Discussions By Condition: I cannot get a diagnosis.

I don't know what's wrong with me!

Posted In: I cannot get a diagnosis. 12 Replies
  • Posted By: brittsweets
  • December 19, 2008
  • 10:11 PM

I am a 23 year old female. I started my period when I was 13 years old, but it has been irregular since I first got it. The only time I have a regular period is when I'm on birth control. I will sometimes go months at a time without one (I just went from early June to mid November without a period, I had both blood and urine pregnancy tests done and both were negative). I have taken pregnancy tests and have ruled that out for sure. I also gained about 50 pounds in a year (during that year my fiance and I were extremely poor so I wasn't eating very much and for half of that year--when I put on the majority of the weight--we didn't have a car so we were having to walk to work and anywhere we had to go). I also have developed these awful, deep purple stretchmarks around my belly button, some on my inner thighs, near my breasts and on the inner part of my arm near my armpit. My stomach is now distended and that's pretty much the only place I've really put on weight. My legs and my arms are still about the same size, maybe slightly bigger.

I had an outbreak of vasculitis when I was about 2 months from my 21st birthday. They thought it might have been an allergic reaction to amoxicillin, but were never sure so they told me to list it as an allergy just in case. When I was diagnosed with the vasculitis they told me I have an overactive immune system. I also have a lot of allergies (seasonal and animal mostly). I still get small outbreaks of vasculitis. I noticed they usually occured when I drank alcohol so I stopped drinking for the most part. I would get the vasculitis spots (they looked more like the Henoch-Schonlein purpura type of vasculitis) randomly as well. For example, I had hit myself with a plastic cart in the ankle at work and instead of getting a normal bruise it looked exactly like a vasculitis spot. I went to a doctor about it and she just happened to check my thyroid and told me it was enlarged.

My mom is an RN and also noticed that I have developed a "buffalo hump." I used to have excellent posture, but since the weight gain my posture has gone downhill. She suspects that I might have Cushing's Syndrome.

I have a rare kidney disease known as IgM Nephropathy. Most doctors and medical professionals have never heard of it before. Supposedly it's benign but there really isn't enough information or research to know exactly what the effects and symptoms are. I was diagnosed when I was 10 years old with a needle kidney biopsy.

I've also had bloodwork done recently, as well as an ultrasound. They mentioned something about me having a "fatty" liver, but otherwise the ultrasound was normal. They did a liver function test, a kidney function test a complete blood count and a thyroid function test. My kidney and thyroid function tests came out fine (my thyroid test was more on the high side of normal). My white cells and my red cells were at the high end of normal (almost too high, but still in the "normal" range) and my lipase was low. I had elevated levels of ALT and AST in my liver function test (somewhat well above the high end of the normal range). Sometimes I have high blood pressure, but usually I have normal blood pressure.

I also have abdominal pain right below my sternum (when pressed on) as well as where my kidneys are in my back and stomach (mainly when touched or pressed on). Sometimes my stomach will be really bloated (not always after eating) and I'm always tired. I also tend to bruise pretty easily. I know this is a lot to take in but I'm sick of being looked at as some young stupid kid that drinks too much or whatever (I rarely drink anymore at all) or is just imagining it. Any suggestions from anyone on what might be wrong or what kind of testing I should go through? I don't know if it's one thing causing all these problems or numerous things. Please help! Sorry I wrote an essay, but I'm getting so frustrated. :(

Reply Flag this Discussion

12 Replies:

  • research PCOS...polycystic ovarian syndromGood LuckPamela
    pamelasmc 82 Replies
    • December 21, 2008
    • 01:06 AM
    • 0
    Flag this Response
  • Pamela beat me to it,but was the sonogram of your pelvis?If so,it should have shown polycystic ovaries if that's what you have.:)
    richard wayne2b 1232 Replies
    • December 21, 2008
    • 02:21 PM
    • 0
    Flag this Response
  • Also,has Cushing's been ruled out?:)
    richard wayne2b 1232 Replies
    • December 21, 2008
    • 02:23 PM
    • 0
    Flag this Response
  • I am a 23 year old female. I started my period when I was 13 years old, but it has been irregular since I first got it. The only time I have a regular period is when I'm on birth control. I will sometimes go months at a time without one (I just went from early June to mid November without a period, I had both blood and urine pregnancy tests done and both were negative). I have taken pregnancy tests and have ruled that out for sure. I also gained about 50 pounds in a year deep purple stretchmarks around my belly button, some on my inner thighs, near my breasts and on the inner part of my arm near my armpit. My stomach is now distended and that's pretty much the only place I've really put on weight. My legs and my arms are still about the same size, maybe slightly bigger. I went to a doctor about it and she just happened to check my thyroid and told me it was enlarged. She suspects that I might have Cushing's Syndrome. My kidney and thyroid function tests came out fine (my thyroid test was more on the high side of normal). I'm always tired. I also tend to bruise pretty easily. Please help! Sorry I wrote an essay, but I'm getting so frustrated. :(Welcome to the forum.Sounds like you may have several problems occurring at once. You need to see an endocrinologist for a proper diagnosis. That being said, it's difficult to get diagnosed with Cushing's Syndrome because there are many different presentations. It may take many years for doctors to agree you have it and treat it.You may also have a thyroid problem.When doctors say your tests are "normal" they may not be normal for you. Requests copies of all your blood and urine tests and keep a record of them. If your TSH, a thyroid test, is slightly elevated you need to be started on thyroid medication especially if you have other underlying issues.Here are some links about different medical conditions:Cushing's Syndrome:http://www.mayoclinic.com/health/cushings-syndrome/DS00470/DSECTION=symptomsThyroid Disease:http://www.freewebs.com/thyroidThere's also a link on the thyroid website to an excellent forum with very supportive people. I'd say, by far, it's the most supportive and informative website on the web. I've been on many and this is the only one I'd recommend. It's now a closed forum meaning you have to subscribe and be a member to read and write on it.Symptoms of Cushing's Syndrome with symptoms you mentioned in bold:Weight gain, particularly around your midsection and upper backFatigueMuscle weaknessRounding of your face (moon face)Facial flushingFatty pad or hump between your shoulders (buffalo hump)Pink or purple stretch marks (striae) on the skin of your abdomen, thighs, breasts and armsThin and fragile skin that bruises easilySlow healing of cuts, insect bites and infectionsDepression, anxiety and irritabilityLoss of emotional controlThicker or more visible body and facial hair (hirsutism)AcneIrregular or absent menstrual periods in femalesDecreased libidoErectile dysfunction in malesNew or worsened high blood pressureGlucose intolerance that may lead to diabetesHeadacheBone loss, leading to fractures over timeFeel free to write as much as you want.
    Anonymous 42789 Replies
    • December 21, 2008
    • 07:10 PM
    • 0
    Flag this Response
  • Wow! Thanks for all your responses and all the information. I am going to start trying to advocate for myself more since it seems doctors these days don't listen. :mad: The sonagram was more of my kidneys, stomach and liver. I don't really remember if they did a pelvic one (I was at the ER because of the stomach pain and they gave me some painkillers lol). I am not sure what doctor I should see (aside from a gynocologist). Thanks again for the help!
    brittsweets 4 Replies
    • December 22, 2008
    • 03:02 AM
    • 0
    Flag this Response
  • You're most welcome!But,you didn't tell me if Cushing's Disease has been ruled out.:)
    richard wayne2b 1232 Replies
    • December 23, 2008
    • 00:48 AM
    • 0
    Flag this Response
  • They haven't tested me for that. I'm not even sure exactly what kind of doctor I need to see to get tested for Cushing's. My mom really thinks it's Cushing's after she saw a picture of a woman with it in one of her nursing books. My cousin (my mom's sister's daughter) has a pituitary tumor, I'm not sure if that could be genetic or not, but I heard that can cause Cushing's. The first doctor I went to was going to have me get a CAT scan, but my insurance company denied it, and since she thought that I was "asymptomatic" she felt that she shouldn't pursue it. I went to the ER about a week later because of the pain and such and hoping that they would do more in depth testing and actually give a crap about me and not talk to me like I'm stupid or a hypochondriac. They recommend I see a GI doctor for an endoscopy. They also mentioned that the liver functions might be an early warning sign of gall bladder problems. I'm going to try to get in with a gyn first and hope that maybe they can recommend something from there. I have lost a lot of faith in doctors over the last few years (especially my old doctor believed I was overreacting to the vasculitis and told me that it was just bug bites and that I was a depressed girl... Okay...)
    brittsweets 4 Replies
    • December 23, 2008
    • 05:10 AM
    • 0
    Flag this Response
  • You should see an endocrinologist for the testing for Cushing's Disease.It'll involve aurine collection and some bloodwork.It is relevant that you had a relative with a pituitary tumor and Cushing's because there is a problem called Multiple Endocrine Adenomatosis that's hereditary.:)
    richard wayne2b 1232 Replies
    • December 23, 2008
    • 00:24 PM
    • 0
    Flag this Response
  • I misread your post.You said just a pituitary tumor,not Cushing's,but find out more about your cousin's illness because they might be related.:)
    richard wayne2b 1232 Replies
    • December 23, 2008
    • 00:28 PM
    • 0
    Flag this Response
  • The Multiple Endocrine Adenomatosis sounds familiar. I'll have to ask my mom again exactly what my cousin has. She has to be on medicine for it for the rest of her life. I can't remember if it was something they were able to remove surgically or not. I definitely want to get tested for Cushing's. I've also been told that I have an "overactive" immune system, so I don't know exactly what that means, they didn't really go into detail.
    brittsweets 4 Replies
    • December 23, 2008
    • 06:09 PM
    • 0
    Flag this Response
  • The ''overactive''immune business means they don't know what's wrong with you!:)
    richard wayne2b 1232 Replies
    • December 23, 2008
    • 09:54 PM
    • 0
    Flag this Response
  • Complications of Crohn’s Disease

    Recognize the risks associated with Crohn’s disease.

    8 Surprising Facts About Cholesterol

    Did you know that one in six US adults has high cholesterol?

  • I am also an RN who has suffered with endo related problems for nearly 20 years. I hate to be the bearer of bad news but from what you have said I would also go with Cushing;s. Did you know that you can also have tumor/s on your adrenals instead of your pituitary gland or both? It is a VERY VERY HARD disease to dx and treat and it is so very important that you go to a pituitary/adrenal expert who specializes in Cushings. Most endo only deal with regular stuff like diabetes etc and will tell you that Cushings is "too rare" for you to have it. I am not kidding either; that is how many are. There is only one disease that casues pinkish/purple stretch marks and the famous "hump" between your shoulders and that is Cushings. Go to www.goodhormonehealth.com or cush-help.com and educate yourself b/c it is very hard to catch a high cortisol. Once you have read and undertand better u will know what I'm talking about in catching a high. I would not doubt that your pain in your back in your adrenal/s with the tumor. Ur adrenals sit on the top of ur kidneys so it will feel like a kidney infection at times and sadly is misdx as that too many times. Take your mom with you and start off finding a great endo and get copies of all your labs, cat scan, MRI's etc. Don't bother w/ doc/nurses notes b/c they do no good. Also, don't mention Cushing's right off the bat on your first appt w/endo. Let him/her do the dx after they have exhausted the testing and be prepared for lots of testings. I see a brilliant endo in LA; Dr. T. Friedman, MD, Ph.D and travel to see him. This is after seeing at least 15 worthless and clueless docs who told me it was all in my head. Don't lost anymore time. It is so worth it to get the correct dx. If u have Cushings's it is destroying your organs over a period of time so you MUST ACT soon!! If LA is too far for you the cush site will give you names of cushings specialists all over the country. Cushings's kills over time so please at least rule it out. Don't waste ur time with an gyno who has no knowledge of cushings and likely will just say PCOS and put you on birth control. Remember, from what you have described, you could be a poster child for Cushings's. Also, take your mom to as many appts as poss with prepared questions and also I take a tape recorder to my appts and listen again later. It is a very hard disease to understand and I've been a an RN since 1981. Good Luck and let me know if I can help in any way. Susan
    Anonymous 42789 Replies
    • December 23, 2008
    • 11:02 PM
    • 0
    Flag this Response
Thanks! A moderator will review your post and it will be live within the next 24 hours.