Discussions By Condition: Medical Stories

Mystery illness ... self diagnosis

Posted In: Medical Stories 6 Replies
  • Posted By: rtbSwollen
  • February 26, 2009
  • 09:06 PM

I'm a male in my late twenties and ever since my early teen years I have suffered with several different symptoms although I wasn't sure if they were related. It started when I was 15 when I was a freshman in high school, I woke up in the morning and ate cereal for breakfast (as I always did) and before lunch I had this weird feeling in my stomach area and by late afternoon it felt so bad that I got the sweats and eventually threw up and did that for nearly a day straight. This happened about 3 times a year.

Around a year or so after that my hand began to swell and got so big I couldn't move my fingers. I didn't think this was related. This has also happened around 2 or 3 times a year since the first time.

I had dental work done when I was 16 and my upper lipped swelled up so big that it started to bleed. The dentist said this was normal and to worry. This was the only time my lip swelled until I was 23/24.

So I had those things going on an around 16 or 17 I ended up in the emergency room with severe stomach pain, they gave me so stomach muscle relaxants and that didn't help but said I should see a GI.

At that time I had an endoscopy and they also did a test where I ate a radioactive egg and they watched it digest thinking I had a blockage (based on the symptoms of the throwing up and the pain which were actually at different areas). After no diagnosis I moved on and apart from the hand swelling (which also soon became foot swelling) and the throwing up I just lived with it.

I had another set of severe stomach pain and bloating at 23, I saw my general practitioner and they thought I had a bladder infection and put me on antibiotics. Antibiotics have always bothered my stomach especially when I'm not eating with them which because of the stomach pain I obviously wasn't eating. Either way this made the pain last longer. I ended up in the hospital and they did a CTscan. Saw "something" thought I might have diverticulitis or crohns. A week later a new GI Dr did an endoscopy and said I had some colitis.

He was the first Dr to think the swelling and the stomach pain were related and considered several auto-immune options. So much so that I I decided I was wasting my time and stop going to the Drs.

6 months after seeing the rheumatologist I had swelling in the lower buttocks that spread to the scrotum. This obviously freaked me out.

I did some of my own research and found only one disease that would cause scrotal swelling, foot and hand and lip swelling. Hereditary Angioedema.

Because I was discouraged I didn't pursue it anyway and eventually the scrotal swelling happened again and I went to the my GP and told him the GI wasn't helpful and presented my symptoms more clearly with what I had read in mind. He sent me to an immunologist (why I never saw one with all the swelling I had is beyond me). The immunologist is a young dr and obviously still remembers what they learned. She tested me for HAE and I was positive.

After spending over $100 a month for a colitis medication, and then $50 a month for an IBS medication along with several exploratory tests I was the one who figured out what I have.

Fortunately there are treatments but they're new and still very expensive but at least I have a diagnosis.

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6 Replies:

  • Thank you for sharing your story with us. I think, this will happen more and more often, that the patient will suggest a diagnosis for the doctor. You are lucky that your doctor took it well. Not many do… Good luck with everything! :)
    Felsen 510 Replies
    • February 27, 2009
    • 00:01 AM
    • 0
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  • Felsen,I actually didn't tell the Docs I had self diagnosed, instead I presented the symptoms in a text book manner (since this how they've learned the disease) and that in turn helped them diagnose... or at least think they did :D
    rtbSwollen 4 Replies
    • February 27, 2009
    • 01:00 AM
    • 0
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  • How clever of you! Maybe we should all use your tactics. ;) I am very curious of this condition, hereditary angioedema. Since you obviously have the latest update, would you mind telling us a little more about this condition? Is it known what causes it? What is the treatment and prognosis?
    Felsen 510 Replies
    • February 27, 2009
    • 06:47 PM
    • 0
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  • Felsen,Hereditary Angioedema (HAE) is a deficiency of the protein C1 inhibitor. My cells either contain a low amount of or none of the c1 inhibitor protein and this causes a buildup of kallikrien (sp? I think this is another protein) and eventually this will cause swelling. HAE begins to present itself around puberty (which was one factor that helped me identify the diagnosis). It is also auto-somal dominant which apparently means that my kids will/have get this gene from me or they get it from their mom, 50/50 each child. The swelling usually takes 24 hours to peak and then a total of 72 hours before it's completely gone. I may have said before that the swelling takes place in my hands, feet, lip, scrotum, larynx (sp) and stomach. It's definitely disturbing never knowing when I might have another episode or if it will be my throat that swells next, so I'm always living on edge. I recommend to anyone that is having stomach issues and has had any swelling at any other time to get tested for this. It goes undiagnosed often and can be deadly, especially if it is never diagnosed.
    rtbSwollen 4 Replies Flag this Response
  • Thanks rtbSwollen. This is very interesting and educative. You should be a teacher. :) Last question. How do you diagnose it?
    Felsen 510 Replies Flag this Response
  • My name is Tori and I also have HAE. The answer to your question is through a blood test. My symptoms were some what different though. I started experiencing symptoms when i was 11. Fist my symptoms were acting like idopathic anaphlaxis (hives, swelling over the body, and air way constriction, but they didn't know what the anaphlaxix was to (idopathic means unknown) As I got older my symptoms started to change. I was experiencing: extreme abdominal paid, headaches, blurred vison, lose of consciousness, a buring and tingeling sensation all over my skin, dizziness, vomitting, and airway constriction.The hives, and swelling all over my body seemed to go away and all these other symptoms occured, although my face still usually swelled around my jaw line and lips. My attacks r still the same they seem to hit my intestines, and larynx with the above symptoms. All or only a few of the symptoms can occur in a attack. I have been going through this science i was 11 and i only got a diagnosis 2 months ago and I' am now 23 years of age.
    Anonymous 42789 Replies
    • October 2, 2010
    • 04:56 AM
    • 0
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