How to treat acute intermittent Porphyria?

Hi, I have had some questions for the last 48 days, since my 31-year-old daughter has a rare disease called Porphyria.

Written by taticomary, published 3 months ago.

Since February 18th this year, my daughter has been hospitalized for acute onset of bowel obstruction. Doctors in the emergency room treated her with rectal enemas and liquids, which cause looseness of the bowels. She was discharged after 6 days, but that night she had to return to the clinic because her abdominal pain was intense and she feels a burning sensation. It also causes her severe chest pain and breathlessness, she was given immediate attention and remains in observation.

The next day, she had low levels of potassium and sodium, she suffered an episode of tachycardia, she began not to feel her bottom and began to feel intense pain in her legs.
The psychiatrist said that it was a stress episode and she was given medication. She has been in the emergency room for two weeks with no improvement. She began not to be able to move her arms or legs, her voice became weak and they performed all kinds of tests but they all came out clear and they cannot explain why she is like this.

They diagnosed axonal polyneuropathy after an electromyography, her urine turned a very strong, deep red. She entered into a very critical state, she faints and has a lot of tachycardia. She began to suffer hypoglycemic shock and she can hardly breathe. She was moved to intensive care. And there they discovered through the 24-hour urine test that she has very high levels of porphyrinogens, and this is when they realize that she has porphyria. Se was given haematin, she's been taking this for three weeks, she has begun show small signs of improvement, she is moving her feet a little but the pain is very intense. She lost weight very quickly, 8 kilos in total. I have many concerns and the most serious is that my daughter has not been seen by a hematologist, but by the medical intern. I do not know how the disease is progressing, how I can help her, what is going to happen... I am very confused.
Please, who can help me?
Thank you very much.

Written by taticomary, published 3 months ago.

One comment for «How to treat acute intermittent Porphyria?»

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  • lenalenaa | published about 1 month ago | Originally written in Serbo-Croatian

    I meni su je draga gospodjo dijagnostikovali prosli mjesec. Ne zna se pzno o njoj,koliko sam ja iscitala i dr mi rekli bitno je pratiti ishranu sta godi a sta ne,nanje stres nervoza,i kod porfirije ne smiju svi ljekovi da se koriste jer moze stanje da se pogorsa,kada ima napade vise ugljenih hidrata sto vise zdravog secera . I ja sam skroz zbunjena. Ima sajt Napos sve o ovoj bolesti,i ima da ukucate naziv tablete i izadje da li sme ili ne da se pije. Veliki pozdrav i puno srece

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