Discussions By Condition: I cannot get a diagnosis.

my head has gotten smaller

Posted In: I cannot get a diagnosis. 33 Replies
  • Posted By: alexburton
  • July 2, 2008
  • 09:00 AM

Yes that statement is true. What has happened to my whole body is unexplainable.


It started with an injury I had several years ago. I was hit on the upper lip by a hockey puck. The speed of the puck caused some serious damage. One of the philtrum columns broke. Complicating things was the fact I had pot and speed in my system. That fact led me to avoid the hospital until the next morning. I was dumb, I know.

Nothing much was done at the hospital. Was told to wait for the swelling to go down.
It was obvious there was some structural change to my face above the lip below the nose. Days later I went back to the hospital only to have the doc tell me I was ok.(I went back several times over the next few weeks) I had a full neurological exam which was normal.

Over time I started to notice these odd changes in my appearance. It was as if my body did not know how to adapt to the injury. I would get spasms/twitches under the skin at the site of the injury and all over my body(mostly on the face) over the next couple years my face seemed to lose all its muscle and definition. I don’t know how to say this other than my face and body seemed to slowly be losing some kind of tissue.

I kept losing some tissue everywhere on my body- my arms, my face, my legs. My head has gotten smaller, my face smaller, my lower lip has lost a lot of tissue,my penis shrunk and lost tissue and I have lost the ability to feel an orgasm. Yes over time all these things have happened. These things that have happened to me should be impossible. Was it the drugs in my system at the time combined with the injury that started some chain reaction? I have no idea. Docs havn’t been any help either. I’ve been to many of them.

During this time I also started to experience hormonal changes.After going to a couple endrocrinologists I was diagnosed with hypopituatarism with growth hormone deficiency(I’m now on GH treatment) . The MRI of the pituitary didn’t show a pituitary tumor though. That diagnoses explained the swollen stomach and the muscle loss but not the the crazy stuff that was happening to me . A tumor wouldn’t cause some of the things that are happening to my body. In theory what is happening to me shouldn’t be happening and probably has never happened to anyone else before.

So I researched the pituitary gland and read that part of the pituitary gland is made up of epithelium tissue. In fact the part that secretes growth hormone is made of epithelium tissue. Epithelium tissue covers practically the whole body. Could the initial injury caused some damage to the epithelium tissue that has just gotten out of control? The pituitary problem is a big big clue as to what is affecting my whole body I know this much. I am sure there is something wrong with either mucous membrane,epithelium tissue, fascia, or connective tissue (or all of the above)

Now the problem is finding a Doctor that is going to help me.I’ve been to around 10 Docs and none have been any help. In fact none have even tried. Several of them said I should see a psychiatrist! One of my regrets through all this is that I didn’t stick with one doctor through all this so he could notice all the changes I’ve gone through. The only problem with that is when a doc tells you to see a psychiatrist it’s pretty much time to find another doc. Mind you I’ve never just walked into a doc’s office and said “hey doc my head is shrinking” I’ve explained the whole story in a rational way. The problem is what’s happening to me is impossible and it defies every law of medicine.

So any advice would help. What kind of doctor/specialist I should see? I need to get biopsy’s of all my tissues and most of all I need a doc to really aggressively go after this with me because I am really running out of time.

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33 Replies:

  • "Shrinking head" is called microcephaly. I wonder if something genetic is going on.
    aquila 1263 Replies Flag this Response
  • Also, try here: http://www.cmaj.ca/cgi/content/full/171/12/1433 http://cat.inist.fr/?aModele=afficheN&cpsidt=1481160 http://www.uptodate.com/patients/content/topic.do?topicKey=r_endo_m/6046
    aquila 1263 Replies Flag this Response
  • "Shrinking head" is called microcephaly. I wonder if something genetic is going on.no no...this is happening to my whole body. please read the whole post. there is no medical name for what is happening . it has never happened to anyone before.
    alexburton 48 Replies Flag this Response
  • Geneticists are experts at rare diseases. Yes, I read your posting thoroughly. If you look at the web sites I posted to you earlier you'll see what I mean. I think your problem might be in your genes.
    aquila 1263 Replies Flag this Response
  • Geneticists are experts at rare diseases. Yes, I read your posting thoroughly. If you look at the web sites I posted to you earlier you'll see what I mean. I think your problem might be in your genes.thanks for the responsewhy do you think it might be with my genes?
    alexburton 48 Replies Flag this Response
  • One of the three articles I sent to you shows that what you describe is congenital. Hypogonadism means that your sexual organs don't make the hormones you need to be healthy. It's associated with GH deficiency, and both things when they appear in a person together can be genetic. "Congenital" means "in your genes" in case the terms are confusing. The symptoms you describe can be congenital, meaning you're born with them. Sometimes you don't know you have a genetic problem until later in life. Also, you may be the first person in your family to have a genetic problem, so the fact that other people in your family are all fine doesn't mean it isn't a genetic problem. It's called a "de novo" (meaning new) mutation. You case is confusing because trauma can also cause your symtoms. The only way to know whether your problem is genetic or not is to see a geneticist & have some specialized tests along with a long interview where the geneticist goes over your family history with you. I hope this helps.
    aquila 1263 Replies Flag this Response
  • One of the three articles I sent to you shows that what you describe is congenital. Hypogonadism means that your sexual organs don't make the hormones you need to be healthy. It's associated with GH deficiency, and both things when they appear in a person together can be genetic. "Congenital" means "in your genes" in case the terms are confusing. The symptoms you describe can be congenital, meaning you're born with them. Sometimes you don't know you have a genetic problem until later in life. Also, you may be the first person in your family to have a genetic problem, so the fact that other people in your family are all fine doesn't mean it isn't a genetic problem. It's called a "de novo" (meaning new) mutation. You case is confusing because trauma can also cause your symtoms. The only way to know whether your problem is genetic or not is to see a geneticist & have some specialized tests along with a long interview where the geneticist goes over your family history with you. I hope this helps.ok...no it's not genetic. I don't even have hypogonadism. My testesterone levels are fine.
    alexburton 48 Replies Flag this Response
  • a few years back i took a nose dive off a bicycle (without a helmet) and landed on the left side of my forhead. i know this sounds crazy but ever since myforhed has gradually become shorter, narrower, asymetrical, and yes my head has become smaller. this was not immediately after the accident eather but over a couple of years. to make things worse i now have severe headaches, neckaches and my neck is deteriorating. i have consulted many doctors and came to the conclusion that they dont know what is wrong or dont care what is wrong. before the accident i was extremely healthy and now i am systematicly falling apart. so i decided to do some research on my own. what i found is that the bones in the human head keep growing untill about the age of 15 (a year after my accident) and then they partly fuse togather but never actually completely fuse togather. what i believe happened was that i had damaged the growth plate on the left side of my forhead and it caused my head to contort and appear smaller as it continued to grow. it is as plain as day to me. unfortunately every doctor thinks im am totally nuts or could care less.
    Anonymous 42789 Replies
    • February 15, 2009
    • 02:41 AM
    • 0
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  • You're right - no mainstream doctor is going to help you. And most alternative doctors are quacks. (no offense to the good ones). I've shelled out thousands looking for a good doctor. How I finally found one: I signed up for support groups on yahoo for hypothyroidism and adrenal insufficiency. I found people who really know alot about hormones. Someone recommended a doctor out of state and this guy is fantastic.So you're dealing with bone loss and tissue loss. I suspect both are not genetic but rather, due to hormonal imbalances. Too much cortisol = bone loss. Too little growth hormone = loss of muscle mass. There are LOTS of hormones (probably some that have yet to be discovered) and they all affect how the continuously regenerates and body repairs itself. Your hypothalamus and pituitary are the control center for EVERYTHING. You got whacked in the head = screwed up control center. What you need is a HORMONE doctor, NOT an endocrinologist. Trust me - been down that road. Mainstream endos are not hormone specialists - they're diabetes doctors. They've forgotten everything they've learned in school. Start googling in nearby states for a hormone doctor. Make sure you're dealing with a licensed MD. Google the name and make sure he/she isn't a quack who's going to rip you off for a grand.You need comprehensive hormone supplementation. And you need an exceptional doctor to do it. Good luck to you.Amanda in Maryland
    Anonymous 42789 Replies Flag this Response
  • How old were you when hit by the hockey puck,and were you totally normal at that time?
    richard wayne2b 1232 Replies Flag this Response
  • I'm going to ''page'' Dr. Cottle for you.If anyone can figure this out,it's him!
    richard wayne2b 1232 Replies Flag this Response
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  • Okay, while I believe that some type of problem may possibly exist, there may be some cause-and-effect rationale that is somewhat clouding the issue. From the description of the injury and subsequent imaging studies, it sounds as though the damage from the hockey puck was limited to soft-tissue injury. Realize that while we do see muscle and tissue atrophy subsequent to certain trauma wherein nerve damage occurs, it is evidenced beyond the portion of the severed nerve. In this instance, the intraorbital nerve, as an extension of the maxillary nerve, would be the terminal end. While this may explain some of the twitching and sensory disturbances post injury, any retrograde damage along the maxillary or trigeminal branch would not be physiologically probable. You also speak of subsequent featural changes occuring over several years post-injury and I would opine here that it's unlikely the two events are directly related. If the changes are indeed dramatic enough, then a condition known as Parry Romberg Syndrome could be responsible for the distortion in features. The typical onset originates at the upper lip in many cases and spreads outward as damage progresses and gives the appearance that the face and head are shrinking in size by some standards. It is a rare condition and I would suspect this is not the case unless direct evidence is present. Also mentioned is the reduction in penile size and I would submit here that testicular atrophy would be the more prominent feature wherein any suggestion of endocrine involvement is concerned and would not consider it likely to be a result of the imact injury at all. Realize that penile atrophy is most often encountered in older persons wherein erectile dysfunction is the chief complaint. It should be mentioned also that chronic anabolic steroid use can indeed produce unwanted changes in the sexual organs as well as featural changes if dose-related use is substantial enough. Still, lab studies might be warranted here to examine testosterone levels, which can also produce the genital changes and even some featural aspects related to muscle tone and strength. A referral to an endocrinologist would be the most appropriate next step here in my opinion. Again, Parry Romberg would be an extremely rare possibility. Incidentally, chronic methamphetamine use can produce some rather unwanted long-term neurological effects that are irreversible in nature. Best regards, J Cottle, MD
    JCottleMD 580 Replies Flag this Response
  • Okay, while I believe that some type of problem may possibly exist, there may be some cause-and-effect rationale that is somewhat clouding the issue. From the description of the injury and subsequent imaging studies, it sounds as though the damage from the hockey puck was limited to soft-tissue injury. Realize that while we do see muscle and tissue atrophy subsequent to certain trauma wherein nerve damage occurs, it is evidenced beyond the portion of the severed nerve. In this instance, the intraorbital nerve, as an extension of the maxillary nerve, would be the terminal end. While this may explain some of the twitching and sensory disturbances post injury, any retrograde damage along the maxillary or trigeminal branch would not be physiologically probable. You also speak of subsequent featural changes occuring over several years post-injury and I would opine here that it's unlikely the two events are directly related. If the changes are indeed dramatic enough, then a condition known as Parry Romberg Syndrome could be responsible for the distortion in features. The typical onset originates at the upper lip in many cases and spreads outward as damage progresses and gives the appearance that the face and head are shrinking in size by some standards. It is a rare condition and I would suspect this is not the case unless direct evidence is present. Also mentioned is the reduction in penile size and I would submit here that testicular atrophy would be the more prominent feature wherein any suggestion of endocrine involvement is concerned and would not consider it likely to be a result of the imact injury at all. Realize that penile atrophy is most often encountered in older persons wherein erectile dysfunction is the chief complaint. It should be mentioned also that chronic anabolic steroid use can indeed produce unwanted changes in the sexual organs as well as featural changes if dose-related use is substantial enough. Still, lab studies might be warranted here to examine testosterone levels, which can also produce the genital changes and even some featural aspects related to muscle tone and strength. A referral to an endocrinologist would be the most appropriate next step here in my opinion. Again, Parry Romberg would be an extremely rare possibility. Incidentally, chronic methamphetamine use can produce some rather unwanted long-term neurological effects that are irreversible in nature. Best regards, J Cottle, MDthanks for the responsenow let me try to not sound too much like a crazy person. But whats happening to me is to incredible not for it to sound impossible. also that was the one and only time i did speed and did not do any other drugs since. the damage wasn't limited to soft tissue injury. It snapped the whole philtrum column causing my upper lip to structurally change. my friends, family etc all noticed the difference. it was a very hard time in my life. I remember my mom taking me to different dr's because she also saw what was happening.i think the first few months after the injury were so traumatic for me because the change . It is that change that i don't think my body ever adapted to. something happened that sent my system awry.i believe what has happened to me is not a categorized disease and it may not have happened to any other person ever. something that a dr said to me once is that you have to stop the process..that there is some kind of system malfunction.the dramatic changes are not because of hormones. yes i am on growth hormone and testosterone for hypopituitarism but the hypopituitarism is due to whatever is attacking cells or tissues in my body also is attacking the pituitary gland. The part of the pituitary gland that secretes GH and T is made of epithelium tissue.epithelium covers the whole body. i have three theories and two of the involve epithelium tissue.1. the injury and the way my upper lip/philtrum healed caused the immune system to recognize the change as foreign. It then started to attacking the epithiluim tissue. My evidence for this is just speculation ...when trying to figure which system of my body could have gone awry the immune system seems as good as anywhere to start. The immune system can attack any healthy tissue and recognize it as foreign. I have searched extensively and have found no instance of the immune system attacking epithelium tissue. another thing that makes me think it could be the immune system is how i've taken to the growth hormone treatment. After taking the GH i noticed that my symptoms and the "degeneration" for a lack of a better word really sped up. All this time the symptoms and changes had been happening at a steady pace but after GH they got worse quicker. Doing some research on Growth hormone i found that GH increases T -cells which are immune system regulator cells. So ..more t cells..stronger immune response. Something to consider.2. There is a disease where collagen does not replicate itself strong enough. The collagen regenerates but it is weaker breaks down. It causes the sufferers pain and their skin becomes elastic. This isn't happening to me. But it's possible that the epithelium tissue is acting in the same way. The philtrum column is fused at birth. Maybe somehow breaking that caused a chain reaction where the epithelium is not regenerating as it should. This is then causing the dramatic changes. 3. the brain never understood the injury. when the philtrum column broke and the amount of drugs i had in my system my brain has been sending the wrong signals ever since. well i hope that wasn't too long to get through for everyone. If the DR is still around i'd like to hear what if anything can be done. If it's 1. then possibly immunosuppressive drugs could stop the process. If it's 2 or 3 i have no idea.if it's something else i'd like to hear any ideas. It's so hard to actually explain what has happened.
    alexburton 48 Replies Flag this Response
  • what has happened to me has never happened to another human being ever.it cannot be looked up in a book. does not have a name. this is not simple tissue loss or bone loss. there is a structural breakdown in my body. My face is smaller, my head is smaller, my lips, my penis, all affectd by this. It started with the snapping of the philtrum column and structural change of the shape of my upper lip. the body did not know how to react to it and my body has been attacking itself ever since.(and if it's not attacking healthy tissue then it cannot regenerate healthy tissue) this tissue is likely epithelium tissue, a tissue that holds everything together.if my system cannot regenerate healthy epithileium tissue then what do i do about it?if it's my immune system attacking the healthy tissue then what do i do about it? i guess the only to tell would be to take immunosuppresants but i would want to take the right ones and not too many and understand tapering schedules (would likely have to take a large dose then taper down)
    alexburton 48 Replies Flag this Response
  • If you think you have a rare or one of a kind disease and no doctor will help, then I recommend talking to scientists in various fields. Because there is no routine for this sort of thing, you may need to talk to a lot of them – but eventually, you should find someone who is both very interested in your condition and very knowledgeable. Furthermore, you will be helping to advance the field and diagnosis for anyone else who has gone undiagnosed. Amanda_in_Maryland seems to have good advise, blaze as usual is being idiotic. Hey blaze, the radio tower near you is playing a broken record and it's affecting your forum replies.JCottleMD, is right – even if you can relate the injury directly to the development of your progressive problem, then the damage still seems permanent and the treatment of it probably requires alternate path of diagnosis. Furthermore, would the possibility of a developmental coincidence would cause you to question your perception of the cause/effect natural of your injury/condition (as Cottle has explained)?How long were you on HGH, and were/are you anything else?I admire your strength for theorization, and I advise you not to give up.
    Anonymous 42789 Replies Flag this Response
  • It is possible that when you were hit with the puck that it somehow damaged your pituitary gland or the area surrounding it. Did you ever have a head CT or MRI to check for damage?
    Anonymous 42789 Replies Flag this Response
  • I'd suggest you take photos of what you looked like before things started changing next time you go to the doc and a relative to vouch for you and the changes.
    Anonymous 42789 Replies Flag this Response
  • If you think you have a rare or one of a kind disease and no doctor will help, then I recommend talking to scientists in various fields. Because there is no routine for this sort of thing, you may need to talk to a lot of them – but eventually, you should find someone who is both very interested in your condition and very knowledgeable. Furthermore, you will be helping to advance the field and diagnosis for anyone else who has gone undiagnosed. Amanda_in_Maryland seems to have good advise, blaze as usual is being idiotic. Hey blaze, the radio tower near you is playing a broken record and it's affecting your forum replies.JCottleMD, is right – even if you can relate the injury directly to the development of your progressive problem, then the damage still seems permanent and the treatment of it probably requires alternate path of diagnosis. Furthermore, would the possibility of a developmental coincidence would cause you to question your perception of the cause/effect natural of your injury/condition (as Cottle has explained)?How long were you on HGH, and were/are you anything else?I admire your strength for theorization, and I advise you not to give up.ive been on GH for just over a year. One reason i started to theorize that whats happening could be auto-immune is because my symptoms felt like they started to speed up about 2 months into the GH. GH increased T -cells which are immune cells . Now i dont know if that part of this malady could be cause and affect or not. im very close to just self experimenting with immunosuppresents to find out.
    alexburton 48 Replies Flag this Response
  • I'd suggest you take photos of what you looked like before things started changing next time you go to the doc and a relative to vouch for you and the changes.its a waste of time going back to any dr. I've taken relatives to vouch for me even had one DR that took measurements and confirmed what i was saying. medicine is based on medical literature. DR's are trained to diagnose known ailments. it's taken me 8 years to get to the point where i think i have narrowed down what might be happening. Your avg DR visit in less than 10 minutes.if i had a xray of my skull from 10 years ago and an xray of my skull today and they showed incredible changes...then what? what book would that be in?and its not just my skull.. its my whole body. ive lost 4 inches in height, my penis has shrunk in girth, my legs and arms atrophied. the size of my face, my lips. its affected everything.there is something not structurallly right here. Something maybe not regenerating the way it should.going to a dr is pointless. i'm on my own
    alexburton 48 Replies Flag this Response
  • ok after about a year since first posting this thread i am worse off.i now have 2 theories of whats happening. ill keep them brief1- my immune system is attacking my epithelium tissue or collagen or both.2- my body cannot replicate epithelium or collagen properly if either of these is whats going on what can i do about iti need frickin help. im so tired of this.
    alexburton 48 Replies
    • August 12, 2009
    • 07:21 AM
    • 0
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