undiagnosed still looking for answers, please help?

Posted by samigrace08 @samigrace08, Dec 16, 2018

Hello everyone! I'm 18 years old and really need to get my medical conditions under control and figured out, so I was hoping some of you had some ideas.
I was born at full term, seemed to be healthy, and went home right away. Apparently I was not a great baby sleeping for 10 minutes at a time and would scream otherwise. At 3 months I had to be resuscitated and was on an apnea monitor for 4 months. at 2 years I was diagnosed with an auditory speech delay which eventually got me diagnosed with Autism spectrum disorder. At 3 I was diagnosed with juvenile oligoarticular arthritis only affecting the right and then eventually both knees. Since my last flare almost 8 years ago, I have had chronic pain in my joints. even ones not affected by any inflammation. My rheumatologist says that I am hypermobile but I did not score high enough on the beighton scale to be diagnosed with a hypermobility syndrome or Hypermobile ehlers danlos syndrome, because I am not hypermobile in my fingers which counts for 4 of the 9 points. I have extremely soft velvet like skin but no atrophic scarring and I tend to Subluxate my si joints and hips and shoulders. I was recently diagnosed with a bicuspid aortic valve which is a congenital heart defect. and I have multiple kidney stones. I get periodic episodes of severe joint pain and weakness where I need to use crutches to get around and walk. All of this is of course taking a toll on my mental health leaving me with depression and anxiety. and I have been tested for everything it seems like. I forgot to mention that my arthritis has moved to my eyes with uveitis and scleritis. Someone please help if you have any ideas. I can tell you that it is not lupus and not lyme disease as those have been ruled out multiple times. thanks

Hello @samigrace08,
I see that you have posted your symptoms in multiple discussions and have not found any answers or suggestions. None of us here on Connect are able to give medical advice. We can share our health conditions and what works as a treatment for us if they are similar to your symptoms. I don't think you have mentioned in any of the discussions you started if you have discussed your symptoms or any possible treatments to help you with your doctors.

Have you thought about getting a second opinion or seeing a specialist to help you?

I’m not sure if it is an option for you but if it is, the Mayo Clinic is very good at diagnosing health issues that are difficult to diagnose. If you would like to seek help from Mayo Clinic, you can contact one of their appointment offices. The contact information for Minnesota, Arizona and Florida can be found here:

Mayo Clinic Contact Information: https://www.mayoclinic.org/appointments

John

REPLY
@johnbishop

Hello @samigrace08,
I see that you have posted your symptoms in multiple discussions and have not found any answers or suggestions. None of us here on Connect are able to give medical advice. We can share our health conditions and what works as a treatment for us if they are similar to your symptoms. I don't think you have mentioned in any of the discussions you started if you have discussed your symptoms or any possible treatments to help you with your doctors.

Have you thought about getting a second opinion or seeing a specialist to help you?

I’m not sure if it is an option for you but if it is, the Mayo Clinic is very good at diagnosing health issues that are difficult to diagnose. If you would like to seek help from Mayo Clinic, you can contact one of their appointment offices. The contact information for Minnesota, Arizona and Florida can be found here:

Mayo Clinic Contact Information: https://www.mayoclinic.org/appointments

John

Jump to this post

I have multiple specialists and doctors for all of these symptoms. I am just looking for guidance on where to go next. thanks.

REPLY

Boy, that’s a lot to deal with ….. I would trust your rheumatologist unless, as someone else noted above you feel it would be good to get a second opinion. Sometimes it makes a world of difference to get a different perspective, although you may be tired of visiting doctors. I know that with pain when it is so constant, sometimes it’s easy to get discouraged. I can only address the joint pain & what has helped me, and that is Celebrex. However I know that there new research that indicated some concern about people taking it who have a heart condition. it sounds like you might fall in that category. Have you been to see any doctors at Mayo? I think they are amazing and can give you answers relatively quickly compared to going from one doctor to the next and waiting for results from each.

REPLY
@samigrace08

I have multiple specialists and doctors for all of these symptoms. I am just looking for guidance on where to go next. thanks.

Jump to this post

@samigrace08 Since your seeing so many different Dr,s just make sure your on Dr is aware of all the meds there could be some interactions there .Wishing you luck

REPLY

@samigrace08 You may want to explore if your diet is contributing to inflammation and flare ups. I have multiple food allergies and gluten issues. I know for a lot of people with arthritis, the nightshade family causes inflammation (peppers, tomatoes, eggplant). Sugar and processed carbs also cause inflammation. I will have joint pain if I eat things that my body reacts to. You may want to consult a nutritionist or a specialist about food allergies since the wrong foods can contribute to disease. You can also do an elimination diet to test yourself and find out if foods are bothering you.

REPLY
@jenniferhunter

@samigrace08 You may want to explore if your diet is contributing to inflammation and flare ups. I have multiple food allergies and gluten issues. I know for a lot of people with arthritis, the nightshade family causes inflammation (peppers, tomatoes, eggplant). Sugar and processed carbs also cause inflammation. I will have joint pain if I eat things that my body reacts to. You may want to consult a nutritionist or a specialist about food allergies since the wrong foods can contribute to disease. You can also do an elimination diet to test yourself and find out if foods are bothering you.

Jump to this post

@samigrace08 Its a good idea to keep a food journal

REPLY
@lioness

@samigrace08 Its a good idea to keep a food journal

Jump to this post

Bah Humbug! LOL Actually a diary of everything we do helps in the long run.

REPLY

Hi @samigrace08 I also was diagnosed with Bicuspid aortic valve and have had arthritis in a lot of my joints and bulging discs. I did find out my hip is mildly deformed due to developmental deformity. I am now 34 and still have days where my knees are so bad I can’t bend them (one at a time) It is strange you mention Hypermobility because I do as well as hypereflexes. I have never been checked for Ehlers but seen Bicuspid aortic valve can be linked to connective tissue disorders? My main problem is muscles being weak from having to pick up the slack from joints. I now take it easy as much as possible but also take gabapenton and cyclobezaprine.

REPLY
@manda304

Hi @samigrace08 I also was diagnosed with Bicuspid aortic valve and have had arthritis in a lot of my joints and bulging discs. I did find out my hip is mildly deformed due to developmental deformity. I am now 34 and still have days where my knees are so bad I can’t bend them (one at a time) It is strange you mention Hypermobility because I do as well as hypereflexes. I have never been checked for Ehlers but seen Bicuspid aortic valve can be linked to connective tissue disorders? My main problem is muscles being weak from having to pick up the slack from joints. I now take it easy as much as possible but also take gabapenton and cyclobezaprine.

Jump to this post

Hi @manda304, Welcome to Connect. Thank you for sharing. You mentioned your main problem is muscles being weak from having to pick up the slack from joints. I thought you may be interested in the following articles.

What causes muscle weakness?
https://www.medicalnewstoday.com/articles/325876.php

There does seem to be a link between Bicuspid Aortic Valve and connective tissue disorders according to the Marfan Foundation
https://www.marfan.org/bicuspid-aortic-valve

Has your doctor given you any suggestions for treatments?

REPLY
@johnbishop

Hi @manda304, Welcome to Connect. Thank you for sharing. You mentioned your main problem is muscles being weak from having to pick up the slack from joints. I thought you may be interested in the following articles.

What causes muscle weakness?
https://www.medicalnewstoday.com/articles/325876.php

There does seem to be a link between Bicuspid Aortic Valve and connective tissue disorders according to the Marfan Foundation
https://www.marfan.org/bicuspid-aortic-valve

Has your doctor given you any suggestions for treatments?

Jump to this post

@johnbishop I had physical therapy after both pregnancies and it didn’t help much. So far mayo has said fibromyalgia but I live out of town so it’s a lot to go back and forth for the classes etc. I do take muscle relaxers which help temporarily I do need to just get in shape but always drained (work full time and two small children) I also did have low vitamin d and got levels up after about a year of high doses. I also was diagnosed with hypersomnia/possibly narcolepsy (didn’t stop taking medicine for test so they couldn’t diagnose) my circulation is pretty poor too I’m very pale with bright veins and feet and hands go numb or turn purple quickly but they checked for cad and I don’t have plaques around heart. I do have non specific white matter lesions on frontal lobes (small vessel disease) which could be migraines too?? I will have to look at the link you sent. Just does seem like it is all related and really wanted to be able to just stop the degenerative of everything if I could

REPLY
@manda304

@johnbishop I had physical therapy after both pregnancies and it didn’t help much. So far mayo has said fibromyalgia but I live out of town so it’s a lot to go back and forth for the classes etc. I do take muscle relaxers which help temporarily I do need to just get in shape but always drained (work full time and two small children) I also did have low vitamin d and got levels up after about a year of high doses. I also was diagnosed with hypersomnia/possibly narcolepsy (didn’t stop taking medicine for test so they couldn’t diagnose) my circulation is pretty poor too I’m very pale with bright veins and feet and hands go numb or turn purple quickly but they checked for cad and I don’t have plaques around heart. I do have non specific white matter lesions on frontal lobes (small vessel disease) which could be migraines too?? I will have to look at the link you sent. Just does seem like it is all related and really wanted to be able to just stop the degenerative of everything if I could

Jump to this post

@manda304 — It sounds like you also have fibromyalgia. I'm sorry the Mayo Fibromyalgia classes are too far. I think you are doing great to learn as much as you can about your condition and what will help. Have you thought about finding some information online that would be helpful? I did see one on Medical News Today website that might be helpful for you.

Natural remedies for fibromyalgia
https://www.medicalnewstoday.com/articles/315393.php

REPLY

I have hypermobilty as ehlers danlos syndrome.You need to find another doctor. Eds also affects your eyes . When I was diagnosed.in 1997 by a specialist there were just a few categories , now about 11. I also have sjogrens, so sjogrens and eds can cause organ failure, separately. I feel your pain, as I have multiple diseases and syndromes. Hypermobility is the only one in the group that isn't tested for genetics. If possible find a new neurologist to be sure of the other diagnoses. A specialist in the ones you have.like autism. My grandson screamed every night for year. But not autism. He is the sweetest boy. Has cp. only in his legs. He just had both legs broken, to have his legs straightened , now learning to walk again, the right way. So just because you scream it doesn't mean autism..I have heard people say the same, screamers then sweet children.

REPLY
@samigrace08

I have multiple specialists and doctors for all of these symptoms. I am just looking for guidance on where to go next. thanks.

Jump to this post

I think you should get retested for EDS. Dr. Karl DeDios is an Geneticist and specializes in EDS, he’s at Dayton Children’s Hospital. He is excellent. He diagnosed me a few months ago and I am a 64 year old woman and still very flexible. I had over 50 symptoms and like you I have been all over including Mayo, Cleveland and John Hopkins.

REPLY

Did you get a full food allergy test done? Blood work is the best method for checking for food allergies. Also have your Calcium, Vitamin D and your PTH all checked out at the same time. It’s possible that you might of been born with food allergies and or Primary Hyperparathyroidism

REPLY

I had a Lot like you and was misdiagnosed at MAYO CLINIC. SO last week i was called and told I have hyprochromtesisis. Which at birth your born making took much IRON. YOU WILL LOOK LIKE YOUR ANAEMIA is rapid on your body. Women have a way to get rid through menstruation. But it is a very slow process. This can cause all kids of arthritist. You can not eat chocolate ,no caffeine ,no high iron. Foods ,no process meat,,low sodium. Diet. No salt. I went to hematology a,d they are checking my liver ,kidney ,pang and pancrease. Can cause liver damage, and diabetes.so far I have only a bit liver damage but it is reversal 6verable. I have BOOP. AND LUNG TRANSPLANT IS NEEDED MY LIFE IS MISERABLE HOOK TOO ARM UHH 7TH

REPLY
Please login or register to post a reply.