anything on Pseudohypopara...

[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.

[Gillwilts]

hi, when was first diagnosed with pseudoypoparathyroidism nearly 33 years ago, I used to get tetany in my hands and legs, and any stress would trigger it. It has only happened a few times since I have been on medication, and those times were when I had extremely bad news, or I was on a fairground ride that I hated.

[rumpled]

I hope he is okay! Keep us posted...

[kai939]

Hi! in the meantime I've heard that he's got already calcium residues in his kidneys. We have an appointment for Monday to go into hospital to have his medication started under observation (because of his heart issue).

[rumpled]

Did they check any of the other hormones?

There are meds to lower the phosphates, but if this is genetic, it will not work. It is amazing that the endocrine system does have a lot to do with the emotions. Calcium regulates the heart and too much can overload the kidneys.

[kai939]

Hi! His calcium is very low (half of what he should have) and his phosphate really high (double of what he should have). He already had a bone scan on his hand (with normal results) and had his kidneys screened (results were within reason). The doctors are very hesitant to just prescribe calcium as he is an LQT-syndromer and it could have bad results on his heart. He is eating a good diet with plenty of natural calcium intake, why the doctors suspect an absorbtion problem. We have now been told that the genetics specialists want to see him. I am really interested to know if whatever in his behaviour we attributed to Asperger's (slowliness, motivation issues, low muscle toning, depression, etc) could actually be attributed to the parathyreoids.

[rumpled]

Did the doctor tell you to change his diet to be high in calcium and high in vitamin D?

Are they checking him for other endocrine disorders? Yes, it can be genetic as Albright Hereditary Osteodystrophy is the most common type. Is he seeing a specialize pediatric bone endo?