I had random sharp pains on the back of my hand, mostly after using my hands. However, the doctor when he examined my ankles, he said that my ankles were not inflamed and that my hands pains were from subluxing tendons, which he didn't seem to be too concerned with though he was very surprised. I, on the other hand, was a little nervous that my tendons sliding off of my knuckles was not as common as I had thought and decided to see an orthopedist, who took some x-rays. It's not a good feeling when your x-ray technician says that she's "never seen that before" when you show her your tendons. The ortho thought that I had “trigger” finger, but even with the medication, celebrex, I had even worse pains in my hands then before and my tendons didn’t stop subluxing. We finally convinced my GP to do an ANA test, which came back positive. We went to the rheumatologist that my mom goes to (she has Scleroderma) and he seemed to think it was rheumatoid arthritis, especially because it runs in my family and with more tests, I came back with a positive anti-RNP.
However, when I went to a pediatric rheumy, he seemed to think that it was all just hypermobility because there were no signs of inflammation or other problems. It seems like something that would make someone relieved but it was the opposite for me because it felt like they didn't believe the amount of pain I was in and discounted symptoms. I have a very high tolerance and the fact that these pains were interfering with my life made them significant. I work out on a regular basis and my routine has changed to compensate for the fact that I can't tolerate the pain from using the elliptical like I used to and even the bike has been getting harder on my knees, especially since one of them dislocates. My Achilles tendons also sublux when I walk and my ankle had too much range of motion so I needed special shoes with support to prevent my ankle from popping or falling while I walk. Even with these shoes, walking and going up stairs becomes straining lately. School is becoming a place of anxiety not just because I have a huge workload but also because so many times I can’t write for long or fast enough because of hand pains. I love to draw but it’s taking a longer time and popping my wrist back into place is always a given at some point. And concentrating has become harder and harder because of the distraction of pain in my joints and worrying about the pain. I’ve tried to do what my OT has told me to do to help the situation but it’s not helping as much as I wish it were. I find it difficult to believe that these pains are just hypermobility because no one else is having the amount of trouble I have and it is a common aliment, especially in kids and teenagers. It’s been so frustrating because it feels like no one really understands how I feel and that everything I’m going through is getting overlooked. The expectation is that I’m just supposed to keep going along like normal and but it’s difficult especially when I feel like I know something else is wrong. Which is how I ended up here.
Recently, I’ve found Ehlers-Danlos Syndrome and it sounds exactly like what I have but when I mentioned it to my rheumy, he still he thinks that I have is "benign hypermobility” because I don’t have enough problems. But I do have a lot of problems that I feel like he might be discounting and these differences make me think that it's more likely to be EDS, (hypermobility, type 3):
-My skin is not extremely stretchy but it is more elastic than normal people have. Also, I have had stretch marks along the inside of my thighs for years, even though I have never had any significant changes in height or weight. There are quite a few of them and they are very large. My skin is also very sensitive to dyes to the point where I’ve been completely been covered in hives if we change detergents.
-I have a ton of scars. I tend to be more accident prone, but I have a few that are from superficial wounds, like from rug burns and very minor cuts on my hands. I don't bruise particularly easily, though my hands have been bruising lately from overuse.
-I've been battling with my colon for years, with nothing to really explain why I have had so many issues with it, varying from blockages to constipation to just severe pains. We've tested for inflammatory bowel diseases and they all came back negative. Over the last few years, I have discovered through observation that I am gluten and corn intolerant but almost all foods cause me some pain and my intake is becoming more and more limited.
-Although my rheumy said my dexascan test came back normal, he said my x-rays did look at least slightly osteoporotic and I've broken 6 bones, 5 in the last 8 years.
-The suggestion that I just need to have more muscle sounds strange considering that I have stronger legs then my gym partner, who has been a dancer for 9 years, and I'm the one in an increasing amounts of pain.
-My OT seemed concerned with the fact that all of the pressure points she pressed, on the elbows, upper arms and my chest, were extremely tender and caused noticeable pain to the touch. I don't know how exactly that would tie into EDS but she didn't seem to think it was normal.
-My hands and feet tend to go “numb” and/or tingly often and my right hand even went numb for about an hour and a half once.
Ehlers-danlos seems to fit my symptoms better. It doesn’t explain why my ANA is elevated but it could just be that with my family history my levels are above normal without an autoimmune condition causing it. The problem with EDS is that it would be the complete opposite of my mother, who, with Scleroderma, has tightening in her skin opposed to stretching. Could it be possible that I have it without the history and genetic component, since these diseases do have to start somewhere?
And for my rheumatologist, should I be more persistent for him to consider this disease or is his diagnosis an accurate conclusion for these circumstances?
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