pseudohypoparathyroidism

[jameskf]

've had gastrointestinal problems, muscle twitches, anxiety, extremely painful menstruation, and other medical problems for years. I've been searching for sort of a more elegant, unifying theory of what's wrong with for years. I recently discovered that an unusually short forth finger, as well as some of my other conditions, is a symptom of pseudohypoparathyroidism. I've always known my right ring finger was especially short (barely longer than my pinkie) and had a dimple in place of the knuckle, but because the finger functioned normally, I never considered it a symptom before. I went to my doctor and discussed this with her as well as my extreme fatigue, joint pain, and suddenly irregular menstruation despite being on birth control. I understand that this is a rare disease, but she seemed to lack the knowledge or understanding to test for it. She did not test my calcium, phosphorous, or parathyroid hormone levels. My vitamin D came back low, but some of my limited research has shown that this could be part of the condition because vitamin D levels are controlled by pth as well. My muscle twitches have been getting worse and I am beginning to get fearful that I will have a seizure. I am reluctant to end with this diagnosis, but I don't know how to address this with my doctor. How should I approach the subject? or should I stop because my fears are totally unfounded?
  

[kai939]

Hi! My son (who is 11) has just been pinpointed to possibly have Pseudohypoparathyroidism. He has eye problems that nobody else in the family has. He is always tired and very slow. He constantly complains about itches; sleepy legs/buttocks. He always had easily falling asleep extremeties. He has also been diagnosed with Aspergers and LQT Syndrome. I just cannot believe all these conditions accumulating in one person and not being related, but the doctors seem to be always at a loss. Is this a genetic disorder (I as well as one of my brothers and my mum get easily Tetanie cramps and can't take stresses very well)!!!!!????? Does any of this sound familiar to you? What are your experiences? I am actually a member of the Asperger Community, if you are looking for some info on me. Please let me know some information, I am going ballistic here.

[pekis2265]

I was diagnosed with Pseudohypoparathyroidism when I was 14. I had all the classic symptoms: Chvostek's and Trousseau's, short 4th metacarpal, round face, short stature, small hands and feet, muscle cramps, development delay, dental problems (my teeth would never fall out and my roots were underdeveloped), etc. When I was young I had Strabismus which is a condition in which the eyes are not properly aligned with each other and I had to have eye surgery to correct it. I also had all kinds of gastrointestinal problems that the doctors could never figure out. I am just learning that all those problems were tied to Pseudohypoparathyroidism. I had no idea that Strabismus was tied to this at all. It makes me feel better to know that instead of having a million different medical problems they are all tied to one disorder. I'm realizing that you can't really understand what one goes through with this disorder unless you have it, especially when it comes to doctors. My doctors have no idea what to do for me when I tell them that I still have muscle cramping and I'm always tired. They just say well lets try taking another calcium pill in the morning. They are constantly changing my medication and 9 years later I still don't feel good. My family seems to forget that I have a disorder at all and think that I am milking it when I tell them that my joints are stiff or I'm tired. Sorry to keep babbling lol. Its nice to find people who actually understand what I am going through. As to your situation, I would look for another Endocrinologist who knows more about the disease. I have traveled to some of the best hospitals in the country to get my answers and it was well worth it to know exactly what is wrong with me. Don't give up!

[andy150384]

Hi, hope you are well. I'm Andy 24 from the UK. I was diagnosed with Pseudohypoparathyroidism when I was 10 years old. I had 2 convulsions - one when I was 7 and the other when I was 10 which was when they did several tests to diagnose me with this. When I was younger I always felt very tired and out of breath. I vaguely remember also getting pins and needles quite a lot up to the diagnosis.  I am on medication called alfa calcidol now to control my calcium level which they found was very low when tested at 10 years old (around 1.3). If you want to ask any more questions let me know.

[jameskf]

I've had a pretty sever tick in my shoulder/neck for years that I went to several doctors for and never got a real answer. At times, it can become impossible to stop and I have to take ativan. I've also always had twitches in my feet. It will feel like someone pricked me with a pin in the bottom of my foot and then it will flick upwards. This one happens a lot. My hands and feet both twitch occasionally, but especially after I give blood which I always thought was weird. i also have spasms in my legs at least a few times through out the day. There are of course also other assorted twitches through out.

[samuraisoccer]

Hello... It sounds like you are educated about the blood tests that need to be monitored when you have a diagnosis of pseudohypoparathyroidism.  Did your current doctor diagnose you with this condition? I assume you take the required medication for this! Correct?  Every single cell in our bodies need calicium so it is critical to stay on top of your health.  Anyway... there are some tests that can be that done other than bloodwork to assess a potentially low calcium level.  You can go to the flollowing website to learn about the Chvostek's and Trousseau's sign:   http://www.turner-white.com/pdf/hp_mar00_hypocal.pdf   I would try these tests.  Maybe someone can assist you.  Also,  It is important to have a doctor that will listen to you and understand your condition so be persistant for the rest of your life in regards to your health.   My son has this condition so I speak to you from experience.  You are not alone so I hope this is comforting to you.  He is a super guy with a shortened fourth finger and a very busy active teenager!  Best of luck and good health to you!

[Craftydeb70]

Hi  there i'm crafty Deb can you tell me where you get the muscle spasms as this may be a clue as to wether it is pseudhypoparathyroidism.

[debsiwebs]

Hi there....I don't know much about your condition...but talk to my friend craftydeb.....she has and has had the same for years, maybe you could share your experiences with her. best wishes, deb