Self Diagnosing and Genetic Tests-

[Okrad]

I know there will be many who disagree with me here. I have been in agony since age 14 with my stomach. I have a diary and I have kept notes about this every since.

At 14 I could not eat ANYTHING, so I stopped. What followed was a DX of Anorexia with no regard to the physical. This obfuscated everyone for a good long time, even me.

I went through a hellish recovery because we had to eat normal foods which included the ones that made me so sick. When I got out, I tried to eat healthy, but had no clue, of course.

Over time, I did get Drs to do tests. MRI's, C'scopes, Sigmoid, etc....they mentioned Crohn's but said more tests! So I got tested via 23 and Me company and discovered I do indeed have many genetic variations which can lead to Crohn's.

Because I have the symptoms to a T, I need no further tests. So they do another test and say, "BINGO!" we found it! Or, on a good month, find nothing but say, "According to your genes and symptoms, yes, you have it"

So I have decided to not do anymore testing and start trying to heal. I have many genetic variations which make it hard for me to process meds and toxins (woke up during a very painful C'scope and remember it!) so I have to be careful about meds.

So I am here to learn more and find and give support. I look forward to the discussions.

 

[SarahBear]

I have a few questions for you, just to make sure I understand what's going on.

Can you list for us exactly what tests you have had done, and what the results of them were (as well as you know)?

How old are you now / how long have these symptoms been occuring?

Exactly what are your symptoms?

Have you been diagnosed? I'm a little confused. I see that you said, "So they do another test and say, "BINGO!" we found it!" So they did definitely find Crohn's at one time?

What are you planning to do to treat yourself?

 

[CrohnsChicago]

I know there will be many who disagree with me here. I have been in agony since age 14 with my stomach. I have a diary and I have kept notes about this every since.

At 14 I could not eat ANYTHING, so I stopped. What followed was a DX of Anorexia with no regard to the physical. This obfuscated everyone for a good long time, even me.

How long did you do this? How old are you now?

I went through a hellish recovery because we had to eat normal foods which included the ones that made me so sick. When I got out, I tried to eat healthy, but had no clue, of course.

What were the "diets" you tried in the past (besides the anorexia). You say when you "got out" were you in the hospital for your anorexia or for digestive symptoms?

Over time, I did get Drs to do tests. MRI's, C'scopes, Sigmoid, etc....they mentioned Crohn's but said more tests! So I got tested via 23 and Me company and discovered I do indeed have many genetic variations which can lead to Crohn's.

Because I have the symptoms to a T, I need no further tests. So they do another test and say, "BINGO!" we found it! Or, on a good month, find nothing but say, "According to your genes and symptoms, yes, you have it"

What additional tests have you had besides the ones above. Have you been tested for Celiacs or other disorders as well?

So I have decided to not do anymore testing and start trying to heal. I have many genetic variations which make it hard for me to process meds and toxins (woke up during a very painful C'scope and remember it!) so I have to be careful about meds.

I'm a bit confused. Are they treating you for Crohn's or something else or just trying to ease your symptoms? What treatment plan are they giving you to help you "heal"? What meds are you taking/about to take?

So I am here to learn more and find and give support. I look forward to the discussions.

This is a great place to learn about IBD and how it affects others and yourself. I hope you are able to find the knowledge and support that you are looking for here!

 

[UnXmas]

Hi, I was also diagnosed with anorexia when I actually had a physical problem that was causing me to lose weight. I was a teenage girl who was very underweight - my parents took me to the doctor, and the doctor went for the most common diagnosis for someone with those demographics and symptoms - anorexia. It was a reasonable diagnosis to reach I suppose, however since I kept telling them I had no body image issues, it was wrong of them to be so narrow minded about it.

As a naïve teenager, I didn't help matters, though I was doing the best I could at the time. It didn't help that my weight loss was not due to malabsorption, but due to the fear of food I developed when I made the logical observation that what I was eating was causing pain and diarrhoea. And when doctors didn't believe me when I stated I didn't feel hunger anymore, I stopped trying to tell them anything, because I was too embarrassed to admit to having diarrhoea to people who I knew would not believe me.

So I hope I can relate to some of what you've been through. Many people here have had to fight against wrongful diagnoses, so I don't think people here will disagree with you. As in the other replies above, I'd be interested to know how you are managing recovery and treatment as I don't know much at all about genetic tests. Correct me if I'm getting this wrong, but I think you're saying that there's no point having more tests because your symptoms and genetic tests are so suggestive of Crohn's, and so any more test are unnecessary? I certainly understand not wanting to go through tests - it gets so draining after a while, and you do start to wonder what the point is when they don't seem to be helping you. I hope you'll come back soon and post some more.

 

[Okrad]

Oh Un! I am so glad I am not the only one! You went through exactly what I did. I remember so clearly the Drs making fun of me and telling me i was killing my parents. I was in so much pain and all they saw was what they wanted to believe.

Thank you guys for responding and listening. I hope I am still welcome even though I am not going back to the Drs (just a few I trust) because pain for pain, we are in this together! :ghug:

 

[Traumanurse]

Ok rad: I totally understand what you're saying, but if I might just add a few personal experiences.....

I was basically bed-ridden for a year with severe unrelenting Crohns in 2000 and 2001. It was a HORRIBLE time for me. Had TPN, and no food for that year, but was on 27 different IV drugs a day.

Long story short, I had a friend that was a surgeon. Basically he siad "That's enough." Lets start over. So.... I had 18 inches of colon removed and took myself off all medications and did NOT see another doctor for around 11 years. I listened to my own body. Did very well during that time with just 2-3 small flares a year and worked full time.

Now however, Ive had a bad year so had to finally go to the hospital with a bowel obstruction and will start on Humira next week.

So, I guess what I would say is yes, listen to your own body, but when you need to, go see a good GI for help. Make him listen to you, and always balance what you know about yourself with what they are telling you and come to a consensus with the Doc.

I really believe that most Docs have the patient's best interest at heart. You go to them and they want to "fix" it so they prescribe something, the next time the same thing, and the next time. It's a vicious circle. Sometimes you just have to "Start Over".

BUT, don't give up, find your happy medium. It's there. Sorry for droning on, I just related too well for what you are saying.

 

[Okrad]

Oh dear, Nurse. That is terrible and I am glad you had such a good friend! Are you doing better now? Do you still have food restrictions?

Oh yes, I have been worried about obtructions. I do have Drs I trust now but I try to use the medical system as little as possible because I react to so much.

I am worried because sometimes when I have the pain, I have it from the gut all way to esophagus and when I flare it is like I have eaten fire for the upper and like someone pumped my intestines with air, sewage, razor blades, and lava for the lower!!

I have found some seeds I can eat to get it moving, but had about two episode with "safe foods" which totally blocked it.

I could eat flax before but it just clogged me for like a week. It was awful. Then regular oatmeal---total clog. Organic is OK. I can eat hemp seeds, too and chia sometimes. But carefully. Nuts not so much.

But I was watching to make sure and it was just about when I was about to pick up the phone when it finally passed.

 

[Traumanurse]

What I had to do was add things to my diet one at a time to find my "trigger" foods. I've read a lot about that right here on the forum. It also amazes me how different we all are for foods. When I feel things starting to "heat up" in the gut, it's helped me to go with potatoes for the day. Now that's just me. I can't do milk products at all except a little cheese. Some on here use milk products to soothe. Absolutely nothing with seeds or nuts for me. We're all so different. I don't battle much with constipation like you thank goodness, quite the opposite, but by increasing the liquids I CAN have (which isn't many, haven't been able drink water for 11 years) helps when it does happen.

Long story short, you can do this, and it takes time just keep at it!

 

[SarahBear]

Hmmm. A couple of things...

First off, it sounds as if you haven't had a capsule endoscopy (I apologize if I misread and you have). If you chose to try another test, this would be the logical next step. You haven't been able to get a clear picture of your small intestine, so a pill cam would take care of that.

Second, what are your symptoms? I see that a doctor told you IBS. I'd also like to mention that IBS can very well be just as painful and disruptive as IBD, it just has less potential risks, so people tend to underestimate it. Here is an article, Normal IBS Pain Location that states, "Pain can range from mild to unbearable and be constant or intermittent."

If you do have IBD, it's important to have testing done regularly to ensure that no irreversible damage is being done to your body. Generally you wouldn't need to run through all of the tests - just a colonoscopy if it's active in your large intestine, a pill cam if it's non-stricturing and active in your small intestine, or an endoscopy if it's active higher up. If testing is hard for you, they may be able to monitor things decently through blood tests and do scopes as rarely as possible. Some sort of a compromised schedule could be made up for you.

Like traumanurse said, surgery is sometimes a possibility when medications aren't an option or don't work.

I see that you said, "So I still live in terrible gut pain and I know it looks like I am falling apart, but I am not!" This is a little bit contradictory. Like I said before, pain could be an indication of damage being done to your body. You shouldn't have to live in pain. Even if you cannot take most of any medications, a doctor may be able to help you through surgery, suggesting lifestyle changes, or other means.

Also I'm still a little confused on one point. In my last post I asked,

"Have you been diagnosed? I'm a little confused. I see that you said, "So they do another test and say, "BINGO!" we found it!" So they did definitely find Crohn's at one time?"

I think you missed that when responding. Did they find Crohn's at any time?

If you do chose to remain untreated, we'll respect your decision but I feel that I should mention that we don't advocate that to anyone here because of the risks.

I hope you feel better soon!

 

[Okrad]

Sarah-

I know you cannot advocate it, but that is why I came to the UnDx club because I am done.

If it makes people uncomfortable, I do not have to stick around but I wish everyone health and healing. We will all find it one way or another and we are all on different paths. :smile:

 

[SarahBear]

Sarah- There is no way I am doing pill cams and CScopes and endos etc. As I said there are risks to these procedures that I am not willing to take and further, I react to many of the meds. If you have not familiarized yourself with CYP enzymes, please do so. Also, gadolinium long term effects---if you research Gadolinium alone, you can see that many of us are finished trusting that things are "safe". They may not be safe at all.

For almost everyone, these procedures are more safe than going undiagnosed and untreated. I understand that some people have other complications that make them more risky, but almost always there are more risks associated with untreated IBD.

You sound very aggressive in feeling out my situation, like you are trying to determine if I have done enough or if I "really" have a dx or if I really need to be here. Why would anyone be here if they did not need to be?

That is why I gravitated to the undiagnosed club and where I will remain unless I change my mind and go for further care which I reserve the right to do if I change my mind.

I am sure you are not infringing on purpose and hope this does not escalate because we are all in a world of hurt. However, I came to the UnDx support for a reason.

I'm simply trying to understand your situation, offer advice and suggest possible answers for you. This is the same way I respond to almost all posts, as the more information we have when responding, the better we can respond. I simply found it upsetting that you admit you're still in pain and have resigned yourself to this. I'll gladly stop responding since my questions seem to be a bother to you.

 

[Okrad]

No, you are helping others, I will be the one to stop. I did not mean to stress you or myself out. It is just not a good fit for me to be here, but that is OK. There are many other places for people who feel the way I do. I wish you and everyone here healing and peace. .:smile:

 

[CrohnsChicago]

You sound very aggressive in feeling out my situation, like you are trying to determine if I have done enough or if I "really" have a dx or if I really need to be here. Why would anyone be here if they did not need to be?

That is why I gravitated to the undiagnosed club and where I will remain unless I change my mind and go for further care which I reserve the right to do if I change my mind.

I am sure you are not infringing on purpose and hope this does not escalate because we are all in a world of hurt. However, I came to the UnDx support for a reason.

Okrad, I see you are pretty new to the forum. As Moderators, folks like myself and SarahBear often set out to ask appropriate questions of members as they post. Please don't take offense in the future when this happens. We do this to make sure everyone on the site understands your situation and to avoid misinterpretation and offer you the best and most relevant information and support possible.

Also, understand that this is a very welcoming community and while these forums and sub-forums such as the "Undiagnosed Club" may be specific to certain types of conditions, EVERYONE is welcome to provide input and support. After all, you never know, you may find some key and helpful info from the last person you suspect to provide it. And remember, at some point many of us here were in your Undiagnosed shoes as well, trying to find answers just like you.

No doubt you have been through a lot, and I hope you find answers soon. In the meantime we are ALL here to support you along the way however we can

 

[UnXmas]

Okrad, I hope you do decide to keep posting.

I think how people feel about avoiding doctors has a lot to do with the way their search for a diagnosis has gone.

Once an incorrect diagnosis is on your file - anorexia, IBS, etc., - in my experience, it can be very difficult to find doctors who don't rely on the wrong diagnosis when they assess you. There's a lot of stigma attached to anorexia, and also to IBS as it is often regarded as the result of someone's inability to manage stress properly, and implies that the symptoms should be easy to live with.

Some people spend maybe a few months being told they have IBS and then get tests done and are found to have Crohn's. It's very different for someone who is told they have IBS or anorexia or any other mental illness and as a result is either not allowed to have tests or who's tests come back negative for years.

Sometimes appointments and tests can cause so much stress that it's better for our health to avoid them - this certainly the case for me at times, even with a diagnosis. It's so draining to be dismissed by doctors time after time.

So I can understand why you'd feel you're better off managing your illness on your own. Personally, I think it's reasonable to give up on trying to get doctors to agree on a diagnosis if it's causing you more problems than its worth. Yes, problems can arise from Crohn's being left untreated, but if you're not even sure you have Crohn's in the first place, or if doctors aren't prepared to treat you for it anyway, then you're just as much at risk for complications arising than if you stay away from doctors for a while. You'd know if your symptoms suddenly changed and you needed medical attention.

 

[UnXmas]

And something else which might help you, should you decide to go for further tests: I see a lot of doctors, because I have multiple illnesses. After I'd been found to have physical things wrong with me, my GP was willing to remove the anorexia diagnosis from my file. This meant that when I was referred to any new doctor from then on, they would no longer see "anorexia" listed as a current condition.

I'm not sure if it's due to a general social stigma attached to mental illness, or if many doctors see eating disorders as something self-induced and therefore a waste of medical resources, but there were so many doctors who treated me negatively when that diagnosis was still on my file, even those I saw for issues unrelated to my weight and digestive problems. I don't want to generalise this too much -there are some good doctors who treated me well regardless of the anorexia diagnosis, but I have noticed I get much less negativity from doctors now anorexia is no longer mentioned on my current file.

If you can find one doctor who believes you and is willing, it may help you if you can get your medical records amended.

 

[Traumanurse]

Great advice from these guys Okrad. PLEASE keep posting. Want to know how youre doing now.

 

[xSophiexx]

Im confused did something get deleted here?
I didn't even realise you could get testing for genetic things sounds interesting what country are you from?
btw you should post again .. as mentioned above the moderators were not being rude they were trying to get more info from you so the right advice / help / support can be given. i was confused by your first post as i am unfamiliar with these tests so would have asked the same to understand not to judge

 

[DougUte]

Okrad, please stick around. I totally understand the desire to avoid doctors. I was diagnosed with IBS for years before Crohns was d discovered. I hope you are doing better.