Acute Hepatic Porphyria is a rare form of Porphyria characterized by an enzyme deficiency in the liver.
To Cottondeb, Please respond; want to learn more about your chemical sensitivities and overexposure to toxins. Very important to my daughter's present condition...Thank you.
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Thanks so much for responding; my daughter (now 14) began exhibiting symptoms at age 10; diagnosed at 12 with AIP. FInallly diagnosed thru DNA testing (she's adopted). As of this time she cannot return to local schools and is currently being tutored (through school district). Though I have yet to prove it, something in the school buildings cause symptoms: first (at age 11) nausea, headache, vomiting, dizzy, numbness which quickly progressed to 2-5 min. fainting & 'seizure' type activity which then progressed to 5-20+ min. attacks of fainting and convulsions and potential life-threatening actvity (inability to breath) before the horrendous abdominal pain came on (usually upon regaining consiousness). LOTS of hospitalizations and 'nasty' references about 'faking it for attention.' I narrowed it down to a combination of the cleaning agent/white & smart board markers/ herbicide before the school shut down and refused to work with me. Her nausea would begin whenever she had to wait out on the sidewalk for any length of time in front of the school building to gain entry with the other kids. The white and smart board markers contain neurotoxins; she was must susceptible in math class (one of the classes she loved) where markers were used very heavily. Finally, the cleaning agent (a "green cleaner") seemed to trigger attacks, especially during the 'swine flu' scare when everything was washed over-frequently. We resorted to retaining legal help to get her the education opportunity she is entitled to. Would you be willing to correspond about your AIP expereince(s) for potential input to our book (esp. if you have any childhood health/AIP-related recollections (trying to raise awareness of this rare disorder and to tell the story of our tween's ordeal with this adult-onset disease? If so, you can email me at firstname.lastname@example.org. FYI, a member to this forum helped us TREMENDOUSLY with a referral to an AIP specialist in your 'neck of the country' who literally saved our daugther's life and gave her/us hope for her future. In fact, we went to VA in October for an update 'check-in'. Our daughter is currently asymptomatic but hasn't seen the inside of a school room yet this year. She is about to start at a new school in another district and we are praying that this school will not trigger attacks. Our book is about 75% finished; to our knowledge, she is the only kid in U.S. with AIP that requires Panhematin treatments (she has a port in her chest to facilitate infusions) and can no longer play contact sports (her budding basketball love went kaput soon after she began the horrid attacks).
Hi - It has often been difficult for me to associate a substance that causes an AIP attack because, for me, very rarely does an adverse reaction happen immediately after exposure. Usually by the time that I am very symptomatic a day or two has passed since the suspected exposure. Still having said that - I cannot be around some chemical substances without having an almost immediate reaction. I am responding to your inquiry because I was reminded once again last night that anything with acetone (my wife's application of nail polish / remover) will send me into a “porphy” state. I.e. belly pain, dizzy, numbness in my extremities… dc
We are back in the hospital as well. Major episode yesterday. Weekly is not working here either so will talk to Dr. about your approach. Will anyboy ever run an efficient emergency department? My email is email@example.com. Will try to remember to join APF today. It keeps getting lost in everything else.
Ditto on the neurologist and on the oxygen during the seizure. We are very fortunate in that we have a team of doctors including her neurologist and hematologist that have treated prophyria before. So it has become a lot easier. I don't even ask aboiut the oxygen anymore; I just put it on her even though her sat levels say she is fine. My daughter is getting heme every week to see if we can get her stabilized. She starts with abdominal pain, her abdomine gets the color of ripe plums (I know AIP is not supposed to have skin involvement but her's to quote her hematologist obviously did not read the textbook), the she will start having seizures. Her seizures last from 30 seconds to two minutes and are focal or temporal lobe. She takes Pamalor which has helped. Be very careful with the Ativan; it made my daughter worse after the first time they gave it to her. My daughter also sweats the porphyrins; bright purple red. The article is a great idea. If you want to collaborate or discuss, I would be happy to send Mira at the APF my contact information,
Had another apnea/seizure episode again Sunday afternoon; back in hospital 'til late yesterday. She's now outpatient again for next few days to get 4 treatments of heme and we'll see where that takes us. I was encouraged to read Mira's story in APF newsletter--seems my daughter will have to also get 4 days heme treatment once a month for a while. This up and down stuff is almost too much for a 12-yr-old--or her 51 year old mother--to bear! The once a week glucose and/or heme just wasn't enough for her. But we had to try to see what might work. She's now up to seizing for 45 mins-2 hrs! When she started 18 months ago, it was 15-45 seconds each time. What a long road it has been. I would appreciate any input you might want to give to the APF article. I'm hoping that I can get a draft by the end of this week. Are you a member yet of APF? If so, consider also submitting your daughter's AIP story to the web site. Actually, that is where I learned so much information about this disorder. I've read every single one of the stories, and am amazed at what people have lived with--sometimes for their entire lives!! Do you have an email that I can send you a draft when it's done?
I have read that sleep problems are part of AIP and my daughter certainly has them. Insomnia more than apnea but also a lack of adequate REM sleep. If your daughter's lips are turning gray, I would be concerned about whether she is developing a problem with the muscles that control respiration. Might pay to have a pulmonologist look at her. When my daughter seizes, she stops breathing. I don't know what is going on at the cellular or tissue level but I know that the longer the seizures go on, the harder it is for her to get back into reality. She doesn't know who she is or where she is and frequently does not recognize me. To your original question, we have not had a sleep study done. Did have a video EEG.
I've been begging my daughter's pediatrician for well over a year to order a sleep study and am about to pay for one myself. While hospitalized in Oct '08 with bad seizures, her bedside monitor registered sleep apnea >64 seconds. Now she's seizing at school (twice in a week) and I think it's largely due to systemic oxygen depletion. Again, everyone thinks I'm a nut case. But navigating school stairs with a 30-50 lb backpack is too taxing, I think. Has anyone else out there with AIP had a sleep study done, perhaps?? Seems to me when her lips are gray, she can't get a breath and launches into seizure that oxygen in the arteries might be flowing, but what's happening at the celluar or tissue level? No data available re this issue...
Our experience with testing was dismal and disheartening as well. We have not done genetic testing as the glucose and hemen treatments have worked. Tomorrow will be her first prophylactic dose of hemen to see if we can get her through her menstrual cycle without an episode.
Our experience with testing of blood, urine, stool samples has been dismal. We finally went with genetic testing through Mt. Sinai genetic testing lab in NYC. 3 wks later, it was finally confirmed. The myriad of symptoms my daughter was experiencing was due to AIP. There are several forms of accute porphyria; Variegate Porphyria symptoms can include both neurovisceral and cutaneous potosensitivity (sunlight blisters/rash).
There is a pediatric hematologist in the Washington DC area that has a solid background in treating porphyria. Her name is Dr. Eva Perdahl. She trained in Sweden where porphyria is much more common. She can be contacted through Children's Hospital in the District of Columbia. I highly recommend her. It took almost 3 years to diagnose my daughter. We all know the story. We now have a treatment regime and a plan.
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Created by MamaGould | Last updated 18 Feb 2009, 04:13 PM
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